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Alexander Augusto De Lima Jorge

Dados pessoais

  • HS Health Sciences
  • LS Life Sciences
  • MU Multidisciplinary
  • PS Physical Sciences
  • SH Social Sciences & Humanities
# Nome Links Grande Área Área
1 Alexandre Archanjo FERRARO Ciências da Saúde Medicina
2 Carlos Alberto BUCHPIGUEL Ciências da Saúde Medicina
3 Carlos Alberto LONGUI Ciências da Saúde Medicina
4 Carlos Eduardo Martinelli JUNIOR Ciências da Saúde Medicina
5 Chong Ae KIM Ciências da Saúde Medicina
6 Claudia Da Costa LEITE Ciências da Saúde Medicina
7 Débora Romeo BERTOLA Ciências da Saúde Medicina
8 Decio BRUNONI Ciências Biológicas Genética
9 Durval DAMIANI Ciências da Saúde Medicina
10 Edmund Chada BARACAT Ciências da Saúde Medicina
11 Francisco Alfredo Bandeira E FARIAS Ciências da Saúde Medicina
12 Gil Guerra JÚNIOR Ciências da Saúde Medicina
13 Ivani Novato SILVA Ciências da Saúde Medicina
14 Júlio Cesar De Carvalho BALIEIRO Ciências Agrárias Zootecnia
15 Laura Sterian WARD Ciências da Saúde Medicina
16 Marco Antonio BARBIERI Ciências da Saúde Medicina
17 Osmar MONTE Ciências da Saúde Medicina
18 Renan Magalhaes Montenegro JUNIOR Ciências da Saúde Medicina
19 Silvana Cristina Dos SANTOS Ciências Biológicas Genética
20 Sofia Helena Valente De Lemos MARINI Ciências da Saúde Medicina
21 Thais Della MANNA Ciências da Saúde Medicina
Figura 1. Número de publicações por ano e por tipo, considerando todas as publicações.
  1. Health Sciences Neurology (clinical)
    Andrade Nathalia L M; Funari Mariana F; Malaquias ALEXANDRA; Dantas Naiara Castelo BRANCO; Rezende Raissa C et al. 2023. Diagnostic yield of a multigene approach in children with short stature of unknown cause: it is time to remove the term idiopathic!. In: 11th international meeting of pediatric endocrinology - impe2023. Grã-Bretanha.
  2. Health Sciences Genetics (clinical)
    Andrade Nathalia L M; Funari Mariana A; Antonio Carlos LERÁRIO; Alexsandra C MALAQUIAS; Solberg PAULO et al. 2022. High prevalence of growth plate related genes in a cohort of children with isolated short stature. In: 15th international skeletal dysplasia society meeting. Grã-Bretanha.
  3. Health Sciences Neurology (clinical)
    Andrade Nathalia L M; Mariana F A FUNARI; Alexsandra C MALAQUIAS; Dantas Naiara C B; Rezende Raissa C et al. 2022. Diagnostic yield of a multigene approach in children with short stature of unknown cause: it is time to remove the term idiopathic!. In: 35º congresso brasileiro de endocrinologia e metabologia. Brasil.
  4. Life Sciences Genetics
    Dantas Naiara Castelo BRANCO; Funari Mariana F A; Andrade Nathalia L M; Rezende Raissa C; Cellin Laurana POLLI et al. 2022. Identification of new genetic modifiers of the phenotype in shox haploinsufficiency. In: Xxx annual meeting of the latin american pediatric endocrinology society (slep). Grã-Bretanha.
  5. Health Sciences Medicine (miscellaneous)
    Vasques Gabriela A; Andrade Nathalia L M; Funari Mariana F; Homma Thais K; Freire Bruna L et al. 2019. Clinical and genetic evaluation of prepubertal children with short stature and advanced bone age. In: Xxviii latin american congress of pediatric endocrinology 2019. Grã-Bretanha.
  6. Health Sciences Genetics (clinical)
    Andrade Nathalia L M; Vasques Gabriela A; Funari Mariana F A; Berenice Bilharinho De MENDONÇA; Alexander Augusto De Lima JORGE. 2019. Response to rhgh therapy in children with isolated short stature with or without an identified genetic cause. In: Xxviii latin american congress of pediatric endocrinology 2019. Brasil.
  7. Life Sciences Genetics
    Julia HOPPMANN; Denise Rockstroh LIPPOLD; Peter GERGICS; Nakaguma MARILENA; Carvalho Luciani R et al. 2018. Novel variants in the pou1f1 beta isoform are associated with isolated growth hormone deficiency and combined pituitary hormone deficiency. In: 57th annual meeting of the european society for paediatric endocrinology (espe). Grã-Bretanha.
  8. Health Sciences Pediatrics, Perinatology and Child Health
    Renata Maria De NORONHA; Thais K HOMMA; Funari Mariana A; Alexandre C PEREIRA; Sandra M F VILLARES et al. 2018. The metabolic profile associated with rasopathies. In: 57th annual meeting of the european society for paediatric endocrinology (espe). Grã-Bretanha.
  9. Health Sciences Pediatrics, Perinatology and Child Health
    Ana P M CANTON; Vinicius N BRITO; Luciana R MONTENEGRO; Macedo DELANIE; Bessa Danielle S et al. 2018. Clinical and genetic features of central precocious puberty associated with complex phenotypes. In: 57th annual meeting of the european society for paediatric endocrinology (espe). Grã-Bretanha.
  10. Life Sciences Genetics
    Thais K HOMMA; Bruna Lucheze FREIRE; Honjo Rachel S; Andrew DAUBER; Mariana F A FUNARI et al. 2018. Genetic investigation of children with syndromic prenatal onset short stature. In: 57th annual meeting of the european society for paediatric endocrinology (espe). Grã-Bretanha.
  11. Health Sciences Pediatrics, Perinatology and Child Health
    Thais H Inoue LIMA; Alexander Augusto De Lima JORGE. 2017. Reassessment of igf-1 values in the diagnosis of growth hormone deficiency. In: 10th international meeting of pediatric endocrinology. Estados Unidos.
  12. Social Sciences & Humanities Psychology (miscellaneous)
    Thais K HOMMA; Bruna Lucheze FREIRE; Funari Mariana F A; Alexsandra C MALAQUIAS; Rachel RONJO et al. 2017. Genomic approaches to investigate children born small for gestational age (sga) without catch upgrowth. In: 10th international meeting of pediatric endocrinology. Estados Unidos.
  13. Life Sciences Genetics
    Ana P M CANTON; Thais K HOMMA; Furuya Tatiane KATSUE; Roela Rosimeire APARECIDA; Arnhold Ivo J P et al. 2016. Pathogenic copy number variants are frequently identified in children with short stature of unknown etiology. In: 55th annual meeting of european society for paediatric endocrinology (espe). Grã-Bretanha.
  14. Life Sciences Genetics
    Mônica M FRANÇA; Mariana F A FUNARI; Mirian Y NISHI; Sorahia DOMENICE; Ana Claudia LATRONICO et al. 2016. Whole-exome sequencing reveals rad51b variant in two sisters with primary ovarian failure. In: 55th annual meeting of european society for paediatric endocrinology (espe). Grã-Bretanha.
  15. Life Sciences Genetics
    Thais K HOMMA; Mariana F A FUNARI; Antonio Carlos LERÁRIO; Bruna Lucheze FREIRE; Mirian Y NISHI et al. 2016. Rab3ip and dgcr8 as a potentially pathogenic novel candidate gene involving in growth disorders. In: 55th annual meeting of european society for paediatric endocrinology (espe). Inglaterra.
  16. Life Sciences Biochemistry, Genetics and Molecular Biology (miscellaneous)
    Marilena NAKAGUMA; Alexander Augusto De Lima JORGE; Mariana F A FUNARI; Antonio Carlos LERÁRIO; Correa Fernanda A et al. 2016. Genetic diagnosis of congenital growth hormone deficiency by massive parallel sequencing using a target gene pane. In: 55th annual meeting of european society for paediatric endocrinology (espe). Inglaterra.
  17. Life Sciences Genetics
    João Luiz De Oliveira MADEIRA; Mirian Y NISHI; Marilena NAKAGUMA; Anna Flavia BENEDETTI; Isabela Peixoto BISCOTTO et al. 2016. O sequenciamento do gene prop1 por sanger é método custo-efetivo para o diagnóstico molecular em pacientes latino-americanos com deficiência hipotálamohipofisária múltipla (dhhm) e neuro-hipófise tópica (nht) ou não visualizada (nhnv). In: 32o congresso brasileiro de endocrinologia e metabologia (cbem). Brasil.
  18. Life Sciences Genetics
    Renan Magalhães Montenegro JÚNIOR; Aline Dantas RIQUETTO; Lucas De SANTANA; Lilian A CAETANO; Milena TELES et al. 2016. Mutação homozigótica da laminina a/c p.r582c causando os fenótipos de lipodistrofia generalizada e parcial em uma família brasileira. In: 32o congresso brasileiro de endocrinologia e metabologia (cbem). Brasil.
  19. Life Sciences Neurology
    Fernanda A CORRÊA; França Marcela M; Ana P M CANTON; Aline P OTTO; Everlayny Fiorot COSTALONGA et al. 2015. Copy number variants in patients with congenital hypopituitarism associated with complex phenotypes. In: 54th annual espe meeting. Grã-Bretanha.
  20. Health Sciences Genetics (clinical)
    Alexsandra C MALAQUIAS; Michelle B MORAES; Mariana F A FUNARI; Alexandre C PEREIRA; Débora B BERTOLA et al. 2015. The impact of growth hormone therapy in noonan syndrome children with identified mutations in ras/mapk pathway. In: 54th annual meeting of european society for paediatric endocrinology (espe2015). Grã-Bretanha.
  21. Life Sciences Genetics
    Mariana F A FUNARI; Gabriela De Andrade VASQUES; Antonio Carlos LERÁRIO; Bruna Lucheze FREIRE; Mirian Y NISHI et al. 2015. Genetic causes of disproportional short stature identified by whole exome sequencing. In: 54th annual meeting of european society for paediatric endocrinology (espe2015). Grã-Bretanha.
  22. Health Sciences Medicine (miscellaneous)
    Alexsandra C MALAQUIAS; Michelle B MORAES; Antonio Carlos LERÁRIO; Erica TRABACH; Miguel Nitne NETO et al. 2014. Targeted high-throughput sequencing of ras/mapk pathway genes for diagnosis of noonan syndrome (ns) and noonan-related disorders (nrd). In: 16th international congress of endocrinology. Estados Unidos.
  23. Life Sciences Genetics
    Renata C SCALCO; Mariana F A FUNARI; Rosana Midori ARACAVA; Tonelli C; Alexander Augusto De Lima JORGE. 2014. Evidence for a founder effect of c.424_427del stat5b mutation causing growth hormone insensitivity in the south of brazil. In: 16th international congress of endocrinology. Estados Unidos.
  24. Health Sciences Pediatrics, Perinatology and Child Health
    Joao MADEIRA; Regina Matsunaga MARTIN; Luciana R MONTENEGRO; Marcela M FRANÇA; Everlayny Fiorot COSTALONGA et al. 2014. A homozygous point mutation in the gh1 promoter (k161toc) leads to reduced gh expression in siblings with isolated gh deficiency. In: 53rd european society for paediatric endocrinology (espe) meeting. Irlanda.
  25. Life Sciences Genetics
    Fernanda Guimarães WEILER; Beatriz Tavares Costa CARVALHO; Cristina Miuki Abe JACOB; Alexander Augusto De Lima JORGE; Daniela Espíndola ANTUNES et al. 2014. Caracterizaçao clínica e molecular de uma coorte brasileira com síndrome poliglandular autoimune do tipo 1. In: 31o congresso brasileiro de endocrinologia e metabologia (cbem). Brasil.
  26. Life Sciences Genetics
    Renata C SCALCO; Mariana F A FUNARI; Rosana Midori ARACAVA; Carlos A TONELLI; Alexander Augusto De Lima JORGE. 2014. Evidência de efeito fundador na mutação c.424_427del da stat5b causando insensibilidade ao hormônio de crescimento no sul do brasil. In: 31o congresso brasileiro de endocrinologia e metabologia (cbem). Brasil.
  27. Life Sciences Endocrinology
    Rafael Arrabaça De CARVALHO; Alexander Augusto De Lima JORGE; Sueli Mieko Oba SHINJO; Quedas Elisangela P S; Lucas De SANTANA et al. 2014. Evaluation of the next-generation sequencing as a new tool to the genetic diagnosis in multiple endocrine neoplasia type 1. In: 31o congresso brasileiro de endocrinologia e metabologia (cbem). Brasil.
  28. Life Sciences Genetics
    Canton Ana Pinheiro MACHADO; Tatiane RODRIGUES; Ana C V Krepischi SANTOS; Ivo Jorge Prado ARNHOLD; Berenice Bilharinho MENDONÇA et al. 2013. Pesquisa de deleções e duplicações cromossômicas submicroscópicas em pacientes dismórficos nascidos pequenos para idade gestacional. In: 10o congresso paulista de endocrinologia e metabologia (copem). Brasil.
  29. Life Sciences Genetics
    Fernanda A CORRÊA; Marcela M FRANÇA; Canton Ana Pinheiro MACHADO; Aline P OTTO; Everlayny Fiorot COSTALONGA et al. 2013. Alterações cromossômicas submicroscópicas podem ser responsáveis pela etiologia molecular do hipopituitarismo congênito. In: 10o congresso paulista de endocrinologia e metabologia (copem). Brasil.
  30. Life Sciences Genetics
    Renata C SCALCO; Tonelli C; Patrícia N PUGLIESE; Julio CECHINEL; Ivo Jorge Prado ARNHOLD et al. 2013. Mild growth and immunological phenotype in individuals heterozygous for stat5b mutation. In: The endocrine society's 95th annual meeting & expo (endo2013). Estados Unidos.
  31. Health Sciences Genetics (clinical)
    João Luiz De Oliveira MADEIRA; Regina Matsunaga MARTIN; Luciana R MONTENEGRO; Marcela M FRANÇA; Everlayny Fiorot COSTALONGA et al. 2013. Decreased growth hormone expression due to double homozygous mutation in the gh1 promoter region is associated to isolated growth hormone deficiency in 3 siblings. In: The endocrine society's 95th annual meeting & expo (endo2013). Estados Unidos.
  32. Health Sciences Pharmacology (medical)
    Tamaya C RIBEIRO; Alexander Augusto De Lima JORGE; Luciana R MONTENEGRO; Madson Q ALMEIDA; Bruno Ferraz De SOUZA et al. 2013. Inhibitory effect of igf1r silencing by small interfering rna in nci h295r adrenocortical tumor cell line. In: The endocrine society's 95th annual meeting & expo (endo2013). Estados Unidos.
  33. Health Sciences Genetics (clinical)
    Vasques G A; Amano N; Ana Jung DOCKO; Mariana F A FUNARI; Quedas E P S et al. 2013. Heterozygous mutations in natriuretic peptide receptor-b gene (npr2) as a cause of idiopathic short stature. In: 9th joint meeting of paediatric endocrinology. Itália.
  34. Health Sciences Pediatrics, Perinatology and Child Health
    Alexsandra C MALAQUIAS; Eveline G P FONTANELE; Everlayny Fiorot COSTALONGA; Renata C SCALCO; Mariana F A FUNARI et al. 2013. The sitting height/height ratio for age is a simple and useful tool to select children with idiopathic short stature for shox studies. In: 9th joint meeting of paediatric endocrinology. Itália.
  35. Health Sciences Pediatrics, Perinatology and Child Health
    Lenira Cristina STELLA; Marina DALLAL; Cecília Oliveira Barbosa BUCK; Fadlo Fraige FILHO; Alexander Augusto De Lima JORGE. 2013. Neonatal hypoglycaemia due to glucose 6 phosphatase deficiency. In: 9th joint meeting of paediatric endocrinology. Itália.
  36. Health Sciences Genetics (clinical)
    Ândria Carla Vito LIDO; Marcela M FRANÇA; Aline P OTTO; Luciani R S CARVALHO; Berenice Bilharinho De MENDONÇA et al. 2013. Autosomal recessive (type i) is more frequent than autosomal dominant (type ii) isolated growth hormone deficiency in a cohort of brazilian patients. In: 9th joint meeting of paediatric endocrinology. Itália.
  37. Health Sciences Genetics (clinical)
    Eveline G P FONTANELE; Catarina Brasil D ALVA; Daniel P PINHEIRO; Erica TRABACH; Berenice Bilharinho De MENDONÇA et al. 2013. Polymorphism rs8081612 in the mitogen-activated protein 3 kinase 3 (map3k3) gene is associated with children height in a brazilian cohort. In: 9th joint meeting of paediatric endocrinology. Itália.
  38. Health Sciences Medicine (miscellaneous)
    Nayara Paula Bermudes GIOVANINNI; Jeanne Teixeira Bessa FULY; Thais Coutinho NICOLA; Leonardo Iezzi MORAES; Alexander Augusto De Lima JORGE et al. 2013. Analysis of the influence of clock 3111 t/c snp on the presence of obesity and duration of sleep in children. In: 9th joint meeting of paediatric endocrinology. Itália.
  39. Life Sciences Genetics
    Fernanda A CORRÊA; Marcela M FRANÇA; Ana Pinheiro Machado CANTON; Aline P OTTO; Everlayny Fiorot COSTALONGA et al. 2013. Copy number variants in brazilian patients with congenital hypopituitarism. In: 9th joint meeting of paediatric endocrinology. Itália.
  40. Health Sciences Genetics (clinical)
    Adriana F BRAZ; Everlayny Fiorot COSTALONGA; Erica TRABACH; Berenice Bilharinho De MENDONÇA; Ivo Jorge Prado ARNHOLD et al. 2012. Socs2 polymorphisms and their influence on adult height of girls with turner syndrome treated with recombinant human growth hormone (rhgh). In: 51st meeting of the european society for paediatric endocrinology. Alemanha.
  41. Life Sciences Genetics
    Renata C SCALCO; Tonelli C; Patrícia N PUGLIESE; Julio CECHINEL; Ivo Jorge Prado ARNHOLD et al. 2012. Clinical; hormonal and immunological phenotype in individuals heterozygous for stat5b mutations. In: 51st meeting of the european society for paediatric endocrinology. Alemanha.
  42. Life Sciences Genetics
    Ana P M CANTON; Tatiane RODRIGUES; Ana C V Krepischi SANTOS; Ivo Jorge Prado ARNHOLD; Berenice Bilharinho De MENDONÇA et al. 2012. High frequency of submicroscopic chromosomal deletions and duplications in dysmorphic patients born small for gestational age. In: 51st meeting of the european society for paediatric endocrinology. Alemanha.
  43. Health Sciences Genetics (clinical)
    Marcela M FRANÇA; Alexander Augusto De Lima JORGE; Luciani R S CARVALHO; Berenice Bilharinho MENDONÇA; Ivo Jorge Prado ARNHOLD. 2011. Absence of gh-releasing hormone (ghrh) mutations in selected patients with isolated gh deficiency. In: The endocrine society endo 2011 - 93rd annual meeting & expo. Estados Unidos.
  44. Health Sciences Medicine (miscellaneous)
    Tamaya C RIBEIRO; Alexander Augusto De Lima JORGE; Madson Q ALMEIDA; Maria Cândida FRAGOSO; Berenice Bilharinho MENDONÇA et al. 2011. Análise dos potenciais mecanismos implicados na hiperexpressão de igf1r em tumores adrenocorticais esporádicos pediátricos e de adultos. In: Iv congresso brasileiro de atualização em endocrinologia e metabologia & ix congresso paulista de endocrinologia e metabologia (cbaem + copem 2011). Brasil.
  45. Health Sciences Medicine (miscellaneous)
    Marcela M FRANÇA; Alexander Augusto De Lima JORGE; Luciani R S CARVALHO; Aline P OTTO; Fernanda A CORRÊA et al. 2011. Mutações no gli2 em pacientes com deficiência de gh congênita. In: Iv congresso brasileiro de atualização em endocrinologia e metabologia & ix congresso paulista de endocrinologia e metabologia (cbaem + copem 2011). Brasil.
  46. Health Sciences Medicine (miscellaneous)
    Cristiane N LAURETTI; Daniel S FREIRE; Elisangela QUEDAS; Alexander Augusto De Lima JORGE; Maria Adelaide A PEREIRA. 2011. Relato de família com diabetes insipidus nefrogênico hereditário. In: Iv congresso brasileiro de atualização em endocrinologia e metabologia & ix congresso paulista de endocrinologia e metabologia (cbaem + copem 2011). Brasil.
  47. Life Sciences Molecular Biology
    Raquel JALLAD; Erica TRABACH; Alexander Augusto De Lima JORGE; Marcello D BRONSTEIN. 2010. Influence of growth hormone receptor (ghr) exon 3 genotype on clinical; metabolic and hormonal profile in untreated acromegalic patients. In: Xv sine (simpósio internacional de neuroendocrinologia. Brasil.
  48. Health Sciences Genetics (clinical)
    Patrícia N PUGLIESE; Jean Philippe FORTIN; Yuantee ZHU; Berenice Bilharinho MENDONÇA; Ivo Jorge Prado ARNHOLD et al. 2010. Novel mutations in the growth hormone secretagogue receptor gene (ghsr) associated with constitutional delay in growth and puberty (cdgp). In: The 92nd annual meeting of the endocrine society. Estados Unidos.
  49. Life Sciences Genetics
    Patrícia N PUGLIESE; Tonelli C; Dora J M; Silva P; Czepielewski M A et al. 2010. Novel stat5b mutation in two male siblings with growth hormone insensitivity; hyperprolactinemia and immune dysfunction. In: The 92nd annual meeting of the endocrine society. Estados Unidos.
  50. Life Sciences Genetics
    Alexsandra C MALAQUIAS; Amanda S BRASIL; Luciana T WANDERLEY; Alexandre C PEREIRA; Débora B BERTOLA et al. 2010. Pre- and postnatal growth pattern in noonan syndrome (ns) patients according to ptpn11; sos1 and raf1 genotypes. In: The 92nd annual meeting of the endocrine society. Estados Unidos.
  51. Life Sciences Genetics
    Andrea De Castro LEAL; Luciana R MONTENEGRO; Débora Cabral COUTINHO; Ivo Jorge Prado ARNHOLD; Berenice Bilharinho MENDONÇA et al. 2010. Novel mutations (p.r511w and p.g6r) in igf1r gene in children born small for gestational age (sga) without catch-up growth. In: The 92nd annual meeting of the endocrine society. Estados Unidos.
  52. Life Sciences Genetics
    Raquel JALLAD; Erica TRABACH; Marcello D BRONSTEIN; Alexander Augusto De Lima JORGE. 2010. Influence of growth hormone receptor (ghr) exon 3 genotype on clinical; metabolic and hormonal profiles in untreated acromegalic patients. In: The 92nd annual meeting of the endocrine society. Estados Unidos.
  53. Life Sciences Genetics
    Alexander Augusto De Lima JORGE; Zvi LARON; Emilia PINTO; Diogo MEYER; Jaime Guevara AGUIERRE et al. 2010. The founder effect of e180splice mutation in the growth hormone receptor (ghr) gene causing laron syndrome in israel; ecuador; brazil and chile. In: The 92nd annual meeting of the endocrine society. Estados Unidos.
  54. Health Sciences Genetics (clinical)
    Marcela M FRANÇA; Alexander Augusto De Lima JORGE; Luciani R S CARVALHO; Berenice Bilharinho MENDONÇA; Ivo Jorge Prado ARNHOLD. 2010. Three novel gli2 mutations (l788fsx794; l694fsx732 and e380x) presenting as variable penetrance of pituitary hormone deficiencies without holoprosencephaly. In: The 92nd annual meeting of the endocrine society. Estados Unidos.
  55. Life Sciences Genetics
    Débora Cabral COUTINHO; Andrea De Castro LEAL; Luciana R MONTENEGRO; Durval DAMIANI; Berenice Bilharinho MENDONÇA et al. 2009. Nova mutação (p.r511w) no gene igf1r em crianças nascidas pequenas para idade gestacional (pig) sem recuperação espontânea do crescimento. In: Viii congresso brasileiro pediátrico de endocrinologia e metabolosia. Brasil.
  56. Life Sciences Genetics
    Alexsandra C MALAQUIAS; Alexander Augusto De Lima JORGE; Angela M Spinola CASTRO; Andre Maciel GUERRA; Ivo Jorge Prado ARNHOLD et al. 2009. Relação altura sentada/altura total para idade cronológica alterada é mais comum em pacientes com defeitos isolados no gene shox (short stature homeo-box gene) do que em pacientes com síndrome de turner. In: Viii congresso brasileiro pediátrico de endocrinologia e metabolosia. Brasil.
  57. Health Sciences Genetics (clinical)
    Patrícia N PUGLIESE; Luciani R S CARVALHO; Berenice Bilharinho MENDONÇA; Ivo Jorge Prado ARNHOLD; Alexander Augusto De Lima JORGE. 2009. Duas novas mutações no gene do receptor do secretagogo do hormônio de crescimento (ghsr) associada à baixa estatura idiopática (bei) e à deficiência isolada de hormônio de crescimento (dghi). In: 8º congreso paulista de endocrinologia e metabologia (copem). Brasil.
  58. Health Sciences Genetics (clinical)
    Marcela M FRANÇA; Everlayny Fiorot COSTALONGA; Luciani R S CARVALHO; Berenice Bilharinho MENDONÇA; Alexander Augusto De Lima JORGE et al. 2009. Análise molecular do gene ghrh em pacientes com deficiência isolada de hormônio de crescimento (digh) congênita. In: 8º congreso paulista de endocrinologia e metabologia (copem). Brasil.
  59. Health Sciences General Medicine
    Cecília A HOHI; Alexsandra C MALAQUIAS; Berenice Bilharinho MENDONÇA; Alexander Augusto De Lima JORGE. 2009. Sangramento gastrointestinal na síndrome de turner: relato de caso e revisão da literatura. In: 8º congreso paulista de endocrinologia e metabologia (copem). Brasil.
  60. Life Sciences Genetics
    Alexsandra C MALAQUIAS; Amanda S BRASIL; Alexandre C PEREIRA; Ivo Jorge Prado ARNHOLD; Berenice Bilharinho MENDONÇA et al. 2009. Correlação genótipo-fenótipo em pacientes com síndrome de noonan e mutações no ptpn11. In: 8º congreso paulista de endocrinologia e metabologia (copem). Brasil.
  61. Life Sciences Neuroscience (miscellaneous)
    Luciani R S CARVALHO; Alexander Augusto De Lima JORGE; Ivo Jorge Prado ARNHOLD; Berenice Bilharinho MENDONÇA. 2009. Use of na alternative fluorescent electrophoretic mobility shift assay for the analysis of protein-dna complex. In: 8º congreso paulista de endocrinologia e metabologia (copem). Brasil.
  62. Life Sciences Genetics
    Patrícia N PUGLIESE; Luciani R S CARVALHO; Berenice Bilharinho MENDONÇA; Ivo Jorge Prado ARNHOLD; Alexander Augusto De Lima JORGE. 2009. Two novel mutations in the growth hormone secretagogue receptor gene (ghsr) associated with severe growth hormone deficiency (ghd) and idiopathic short stature (iss). In: The endocrine society?s 91st annual meeting. Estados Unidos.
  63. Life Sciences Neurology
    Luciana R MONTENEGRO; Andrea De Castro LEAL; Débora Cabral COUTINHO; Miriam Y NISHI; Berenice Bilharinho MENDONÇA et al. 2009. In vitro characterization of igf-1 insensitivity in a silver-russell syndrome (srs) patient with demethylation of the imprinting center region (icr1) on chromossome 11. In: The endocrine society?s 91st annual meeting. Estados Unidos.
  64. Life Sciences Biochemistry, Genetics and Molecular Biology (miscellaneous)
    Mariana F A FUNARI; Alexander Augusto De Lima JORGE; Silvia C SOUZA; Berenice Bilharinho MENDONÇA; Miriam Y NISHI. 2009. Comparison of three methods for identification of shox gene deletion: fish technique; microsatellite analysis and mlpa. In: The endocrine society?s 91st annual meeting. Estados Unidos.
  65. Health Sciences Cardiology and Cardiovascular Medicine
    Maria Estela Justamente De FARIA; Luciani R S CARVALHO; Alexander Augusto De Lima JORGE; Ivo Jorge Prado ARNHOLD; Berenice Bilharinho MENDONÇA. 2009. Craniofacial and extremity growth evaluation in patients with turner syndrome during growth hormone therapy. In: The endocrine society?s 91st annual meeting. Estados Unidos.
  66. Health Sciences Pediatrics, Perinatology and Child Health
    Renata C SCALCO; Suzana S MELO; Patrícia N PUGLIESE; Ivo Jorge Prado ARNHOLD; Berenice Bilharinho MENDONÇA et al. 2009. Long term growth response to combined therapy with recombinant human growth hormone (rhgh) and gnrh analog (gnrha) in pubertal children with isolated shox defect. In: The endocrine society?s 91st annual meeting. Estados Unidos.
  67. Life Sciences Genetics
    Tamaya C RIBEIRO; Madson Q ALMEIDA; Alexander Augusto De Lima JORGE; Maria Cândida FRAGOSO; Berenice Bilharinho MENDONÇA et al. 2009. Igf1r gene overexpression in sporadic adrenocortical tumor is not dependent on gene amplification. In: The endocrine society?s 91st annual meeting. Estados Unidos.
  68. Health Sciences Genetics (clinical)
    Madson Q ALMEIDA; Maria Cândida FRAGOSO; Tamaya C RIBEIRO; Miriam Y NISHI; Antonio Carlos LERÁRIO et al. 2009. Steroidogenic factor 1 expression and amplification analysis in a large series of pediatic and adult adrenocortical tumors. In: The endocrine society?s 91st annual meeting. Estados Unidos.
  69. Health Sciences Genetics (clinical)
    Luciani R S CARVALHO; Alexander Augusto De Lima JORGE; Regina Matsunaga MARTIN; Marcela M FRANÇA; Everlayny Fiorot COSTALONGA et al. 2009. A homozygous mutation in the promoter region of growth hormone gene (gh1) in 3 sibling is associated with isolated growth hormone deficiency (ighd). In: The endocrine society?s 91st annual meeting. Estados Unidos.
  70. Health Sciences Pediatrics, Perinatology and Child Health
    Patrícia N PUGLIESE; Jean Philippe FORTIN; Yuantee ZHU; Berenice Bilharinho MENDONÇA; Ivo Jorge Prado ARNHOLD et al. 2009. Three novel mutations in the growth hormone secretagogue receptor (ghsr) gene associated with constitutional delay in growth and puberty. In: Lwpes/epes 8th joint meeting of pediatric endocrinology. Estados Unidos.
  71. Health Sciences Genetics (clinical)
    Marcela M FRANÇA; Alexander Augusto De Lima JORGE; Everlayny Fiorot COSTALONGA; Luciani R S CARVALHO; Berenice Bilharinho MENDONÇA et al. 2009. A novel gli2 mutation p.l788fsx794 associated with combined pituitary hormone deficiency and polydactyly without holoprosencephaly. In: Lwpes/epes 8th joint meeting of pediatric endocrinology. Estados Unidos.
  72. Health Sciences Genetics (clinical)
    Everlayny Fiorot COSTALONGA; Rocio R D COLETTA; Sonir R R ANTONINI; Gil Guerra JUNIOR; Ivo Jorge Prado ARNHOLD et al. 2009. Analysis of the effect of a polymorphic ca repeat in the promoter region of igf1 gne on the growth response to rhgh therapy in patients with severe growth hormone deficiency. In: Lwpes/epes 8th joint meeting of pediatric endocrinology. Estados Unidos.
  73. Health Sciences Genetics (clinical)
    Alexsandra C MALAQUIAS; Amanda S BRASIL; Luciana T WANDERLEY; Alexandre C PEREIRA; Ivo Jorge Prado ARNHOLD et al. 2009. The g allele at kras ivs4 +92 is associated with higher frequency of congenital heart disease and severity of short stature in noonan syndrome patients with ptpn11 mutations. In: Lwpes/epes 8th joint meeting of pediatric endocrinology. Estados Unidos.
  74. Health Sciences Genetics (clinical)
    Everlayny Fiorot COSTALONGA; Marcela M FRANÇA; Gil Guerra JUNIOR; Frederico MARCHISOTTI; Berenice Bilharinho MENDONÇA et al. 2008. Growth hormone (gh) pharmacogenetics: influence of a polymorphism in igfbp3 promoter region on the first year growth velocity of patients with gh deficiency treated with hgh. In: The endocrine society's 90th annual meeting - endo 08. Brasil.
  75. Life Sciences Genetics
    Emilia PINTO; Diogo MEYER; Zvi LARON; Durval DAMIANI; Thereza S S LINS et al. 2008. Founder effect of e180splice mutation in ghr gene from brazilian and moroccan families with laron syndrome. In: The endocrine society's 90th annual meeting - endo 08. Brasil.
  76. Life Sciences Genetics
    Michael DERR; P FANG; Alexander Augusto De Lima JORGE; S K SINHA; S TEN et al. 2008. Identification of two novel heterozygous mutations in exon 10 of the ghr gene: effects on growth hormone (gh) action and post-natal growth. In: The endocrine society's 90th annual meeting - endo 08. Brasil.
  77. Life Sciences Neurology
    Luciana R MONTENEGRO; Débora Cabral COUTINHO; Berenice Bilharinho MENDONÇA; Ivo Jorge Prado ARNHOLD; Alexander Augusto De Lima JORGE. 2008. Impaired postreceptor igf-1 signaling in skin fibroblasts from children born small for gestational age (sga). In: The endocrine society's 90th annual meeting - endo 08. Estados Unidos.
  78. Health Sciences Medicine (miscellaneous)
    Karina BERGER; Rocio R D COLETTA; Alexander Augusto De Lima JORGE; Paulo PACHI; Carlos Alberto LONGUI et al. 2008. No influence of gly972arg polymorphism in insulin receptor substrat-1 (irs-1) in the birth size and catch up growth in small for gestational age (sga) brazilian children. In: The endocrine society's 90th annual meeting - endo 08. Estados Unidos.
  79. Life Sciences Genetics
    Mariana F A FUNARI; Alexander Augusto De Lima JORGE; Silvia C SOUZA; Emilia PINTO; Berenice Bilharinho MENDONÇA et al. 2008. Comparison between the fluorescence in situ hypridization technique and microsatellite analysis for identification of shox deletions in patients with disproportional short stature or leri-weill dyschondrosteosis. In: The endocrine society's 90th annual meeting - endo 08. Estados Unidos.
  80. Life Sciences Endocrinology
    Madson Q ALMEIDA; Maria Cândida FRAGOSO; Marisa GERDULO; Miriam Y NISHI; Marcia Helena COSTA et al. 2008. Insulin-like growth factor-i receptor is a promising therapautic target for human adrenocortical carcinoma. In: The endocrine society's 90th annual meeting - endo 08. Estados Unidos.
  81. Health Sciences Pediatrics, Perinatology and Child Health
    Everlayny Fiorot COSTALONGA; Sonir R R ANTONINI; Gil Guerra JUNIOR; Berenice Bilharinho MENDONÇA; Ivo Jorge Prado ARNHOLD et al. 2008. The -202 a allele of insulin-like growth factor binding protein-3 (igfbp3) promoter polymorphism is associated with higher igfbp-3 serum levels and better growth response to growth hormone treatment in patients with severe gh deficiency. In: Xx reunión anual sociedad latinoamericana da endocrinología pediátrica. Peru.
  82. Life Sciences Neurology
    Luciana R MONTENEGRO; Débora Cabral COUTINHO; Ivo Jorge Prado ARNHOLD; Berenice Bilharinho MENDONÇA; Alexander Augusto De Lima JORGE. 2008. Impaired postreceptor igf-1 signaling in skin fibroblasts from children born small for gestational age (sga). In: Xx reunión anual sociedad latinoamericana da endocrinología pediátrica. Peru.
  83. Life Sciences Genetics
    Débora Cabral COUTINHO; Luciana R MONTENEGRO; Andrea De Castro LEAL; Durval DAMIANI; Berenice Bilharinho MENDONÇA et al. 2008. Two novel mutations (p.g6r and p.r510w) in igf1r gene in children born small for gestational age (sga) without catch-up growth. In: Xx reunión anual sociedad latinoamericana da endocrinología pediátrica. Peru.
  84. Life Sciences Genetics
    Marcela M FRANÇA; Everlayny Fiorot COSTALONGA; Miriam Y NISHI; Luciani R S CARVALHO; Berenice Bilharinho MENDONÇA et al. 2008. Complete gh1 gene deletion detected by multiplex ligation dependent probe amplification (mlpa) in patients with congenital growth hormone deficiency type ia. In: Xx reunión anual sociedad latinoamericana da endocrinología pediátrica. Peru.
  85. Health Sciences Neurology (clinical)
    Alexsandra C MALAQUIAS; Enecy M BERENLHA; Roseli UETI; Suely OLIVEIRA; Ivo Jorge Prado ARNHOLD et al. 2008. Abnormal sitting height : height ratio is more common in children with isolated shox gene defects than in girls with turner syndrome. In: 13th international congress of endocrinology. Brasil.
  86. Life Sciences Genetics
    Mariana F A FUNARI; Alexander Augusto De Lima JORGE; Ivo Jorge Prado ARNHOLD; Emilia PINTO; Berenice Bilharinho MENDONÇA et al. 2008. Intragenic deletion of the shox gene in a family with léri-weill dyschondrosteosis detected by multiplex ligation-dependent probe amplification (mlpa). In: 13th international congress of endocrinology. Brasil.
  87. Health Sciences Genetics (clinical)
    Débora Cabral COUTINHO; Luciana R MONTENEGRO; Durval DAMIANI; Berenice Bilharinho MENDONÇA; Ivo Jorge Prado ARNHOLD et al. 2008. A novel mutation (p.r510w) in igf1r gene in a child born small for gestational age without catch-up growth. In: 13th international congress of endocrinology. Brasil.
  88. Health Sciences Pediatrics, Perinatology and Child Health
    Renata C SCALCO; Suzana S MELO; Patrícia N PUGLIESE; Alexander Augusto De Lima JORGE; Berenice Bilharinho MENDONÇA et al. 2008. Similar growth responses in the first year of growth hormone therapy in prepubertal children born small for gestational age and children with idiopathic short stature. In: 13th international congress of endocrinology. Brasil.
  89. Social Sciences & Humanities Psychology (miscellaneous)
    Marcela M FRANÇA; Everlayny Fiorot COSTALONGA; Alexander Augusto De Lima JORGE; Luciani R S CARVALHO; Berenice Bilharinho MENDONÇA et al. 2008. Late growth hormone treatment of patients with severe growth hormone deficiency results in achievement of final height within target height range. In: 13th international congress of endocrinology. Brasil.
  90. Life Sciences Neuroscience (miscellaneous)
    Rocio R D COLETTA; Alexander Augusto De Lima JORGE; Paulo PACHI; Carlos Alberto LONGUI; Margaret BOGUSZEWSKI et al. 2008. Analysis of igf2 gene p4 promoter region in children born small for gestational age. In: The endocrine society's 90th annual meeting - endo 08. Estados Unidos.
  91. Social Sciences & Humanities Psychology (miscellaneous)
    Rocio R D COLETTA; Silvia C SOUZA; Alexander Augusto De Lima JORGE; Paulo PACHI; Ricardo M GARCIA et al. 2007. Determinação dos fatores preditivos da recuperação estatural em crianças nascidas pequenas para idade gestacional. In: 7o congresso paulista de endocrinologia e metabologia (copem). Brasil.
  92. Health Sciences Medicine (miscellaneous)
    Karina BERGER; Frederico MARCHISOTTI; Everlayny Fiorot COSTALONGA; Berenice Bilharinho MENDONÇA; Ivo Jorge Prado ARNHOLD et al. 2007. Deficiência evolutiva das gonadotrofinas e do acth em pacientes com deficiência isolada de hormônio de crescimento (digh) decorrente da deleção do gh1. In: 7o congresso paulista de endocrinologia e metabologia (copem). Brasil.
  93. Health Sciences Genetics (clinical)
    Mariana F A FUNARI; Alexander Augusto De Lima JORGE; Silvia C SOUZA; Berenice Bilharinho MENDONÇA; Miriam Y NISHI. 2007. Identificação de deleções do gene shox em pacientes com baixa estatura desproporcionada ou discondrosteose de leri-weill: comparação da técnica de hibridação in situ com fluorescência e análise de microssatélites. In: 7o congresso paulista de endocrinologia e metabologia (copem). Brasil.
  94. Health Sciences Genetics (clinical)
    Madson Q ALMEIDA; Marisa GERDULO; Alexander Augusto De Lima JORGE; Miriam Y NISHI; Marcia Helena COSTA et al. 2007. Hiperexpressão dos genes igf2 e igf1r em tumores adrenocorticais de crianças e adultos: implicações na predição de metástases e identificação de novas estratégias terapêuticas. In: 7o congresso paulista de endocrinologia e metabologia (copem). Brasil.
  95. Health Sciences Pediatrics, Perinatology and Child Health
    Débora C Cabral LIBÓRIO; Luciana R MONTENEGRO; Rocio R D COLETTA; Elaine Maria Frade COSTA; Paulo PACHI et al. 2007. Presence of several polyadenylation signal polymorphisms in igf1 gene of children born small for gestational age with and without catch-up growth. In: The 89th annual meeting of the endocrine society. Canadá.
  96. Health Sciences Pediatrics, Perinatology and Child Health
    Marcos T K TOYOSHIMA; Luciana A CASTRONEVES; Everlayny Fiorot COSTALONGA; Berenice Bilharinho MENDONÇA; Ivo Jorge Prado ARNHOLD et al. 2007. Exon 3-deleted growth hormone receptor polymorphism (ghrd3) positively influences igf-1 increase at generation test in children with short stature. In: The 89th annual meeting of the endocrine society. Canadá.
  97. Health Sciences Genetics (clinical)
    Alexander Augusto De Lima JORGE; Regina Matsunaga MARTIN; Karina BERGER; Everlayny Fiorot COSTALONGA; Luciana R MONTENEGRO et al. 2007. First report of familial isolated growth hormone deficiency (ughd) caused by a homozygous mutation in the promoter region of growth hormone gen (gh1). In: The 89th annual meeting of the endocrine society. Canadá.
  98. Life Sciences Genetics
    Emilia PINTO; Eliana St FRAZZATTO; Sandra M F VILLARES; Ivo Jorge Prado ARNHOLD; Berenice Bilharinho MENDONÇA et al. 2007. Absence of mutation in the mc4r gene in children with idiopathic short stature and low body mass index. In: The 89th annual meeting of the endocrine society. Canadá.
  99. Health Sciences Pediatrics, Perinatology and Child Health
    Rocio R D COLETTA; Ricardo M GARCIA; Alexander Augusto De Lima JORGE; Silvia C SOUZA; Emilia PINTO et al. 2007. Prediction factors in the determination of postnatal growth pattern in infants born small for gestational age (sga). In: The 89th annual meeting of the endocrine society. Canadá.
  100. Life Sciences Genetics
    Karina BERGER; Frederico MARCHISOTTI; Everlayny Fiorot COSTALONGA; Berenice Bilharinho MENDONÇA; Ivo Jorge Prado ARNHOLD et al. 2007. Evolving gonadotropin and acth deficiencies in patient with growth hormone deficiency to gh1 gene deletion. In: The 89th annual meeting of the endocrine society. Canadá.
  101. Health Sciences Pediatrics, Perinatology and Child Health
    Débora Cabral COUTINHO; Rocio R D COLETTA; Elaine Maria Frade COSTA; Margaret BOGUSZEWSKI; Paulo PACHI et al. 2007. Presence of several polyadenylation signal polymorphism in igf1 gene of children born small for gestational age (sga) with and without postnatal catch-up growth. In: Xix reunión anual de sociedad latino-americana de endocrinologia pediatrica (slep). Argentina.
  102. Life Sciences Genetics
    Mariana F A FUNARI; Alexander Augusto De Lima JORGE; Silvia C SOUZA; Berenice Bilharinho MENDONÇA; Miriam Y NISHI. 2007. Identification of shox gene deletions in patients with disproportional short stature or leri-weill dyschondrosteosis: comparison between the fish technique and microssatelite study. In: Xix reunión anual de sociedad latino-americana de endocrinologia pediatrica (slep). Argentina.
  103. Life Sciences Neurology
    Lize Vargas FERREIRA; Luciana R MONTENEGRO; Ivo Jorge Prado ARNHOLD; Berenice Bilharinho MENDONÇA; Alexander Augusto De Lima JORGE. 2007. Mutation in ptpn11 gene are a common cause of noonan syndrome (ns) but are not found in children with idiopatic short stature and ns-associated signs. In: Xix reunión anual de sociedad latino-americana de endocrinologia pediatrica (slep). Argentina.
  104. Life Sciences Cancer Research
    Madson Q ALMEIDA; Marisa GERDULO; Alexander Augusto De Lima JORGE; Miriam Y NISHI; Antonio Carlos LERÁRIO et al. 2007. A selective igf-1 receptor kinase inhibitor (nvp-aew541) supresses proliferation of the human adrenocortical cancer cell line nci h295 due to apoptosis induction. In: Xix reunión anual de sociedad latino-americana de endocrinologia pediatrica (slep). Argentina.
  105. Life Sciences Genetics
    Alexander Augusto De Lima JORGE; Lize Vargas FERREIRA; Luciana R MONTENEGRO; Ivo Jorge Prado ARNHOLD; Berenice Bilharinho MENDONÇA. 2007. Mutações no gene do ptpn11 são uma causa comum de síndrome de noonan (sn); mas não são observadas em crianças com baixa estatura idiopática que apresentam características clínicas descritas na sn. In: Vii congresso brasileiro pediátrico de endocrinologia e metabologia. Brasil.
  106. Life Sciences Genetics
    Débora Cabral COUTINHO; Rocio R D COLETTA; Elaine Maria Frade COSTA; Paulo PACHI; Margaret BOGUSZEWSKI et al. 2007. Presença de polimorfismo na região de poliadenilação no gene do igf1 em crianças nascidas pequenas para a idade gestacional (pig) com e sem recuperação espontânea do crescimento na vida pós-natal. In: Vii congresso brasileiro pediátrico de endocrinologia e metabologia. Brasil.
  107. Health Sciences Medicine (miscellaneous)
    Everlayny Fiorot COSTALONGA; Marcela M FRANÇA; Karina BERGER; Frederico MARCHISOTTI; Berenice Bilharinho MENDONÇA et al. 2007. Crianças com deficiência de hormônio de crescimento isolada (dghi) ou associada a deficiência hipofisária múltipla (dhm) apresentam respostas semelhantes ao tratamento com hgh. In: Vii congresso brasileiro pediátrico de endocrinologia e metabologia. Brasil.
  108. Life Sciences Genetics
    Rocio R D COLETTA; Ricardo M GARCIA; Alexander Augusto De Lima JORGE; Margaret BOGUSZEWSKI; Emilia PINTO et al. 2006. Role of igf1 gene (ca)n repeats on birth lenght and weight; catch up growth and igf-1 serum level in brazilian sga infants. In: 88nd annual meeting the endocrine society. Estados Unidos.
  109. Health Sciences Medicine (miscellaneous)
    Alexander Augusto De Lima JORGE; Luciana R MONTENEGRO; Cecilia Camacho HÜBNER; Ivo Jorge Prado ARNHOLD; Berenice Bilharinho MENDONÇA. 2006. Igf-1 response of fibroblasts from noonan syndrome patients harboring constitutionally active shp-2 protein. In: 88th annual meeting of endocrine society. Estados Unidos.
  110. Health Sciences Genetics (clinical)
    Débora C Cabral LIBÓRIO; Silvia C SOUZA; Miriam Y NISHI; Ana Elisa C BILLERBECK; Ivo Jorge Prado ARNHOLD et al. 2006. Auxological study of patients with shox defect and the response of combined treatment with recombinant growth hormone and gonadotropin-releasing hormone analog. In: 88th annual meeting of endocrine society. Estados Unidos.
  111. Health Sciences Medicine (miscellaneous)
    Alexander Augusto De Lima JORGE; Silvia C SOUZA; Débora C Cabral LIBÓRIO; Miriam Y NISHI; Ana Elisa C BILLERBECK et al. 2006. Freqüência de mutações no gene shox em crianças com baixa estatura idiopática (bei): a importância da relação altura sentada altura total na seleção de pacientes para o estudo molecular. In: 27o congresso brasileiro de endocrinologia e metabologia. Brasil.
  112. Health Sciences Pediatrics, Perinatology and Child Health
    Alexander Augusto De Lima JORGE; Marcos T K TOYOSHIMA; Luciana A CASTRONEVES; Frederico MARCHISOTTI; Maria SOARES et al. 2006. Comparação da velocidade de crescimento e do ganho de altura de criança pré-puberes com diversas causas de baixa estatura tratadas com hormônio de crescimento recombinante humano por um ano. In: 27o congresso brasileiro de endocrinologia e metabologia. Brasil.
  113. Health Sciences Medicine (miscellaneous)
    Luciana A CASTRONEVES; Marcos T K TOYOSHIMA; Ivo Jorge Prado ARNHOLD; Berenice Bilharinho MENDONÇA; Alexander Augusto De Lima JORGE. 2006. Influência da presença ou ausência do exon 3 do receptor de gh (ghr) no teste de geração de igf-1 e igfbp-3 em criança com baixa estatura idiopática e nascidas pequenas para a idade gestacional. In: 27o congresso brasileiro de endocrinologia e metabologia. Brasil.
  114. Life Sciences Neurology
    Alexander Augusto De Lima JORGE; Silvia C SOUZA; Débora C Cabral LIBÓRIO; Miriam Y NISHI; Ana Elisa C BILLERBECK et al. 2006. Frequency of shox mutation in idiopathic short stature. In: Xviii reunion anual sociedad latinoamericana de endocrinologia pediatrica (slep). Chile.
  115. Health Sciences Medicine (miscellaneous)
    Alexander Augusto De Lima JORGE; Luciana R MONTENEGRO; Ivo Jorge Prado ARNHOLD; Berenice Bilharinho MENDONÇA. 2006. Igf-1 response of fibroblasts from noonan syndrome patients harboring constitutionally active shp-2 protein. In: Xviii reunion anual sociedad latinoamericana de endocrinologia pediatrica (slep). Chile.
  116. Health Sciences Pediatrics, Perinatology and Child Health
    Luciana R MONTENEGRO; Débora C Cabral LIBÓRIO; Ivo Jorge Prado ARNHOLD; Berenice Bilharinho MENDONÇA; Alexander Augusto De Lima JORGE. 2006. Absence of mutation in the promoter stst5b binding sites of the insulin-like growth factor-1 (igf-1) gene in patients born small for gestational age (sga) or with idiopathic short stature. In: Xviii reunion anual sociedad latinoamericana de endocrinologia pediatrica (slep). Chile.
  117. Life Sciences Genetics
    Alexander Augusto De Lima JORGE; Luciana R MONTENEGRO; Lize Vargas FERREIRA; Ivo Jorge Prado ARNHOLD; Berenice Bilharinho MENDONÇA. 2005. Studies of igf-1 sensitivity in children with noonan syndrome with and whitout mutation in ptpn11 gene. In: 2o simpósio de avanços em pesquisas médicas dos laboratórios de investigação médicas do hc-fmusp. Brasil.
  118. Health Sciences Genetics (clinical)
    Alexander Augusto De Lima JORGE; Luciana R MONTENEGRO; Lize Vargas FERREIRA; Ivo Jorge Prado ARNHOLD; Berenice Bilharinho MENDONÇA. 2005. Estudo da sensibilidade de fibroblastos de pacientes com síndrome de noonan com e sem mutação no ptpn11 ao igf-1 in vitro. In: 6o congresso paulista de endocrinologia e metabologia (copem). Brasil.
  119. Health Sciences Medicine (miscellaneous)
    Alexander Augusto De Lima JORGE. 2005. Insensibilidade ao gh (igh). In: Congresso brasileiro de atualização em endocrinologia e metabologia. Brasil.
  120. Health Sciences Pediatrics, Perinatology and Child Health
    Alexander Augusto De Lima JORGE; Cecilia Camacho HÜBNER; Luciana R MONTENEGRO; Ivo Jorge Prado ARNHOLD; Berenice Bilharinho MENDONÇA. 2005. Igf-i responsiveness in children with noonan syndrome with and without mutation in ptpn11 gene: in vitro studies. In: Espe/lwpes 7th joint meeting paediatric endocrinology. França.
  121. Health Sciences Genetics (clinical)
    Alexander Augusto De Lima JORGE; Frederico MARCHISOTTI; Luciana R MONTENEGRO; Manuela G M ROCHA; Berenice Bilharinho MENDONÇA et al. 2005. Growth hormone (gh) phamacogenetics: exon 3 deleted isoform of gh receptor determines a better first year growth response and final height in patients with gh deficiency treated with gh. In: Espe/lwpes 7th joint meeting paediatric endocrinology. França.
  122. Health Sciences General Medicine
    Maria SOARES; Ivo Jorge Prado ARNHOLD; Gilda D AGOSTINO; Suely OLIVEIRA; Elaine Maria Frade COSTA et al. 2005. Prediction model for the growth response to the first year of growth hormone (gh) therapy in turner syndrome (ts): lack of influence of polymorphisms in exon 3 of gh receptor gene (ghr). In: Espe/lwpes 7th joint meeting paediatric endocrinology. França.
  123. Life Sciences Genetics
    Alexander Augusto De Lima JORGE; Lize Vargas FERREIRA; Silvia C SOUZA; Ivo Jorge Prado ARNHOLD; Berenice Bilharinho MENDONÇA. 2005. Patients with noonan syndrome without mutation in ptpn11 respond better to gh treatment than patients with ptpn11 mutations. In: 85th annual meeting the endocrine society. Estados Unidos.
  124. Health Sciences Genetics (clinical)
    Débora C Cabral LIBÓRIO; Lize Vargas FERREIRA; Eveline G P SILVA; Frederico MARCHISOTTI; Ivo Jorge Prado ARNHOLD et al. 2005. Sensibilidade e especificidade das dosagens de igf-1 e igfbp-3 no diagnóstico de deficiência de hormônio de crescimento. In: Vi congresso brasileiro pediátrico de endocrinologia e metabologia. Brasil.
  125. Health Sciences Medicine (miscellaneous)
    Camila R GOMES; Débora C Cabral LIBÓRIO; Ivo Jorge Prado ARNHOLD; Berenice Bilharinho MENDONÇA; Alexander Augusto De Lima JORGE. 2005. Redução da sensibilidade à insulina em pacientes sem deficiência de gh tratados com hgh por baixa estatura. In: Vi congresso brasileiro pediátrico de endocrinologia e metabologia. Brasil.
  126. Health Sciences Obstetrics and Gynecology
    Cecilia Camacho HÜBNER; Alexander Augusto De Lima JORGE; F Miraki MOUD; G BUTLER; R P WILLIG et al. 2004. Effect of puberty on serum igf-i; igfbp-3 and als in patients with growth hormone insensitivity syndrome. In: Second international gh-igf symposium. Austrália.
  127. Life Sciences Genetics
    Alexander Augusto De Lima JORGE; Ivo Jorge Prado ARNHOLD; Thereza S S LINS; Cecilia Camacho HÜBNER; Durval DAMIANI et al. 2004. Molecular studies of four unrelated brazilian families with laron syndrome: the recurrence of ecuadorean-e180splice mutation. In: Second international gh-igf symposium. Austrália.
  128. Health Sciences Genetics (clinical)
    Alexander Augusto De Lima JORGE; Francisco BANDEIRA; Berenice Bilharinho MENDONÇA; Ivo Jorge Prado ARNHOLD. 2004. A novel nonsense mutation in growth hormone receptor gene (y5x) in a brazilian patient with laron syndrome. In: Xvii reunion anual sociedad latinoamericana de endocrinologia pediatrica (slep). Brasil.
  129. Life Sciences Clinical Biochemistry
    Hamilton C Menezes FILHO; Durval DAMIANI; Alexander Augusto De Lima JORGE; Vaê DICHTCHEKENIAN; Thais Della MANNA et al. 2004. Study of bone mineral metabolism and bone mineral density in children with laron syndrome: evidence for normal bone mineral accretion. In: Xvii reunion anual sociedad latinoamericana de endocrinologia pediatrica (slep). Brasil.
  130. Health Sciences Genetics (clinical)
    Alexander Augusto De Lima JORGE; Hamilton C Menezes FILHO; Thereza S S LINS; Dulce R GUEDES; Durval DAMIANI et al. 2004. Efeito fundador da mutação e180splice no gene do receptor de hormônio de crescimento (ghr) identificada em seis pacientes brasileiros com insensibilidade ao gh. In: 26o congresso brasileiro de endocrinologia e metabologia. Brasil.
  131. Health Sciences Medicine (miscellaneous)
    Alexander Augusto De Lima JORGE; Lize Vargas FERREIRA; Catarina Brasil D ALVA; Silvia C SOUZA; Ivo Jorge Prado ARNHOLD et al. 2004. Efeito do tratamento com hormônio de crescimento recombinante humano em pacientes com síndrome de noonan com e sem mutação no gene ptpn11. In: 26º congresso brasileiro de endocrinologia e metabologia. Brasil.
  132. Health Sciences Health Professions (miscellaneous)
    Marcia Helena COSTA; Sorahia DOMENICE; Regina Matsunaga MARTIN; Alexander Augusto De Lima JORGE; Antonio Carlos LERÁRIO et al. 2004. Síndrome de nelson: relato de um caso de má evolução; resistente à múltiplas estratégias terapêuticas. In: 26º congresso brasileiro de endocrinologia e metabologia. Brasil.
  133. Health Sciences Medicine (miscellaneous)
    Alexander Augusto De Lima JORGE; Catarina Brasil D ALVA; M S C DOURADO; Lize Vargas FERREIRA; Ivo Jorge Prado ARNHOLD et al. 2004. Tratamento com hormônio de crescimento em crianças com baixa estatura idipática. In: 26o congresso brasileiro de endocrinologia e metabologia. Brasil.
  134. Social Sciences & Humanities Psychology (miscellaneous)
    Alexander Augusto De Lima JORGE; Lize Vargas FERREIRA; Silvia C SOUZA; Eveline G P SILVA; Luciani R S CARVALHO et al. 2003. A determinação dos valores de igf-i e igfbp-3 deve ser o teste inicial no diagnóstico diferencial da deficiência de crescimento. In: V congresso paulista de endocrinologia e metabologia (copem). Brasil.
  135. Health Sciences Genetics (clinical)
    Alexander Augusto De Lima JORGE; Silvia C SOUZA; Chin Jia LIN; Ivo Jorge Prado ARNHOLD; Berenice Bilharinho MENDONÇA. 2003. Mutação no gene do receptor de hormônio de crescimento em crianças com baixa estatura idiopática. In: V congresso paulista de endocrinologia e metabologia (copem). Brasil.
  136. Health Sciences Medicine (miscellaneous)
    Thais Della MANNA; Durval DAMIANI; Vaê DICHTCHEKENIAN; Hilton KUPERMAN; Alexander Augusto De Lima JORGE et al. 2003. Deficiência de gh tipo 1a - apresentação de um caso com retardo de crescimento intra-uterino e resistência precoce ao tratamento com rhgh. In: V congresso paulista de endocrinologia e metabologia (copem). Brasil.
  137. Life Sciences Genetics
    Lize Vargas FERREIRA; Silvia C SOUZA; Ivo Jorge Prado ARNHOLD; Berenice Bilharinho MENDONÇA; Alexander Augusto De Lima JORGE. 2003. Lack of mutations in the hot spot region of ptpn11 gene in children with idiopathic short stature. In: 85th annual meeting the endocrine society. Estados Unidos.
  138. Life Sciences Biochemistry, Genetics and Molecular Biology (miscellaneous)
    Silvia C SOUZA; Alexander Augusto De Lima JORGE; Lize Vargas FERREIRA; Ivo Jorge Prado ARNHOLD; Berenice Bilharinho MENDONÇA. 2003. Screening of ptpn11 mutations in brazilian patients with noonan syndrome: identification of novel mutation (n58d). In: 85th annual meeting the endocrine society. Estados Unidos.
  139. Health Sciences Medicine (miscellaneous)
    Alexander Augusto De Lima JORGE; Chin Jia LIN; Silvia C SOUZA; Ivo Jorge Prado ARNHOLD; Berenice Bilharinho MENDONÇA. 2003. Screening for ghr mutations in children with idiopathic short stature (iss): identification of two novel mutation (n103s and r368c). In: 85th annual meeting the endocrine society. Estados Unidos.
  140. Health Sciences Neurology (clinical)
    Mirta KNOEPFELMACHER; Maria Cândida FRAGOSO; Sorahia DOMENICE; Regina Matsunaga MARTIN; Miriam C GOMES et al. 2002. Effects of long-acting somatostatin analog octreotide (oct-lar) on acromegaly in mccune albright syndrome (mcas). In: 84th annual meeting the endocrine society. Estados Unidos.
  141. Life Sciences Genetics
    Alexander Augusto De Lima JORGE; Chin Jia LIN; Silvia C SOUZA; Ivo Jorge Prado ARNHOLD; Berenice Bilharinho MENDONÇA. 2002. A new mutation in ghr gene located in wsxws-like motif in a child with laron syndrome. In: 84th annual meeting the endocrine society. Estados Unidos.
  142. Life Sciences Neuroscience (miscellaneous)
    Karina BERGER; Silvia C SOUZA; Lize Vargas FERREIRA; Viviane C CAMPOS; Ivo Jorge Prado ARNHOLD et al. 2002. Ganho estatural após primeiro ano de tratamento com gh em crianças pré-púberes com baixa estatura idiopática é inversamente proporcional aos níveis de igf-i. In: Xv reunion anual sociedad latinoamericana de endocrinologia pediatrica (slep). Uruguai.
  143. Life Sciences Genetics
    Alexander Augusto De Lima JORGE; Silvia C SOUZA; Chin Jia LIN; Ivo Jorge Prado ARNHOLD; Berenice Bilharinho MENDONÇA. 2002. Primeira mutação descrita no wsxws-like motif do gene do receptor do hormônio de crescimento em um paciente com síndrome de laron. In: 25o congresso brasileiro de endocrinologia e metabologia. Brasil.
  144. Health Sciences Medicine (miscellaneous)
    Lize Vargas FERREIRA; Alexander Augusto De Lima JORGE; Karina BERGER; Viviane C CAMPOS; Ivo Jorge Prado ARNHOLD et al. 2002. Resultados preliminares do tratamento co hgh em pacientes com síndrome de noonan. In: 25o congresso brasileiro de endocrinologia e metabologia. Brasil.
  145. Health Sciences Medicine (miscellaneous)
    Ivo Jorge Prado ARNHOLD; Maria Geralda F OSORIO; Suemi MARUI; Luciani R S CARVALHO; Miriam Y NISHI et al. 2002. Ressonância magnética e funçãohhipofisária em pacientes com deficiência de gh com e sem mutações no genes gh-1; receptor de ghrh; prop-1 e hesx-1. In: 25o congresso brasileiro de endocrinologia e metabologia. Brasil.
  146. Health Sciences Genetics (clinical)
    Silvia C SOUZA; Alexander Augusto De Lima JORGE; Lize Vargas FERREIRA; Ivo Jorge Prado ARNHOLD; Berenice Bilharinho MENDONÇA. 2002. Pesquisa de mutações na região hot spot do gene ptpn-11 em pacientes brasileiros com síndrome de noonan. In: 25o congresso brasileiro de endocrinologia e metabologia. Brasil.
  147. Life Sciences Genetics
    Silvia C SOUZA; Alexander Augusto De Lima JORGE; D B BERTOLA; C A KIM; Suemi MARUI et al. 2002. Estudo das mutações e deleções do gene shox em pacientes com baixa estatura idiopática; discondroteose e síndrome de noonan. In: 25o congresso brasileiro de endocrinologia e metabologia. Brasil.
  148. Health Sciences Genetics (clinical)
    Alexander Augusto De Lima JORGE; Chin Jia LIN; Silvia C SOUZA; Ivo Jorge Prado ARNHOLD; Berenice Bilharinho MENDONÇA. 2001. Absence of inactivating mutations in the gh receptor gene (ghr) in children with idiopathic short stature (iss) and low levels of igf-i and/or igfbp-3. In: 6th joint meeting of the lwpes and european society for pediatric endocrinology. Canadá.
  149. Health Sciences Psychiatry and Mental Health
    Alexander Augusto De Lima JORGE; Silvia C SOUZA; Ivo Jorge Prado ARNHOLD; Berenice Bilharinho MENDONÇA. 2001. Poor reproducibility of igf-i and igfbp-3 generation test in children with short stature. In: 6th joint meeting of the lwpes and european society for pediatric endocrinology. Canadá.
  150. Health Sciences Medicine (miscellaneous)
    Alexander Augusto De Lima JORGE; Silvia C SOUZA; Ivo Jorge Prado ARNHOLD; Berenice Bilharinho MENDONÇA. 2000. Ausência de mutações inativadoras na região hot spot do receptor de gh em crianças com baixa estatura idiopática. In: 24o congresso brasileiro de endocrinologia e metabologia. Brasil.
  151. Health Sciences Neurology (clinical)
    Luciani R S CARVALHO; Maria Geralda F OSORIO; Vivian ESTEFAN; Alexander Augusto De Lima JORGE; M E J FARIA et al. 2000. Acromegalic features noted after long term hgh treatment in patiens with growth hormone deficiency or turner syndrome. In: Xiv reunion anual sociedad latinoamericana de endocrinologia pediatrica (slep). Argentina.
  152. Life Sciences Neuroscience (miscellaneous)
    Karla Fabiana F S MELO; Regina Matsunaga MARTIN; Alexander Augusto De Lima JORGE; Ivo Jorge Prado ARNHOLD; Berenice Bilharinho MENDONÇA. 2000. Hipospadia perineal: novo fenótipo da síndrome de frasier causada pela mutação ivs9ds +4c>t. In: Xiv reunion anual sociedad latinoamericana de endocrinologia pediatrica (slep). Argentina.
  153. Life Sciences Neurology
    Silvia C SOUZA; Alexander Augusto De Lima JORGE; Miriam Y NISHI; Ana Elisa C BILLERBECK; Ana Claudia LATRONICO et al. 2000. Absence of point mutation in exons 3 and 4 of shox gene in patients with noonan syndrome. In: 82nd annual meeting the endocrine society. Canadá.
  154. Life Sciences Endocrinology
    Alexander Augusto De Lima JORGE; Silvia C SOUZA; Ivo Jorge Prado ARNHOLD; Berenice Bilharinho MENDONÇA. 2000. Absence of inactivating in the hot spot region of growth hormone receptor gene in children with idiopathic short stature and low igf-i and or igfbp-3 levels. In: 82nd annual meeting the endocrine society. Canadá.
  155. Health Sciences Radiology, Nuclear Medicine and Imaging
    Luciani R S CARVALHO; Maria Geralda F OSORIO; Alexander Augusto De Lima JORGE; Ivo Jorge Prado ARNHOLD; Berenice Bilharinho MENDONÇA. 2000. Long-term hgh therapy causing acromegalic features in patientswith gh deficiency or turner syndrome. In: 82nd annual meeting the endocrine society. Estados Unidos.
  156. Social Sciences & Humanities Psychology (miscellaneous)
    Alexander Augusto De Lima JORGE; Silvia C SOUZA; Ivo Jorge Prado ARNHOLD; Berenice Bilharinho MENDONÇA. 2000. Igf-i and igfbp-3 generation test in the evaluation of short stature. In: 82nd annual meeting the endocrine society. Canadá.
  157. Health Sciences Medicine (miscellaneous)
    Karla Fabiana F S MELO; Regina Matsunaga MARTIN; Elaine Maria Frade COSTA; Alexander Augusto De Lima JORGE; Ivo Jorge Prado ARNHOLD et al. 2000. An unusual phenotype in male patient with frasier syndrome due to ivs9ds+4c>t mutations perineal hypospadias. In: 82nd annual meeting the endocrine society. Canadá.
  158. Life Sciences Genetics
    Silvia C SOUZA; Alexander Augusto De Lima JORGE; Ivo Jorge Prado ARNHOLD; Berenice Bilharinho MENDONÇA. 2000. Ausência de mutações de ponto nos exons 3 e 4 do gene shox em pacientes com síndrome de noonan. In: 24o congresso brasileiro de endocrinologia e metabologia. Brasil.
  159. Social Sciences & Humanities Psychology (miscellaneous)
    Alexander Augusto De Lima JORGE; Silvia C SOUZA; Ivo Jorge Prado ARNHOLD; Berenice Bilharinho MENDONÇA. 1999. Teste de geração de igf-i e igfbp-3 na avaliação da baixa estatura. In: Xiii reunion anual sociedad latinoamericana de endocrinologia pediatrica (slep). Peru.
  160. Health Sciences Genetics (clinical)
    Alexander Augusto De Lima JORGE; Silvia C SOUZA; Ivo Jorge Prado ARNHOLD; Berenice Bilharinho MENDONÇA. 1999. Pesquisa de mutações inativadoras na região hot spot do receptor de gh em crianças com baixa estatura idiopática. In: Xiii reunion anual sociedad latinoamericana de endocrinologia pediatrica (slep). Peru.
  161. Health Sciences Radiology, Nuclear Medicine and Imaging
    Liliane B LICCIARDI; Maria Cândida FRAGOSO; Ana M CHARF; Alexander Augusto De Lima JORGE; Berenice Bilharinho MENDONÇA. 1998. Acromegalia e displasia óssea em um caso de mccune albright: opções terapeuticas. In: 23o congresso brasileiro de endocrinologia e metabologia. Brasil.
  162. Health Sciences Medicine (miscellaneous)
    Chin Jia LIN; Alexander Augusto De Lima JORGE; Ana Claudia LATRONICO; Filomena M CARVALHO; Ivo Jorge Prado ARNHOLD et al. 1998. Expression of adrenal steroidogenic enzymes; acth and lh receptors in an adrenal rest tumor causing isosexual pseudo-precocious puberty (ppp). In: 80th annual meeting the endocrine society. Brasil.
  163. Health Sciences Medicine (miscellaneous)
    Alexander Augusto De Lima JORGE; Karla Fabiana F S MELO; Maria Cecília C ALBANO; Ivo Jorge Prado ARNHOLD; José A M ALMEIDA et al. 1996. Puberdade precoce isossexual por tumor de células esteroidais do ovário. In: Ii congresso paulista de endocrinologia e metabologia (copem). Brasil.
  164. Health Sciences Medicine (miscellaneous)
    Alexander Augusto De Lima JORGE; Walter BLOISE; Antonio Marmo LUCON; Berenice Bilharinho MENDONÇA. 1996. Feocromocitoma vesical; associado a ejaculação precoce. In: Ii congresso paulista de endocrinologia e metabologia (copem). Brasil.
  165. Social Sciences & Humanities Psychology (miscellaneous)
    Alexander Augusto De Lima JORGE; Enecy M L BRENLHA; Domingos MALERBI; Maria Cândida FRAGOSO; Walter BLOISE et al. 1996. Teste do ddavp no diagnóstico diferencial da síndrome de cushing. In: 22o congresso brasileiro de endocrinologia e metabologia. Brasil.
  166. Health Sciences Medicine (miscellaneous)
    Alexander Augusto De Lima JORGE; Regina Matsunaga MARTIN; Ana Paula COSTA; Márcio C MANCINI; Alfredo HALPERN. 1996. Correlação entre cortisol urinário e grau e tipo de obesidade em mulheres. In: 22o congresso brasileiro de endocrinologia e metabologia. Brasil.
  167. Health Sciences Medicine (miscellaneous)
    Ana Paula COSTA; Alexander Augusto De Lima JORGE; Regina Matsunaga MARTIN; Márcio C MANCINI; Alfredo HALPERN. 1996. Correlação entre fatores de risco cardiovascular e relação abdomen-quadril em mulheres obesas. In: 22o congresso brasileiro de endocrinologia e metabologia. Brasil.
  168. Health Sciences Medicine (miscellaneous)
    Márcio C MANCINI; Ana Paula COSTA; Alexander Augusto De Lima JORGE; Regina Matsunaga MARTIN; Alfredo HALPERN. 1996. Correlação entre fatores de risco cardiovascular e cortisol urinário não extraído de 24 horas em mulheres obesas. In: 22o congresso brasileiro de endocrinologia e metabologia. Brasil.
  169. Health Sciences Medicine (miscellaneous)
    Alexander Augusto De Lima JORGE; Karla Fabiana F S MELO; Maria Cecília C ALBANO; Ivo Jorge Prado ARNHOLD; José A M ALMEIDA et al. 1996. Pseudo puberdade precoce por tumor de células esteroidais de ovário. In: X reunion anual sociedad latinoamericana de endocrinologia pediatrica (slep). Argentina.
  170. Health Sciences Medicine (miscellaneous)
    Alexander Augusto De Lima JORGE; Karla LIPARIZI. 1993. Síndrome de hipertensão portal -etiologia e controle da complicação hemorrágica. In: X congresso médico acadêmico da santa casa de são paulo. Brasil.
  1. Health Sciences Psychiatry and Mental Health
    Hokken Koelega Anita C S; Van Der Steen MANOUK; Boguszewski Margaret C S; Cianfarani STEFANO; Dahlgren JOVANNA et al. 2023. International consensus guideline on small for gestational age (sga): etiology and management from infancy to early adulthood. Endocrine reviews. 44, 539-565.
  2. Health Sciences Neurology (clinical)
    Andrade Nathalia Liberatoscioli MENEZES; Cellin Laurana POLLI; Rezende Raissa CARNEIRO; Vasques Gabriela ANDRADE; Alexander Augusto De Lima JORGE. 2023. Idiopathic short stature: what to expect from genomic investigations. Endocrines. 4, 1-17.
  3. Health Sciences Medicine (miscellaneous)
    Tinano Flávia REZENDE; Canton Ana Pinheiro MACHADO; Montenegro Luciana R; De Castro Leal ANDREA; Faria Aline G et al. 2023. Clinical and genetic characterization of familial central precocious puberty. Journal of clinical endocrinology & metabolism. 108, 1758-1767.
  4. Life Sciences Genetics
    Schnöll CAROLINE; Krepischi Ana Cristina VICTORINO; Renck Alessandra COVALLERO; Lima Amato Lorena GUIMARÃES; Kulikowski Leslie DOMENICI et al. 2023. Sin3a defects associated with syndromic congenital hypogonadotropic hypogonadism: an overlap with witteveen-kolk syndrome. Neuroendocrinology. 113, 834-843.
  5. Life Sciences Genetics
    Harris Sarah C; Chong KAREN; Chitayat DAVID; Gilmore Kelly L; Alexander Augusto De Lima JORGE et al. 2023. Diagnosis of ¿associated conditions: expanding the phenotypic spectrum of a complex ciliopathy. American journal of medical genetics part a. 191, 1282-1292.
  6. Health Sciences Neurology (clinical)
    Magrino JOSEPH; Munford VERIDIANA; Martins Davi JARDIM; Homma Thais K; Page BRENDAN et al. 2023. A thermosensitive pcna allele underlies an ataxia telangiectasia-like disorder. Journal of biological chemistry. 299, 104656-.
  7. Health Sciences Neurology (clinical)
    Ferreira Nathalia GBP; Madeira JOAO; Gergics PETER; Kertsz RENATA; Marques Juliana MOREIRA et al. 2023. Homozygous cdh2 variant may be associated with hypopituitarism without neurological disorders. Endocrine connections. 12, e220473-.
  8. Health Sciences Genetics (clinical)
    Leitao Braga BARBARA; Lisboa Gomes NATHALIA; Nishi Mirian Y; Freire Bruna L; Batista Rafael L et al. 2022. Variants in 46;xy dsd-related genes in syndromic and non-syndromic small for gestational age children with hypospadias. Sexual development. 16, 27-33.
  9. Health Sciences Neurology (clinical)
    Rezende Raissa C; Noronha Renata MARIA; Keselman ANA; Quedas Elisangela P S; Dantas Naiara C B et al. 2022. Delayed puberty phenotype observed in noonan syndrome is more pronounced in girls than boys. Hormone research in paediatrics. 95, 51-61.
  10. Health Sciences Genetics (clinical)
    Alexander Augusto De Lima JORGE; Edouard THOMAS; Maghnie MOHAMAD; Pietropoli ALBERTO; Kelepouris NICKY et al. 2022. Outcomes in growth hormone-treated noonan syndrome children: impact of ptpn11 mutation status. Endocrine connections. 11, e210615-.
  11. Life Sciences Genetics
    Campos Franco PEDRO; Santos De Santana LUCAS; Dantas Costa Riquetto ALINE; Santomauro Junior Augusto CEZAR; Alexander Augusto De Lima JORGE et al. 2022. Clinical and genetic characterization and long-term evaluation of individuals with maturity-onset diabetes of the young (mody): the journey towards appropriate treatment. Diabetes research and clinical practice. 187, 109875-.
  12. Health Sciences Psychiatry and Mental Health
    Dantas Naiara C B; Funari Mariana F A; Vasques Gabriela A; Andrade Nathalia L M; Rezende Raíssa C et al. 2022. Adult height of patients with shox haploinsufficiency with or without gh therapy: a real-world single-center study. Hormone research in paediatrics. 95, 264-274.
  13. Health Sciences Genetics (clinical)
    Labello Julia HADDAD; Benedetti Anna Flávia FIGUEREDO; Azevedo Bruna VISCARDI; Alexander Augusto De Lima JORGE; Cescato Valter Angelo SPERLING et al. 2022. Cushing disease due to a somatic usp8 mutation in a patient with evolving pituitary hormone deficiencies due to a germline gh1 splicing variant. Archives of endocrinology metabolism. 66, 104-111.
  14. Life Sciences Genetics
    Lisboa Gomes NATHALIA; Batista Rafael LOCH; Miriam Y NISHI; Lerario ANTONIO; Silva Thatiana E et al. 2022. Contribution of clinical and genetic approaches for diagnosing 209 index cases with 46;xy differences of sex development. Journal of endocrinology and metabolism. 105, e1797-e1806.
  15. Health Sciences Neurology (clinical)
    Griffero MARIANA; Benedetti Anna Flavia FIGUEREDO; Pérez MARCELA; Carvalho LUCIANI; Alexander Augusto De Lima JORGE et al. 2022. Novel otx2 loss of function variant associated with congenital hypopituitarism without eye abnormalities. Journal of pediatric endocrinology and metabolism. 35, 831-835.
  16. Health Sciences Medicine (miscellaneous)
    Carvalho Laura Machado LARA; D Angelo Carla SUSTEK; Villela DARINE; Da Costa Silvia SOUZA; Alexander Augusto De Lima JORGE et al. 2022. Genetic investigation of syndromic forms of obesity. International journal of obesity. 46, 1582-1586.
  17. Life Sciences Genetics
    Freire Bruna LUCHEZE; Homma Thais KATAOKA; Lerario Antônio MARCONDES; Seo Go HUN; Han HEONJONG et al. 2022. High frequency of genetic/epigenetic disorders in short stature children born with very low birth weight. American journal of medical genetics part a. 188, 2599-2604.
  18. Life Sciences Genetics
    Lima Ariadne R; Ferreira Barbara M; Zhang CHAOFAN; Jolly ANGAD; Du HAOWEI et al. 2022. Phenotypic and mutational spectrum of ror2</i> -related robinow syndrome. Human mutation. 43, 900-918.
  19. Life Sciences Clinical Biochemistry
    Narcizo Amanda M; Cardoso Lais C; Benedetti Anna F F; Alexander Augusto De Lima JORGE; Funari Mariana F A et al. 2022. Targeted massively parallel sequencing panel to diagnose genetic endocrine disorders in a tertiary hospital. Clinics. 77, 100132-.
  20. Health Sciences Neurology (clinical)
    Andrade Nathalia Liberatoscioli MENEZES; Funari Mariana Ferreira De ASSIS; Malaquias Alexsandra CHRISTIANNE; Collett Solberg Paulo FERREZ; Gomes Nathalia L R A et al. 2022. Diagnostic yield of a multigene sequencing approach in children classified as idiopathic short stature. Endocrine connections. 11, e220214-.
  21. Life Sciences Genetics
    Crespo Raiane P; Rocha Thais P; Montenegro Luciana R; Nishi Mirian Y; Alexander Augusto De Lima JORGE et al. 2022. High-throughput sequencing to identify monogenic etiologies in a preselected polycystic ovary syndrome cohort. Journal of the endocrine society. 6, bvac106-.
  22. Life Sciences Neuroscience (miscellaneous)
    Malaquias Alexsandra C; Alexander Augusto De Lima JORGE. 2021. Activation of the mapk pathway (rasopathies) and partial growth hormone insensitivity. Molecular and cellular endocrinology. 519, 111040-.
  23. Health Sciences Neurology (clinical)
    Lin Yuh CHARN; Niceta MARCELLO; Muto VALENTINA; Vona BARBARA; Pagnamenta Alistair T et al. 2021. Scube3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling. American journal of human genetics. 108, 115-133.
  24. Health Sciences Pediatrics, Perinatology and Child Health
    Canton Ana Pinheiro MACHADO; Krepischi Ana Cristina VICTORINO; Montenegro Luciana RIBEIRO; Costa SILVIA; Rosenberg CARLA et al. 2021. Insights from the genetic characterization of central precocious puberty associated with multiple anomalies. Human reproduction. 36, 506-518.
  25. Health Sciences General Medicine
    Hirschhorn Joel N; Dauber ANDREW; Audi LAURA; Vedantam SAILAJA; Ranke Michael B et al. 2021. Response to letter to the editor: -a genome-wide pharmacogenetic study of growth hormone responsiveness-. Journal of clinical endocrinology & metabolism. 106, e409-e410.
  26. Life Sciences Genetics
    Montenegro Luciana R; Lerário Antônio M; Nishi Miriam Y; Alexander Augusto De Lima JORGE; Mendonca Berenice B. 2021. Performance of mutation pathogenicity prediction tools on missense variants associated with 46;xy differences of sex development. Clinics. 76, e2052-.
  27. Social Sciences & Humanities Education
    Bellodi Patrícia LACERDA; Jacomo Alfredo LUIZ; Alexander Augusto De Lima JORGE; Ferraro Alexandre ARCHANJO; Ana Claudia Camargo Gonçalves GERMANI et al. 2021. Medical students with performance difficulties need wide support: initial results of an academic tutoring program. Clinics. 76, e2495-.
  28. Life Sciences Genetics
    Noronha Renata M; Villares Sandra M F; Torres NATALIA; Quedas Elisangela P S; Homma Thais KATAOKA et al. 2021. Noonan syndrome patients beyond the obvious phenotype: a potential unfavorable metabolic profile. American journal of medical genetics part a. 185, 774-780.
  29. Life Sciences Genetics
    Trarbach Ericka B; Trivellin GIAMPAOLO; Grande Isabella P P; Duarte Felipe H G; Alexander Augusto De Lima JORGE et al. 2021. Genetics; clinical features and outcomes of non-syndromic pituitary gigantism: experience of a single center from sao paulo; brazil. Pituitary (dordrecht. online). 24, 252-261.
  30. Life Sciences Biochemistry, Genetics and Molecular Biology (miscellaneous)
    Villela DARINE; Mazzonetto Patricia C; Migliavacca Michele P; Perrone EDUARDO; Guida GUSTAVO et al. 2021. Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses. American journal of medical genetics part a. 185, 2335-2344.
  31. Life Sciences Genetics
    Gregory Louise C; Gergics PETER; Nakaguma MARILENA; Bando HIRONORI; Patti GIUSEPPA et al. 2021. The phenotypic spectrum associated with otx2 mutations in humans. European journal of endocrinology. 185, 121-135.
  32. Health Sciences Genetics (clinical)
    Dantas Naiara C B; Braz Adriana F; Malaquias ALEXSANDRA; Lemos Marini SOFIA; Arnhold Ivo J P et al. 2021. Adult height in 299 patients with turner syndrome with or without growth hormone therapy: results and literature review. Hormone research in paediatrics. 94, 63-70.
  33. Life Sciences Neuroscience (miscellaneous)
    Scalco Renata C; Correa Fernanda A; Dantas Naiara C B; Vasques Gabriela A; Alexander Augusto De Lima JORGE. 2021. Hormone resistance and short stature: a journey through the pathways of hormone signaling. Molecular and cellular endocrinology. 536, 111416-.
  34. Health Sciences Genetics (clinical)
    Gergics PETER; Smith CATHY; Bando HIRONORI; Alexander Augusto De Lima JORGE; Rockstroh Lippold DENISE et al. 2021. High-throughput splicing assays identify missense and silent splice-disruptive pou1f1 variants underlying pituitary hormone deficiency. American journal of human genetics. 108, 1526-1539.
  35. Life Sciences Molecular Biology
    Costa Riquetto Aline DANTAS; Santana Lucas SANTOS; Caetano Lílian A; Lerario Antonio M; Joya E M Correia DEUR et al. 2021. Targeted massively parallel sequencing for congenital generalized lipodystrophy. Archives of endocrinology and metabolism. 64, 559-566.
  36. Life Sciences Genetics
    Nakaguma MARILENA; Ferreira Nathalia Garcia Bianchi PEREIRA; Benedetti Anna Flavia FIGUEREDO; Madi Mariana COTARELLI; Silva Juliana MOREIRA et al. 2021. Allelic variants in established hypopituitarism genes expand our knowledge of the phenotypic spectrum. Genes. 12, 1128-.
  37. Health Sciences Genetics (clinical)
    Vasco De Albuquerque Albuquerque EDOARDA; Ferreira De Assis Funari MARIANA; Pereira De Souza Quedas ELISÂNGELA; Sayuri Honjo Kawahira RACHEL; Soares Jallad RAQUEL et al. 2020. Genetic investigation of patients with tall stature. European journal of endocrinology. 182, 139-147.
  38. Life Sciences Genetics
    Sentchordi Montané LUCÍA; Benito Sanz SARA; Aza Carmona MIRIAM; Pereda ARRATE; Parrón Pajares MANUEL et al. 2020. Clinical and molecular description of 16 families with heterozygous ihh variants. Journal of clinical endocrinology & metabolism. 105, 1-13.
  39. Life Sciences Pharmacology, Toxicology and Pharmaceutics (miscellaneous)
    Dauber ANDREW; Meng YAN; Audi LAURA; Vedantam SAILAJA; Weaver BENJAMIN et al. 2020. A genomewide pharmacogenetic study of growth hormone responsiveness. Journal of clinical endocrinology & metabolism. 105, dgaa443-.
  40. Life Sciences Genetics
    Lerario Antonio MARCONDES; Mohan Dipika R; Montenegro Luciana RIBEIRO; Funari Mariana Ferreira De ASSIS; Nishi Mirian YUMIE et al. 2020. Seladb: a database of exonic variants in a brazilian population referred to a quaternary medical center in são paulo. Clinics. 75, e1913-.
  41. Health Sciences Medicine (miscellaneous)
    Inoue Lima Thais H; Vasques Gabriela A; Nakaguma MARILENA; Brito Luciana PINTO; Mendonça Berenice B et al. 2020. A bayesian approach to diagnose growth hormone deficiency in children: insulin-like growth factor type 1 is valuable for screening and igf-binding protein type 3 for confirmation. Hormone research in paediatrics. 93, 197-205.
  42. Health Sciences Genetics (clinical)
    Barroso Priscila SALES; Alexander Augusto De Lima JORGE; Lerario Antonio MARCONDES; Montenegro Luciana RIBEIRO; Vasques Gabriela ANDRADE et al. 2020. Clinical and genetic characterization of a constitutional delay of growth and puberty cohort. Neuroendocrinology. 110, 959-966.
  43. Life Sciences Genetics
    Bertola Débora R; Castro Matheus A A; Yamamoto Guilherme L; Honjo Rachel S; Ceroni José RICARDO et al. 2020. Phenotype-genotype analysis of 242 individuals with <scp>rasopathies</scp> : 18-year experience of a tertiary center in brazil. American journal of medical genetics part c-seminars in medical genetics. 184, 896-911.
  44. Life Sciences Genetics
    Nakaguma MARILENA; Alexander Augusto De Lima JORGE; Arnhold Ivo J P. 2019. Noonan syndrome associated with growth hormone deficiency with biallelic lztr1 variants. Genetics in medicine. 21, 260-260.
  45. Health Sciences Pediatrics, Perinatology and Child Health
    Freire Bruna L; Homma Thais K; Funari Mariana F A; Lerario Antônio M; Vasques Gabriela A et al. 2019. Multigene sequencing analysis of children born small for gestational age with isolated short stature. Journal of clinical endocrinology & metabolism. 104, 2023-2030.
  46. Health Sciences Medicine (miscellaneous)
    Collett Solberg Paulo FERREZ; Alexander Augusto De Lima JORGE; Boguszewski Margaret C S; Miller Bradley S; Choong Catherine Seut YHOKE et al. 2019. Growth hormone therapy in children- research and practice - a review. Growth hormone & igf research. 44, 20-32.
  47. Life Sciences Genetics
    Maciel Rui M B; Camacho Cleber P; Assumpcao Ligia VM; Bufalo Natassia ELENA; Carvalho André L et al. 2019. Genotype and phenotype landscape of men2 in 554 medullary thyroid cancer patients: the brasmen study. Endocrine connections. 8, 289-298.
  48. Social Sciences & Humanities Neuropsychology and Physiological Psychology
    Inoue Lima Thais H; Vasques Gabriela A; Scalco Renata C; Nakaguma MARILENA; Mendonca Berenice B et al. 2019. Igf-1 assessed by pubertal status has the best positive predictive power for gh deficiency diagnosis in peripubertal children. Journal of pediatric endocrinology and metabolism. 32, 173-179.
  49. Life Sciences Genetics
    Vasques Gabriela A; Andrade Nathalia L M; Alexander Augusto De Lima JORGE. 2019. Genetic causes of isolated short stature. Archives of endocrinology metabolism. 63, 70-78.
  50. Life Sciences Genetics
    França Monica M; Nishi Mirian Y; Funari Mariana F A; Lerario Antonio M; Baracat Edmund C et al. 2019. Two rare loss-of-function variants in the stag3 gene leading to primary ovarian insufficiency. European journal of medical genetics. 62, 186-189.
  51. Life Sciences Genetics
    Nakaguma MARILENA; Correa Fernanda De AZEVEDO; De Santana Lucas SANTOS; Benedetti Anna Flavia FIGUEREDO; Perez Ricardo VESSONI et al. 2019. Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in gli2; otx2 and ghrhr. Endocrine connections. 8, 590-595.
  52. Life Sciences Biochemistry, Genetics and Molecular Biology (miscellaneous)
    Gomes Larissa G; Cunha Silva MARINA; Crespo Raiane P; Ramos Carolina O; Montenegro Luciana R et al. 2019. Dlk1 is a novel link between reproduction and metabolism. Journal of endocrinology and metabolism. 104, 2112-2120.
  53. Life Sciences Biochemistry, Genetics and Molecular Biology (miscellaneous)
    Franca Monica M; Han XINGFA; Funari Mariana F A; Lerario Antonio M; Nishi Mirian Y et al. 2019. Exome sequencing reveals the polr3h gene as a novel cause of primary ovarian insufficiency. Journal of clinical endocrinology & metabolism. 104, 2827-2841.
  54. Health Sciences Genetics (clinical)
    Amato Lorena Guimaraes LIMA; Montenegro Luciana RIBEIRO; Lerario Antonio MARCONDES; Alexander Augusto De Lima JORGE; Guerra Junior GIL et al. 2019. New genetic findings in a large cohort of congenital hypogonadotropic hypogonadism. European journal of endocrinology. 181, 103-119.
  55. Health Sciences Medicine (miscellaneous)
    Correa Fernanda A; Nakaguma MARILENA; Madeira João L O; Nishi Mirian Y; Abrão Milena G et al. 2019. Combined pituitary hormone deficiency caused by prop1 mutations: update 20 years post-discovery. Archives of endocrinology metabolism. 63, 167-174.
  56. Physical Sciences Computer Science Applications
    Funari Mariana F A; Barros Juliana S; Santana Lucas S; Lerario Antonio M; Freire Bruna L et al. 2019. Evaluation of shox</i> defects in the era of next-generation sequencing. Clinical genetics. 96, 261-265.
  57. Health Sciences Genetics (clinical)
    Malaquias Alexsandra C; Noronha Renata M; Souza Thaiana T O; Homma Thais K; Funari Mariana F A et al. 2019. Impact of growth hormone therapy on adult height in patients with ptpn11</i></b> mutations related to noonan syndrome. Hormone research in paediatrics. 91, 1-10.
  58. Health Sciences Genetics (clinical)
    Vasques Gabriela A; Alexander Augusto De Lima JORGE. 2019. Response to letter to the editor: ihh gene mutations causing short stature with nonspecific skeletal abnormalities and response to growth hormone therapy. Journal of clinical endocrinology & metabolism. 104, 5118-5119.
  59. Life Sciences Genetics
    Evilen Da Silva THATIANA; Gomes Nathalia LISBOA; Lerário Antonio MARCONDES; Keegan Catherine ELIZABETH; Nishi Mirian YUMI et al. 2019. Genetic evidence of the association of deah-box helicase 37 defects with 46;xy gonadal dysgenesis spectrum. Journal of clinical endocrinology & metabolism. 104, 5923-5934.
  60. Life Sciences Genetics
    Santana Lucas S; Caetano Lilian A; Costa Riquetto Aline D; Franco Pedro C; Dotto Renata P et al. 2019. Targeted sequencing identifies novel variants in common and rare mody genes. Molecular genetics & genomic medicine. 7, e962-.
  61. Health Sciences General Medicine
    Collett Solberg Paulo F; Ambler GEOFFREY; Backeljauw Philippe F; Bidlingmaier MARTIN; Biller Beverly M K et al. 2019. Diagnosis; genetics; and therapy of short stature in children: a growth hormone research society international perspective. Hormone research in paediatrics. 92, 1-14.
  62. Life Sciences Genetics
    Homma Thais KATAOKA; Freire Bruna LUCHEZE; Honjo Kawahira Rachel SAYURI; Dauber ANDREW; Funari Mariana Ferreira De ASSIS et al. 2019. Genetic disorders in prenatal onset syndromic short stature identified by exome sequencing. Journal of pediatrics. 215, 192-198.
  63. Health Sciences Pediatrics, Perinatology and Child Health
    Homma Thais K; Freire Bruna L; Honjo RACHEL; Dauber ANDREW; Funari Mariana F A et al. 2019. Growth and clinical characteristics of children with floating-harbor syndrome: analysis of current original data and a review of the literature. Hormone research in paediatrics. 92, 115-123.
  64. Health Sciences Otorhinolaryngology
    Scalco RENATA; Trarbach ERICKA; Albuquerque Edoarda Vasco De ALBUQUERQUE; Homma Thais KATAOKA; Inoue Lima Thais HISSAMI et al. 2019. Esr1 polymorphism (rs2234693) influences femoral bone mass in patients with turner syndrome. Endocrine connections. 8, 1513-1519.
  65. Life Sciences Genetics
    Vasques Gabriela A; Andrade Nathalia L M; Correa Fernanda A; Alexander Augusto De Lima JORGE. 2019. Update on new gh-igf axis genetic defects. Archives of endocrinology metabolism. 63, 608-617.
  66. Health Sciences Genetics (clinical)
    Villela Thais R; Freire Bruna L; Braga Nathalia T P; Arantes Rodrigo R; Funari Mariana F A et al. 2019. Growth hormone insensitivity (laron syndrome): report of a new family and review of brazilian patients. Genetics and molecular biology (online version). 42, e20180197-.
  67. Life Sciences Genetics
    Hisado Oliva ALFONSO; Ruzafa Martin ALBA; Sentchordi LUCIA; Funari Mariana F A; Bezanilla L Pez CAROLINA et al. 2018. Mutations in c-natriuretic peptide (nppc): a novel cause of autosomal dominant short stature. Genetics in medicine. 20, 91-97.
  68. Life Sciences Neuroscience (miscellaneous)
    Homma Thais K; Krepischi Ana C V; Furuya Tatiane K; Honjo Rachel S; Malaquias Alexsandra C et al. 2018. Recurrent copy number variants associated with syndromic short stature of unknown cause. Hormone research in paediatrics. 89, 13-21.
  69. Health Sciences Genetics (clinical)
    Vasques Gabriela A; Funari Mariana F A; Ferreira Frederico M; Aza Carmona MIRIAM; Sentchordi Montané LUCIA et al. 2018. Ihh gene mutations causing short stature with non-specific skeletal abnormalities and response to growth hormone therapy. Journal of clinical endocrinology & metabolism. 103, 604-614.
  70. Life Sciences Genetics
    Grunauer MICHELLE; Alexander Augusto De Lima JORGE. 2018. Genetic short stature. Growth hormone & igf research. 38, 29-33.
  71. Life Sciences Genetics
    Correa Fernanda A; Alexander Augusto De Lima JORGE; Nakaguma MARILENA; Canton Ana P M; Costa Silvia S et al. 2018. Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes. Clinical endocrinology. 88, 425-431.
  72. Life Sciences Genetics
    Freire Bruna L; Homma Thais K; Funari Mariana F A; Lerario Antônio M; Leal Aline M et al. 2018. Homozygous loss of function brca1 variant causing a fanconi-anemia-like phenotype; a clinical report and review of previous patients. European journal of medical genetics. 61, 130-133.
  73. Life Sciences Genetics
    Lilian A CAETANO; Santana L S; Costa Riquetto A D; Lerario A M; Marcia NERY et al. 2018. Pdx1</i> -mody and dorsal pancreatic agenesis: new phenotype of a rare disease. Clinical genetics. 93, 382-386.
  74. Life Sciences Behavioral Neuroscience
    Macedo DELANIE; França Monica M; Montenegro LUCIANA; Cunha Silva MARINA; Bessa Danielle S et al. 2018. Central precocious puberty caused by a heterozygous deletion in the mkrn3 promoter region. Neuroendocrinology. 107, 127-132.
  75. Health Sciences Radiology, Nuclear Medicine and Imaging
    Castroneves Luciana AUDI; Coura Filho GEORGE; De Freitas Ricardo Miguel COSTA; Salles RAPHAEL; Moyses Raquel AJUB et al. 2018. Comparison of 68ga pet/ct to other imaging studies in medullary thyroid cancer: superiority in detecting bone metastases. Journal of clinical endocrinology & metabolism. 103, 3250-3259.
  76. Life Sciences Genetics
    Lessel DAVOR; Gehbauer CHRISTINA; Bramswig Nuria C; Schluth Bolard CAROLINE; Venkataramanappa SATHISH et al. 2018. Bcl11b mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells. Brain. 141, 2299-2311.
  77. Health Sciences Medicine (miscellaneous)
    Danilovic Debora Lucia SEGURO; De Mello Evandro SOBROZA; Frazzato Eliana Salgado TURRI; Wakamatsu ALDA; Alexander Augusto De Lima JORGE et al. 2018. Oncogenic mutations in keap1</i> disturbing inhibitory nrf2-keap1 interaction: activation of antioxidative pathway in papillary thyroid carcinoma. Head and neck-journal for the sciences and specialties of the head and neck. 40, 1271-1278.
  78. Life Sciences Neurology
    Imagawa ERI; Albuquerque Edoarda V A; Isidor BERTRAND; Mitsuhashi SATOMI; Mizuguchi TAKESHI et al. 2018. Novel mutations in weaver-like syndrome. Clinical genetics. 94, 461-466.
  79. Life Sciences Genetics
    Montenegro Renan MAGALHÃES; Costa Riquetto Aline DANTAS; Fernandes Virgínia OLIVEIRA; Montenegro Ana Paula Dias RANGEL; Santana Lucas Santos DE et al. 2018. Homozygous and heterozygous nuclear lamin a p.r582c mutation: different lipodystrophic phenotypes in the same kindred. Frontiers in endocrinology. 9, 458-.
  80. Life Sciences Endocrinology
    Carvalho Rafael ARRABAÇA; Urtremari BETSAIDA; Alexander Augusto De Lima JORGE; Santana Lucas SANTOS; Quedas Elisangela Pereira De SOUZA et al. 2018. Germline mutation landscape of multiple endocrine neoplasia type 1 using full gene next-generation sequencing. European journal of endocrinology. 179, 391-407.
  81. Life Sciences Neurology
    Gkourogianni ALEXANDRA; Andrew MELISSA; Tyzinski LEAH; Crocker MELISSA; Douglas JESSICA et al. 2017. Clinical characterization of patients with autosomal dominant short stature due to aggrecan mutations. The journal of clinical endocrinology and metabolism. 102, 460-469.
  82. Life Sciences Genetics
    Trarbach Ericka B; Alexander Augusto De Lima JORGE; Duarte Felipe H; Bronstein Marcello D; Jallad Raquel S. 2017. Socs2 polymorphisms are not associated with clinical and biochemical phenotypes in acromegalic patients. Pituitary. 20, 319-324.
  83. Health Sciences Genetics (clinical)
    Vasques Gabriela A; Hisado Oliva ALFONSO; Funari Mariana F A; Lerario Antonio M; Quedas Elisangela P S et al. 2017. Long-term response to growth hormone therapy in a patient with short stature caused by a novel heterozygous mutation in npr2. Journal of pediatric endocrinology and metabolism. 30, 111-116.
  84. Health Sciences Neurology (clinical)
    Bertola DÉBORA; Yamamoto GUILHERME; Buscarilli MICHELLE; Alexander Augusto De Lima JORGE; Passos Bueno Maria RITA et al. 2017. The recurrent mutation p.pro49arg in an additional noonan-like syndrome individual: broadening the clinical phenotype. American journal of medical genetics. part a. 173, 824-828.
  85. Life Sciences Endocrinology
    Albuquerque Edoarda Vasco De ALBUQUERQUE; Scalco Renata C; Alexander Augusto De Lima JORGE. 2017. Management of endocrine disease: diagnostic and therapeutic approach of tall stature. European journal of endocrinology. 176, R339-R353.
  86. Life Sciences Genetics
    Scalco Renata C; Gonçalves Fernanda T; Santos Hadassa C; Cardena Mari M S G; Tonelli Carlos A et al. 2017. Growth hormone insensitivity with immune dysfunction caused by a stat5b mutation in the south of brazil: evidence for a founder effect. Genetics and molecular biology (online version). 40, 436-441.
  87. Life Sciences Genetics
    Santana L S; Lilian A CAETANO; Costa Riquetto A D; Quedas E P S; Marcia NERY et al. 2017. Clinical application of acmg-amp guidelines in hnf1a</i> and gck</i> variants in a cohort of mody families. Clinical genetics. 92, 388-396.
  88. Life Sciences Genetics
    Madeira Joao LO; Nishi Mirian Y; Nakaguma MARILENA; Benedetti Anna F; Biscotto Isabela PEIXOTO et al. 2017. Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different prop1</i> alterations with three novel mutations. Clinical endocrinology. 87, 725-732.
  89. Health Sciences Medicine (miscellaneous)
    Alexander Augusto De Lima JORGE. 2017. Whole exome sequencing in the investigation of growth disorders; including patients with primary igf-1 deficiency. Hormone research in paediatrics. 88, 421-422.
  90. Health Sciences Genetics (clinical)
    Fernanda A CORRÊA; Marcela M FRANÇA; Qing FANG; Qianyi MA; Tânia Aparecida Sartori Sanchez BACHEGA et al. 2017. Growth hormone deficiency with advanced bone age: phenotypic interaction between ghrh receptor and cyp21a2 mutations diagnosed by sanger and whole exome sequencing. Archives of endocrinology and metabolism. 61, 633-636.
  91. Life Sciences Neurology
    Wakeling Emma L; Brioude FRÉDÉRIC; Lokulo Sodipe OLUWAKEMI; O Connell Susan M; Salem JENNIFER et al. 2017. Diagnosis and management of silver-russell syndrome: first international consensus statement. Nature reviews endocrinology. 13, 105-124.
  92. Life Sciences Behavioral Neuroscience
    Higuti ELIZA; Cecchi Cláudia R; Oliveira Nélio A J; Lima Eliana R; Vieira Daniel P et al. 2016. Partial correction of the dwarf phenotype by non-viral transfer of the growth hormone gene in mice: treatment age is critical. Growth hormone & igf research. 26, 1-7.
  93. Health Sciences Medicine (miscellaneous)
    De Castroneves Luciana AUDI; Negrão Marcelo VAILATI; De Freitas Ricardo Miguel COSTA; Papadia CARLA; Lima José VIANA et al. 2016. Sorafenib for the treatment of progressive metastatic medullary thyroid cancer: efficacy and safety analysis. Thyroid (new york; n.y.). 26, 414-419.
  94. Health Sciences Pediatrics, Perinatology and Child Health
    Canton Ana Pinheiro MACHADO; Nishi Mirian YUMIE; Furuya Tatiane KATSUE; Roela Rosimeire APARECIDA; Alexander Augusto De Lima JORGE. 2016. Good response to long-term therapy with growth hormone in a patient with 9p trisomy syndrome: a case report and review of the literature. American journal of medical genetics. part a. 170, 1046-1049.
  95. Health Sciences Medicine (miscellaneous)
    Da Silva Fernanda MARCHETTO; Alexander Augusto De Lima JORGE; Malaquias ALEXANDRA; Pereira Alexandre Da COSTA; Yamamoto Guilherme LOPES et al. 2016. Nutritional aspects of noonan syndrome and noonan-related disorders. American journal of medical genetics. part a. 170, 1525-1531.
  96. Health Sciences Medicine (miscellaneous)
    Ribeiro T; Alexander Augusto De Lima JORGE; Montenegro L; Almeida M; Ferraz De Souza B et al. 2016. Effects of type 1 insulin-like growth factor receptor silencing in a human adrenocortical cell line. Hormone and metabolic research. 48, 484-488.
  97. Health Sciences Pediatrics, Perinatology and Child Health
    Christiaan De BRUIN; Funari Mariana F A; Vasques Gabriela A; Bruna Lucheze FREIRE; Antonio Carlos LERÁRIO et al. 2016. Two patients with severe short stature due to a fbn1 mutation (p.ala1728val) with a mild form of acromicric dysplasia. Hormone research in paediatrics. 86, 342-348.
  98. Health Sciences Psychiatry and Mental Health
    Madeira João L O; Alexander Augusto De Lima JORGE; Martin Regina M; Montenegro Luciana R; Franca Marcela M et al. 2016. A homozygous point mutation in the promoter (c.-223c>t) leads to reduced expression in siblings with isolated gh deficiency (ighd). European journal of endocrinology. 175, K7-K15.
  99. Life Sciences Genetics
    Jallad Raquel S; Trarbach Ericka B; Duarte Felipe H; Alexander Augusto De Lima JORGE; Bronstein Marcello D. 2015. Influence of growth hormone receptor (ghr) exon 3 and -202a/c igfbp-3 genetic polymorphisms on clinical and biochemical features and therapeutic outcome of patients with acromegaly. Pituitary (new york). 18, 666-673.
  100. Life Sciences Genetics
    C Silveira KARINA; C Bonadia LUCIANA; Superti Furga ANDREA; R Bertola DÉBORA; Alexander Augusto De Lima JORGE et al. 2015. Six additional cases of sedc due to the same and recurrent r989c mutation in the gene-the clinical and radiological follow-up. American journal of medical genetics. part a. 167, 894-901.
  101. Health Sciences Genetics (clinical)
    Correa F D A; Trarbach E; Tusset C; Ana Claudia LATRONICO; Luciana Ribeiro MONTENEGRO et al. 2015. Fgfr1 and prokr2 rare variants found in patients with combined pituitary hormone deficiencies. Endocrine connections. 4, 100-107.
  102. Health Sciences Medicine (miscellaneous)
    Yamamoto G L; Aguena M; Gos M; Hung C; Pilch J et al. 2015. Rare variants in sos2 and lztr1 are associated with noonan syndrome. Journal of medical genetics (print). 52, 413-421.
  103. Life Sciences Neuroscience (miscellaneous)
    Arnhold I J; Marcela M FRANÇA; Carvalho L R; Mendonca B B; Alexander Augusto De Lima JORGE. 2015. Role of gli2 in hypopituitarism phenotype. Journal of molecular endocrinology. 54, R141-R150.
  104. Health Sciences Pharmacology (medical)
    Renata C SCALCO; Vivian HWA; Domene H; Jasper H G; Belgorosky A et al. 2015. Stat5b mutations in heterozygous state have negative impact on height: another clue in human stature heritability. European journal of endocrinology. 173, 291-296.
  105. Life Sciences Genetics
    Hisado Oliva ALFONSO; Garre Vázquez Ana I; Santaolalla Caballero FABIOLA; Belinchón ALBERTA; Barreda Bonis Ana C et al. 2015. Heterozygous mutations cause disproportionate short stature; similar to léri-weill dyschondrosteosis. The journal of clinical endocrinology and metabolism. 100, E1133-E1142.
  106. Health Sciences Genetics (clinical)
    Otto Aline P; França Marcela M; Correa Fernanda A; Costalonga Everlayny F; Leite Claudia C et al. 2015. Frequent development of combined pituitary hormone deficiency in patients initially diagnosed as isolated growth hormone deficiency: a long term follow-up of patients from a single center. Pituitary (dordrecht. online). 18, 561-567.
  107. Social Sciences & Humanities Psychology (miscellaneous)
    Gadelha Pereira Fontenele EVELINE; Amaral De Moraes Maria ELISABETE; Brasil D Alva CATARINA; Pinheiro Daniel PASCOALINO; Aguiar Sales Pinheiro Landim SARA et al. 2015. Association study of gwas-derived loci with height in brazilian children: importance of map3k3; mmp24</i></b> and igf1r</i></b> polymorphisms for height variation. Hormone research in paediatrics. 84, 248-253.
  108. Life Sciences Genetics
    Gonçalves Fernanda T; Fridman CINTIA; Pinto Emília M; Guevara Aguirre JAIME; Shevah ORIT et al. 2014. The e180splice mutation in the ghr</i> gene causing laron syndrome: witness of a sephardic jewish exodus from the iberian peninsula to the new world?. American journal of medical genetics. part a. 164, 1204-1208.
  109. Life Sciences Genetics
    Cecchi CLAUDIA; Higuti ELIZA; Oliveira NELIO; Lima ELIANA; Jakobsen MARIA et al. 2014. A novel homologous model for gene therapy of dwarfism by non-viral transfer of the mouse growth hormone gene into immunocompetent dwarf mice. Current gene therapy. 14, 44-51.
  110. Life Sciences Genetics
    Bear K A; Solomon B D; Antonini S; Ivo Jorge Prado ARNHOLD; Marcela M FRANÇA et al. 2014. Pathogenic mutations in gli2 cause a specific phenotype that is distinct from holoprosencephaly. Journal of medical genetics (print). 51, 413-418.
  111. Life Sciences Biochemistry, Genetics and Molecular Biology (miscellaneous)
    Canton A P; Costa S S; Rodrigues T C; Bertola D R; Alexsandra C MALAQUIAS et al. 2014. Genome-wide screening of copy number variants in children born small for gestational age reveal several candidate genes involved in growth pathways. European journal of endocrinology. 171, 253-262.
  112. Health Sciences Genetics (clinical)
    Braz Adriana F; Costalonga Everlayny F; Trarbach Ericka B; Scalco Renata C; Malaquias Alexsandra C et al. 2014. Genetic predictors of long-term response to growth hormone (gh) therapy in children with gh deficiency and turner syndrome: the influence of a socs2 polymorphism. The journal of clinical endocrinology and metabolism. 99, E1808-E1813.
  113. Health Sciences Pediatrics, Perinatology and Child Health
    Martins Clarissa S; Fernandes Rosa Fabio L; Espineira Aniette R; De Souza Roberto MOLINA; De Castro MARGARET et al. 2014. The growth hormone receptor exon 3 polymorphism is not associated with height or metabolic traits in healthy young adults. Growth hormone & igf research. 24, 123-129.
  114. Health Sciences General Medicine
    Giovaninni Nayara P B; Fuly Jeanne T B; Moraes Leonardo I; Coutinho Thais N; Trarbach Ericka B et al. 2014. Study of the association between 3111t/c polymorphism of the clock gene and the presence of overweight in schoolchildren. Jornal de pediatria (impresso). 90, 500-505.
  115. Health Sciences Pediatrics, Perinatology and Child Health
    Beneduzzi DAIANE; Trarbach Ericka B; Min LE; Alexander Augusto De Lima JORGE; Garmes Heraldo M et al. 2014. Role of gonadotropin-releasing hormone receptor mutations in patients with a wide spectrum of pubertal delay. Fertility and sterility. 102, 838-846.e2.
  116. Health Sciences Genetics (clinical)
    Lido Andria C V; França Marcela M; Correa Fernanda A; Otto Aline P; Carvalho Luciani R et al. 2014. Autosomal recessive form of isolated growth hormone deficiency is more frequent than the autosomal dominant form in a brazilian cohort. Growth hormone & igf research. 24, 180-186.
  117. Life Sciences Biochemistry, Genetics and Molecular Biology (miscellaneous)
    Vasques Gabriela A; Arnhold Ivo J P; Alexander Augusto De Lima JORGE. 2014. Role of the natriuretic peptide system in normal growth and growth disorders. Hormone research in paediatrics. 82, 222-229.
  118. Health Sciences Medicine (miscellaneous)
    Bertola Débora R; Yamamoto Guilherme L; Almeida Tatiana F; Buscarilli MICHELLE; Alexander Augusto De Lima JORGE et al. 2014. Further evidence of the importance of rit1 in noonan syndrome. American journal of medical genetics. part a. 164, 2952-2957.
  119. Health Sciences Medicine (miscellaneous)
    Ribeiro Tamaya CASTRO; Alexander Augusto De Lima JORGE; Almeida Madson Q; Mariani Beatriz Marinho De PAULA; Nishi Mirian YUMI et al. 2014. Amplification of the insulin-like growth factor 1 receptor</i> gene is a rare event in adrenocortical adenocarcinomas: searching for potential mechanisms of overexpression. Biomed res int. 2014, 1-7.
  120. Life Sciences Neurology
    França Marcela M; Alexander Augusto De Lima JORGE; Carvalho Luciani R S; Costalonga Everlayny F; Otto Aline P et al. 2013. Relatively high frequency of non-synonymous gli2 variants in patients with congenital hypopituitarism without holoprosencephaly. Clinical endocrinology (oxford. print). 78, 551-557.
  121. Health Sciences Pediatrics, Perinatology and Child Health
    Andrea De Castro LEAL; Luciana R MONTENEGRO; Renata F SAITO; Tamaya C RIBEIRO; Débora Cabral COUTINHO et al. 2013. Analysis of the insulin-like growth factor 1 receptor gene in children born small for gestational age: in vitro characterization of a novel mutation (p.arg511trp). Clinical endocrinology (oxford. print). 78, 558-563.
  122. Life Sciences Cell Biology
    Jenks Jennifer A; Seki SCOTT; Kanai TAKAHIRO; Huang JENNIFER; Morgan Alexander A et al. 2013. Differentiating the roles of stat5b and stat5a in human cd4+ t cells. Clinical immunology (orlando; fla. print). 148, 227-236.
  123. Health Sciences Pediatrics, Perinatology and Child Health
    Coletta RR; Alexander Augusto De Lima JORGE; D Alva CB; Pinto EM; Billerbeck AE et al. 2013. Insulin-like growth factor 1 gene (ca)n repeats and a variable number of tandem repeats of the insulin gene in brazilian children born small for gestational age. Clinics (usp. impresso). 68, 785-791.
  124. Life Sciences Genetics
    Scalco Renata C; Pugliese Pires Patrícia N; Alexander Augusto De Lima JORGE. 2013. Deficiência da stat5b: uma nova síndrome de insensibilidade ao hormônio de crescimento associada a acometimento imunológico. Arquivos brasileiros de endocrinologia e metabologia (impresso). 57, 333-338.
  125. Health Sciences Medicine (miscellaneous)
    Quaio CR; Almeida TF; Brasil AS; Pereira AC; Alexander Augusto De Lima JORGE et al. 2013. Tegumentary manifestations of noonan and noonan-related syndromes. Clinics (usp. impresso). 68, 1079-1083.
  126. Health Sciences Pediatrics, Perinatology and Child Health
    Vasques G A; Amano N; Docko A J; Mariana F A FUNARI; Quedas E P S et al. 2013. Heterozygous mutations in natriuretic peptide receptor-b (npr2) gene as a cause of short stature in patients initially classified as idiopathic short stature. The journal of clinical endocrinology and metabolism. 98, 1636-1644.
  127. Life Sciences Genetics
    Kaupert LC; Lemos Marini SHV; De Mello MP; Moreira RP; Brito VN et al. 2013. The effect of fetal androgen metabolism-related gene variants on external genitalia virilization in congenital adrenal hyperplasia. Clinical genetics. 84, 482-488.
  128. Health Sciences Pediatrics, Perinatology and Child Health
    Malaquias Alexsandra C; Scalco Renata C; Fontenele Eveline G P; Costalonga Everlayny F; Baldin Alexandre D et al. 2013. The sitting height/height ratio for age in healthy and short individuals and its potential role in selecting short children for shox analysis. Hormone research in paediatrics (online). 80, 1-8.
  129. Life Sciences Neuroscience (miscellaneous)
    Luciana R MONTENEGRO; Andrea De Castro LEAL; Débora Cabral COUTINHO; Valassi H P L; Miriam Y NISHI et al. 2012. Post-receptor igf1 insensitivity restricted to the mapk pathway in a silver-russell syndrome patient with hypomethylation at the imprinting control region on chromosome 11. European journal of endocrinology. 166, 543-550.
  130. Life Sciences Genetics
    Adriana F BRAZ; Everlayny Fiorot COSTALONGA; Luciana R MONTENEGRO; Trarbach E B; Sonir R R ANTONINI et al. 2012. The interactive effect of ghr-exon 3 and -202 a/c igfbp3 polymorphisms on rhgh responsiveness and treatment outcomes in patients with turner syndrome. The journal of clinical endocrinology and metabolism. 97, E671-E677.
  131. Health Sciences General Medicine
    Renehan A G; Solomon M; Zwahlen M; Morjaria R; Whatmore A et al. 2012. Growth hormone receptor polymorphism and growth hormone therapy response in children: a bayesian meta-analysis. American journal of epidemiology. 175, 867-877.
  132. Life Sciences Genetics
    Brasil Amanda S; Malaquias Alexsandra C; Kim Chong A; Krieger José EDUARDO; Alexander Augusto De Lima JORGE et al. 2012. Kras gene mutations in noonan syndrome familial cases cluster in the vicinity of the switch ii region of the g-domain: report of another family with metopic craniosynostosis. American journal of medical genetics. part a. 158A, 1178-1184.
  133. Health Sciences Neurology (clinical)
    Quaio Caio R D C; Carvalho Jozélio F; Da Silva Clovis A; Bueno CLEONICE; Brasil Amanda S et al. 2012. Autoimmune disease and multiple autoantibodies in 42 patients with rasopathies. American journal of medical genetics. part a. 158A, 1077-1082.
  134. Health Sciences Medicine (miscellaneous)
    Brito L P; Tamaya C RIBEIRO; Madson Q ALMEIDA; Alexander Augusto De Lima JORGE; Soares I C et al. 2012. The role of fibroblast growth factor receptor 4 overexpression and gene amplification as prognostic markers in pediatric and adult adrenocortical tumors. Endocrine-related cancer. 19, L11-L13.
  135. Health Sciences Genetics (clinical)
    Malaquias Alexsandra C; Brasil Amanda S; Pereira Alexandre C; Arnhold Ivo J P; Mendonca Berenice B et al. 2012. Growth standards of patients with noonan and noonan-like syndromes with mutations in the ras/mapk pathway. American journal of medical genetics part a. 158A, 2700-2706.
  136. Life Sciences Pharmacology, Toxicology and Pharmaceutics (miscellaneous)
    Marui SUEMI; Trarbach Ericka B; Boguszewski Margaret C S; França Marcela M; Alexander Augusto De Lima JORGE et al. 2012. Gh-releasing hormone receptor gene: a novel splice-disrupting mutation and study of founder effects. Hormone research in paediatrics. 78, 165-172.
  137. Health Sciences Medicine (miscellaneous)
    Lilian A CAETANO; Alexander Augusto De Lima JORGE; Alexsandra C MALAQUIAS; Marcia S QUEIROZ; Marcia NERY et al. 2012. Incidental mild hyperglycemia in children: two mody 2 families identified in brazilian subjects. Arquivos brasileiros de endocrinologia e metabologia (impresso). 56, 519-524.
  138. Life Sciences General Biochemistry, Genetics and Molecular Biology
    Higuti ELIZA; R Cecchi CLAUDIA; A J Oliveira NELIO; P Vieira DANIEL; G Jensen THOMAS et al. 2012. Growth responses following a single intra-muscular hgh plasmid administration compared to daily injections of hgh in dwarf mice. Current gene therapy. 12, 437-443.
  139. Life Sciences Genetics
    Tusset CINTIA; Noel Sekoni D; Trarbach Ericka B; Silveira Letícia F G; Alexander Augusto De Lima JORGE et al. 2012. Mutational analysis of tac3 and tacr3 genes in patients with idiopathic central pubertal disorders. Arquivos brasileiros de endocrinologia e metabologia (impresso). 56, 646-652.
  140. Life Sciences Genetics
    Moreira Ricardo P P; Alexander Augusto De Lima JORGE; Mendonca Berenice B; Bachega Tânia A S S. 2011. Frequency of genetic polymorphisms of pxr gene in the brazilian population. Clinics (usp. impresso). 66, 1041-1044.
  141. Health Sciences Medicine (miscellaneous)
    Patrícia N PUGLIESE; Fortin J P; Arthur T; Ana Claudia LATRONICO; Mendonca B B et al. 2011. Novel inactivating mutations in the gh secretagogue receptor gene in patients with constitutional delay of growth and puberty. European journal of endocrinology. 165, 233-241.
  142. Health Sciences Medicine (miscellaneous)
    Marcela M FRANÇA; Alexander Augusto De Lima JORGE; Alatzoglou K S; Luciani R S CARVALHO; Mendonca B B et al. 2011. Absence of gh-releasing hormone (ghrh) mutations in selected patients with isolated gh deficiency. The journal of clinical endocrinology and metabolism. 96, 1-4.
  143. Health Sciences Genetics (clinical)
    Moreira Ricardo P P; Alexander Augusto De Lima JORGE; Gomes Larissa G; Kaupert Laura C; Massud Filho JOÃO et al. 2011. Pharmacogenetics of glucocorticoid replacement could optimize the treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Clinics (usp. impresso). 66, 1361-1366.
  144. Health Sciences Genetics (clinical)
    Leal Andréa De CASTRO; Canton Ana Pinheiro MACHADO; Montenegro Luciana RIBEIRO; Coutinho Débora CABRAL; Arnhold Ivo Jorge PRADO et al. 2011. Mutações no gene do receptor do fator de crescimento insulina-símile 1 (igf1r) como causa de retardo do crescimento pré- e pós-natal. Arquivos brasileiros de endocrinologia e metabologia (impresso). 55, 541-549.
  145. Health Sciences Pediatrics, Perinatology and Child Health
    Costalonga E F; Alexander Augusto De Lima JORGE; Franca M M; Antonini S R R; Guerra Junior G et al. 2011. Growth hormone pharmacogenetics: the interactive effect of a microsatellite in the igf1 promoter region with the ghr-exon 3 and â¿¿202 a/c igfbp3 variants on treatment outcomes of children with severe gh deficiency. Pharmacogenomics journal (print). 12, 439-445.
  146. Health Sciences Pediatrics
    Renata C SCALCO; Suzana S MELO; Patrícia N PUGLIESE; Mariana F A FUNARI; Miriam Y NISHI et al. 2010. Effectiveness of the combined recombinant human growth hormone and gonadotropin-releasing hormone analog therapy in pubertal patients with short stature due to shox deficiency. The journal of clinical endocrinology and metabolism. 95, 328-332.
  147. Health Sciences Medicine (miscellaneous)
    Madson Q ALMEIDA; Soares I C; Tamaya C RIBEIRO; Fragoso M C B V; Marins L V et al. 2010. Steroidogenic factor 1 overexpression and gene amplification are more frequent in adrenocortical tumors from children than from adults. The journal of clinical endocrinology and metabolism. 95, 1458-1462.
  148. Health Sciences Psychiatry and Mental Health
    Milena TELES; Erica TRABACH; Noel S D; Gil Guerra JUNIOR; Alexander Augusto De Lima JORGE et al. 2010. A novel homozygous splice acceptor site mutation of kiss1r in two siblings with normosmic isolated hypogonadotropic hypogonadism. European journal of endocrinology. 163, 29-34.
  149. Life Sciences Genetics
    Amanda S BRASIL; Alexandre C PEREIRA; Luciana T WANDERLEY; Chong A KIM; Alexsandra C MALAQUIAS et al. 2010. And gene analysis in patients with noonan and noonan-like syndromes. Genetic testing and molecular biomarkers (print). 14, 425-432.
  150. Life Sciences Genetics
    Patrícia N PUGLIESE; Tonelli C; Dora J M; Silva P; Czepielewski M A et al. 2010. A novel stat5b mutation causing gh insensitivity syndrome associated withhyperprolactinemia and immune dysfunction in two male siblings. European journal of endocrinology. 163, 349-355.
  151. Physical Sciences Computer Science (miscellaneous)
    Mariana F A FUNARI; Alexander Augusto De Lima JORGE; Silvia C SOUZA; Ana Elisa C BILLERBECK; Ivo Jorge Prado ARNHOLD et al. 2010. Usefulness of mlpa in the detection of shox deletions. European journal of medical genetics. 53, 234-238.
  152. Life Sciences Genetics
    Marcela M FRANÇA; Alexander Augusto De Lima JORGE; Luciani R S CARVALHO; Everlayny Fiorot COSTALONGA; Vasques G A et al. 2010. Novel heterozygous nonsense gli2 mutations in patients with hypopituitarism and ectopic posterior pituitary lobe without holoprosencephaly. The journal of clinical endocrinology and metabolism. 95, E384-E391.
  153. Health Sciences Neurology (clinical)
    Mariana F A FUNARI; Miriam Y NISHI; Ivo Jorge Prado ARNHOLD; Berenice Bilharinho MENDONÇA; Alexander Augusto De Lima JORGE. 2010. Short stature caused by isolated shox gene haploinsufficiency: update on the diagnosis and treatment. Pediatric endocrinology reviews: diabetes; nutrition; metabolism. 8, 79-85.
  154. Life Sciences Genetics
    Brasil Amanda SALEM; Malaquias Alexsandra C; Wanderley Luciana TUROLLA; Kim Chong AE; Krieger José EDUARDO et al. 2010. Co-occurring ptpn11 and sos1 gene mutations in noonan syndrome: does this predict a more severe phenotype?. Arquivos brasileiros de endocrinologia e metabologia (impresso). 54, 717-722.
  155. Life Sciences Endocrinology
    Magnus R SILVA; Alexander Augusto De Lima JORGE. 2010. Bringing endocrine basic science and physician investigators together. Arquivos brasileiros de endocrinologia e metabologia (impresso). 54, 671-672.
  156. Health Sciences Endocrinology, Diabetes and Metabolism
    Everlayny Fiorot COSTALONGA; Sonir R R ANTONINI; Gil Guerra JUNIOR; Berenice Bilharinho MENDONÇA; Ivo Jorge Prado ARNHOLD et al. 2009. The -202 a allele of insulin-like growth factor binding protein-3 (igfbp3) promoter polymorphism is associated with higher igfbp-3 serum levels and better growth response to growth hormone treatment in patients with severe gh deficiency. The journal of clinical endocrinology and metabolism. 94, 588-595.
  157. Life Sciences Genetics
    Alexander Augusto De Lima JORGE; Alexsandra C MALAQUIAS; Ivo Jorge Prado ARNHOLD; Berenice Bilharinho MENDONÇA. 2009. Noonan syndrome and related disorders:a review of clinical features and mutations in genes of the ras/mapk pathway. Hormone research. 71, 185-193.
  158. Health Sciences Pediatrics, Perinatology and Child Health
    Frederico MARCHISOTTI; Alexander Augusto De Lima JORGE; Luciana R MONTENEGRO; Karina BERGER; Luciani R S CARVALHO et al. 2009. Comparison between weight-based and igf-i-based growth hormone (gh) dosing in the treatment of children with gh deficiency and influence of exon 3 deleted gh receptor variant. Growth hormone & igf research. 19, 179-186.
  159. Life Sciences Genetics
    Alexander Augusto De Lima JORGE; Ivo Jorge Prado ARNHOLD. 2009. Growth hormone receptor exon 3 isoforms and their implication in growth disorders and treatment. Hormone research. 71, 55-63.
  160. Health Sciences Medicine (miscellaneous)
    Martin SAVAGE; Raja PADIDELA; Jeremy Mw KIRK; Alexsandra C MALAQUIAS; Alexander Augusto De Lima JORGE. 2009. Abnormal growth in noonan syndrome: the challenge of optimal therapy. Pediatric endocrinology reviews: diabetes; nutrition; metabolism. 6, 523-528.
  161. Health Sciences Genetics (clinical)
    Manuela G M ROCHA; Frederico MARCHISOTTI; Maria Geralda F OSORIO; Suemi MARUI; Luciani R S CARVALHO et al. 2008. High prevalence of pituitary magnetic resonance abnormalities and gene mutations in a cohort of brazilian children with growth hormone deficiency and response to treatment. Journal of pediatric endocrinology and metabolism. 21, 673-680.
  162. Life Sciences Neurology
    Lize Vargas FERREIRA; Silvia C SOUZA; Luciana R MONTENEGRO; Alexsandra C M M RIBEIRO; Ivo Jorge Prado ARNHOLD et al. 2008. Analysis of the ptpn11</i> gene in idiopathic short stature children and noonan syndrome patients. Clinical endocrinology (oxford). 69, 426-431.
  163. Social Sciences & Humanities Psychology (miscellaneous)
    Alexander Augusto De Lima JORGE; Miriam Y NISHI; Mariana F A FUNARI; Silvia C SOUZA; Ivo Jorge Prado ARNHOLD et al. 2008. Baixa estatura por haploinsuficiência do gene shox: do diagnóstico ao tratamento. Arquivos brasileiros de endocrinologia & metabologia. 52, 765-773.
  164. Health Sciences Genetics (clinical)
    Alexsandra C MALAQUIAS; Lize Vargas FERREIRA; Silvia C SOUZA; Ivo Jorge Prado ARNHOLD; Berenice Bilharinho MENDONÇA et al. 2008. Síndrome de noonan: do fenótipo à terapêutica com hormônio de crescimento. Arquivos brasileiros de endocrinologia e metabologia (impresso). 52, 800-808.
  165. Social Sciences & Humanities Health (social science)
    Everlayny Fiorot COSTALONGA; Alexander Augusto De Lima JORGE; Berenice Bilharinho MENDONÇA; Ivo Jorge Prado ARNHOLD. 2008. Modelos matemáticos para previsão de resposta ao tratamento com hormônio de crescimento. Arquivos brasileiros de endocrinologia & metabologia. 52, 839-849.
  166. Social Sciences & Humanities Psychology (miscellaneous)
    Alexander Augusto De Lima JORGE. 2008. Investigação de baixa estatura: aspectos clínicos; laboratoriais e moleculares da insensibilidade ao hormônio de crescimento. Arquivos brasileiros de endocrinologia & metabologia. 52, 1056-1065.
  167. Health Sciences Medicine (miscellaneous)
    Madson Q ALMEIDA; Maria Cândida FRAGOSO; Claudimara Ferini Pacicco LOTFI; Mariza Gerdulo SANTOS; Miriam Y NISHI et al. 2008. Expression of insulin-like growth factor-ii and its receptor in pediatric and adult adrenocortical tumors. The journal of clinical endocrinology and metabolism. 93, 3524-3531.
  168. Health Sciences General Medicine
    Evandro S PORTES; Alexander Augusto De Lima JORGE; Carlos Eduardo Martineli JR. 2008. Tratamento com hormônio de crescimento: aspectos moleculares; clínicos e terapêuticos. Arquivos brasileiros de endocrinologia & metabologia. 52, 715-.
  169. Life Sciences Genetics
    Mariana F A FUNARI; Alexander Augusto De Lima JORGE; Emilia PINTO; Ivo Jorge Prado ARNHOLD; Berenice Bilharinho MENDONÇA et al. 2008. Cryptic intragenic deletion of the shox gene in a family with léri-weill dyschondrosteosis detected by multiplex ligation-dependent probe amplification (mlpa). Arquivos brasileiros de endocrinologia & metabologia. 52, 1381-1386.
  170. Health Sciences Genetics (clinical)
    Erik Trovão DINIZ; Alexander Augusto De Lima JORGE; Ivo Jorge Prado ARNHOLD; Arlan L ROSENBLOOM; Francisco BANDEIRA. 2008. Novel nonsense mutation (p.y113x) in the human growth hormone receptor gene in a brazilian patient with laron syndrome. Arquivos brasileiros de endocrinologia & metabologia. 52, 1263-1270.
  171. Health Sciences General Medicine
    Nuvarte SETIAN; Vaê DICHTCHEKENIAN; Thais Della MANNA; Alexander Augusto De Lima JORGE; Hamilton C Menezes FILHO et al. 2008. Baixa estatura por insensibilidade ao hormônio de crescimento. Pediatria (são paulo). 30, 165-171.
  172. Life Sciences Neurology
    Alexander Augusto De Lima JORGE; Silvia C SOUZA; Miriam Y NISHI; Ana Elisa C BILLERBECK; Débora C Cabral LIBÓRIO et al. 2007. Shox mutations in idiopathic short stature and leri-weill dyschondrosteosis: frequency and phenotypic variability. Clinical endocrinology (oxford. print). 66, (1) 130-135.
  173. Health Sciences Medicine (miscellaneous)
    Alexander Augusto De Lima JORGE. 2007. Diagnosis and long-term human growth hormone treatment of a boy with noonan syndrome. Hormone research. 67, ((Suppl.1)) 98-101.
  174. Health Sciences Pediatrics, Perinatology and Child Health
    Marcos T K TOYOSHIMA; Luciana A CASTRONEVES; Everlayny Fiorot COSTALONGA; Berenice Bilharinho MENDONÇA; Ivo Jorge Prado ARNHOLD et al. 2007. Exon 3-deleted genotype of growth hormone receptor (ghrd3) positively influences igf-1 increase at generation test in children with idiopathic short stature. Clinical endocrinology (oxford). 67, 500-504.
  175. Life Sciences Neuroscience (miscellaneous)
    Ana Rita LIMA; Alexander Augusto De Lima JORGE; Balieiro J C C; Peixoto C; Fioretto E T et al. 2007. Muscular dystrophy-related quantitative and chemical changes in adenohypophysis gh-cells in golden retrievers. Growth hormone & igf research. 17, 480-491.
  176. Life Sciences Genetics
    Débora Cabral COUTINHO; Rocio R D COLETTA; Elaine Maria Frade COSTA; Paulo PACHI; Margaret BOGUSZEWSKI et al. 2007. Polymorphisms identified in the upstream core polyadenylation signal of igf1 gene exon 6 do not cause pre and postnatal growth impairment. The journal of clinical endocrinology and metabolism. 92, 4889-4892.
  177. Health Sciences Genetics (clinical)
    Alexander Augusto De Lima JORGE; Ivo Jorge Prado ARNHOLD. 2007. Anthropometric evaluation of children with shox mutations can be used as indication for genetic studies in children of short stature. Journal of medical genetics. 44, e90-e91.
  178. Life Sciences Genetics
    Lize Vargas FERREIRA; Silvia C SOUZA; Luciana R MONTENEGRO; Ivo Jorge Prado ARNHOLD; Titania PASQUALINI et al. 2007. Variabilidade do fenótipo de pacientes com síndrome de noonan com e sem mutações no gene ptpn11. Arquivos brasileiros de endocrinologia & metabologia. 51, 450-456.
  179. Health Sciences Pediatrics, Perinatology and Child Health
    Alexander Augusto De Lima JORGE; Frederico MARCHISOTTI; Luciana R MONTENEGRO; Luciani R S CARVALHO; Berenice Bilharinho MENDONÇA et al. 2006. Growth hormone (gh) pharmacogenetics: influence of gh receptor exon 3 retention or deletion on first-year growth response and final height in patients with severe gh deficiency. The journal of clinical endocrinology and metabolism. 91, (3) 1076-1080.
  180. Life Sciences Genetics
    Alexander Augusto De Lima JORGE; Débora C Cabral LIBÓRIO. 2006. Mutation in igf-1 polyadenylation signal is a polymorphism in the brazilian population (electronic letters). Journal of medical genetics. letter, e1-.
  181. Health Sciences Psychiatry and Mental Health
    Martin SAVAGE; J C BLAIR; Alexander Augusto De Lima JORGE; M E STREET; M B RANKE et al. 2005. Igfs and igfbps in gh insensitivity. Endocrine development. Inglaterra. 9, 100-106.
  182. Health Sciences Genetics (clinical)
    Lize Vargas FERREIRA; Silvia C SOUZA; Ivo Jorge Prado ARNHOLD; Berenice Bilharinho MENDONÇA; Alexander Augusto De Lima JORGE. 2005. Ptpn11 mutations and response to growth hormone therapy in children with noonan syndrome. The journal of clinical endocrinology and metabolism. 90, (9) 5156-5160.
  183. Health Sciences Genetics (clinical)
    Alexander Augusto De Lima JORGE; Hamilton C Menezes FILHO; Thereza S S LINS; Dulce R GUEDES; Durval DAMIANI et al. 2005. Efeito fundador da mutação e180splice no gene do receptor de hormônio de crescimento (ghr) identificada em pacientes brasileiros com insensibilidade ao gh. Arquivos brasileiros de endocrinologia & metabologia. 49, (3) 384-389.
  184. Life Sciences Genetics
    Alexander Augusto De Lima JORGE; Silvia C SOUZA; Ivo Jorge Prado ARNHOLD; Berenice Bilharinho MENDONÇA. 2004. The first homozygous mutation (s226i) in the highly-conserved wsxws-like motif of the gh receptor causing laron syndrome: supression of gh secretion by gnrh analogue therapy not restored by dihydrotestosterone administration. Clinical endocrinology (oxford). 60, (1) 36-40.
  185. Health Sciences Medicine (miscellaneous)
    Amélie BESSON; Souzan SALEMI; Andrée EBLÉ; Fransiska JONCOURT; Sabina GALLATI et al. 2004. Primary growth hormone insensitivity (laron syndrome) caused by a novel 4 kb deletion encompassing exon 5 of the gh-receptor gene: effect of intermittent long-term treatment with recombinant human igf-i. European journal of endocrinology. 150, (5) 635-641.
  186. Social Sciences & Humanities Psychology (miscellaneous)
    Catarina Brasil D ALVA; Alexander Augusto De Lima JORGE; Berenice Bilharinho MENDONÇA. 2003. Diagnóstico e tratamento do hiperaldosteronismo primário. Hipertensão. Brasil. 6, (2) 50-54.
  187. Health Sciences Dentistry (miscellaneous)
    Luciani R S CARVALHO; Maria Estela Justamente De FARIA; Maria Geralda F OSORIO; Vivian ESTEFAN; Alexander Augusto De Lima JORGE et al. 2003. Acromegalic features in growth hormone (gh)-deficient patients after long-term gh therapy. Clinical endocrinology (oxford). 59, (6) 788-792.
  188. Life Sciences Genetics
    Melo K F S; Regina Matsunaga MARTIN; Elaine Maria Frade COSTA; Filomena M CARVALHO; Alexander Augusto De Lima JORGE et al. 2002. An unusual phenotype of frasier syndrome due to ivs9 +4c>t mutation in the wt1 gene: predominantly male ambiguous genitalia and absence of gonadal dysgenesis. The journal of clinical endocrinology and metabolism. 87, (6) 2500-2505.
  189. Health Sciences Psychiatry and Mental Health
    Alexander Augusto De Lima JORGE; Silvia C SOUZA; Ivo Jorge Prado ARNHOLD; Berenice Bilharinho MENDONÇA. 2002. Poor reproducibility of igf-i and igf binding protein-3 generation test in children with short stature and normal coding region of the gh receptor gene. The journal of clinical endocrinology and metabolism. 87, (2) 469-472.
  190. Health Sciences Genetics (clinical)
    Maria Geralda F OSORIO; Suemi MARUI; Alexander Augusto De Lima JORGE; Ana Claudia LATRONICO; Leonard S S LO et al. 2002. Pituitary magnetic resonance imaging and function in patients with growth hormone deficiency with and without mutations in ghrh-r; gh-1; or prop-1 genes. The journal of clinical endocrinology and metabolism. 87, (11) 5076-5084.
  191. Life Sciences Biochemistry, Genetics and Molecular Biology (miscellaneous)
    Suemi MARUI; Silvia C SOUZA; Luciani R S CARVALHO; Alexander Augusto De Lima JORGE; Berenice Bilharinho MENDONÇA et al. 2002. Bases genéticas dos distúrbios de crescimento. Arquivos brasileiros de endocrinologia & metabologia. 46, (4) 444-456.
  192. Health Sciences Medicine (miscellaneous)
    Chin Jia LIN; Alexander Augusto De Lima JORGE; Ana Claudia LATRONICO; Suemi MARUI; Maria Cândida FRAGOSO et al. 2000. Origin of an ovarian steroid cell tumor causing isosexual pseudoprecocious puberty demonstrated by the expression of adrenal steroidogenic enzymes and adrenocorticotropin receptor. The journal of clinical endocrinology and metabolism. 85, (3) 1211-1214.
  193. Health Sciences Pediatrics, Perinatology and Child Health
    Alexander Augusto De Lima JORGE; Antonio Marmo LUCON; Walter BLOISE; Berenice Bilharinho MENDONÇA. 1997. Pheochromocytoma of the urinary bladder; report of a case and review of the literature. Revista do hospital das clínicas da faculdade de medicina de são paulo. Brasil. 52, (1) 28-31.
  1. Health Sciences Psychiatry and Mental Health
    Alexander Augusto De Lima JORGE; Fernanda A CORRÊA; Scalco Renata C. 2022. Disorders of the gh-igf axis. In: Oxford textbook of endocrinology and diabetes. Grã-Bretanha.
  2. Life Sciences Neurology
    Ana P M CANTON; Alexander Augusto De Lima JORGE. 2022. Idiopathic short stature: diagnostic and therapeutic approach. In: Endocrinology and diabetes - a problem oriented approach. Brasil.
  3. Life Sciences Biochemistry, Genetics and Molecular Biology (miscellaneous)
    Alexander Augusto De Lima JORGE; Bruno Ferraz De SOUZA; Berenice Bilharinho MENDONÇA. 2021. Investigação genética. In: Endocrinologia e metabologia. Brasil.
  4. Social Sciences & Humanities Social Sciences (miscellaneous)
    Vasques Gabriela A; Alexander Augusto De Lima JORGE; Ivo Jorge Prado ARNHOLD. 2021. Crescimento. In: Endocrinologia e metabologia. Brasil.
  5. Health Sciences Psychiatry and Mental Health
    Alexander Augusto De Lima JORGE; Grimberg ADDA; Mehul T DATTANI; Baron JEFFREY. 2020. Disorders of childhood growth. In: Sperling pediatrics endocrinology. Estados Unidos.
  6. Social Sciences & Humanities Psychology (miscellaneous)
    Alexander Augusto De Lima JORGE; Berenice Bilharinho MENDONÇA; Arnhold Ivo J P. 2017. Crescimento normal e baixa estatura. In: Endocrinologia; princípios e prática. Brasil.
  7. Health Sciences Dentistry (miscellaneous)
    Bruno Ferraz De SOUZA; Magnus R SILVA; Almeida Madson Q; Alexander Augusto De Lima JORGE. 2017. Aplicações clínicas dos testes genéticos em endocrinologia. In: Endocrinologia; princípios e prática. Brasil.
  8. Social Sciences & Humanities Psychology (miscellaneous)
    Alexander Augusto De Lima JORGE; Alexsandra C MALAQUIAS. 2016. Crescimento normal e baixa estatura de causa hormonal ou genética. In: Clínica médica. Brasil.
  9. Health Sciences Neurology (clinical)
    Canton Ana P M; Alexander Augusto De Lima JORGE. 2014. Idiopathic short stature: diagnostic and therapeutic approach. In: Endocrinology and diabetes. Brasil.
  10. Life Sciences Neuroscience (miscellaneous)
    Malaquias AC; Alexander Augusto De Lima JORGE. 2014. Developmental syndromes of ras/mapk pathway dysregulation. In: Els. Grã-Bretanha.
  11. Life Sciences Endocrinology
    Margaret BOGUSZEWSKI; Jaqueline ARAÚJO; Lucio VILAR; Bárbara GOMES; Durval DAMIANI et al. 2014. Distúrbios endócrinos em crianças e adolescentes. In: Desafios em endocrinologia. Brasil.
  12. Health Sciences Medicine (miscellaneous)
    Delmar Muniz Lourenço JUNIOR; Alexander Augusto De Lima JORGE. 2014. O proto-oncogene ret na neoplasia endócrina múltipla tipo 2. In: Carcinoma medular da tireoide. Brasil.
  13. Health Sciences Pediatrics, Perinatology and Child Health
    Alexsandra C MALAQUIAS; Alexander Augusto De Lima JORGE. 2012. Growth defects in noonan syndrome. In: Handbook of growth and growth monitoring in health and disease. Grã-Bretanha.
  14. Life Sciences Genetics
    Mariana F A FUNARI; Miriam Y NISHI; Renata C SCALCO; Alexander Augusto De Lima JORGE. 2012. Genetics of shox deficiency. In: Els. Grã-Bretanha.
  15. Health Sciences Medicine (miscellaneous)
    Alexander Augusto De Lima JORGE; Ivo Jorge Prado ARNHOLD. 2012. Abordagem clínica. In: Investigação da baixa estatura: do fenótipo ao genótipo. Brasil.
  16. Health Sciences Medicine (miscellaneous)
    Alexander Augusto De Lima JORGE; Eveline G P SILVA. 2012. Diagnóstico hormonal. In: Investigação da baixa estatura: do fenótipo ao genótipo. Brasil.
  17. Social Sciences & Humanities Psychology (miscellaneous)
    Alexander Augusto De Lima JORGE; Berenice Bilharinho MENDONÇA; Ivo Jorge Prado ARNHOLD. 2012. Classificação da baixa estatura. In: Investigação da baixa estatura: do fenótipo ao genótipo. Brasil.
  18. Life Sciences Genetics
    Marcela M FRANÇA; Alexander Augusto De Lima JORGE; Ivo Jorge Prado ARNHOLD. 2012. Deficiências hipotálamo-hipofisárias múltiplas por mutação no gene gli2. In: Investigação da baixa estatura: do fenótipo ao genótipo. Brasil.
  19. Life Sciences Genetics
    Patrícia N PUGLIESE; Alexander Augusto De Lima JORGE. 2012. Deficiência na ação do gh por mutação nos genes ghr ou stat5b (insensibilidade ao gh). In: Investigação da baixa estatura: do fenótipo ao genótipo. Brasil.
  20. Life Sciences Genetics
    Andrea Castro LEAL; Alexander Augusto De Lima JORGE. 2012. Deficiência do crescimento pré e pós-natal por mutação no gene igf1r. In: Investigação da baixa estatura: do fenótipo ao genótipo. Brasil.
  21. Life Sciences Genetics
    Mariana F A FUNARI; Renata C SCALCO; Berenice Bilharinho MENDONÇA; Alexander Augusto De Lima JORGE; Miriam Y NISHI. 2012. Baixa estatura desproporcional por mutação no gene shox. In: Investigação da baixa estatura: do fenótipo ao genótipo. Brasil.
  22. Health Sciences Neurology (clinical)
    Alexsandra C MALAQUIAS; Alexander Augusto De Lima JORGE. 2012. Baixa estatura associada à síndrome de noonan. In: Investigação da baixa estatura: do fenótipo ao genótipo. Brasil.
  23. Life Sciences Pharmacology, Toxicology and Pharmaceutics (miscellaneous)
    Everlayny Fiorot COSTALONGA; Alexander Augusto De Lima JORGE. 2012. Farmacogenética do tratamento com gh. In: Investigação da baixa estatura: do fenótipo ao genótipo. Brasil.
  24. Health Sciences Medicine (miscellaneous)
    Ivo Jorge Prado ARNHOLD; Alexander Augusto De Lima JORGE. 2012. Aconselhamento genético. In: Investigação da baixa estatura: do fenótipo ao genótipo. Brasil.
  25. Health Sciences Medicine (miscellaneous)
    Alexander Augusto De Lima JORGE. 2009. Crescimento normal e baixa estatura de causa hormonal ou genética. In: Clínica médica. Brasil.
  26. Social Sciences & Humanities Psychology (miscellaneous)
    Alexander Augusto De Lima JORGE; Berenice Bilharinho MENDONÇA; Ivo Jorge Prado ARNHOLD. 2009. Crescimento normal e baixa estatura. In: Tratado de clínica médica. Brasil.
  27. Life Sciences Animal Science and Zoology
    Alexander Augusto De Lima JORGE. 2008. Fisiologia do crescimento normal. In: Endocrinologia pediátrica na prática pediátrica. Brasil.
  28. Social Sciences & Humanities Psychology (miscellaneous)
    Alexander Augusto De Lima JORGE; Suemi MARUI; Berenice Bilharinho MENDONÇA; Ivo Jorge Prado ARNHOLD. 2007. Crescimento normal e baixa estatura. In: Endocrinologia. Brasil.
  29. Social Sciences & Humanities Psychology (miscellaneous)
    Alexander Augusto De Lima JORGE; Berenice Bilharinho MENDONÇA; Ivo Jorge Prado ARNHOLD. 2006. Crescimento normal e baixa estatura. In: Tratado de clínica médica. Brasil.
  30. Health Sciences Medicine (miscellaneous)
    Suemi MARUI; Luciani R S CARVALHO; Maria Edna De MELO; Milena Garcia ABRÃO; Alexander Augusto De Lima JORGE et al. 2006. Diferenciação e insuficiência hipofisária. In: Endocrinologia para o pediatra. Brasil.
  31. Health Sciences Pediatrics, Perinatology and Child Health
    Nuvarte SETIAN; Alexander Augusto De Lima JORGE. 2006. Baixa estatura por deficiência do hormônio de crescimento: tratamento. In: Projeto diretrizes. Brasil.
  32. Health Sciences Medicine (miscellaneous)
    Alexander Augusto De Lima JORGE; Nuvarte SETIAN. 2006. Baixa estatura por deficiência do hormônio de crescimento: diagnóstico. In: Projeto diretrizes. Brasil.
  33. Life Sciences General Biochemistry, Genetics and Molecular Biology
    Alexander Augusto De Lima JORGE; Valéria Samuel LANDO; Maria Beatriz Da Fonte KOHEK; Berenice Bilharinho MENDONÇA. 2005. Aplicação de imunoensaios; genética e biologia molecular em neuroendocrinologia. In: Neuroendocrinologia básica e aplicada. Brasil.
  34. Health Sciences Neurology (clinical)
    Sonir R R ANTONINI; Fabio Luiz Fernandes ROSA; Suemi MARUI; Luciani R S CARVALHO; Maria Edna De MELO et al. 2005. Hipopituitarismo anterior. In: Neuroendocrinologia básica e aplicada. Brasil.
  35. Social Sciences & Humanities Psychology (miscellaneous)
    Alexander Augusto De Lima JORGE; Ivo Jorge Prado ARNHOLD; Berenice Bilharinho MENDONÇA. 2004. Baixa estatura por insensibilidade à ação do hormônio de crescimento. In: Fisiologia e fisiopatologia do hormônio de crescimento. Brasil.
  36. Life Sciences Physiology
    Alexander Augusto De Lima JORGE; Valéria Samuel LANDO; Maria Beatriz Da Fonte KOHEK; Berenice Bilharinho MENDONÇA. 2002. Métodos de dosagem hormonal em neuroendocrinologia. In: Neuroendocrinologia clínica e cirúrgica. Brasil.
    Não foram identificados no Currículo Lattes livros publicados.