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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. Grã-Bretanha.

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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.

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.

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.

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Marcela Moura FRANCA; Alexander Augusto Lima JORGE; Luciani Renata Silveira CARVALHO; Everlayny Fiorot COSTALONGA; Aline OTTO 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.

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. Brasil.

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.

Laura Cesar KAUPERT; S H Lemos MARINI; Maricilda Palandi De MELLO; Ricardo P P MOREIRA; Vinicius Nahime BRITO et al. 2013. The effect of fetal androgen metabolism-related gene variants on external genitalia virilization in congenital adrenal hyperplasia. Clinical genetics. 30, 482-488.

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. Brasil.

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.

Mariana Ferreira De Assis FUNARI; Renata C SCALCO; Berenice Bilharinho De MENDONÇA; Alexander Augusto Lima JORGE; Mirian Yumie NISHI. 2012. Baixa estatura desproporcional por mutações no gene shox. In: Investigação da baixa estatura: do fenótipo ao genótipo. Brasil.

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.

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.

Adriana Farrant BRAZ; Everlayny Fiorot COSTALONGA; F L M MONTENEGRO; Ericka Barbosa TRARBACH; 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. 94, E671-E677.

Alexandra MALAQUIAS; Amanda S BRASIL; Alexandre C PEREIRA; Ivo Jorge Prado ARNHOLD; Berenice Bilharinho De MENDONÇA 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.

Luciana Ribeiro MONTENEGRO; A ABELL; Andrea C LEAL; Debora Cabral COUTINHO; Helena Panteliou Lima VALASSI et al. 2012. Post-receptor igf-1 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.

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. Brasil.

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.

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. Estados Unidos.

Marcela Moura FRANCA; Alexander Augusto Lima JORGE; Kyriaki S ALATZOGLOU; Luciani Renata Silveira CARVALHO; Berenice Bilharinho De MENDONÇA 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, 1457-1460.

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.

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. Brasil.

R C SCALCO; Suzana S J MELO; Patricia Nascimbem Pugliese PIRES; Mariana Ferreira De Assis FUNARI; Mirian Yumie 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.

Patricia Nascimbem Pugliese PIRES; Jean Philippe FORTIN; Yantee ZHU; Berenice Bilharinho De MENDONÇA; Berenice Bilharinho MENDONÇA et al. 2010. Novel mutations in the growth hormone secretagogue receptor gene (ghsr) associated with constitutional delay in growth and puberty (cdgp). Brasil.

Franca M M; Alexandre A L JORGE; Luciani Renata Silveira De CARVALHO; Costalonga E F; 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.

Alexander Augusto Lima JORGE; Mariana Ferreira De Assis FUNARI; Mirian Yumie NISHI; Berenice Bilharinho MENDONÇA; Berenice Bilharinho De MENDONÇA. 2010. Short stature caused by isolated shox gene haploinsufficiency: update on the diagnosis and treatment. Pediatric endocrinology reviews: diabetes; nutrition; metabolism. 8, 79-85.

Madson Queiroz ALMEIDA; Ibere Cauduro SOARES; Tamaya C RIBEIRO; Maria Candida Barisson Villares FRAGOSO; Lidiane V MARINS 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.

Milena Gurgel Teles BEZERRA; Ericka Barbosa TRARBACH; N SEKONI; Gil Guerra JR; Alexander Augusto 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.

Debora Cabral COUTINHO; Andrea C LEAL; Luciana Ribeiro MONTENEGRO; Berenice Bilharinho De MENDONÇA; Berenice Bilharinho MENDONÇA et al. 2010. Novel mutations (p.g6r and p.r511w) in igf1r gene in children born small for gestacional age (sga) without catch-up growth. Brasil.

Andrea C LEAL; Luciana Ribeiro MONTENEGRO; Debora Cabral COUTINHO; Berenice Bilharinho De MENDONÇA; Berenice Bilharinho MENDONÇA et al. 2010. Novel mutations (p.r511w and p.g6r) in igf1r gene in children born small for gestacional age (sga) without catch-up growth. Estados Unidos.

Mariana Ferreira De Assis FUNARI; Alexander Augusto Lima JORGE; Silvia Corral De Arêa Leão SOUZA; Ana Elisa Correia 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.

Marcela Moura FRANCA; Alexander Augusto Lima JORGE; Luciani Renata Silveira CARVALHO; Gabriela A VASQUEZ; Berenice Bilharinho De MENDONÇA et al. 2010. Three novel gli2 mutations (l788fsx794; l694fsx732 and e380x) presenting as variable penetrance of pituitary hormone deficiencies without holoprosencephaly. Estados Unidos.

Debora Cabral COUTINHO; Andrea C LEAL; Luciana Ribeiro MONTENEGRO; Berenice Bilharinho De MENDONÇA; Berenice Bilharinho MENDONÇA et al. 2009. A novel mutation (p.r511w) in igf1r gene in a child born small for gestacional age without catch-up growth. Estados Unidos.

Marcela Moura FRANCA; Alexander Augusto Lima JORGE; Everlayny Fiorot COSTALONGA; Luciani Renata Silveira CARVALHO; Berenice Bilharinho MENDONÇA et al. 2009. A novel gli2 mutation l788fsx794 associated with combined pituitary hormone deficiency and polydactyly without holoprosencephaly. Estados Unidos.

Patricia Nascimbem Pugliese PIRES; Ivo Jorge Prado ARNHOLD; Berenice Bilharinho De MENDONÇA; Berenice Bilharinho MENDONÇA; Alexander Augusto Lima JORGE. 2009. Long term growth response to combined therapy with recombinant human growth hormone (rhgh) and gnrh analog (gnrha) in pubertal children with isolated shox defects. Estados Unidos.

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.

Patricia Nascimbem Pugliese PIRES; Luciani Renata Silveira CARVALHO; Berenice Bilharinho De MENDONÇA; Berenice Bilharinho MENDONÇA; Ivo Jorge Prado ARNHOLD et al. 2009. Two novel mutations in the growth hormone secretagogue receptor gene (ghsr) associated with severe growth hormone deficiency (ghd) and idiopathic short stature (iss). Estados Unidos.

Alexander Augusto Lima JORGE; Alexsandra Christianne Malaquias De Moura RIBEIRO; Ivo Jorge Prado ARNHOLD; Berenice Bilharinho MENDONÇA; Berenice Bilharinho De 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.

Alexsandra Christianne Malaquias De Moura RIBEIRO; 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. Estados Unidos.

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. Brasil.

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.

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. Brasil.

Maria Estela Justamante FARIA; Luciani Renata Silveira CARVALHO; Shirley M ROSSETTO; Alexander Augusto Lima JORGE; Ivo Jorge Prado ARNHOLD et al. 2009. Craniofacial and extremity growth evaluation in patients with turner syndrome during growth hormone therapy. Estados Unidos.

Costalonga E F; Coletta R R D; Antonini S R R; Gil Guerra JÚNIOR; Arnhold I J P et al. 2009. Analysis of the effect of a polimorphic ca repeat in the promoter region of igf1 gene on the growth response to rhgh therapy in patients with severe growth hormone deficiency (ghd). Finlândia.

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. Brasil.

Luciana Ribeiro MONTENEGRO; A C LEAL; Debora Cabral COUTINHO; Mirian Yumie 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 chromosome 11. Estados Unidos.

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. Brasil.

Luciani Renata Silveira CARVALHO; Alexander Augusto Lima JORGE; Regina Matsunaga MARTIN; Marcela Moura FRANCA; Everlayny Fiorot COSTALONGA et al. 2009. A homozygous mutation in the promoter region of growth hormone gene (gh1) in 3 siblings is associated with isolated growth hormone deficiency (ighd). Estados Unidos.

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.

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.

Mariana Ferreira De Assis FUNARI; Alexander Augusto Lima JORGE; Ivo Jorge Prado ARNHOLD; Emilia Modolo 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). Brasil.

Alexander Augusto Lima JORGE; Mirian Yumie NISHI; Silvia Corral De Arêa Leão SOUZA; Ivo Jorge Prado ARNHOLD; Berenice Bilharinho De MENDONÇA. 2008. Baixa estatura por haploinsuficiência do gene shox: do diagnóstico ao tratamento. Arquivos brasileiros de endocrinologia & metabologia. 52, 765-773.

Manuela Giuliano Marcondes ROCHA; Frederico Guimarães MARCHISOTTI; Maria Geralda Farah OSORIO; Suemi MARUI; Luciani Renata Silveira 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.

Alexsandra Christianne Malaquias De Moura RIBEIRO; Enecy Maria L BRENLHA; Rosy C UETI; Sueli Beirão OLIVEIRA; Ivo Jorge Prado ARNHOLD et al. 2008. Abnormal sitiling height: height ratio is more common in children with isolated shox gene defects than in girls with turner syndrome. Brasil.

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.

M M FRANÇA; Everlayny Fiorot COSTALONGA; Mirian Yumie NISHI; Luciani Renata Silveira 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. Peru.

Luciana Ribeiro MONTENEGRO; Debora Cabral COUTINHO; Ivo Jorge Prado ARNHOLD; Berenice Bilharinho MENDONÇA; Berenice Bilharinho De MENDONÇA et al. 2008. Impaired postreceptor igf-1 signaling in skin fibroblasts from children born small for gestacional age (sga). Peru.

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. Brasil.

Everlayny Fiorot COSTALONGA; Alexander Augusto Lima JORGE; Berenice Bilharinho De 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.

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. Brasil.

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. Estados Unidos.

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. Estados Unidos.

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.

Alexander Augusto Lima JORGE; Regina Matsunaga MARTIN; Karina BERGER; Everlayny Fiorot COSTALONGA; Luciana Ribeiro MONTENEGRO et al. 2007. First report of familial isolated growth hormone deficiency (ighd) caused by a homozygous mutation in the promoter region of growth hormone gene (gh1). Estados Unidos.

Mariana Ferreira De Assis FUNARI; Alexander Augusto Lima JORGE; Silvia Corral De Arêa Leão SOUZA; Berenice Bilharinho De MENDONÇA; Mirian Yumie NISHI. 2007. Identification of shox gene deletions in patients with disproportional short stature or léri-weill dyschondrosteosis: comparison between the fish technique and microsatellite study. Argentina.

Rocio Riatto Della COLETTA; Ricardo M GARCIA; Alexander Augusto Lima JORGE; Silvia Corral De Arêa Leão SOUZA; Emilia Modolo PINTO et al. 2007. Prediction factors in the determination of postnatal growth pattern in infants born small for gestacional age (sga). Estados Unidos.

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.

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. Brasil.

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. Brasil.

Rocio Riatto Della COLETTA; Silvia Corral De Arêa Leão SOUZA; Alexander Augusto Lima JORGE; Paulo Roberto PACHI; Ricardo A GARCIA et al. 2007. Determinação dos fatores preditivos da recuperação estatural em crianças nascidas pequenas para a idade gestacional. Brasil.

Debora Cabral COUTINHO; Rocio Riatto Della COLETTA; Elaine Maria Frade COSTA; Margareth BOGUSZEWSKI; Paulo Roberto PACHI et al. 2007. Presence of several polyadenylation signal polymorphisms in igf1 gene of children born small for gestacional age (sga) with and without postnatal catch-up growth. Argentina.

Marcos Tadashi K TOYOSHIMA; Luciana Audi CASTRONEVES; Everlayny Fiorot COSTALONGA; Berenice Bilharinho De 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.

Emilia Modolo PINTO; Eliana Salgado Turri FRAZZATTO; Sandra Mara Ferreira VILLARES; Ivo Jorge Prado ARNHOLD; Berenice Bilharinho De MENDONÇA et al. 2007. Absence of mutations in the mc4r gene in children with idiophatic short stature and low body mass index. Estados Unidos.

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. Brasil.

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.

Madson Queiroz ALMEIDA; Alexander Augusto Lima JORGE; Mirian Yumie NISHI; Antonio Marcondes LERÁRIO; Maria Candida Barisson Villares FRAGOSO et al. 2007. A selective igf-1 receptor kinase inhibitor (nvp-aew541) suppresses proliferation of the human adrenocortical cancer cell line nci h295 due to apoptosis induction. Brasil.

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.

Debora Cabral COUTINHO; Luciana Ribeiro MONTENEGRO; Rocio Riatto Della COLETTA; Elaine Maria Frade COSTA; Paulo Roberto PACHI et al. 2007. Presence of several polyadenylation signal polymorphisms in igf1 gene of children born small for gestacional age with and without catch-up growth. Estados Unidos.

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.

Debora Cabral COUTINHO; Silvia Corral De Arêa Leão SOUZA; Mirian Yumie NISHI; Ana Elisa Correia 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. Estados Unidos.

Alexander Augusto Lima JORGE; Silvia Corral De Arêa Leão SOUZA; Debora Cabral COUTINHO; Mirian Yumie NISHI; Ana Elisa Correia BILLERBECK et al. 2006. Frequency of shox mutations in idiopathic short stature (iss). Chile.

Luciana Audi CASTRONEVES; Marcos Tadashi K TOYOSHIMA; Ivo Jorge Prado ARNHOLD; Berenice Bilharinho De MENDONÇA; Alexander Augusto 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 crianças com baixa estatura idiopática e nascidas pequenas para a idade gestacional. Brasil.

Marcos Tadashi K TOYOSHIMA; Luciana Audi CASTRONEVES; Frederico Guimarães MARCHISOTTI; M P SOARES; M ROCHA et al. 2006. Comparação da velocidade de crescimento e do ganho de altura de crianças pré-puberes com diversas causas de baixa estatura tratadas com hormônio de crescimento recombinante humano (hgh) por um ano. Brasil.

Alexander Augusto Lima JORGE; Silvia Corral De Arêa Leão SOUZA; Debora Cabral COUTINHO; Mirian Yumie NISHI; Ana Elisa Correia BILLERBECK et al. 2006. Frequência 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. Brasil.

Alexander Augusto Lima JORGE; Luciana Ribeiro MONTENEGRO; Ivo Jorge Prado ARNHOLD; Berenice Bilharinho De MENDONÇA. 2006. Igf-i response of fibroblasts from noonan syndrome patients harboring constitutionaly active shp-2 protein. Chile.

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. França.

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. Brasil.

Alexander Augusto Lima JORGE; Valeria Samuel LANDO; Maria Beatriz Da Fonte KOHEK; Berenice Bilharinho De MENDONÇA. 2005. Aplicação de imunoensaios; genética e biologia molecular em neuroendocrinologia. In: Neuroendocrinologia básica e aplicada. Brasil.

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. Estados Unidos.

M P SOARES; Alexander Augusto Lima JORGE; Sueli Beirão OLIVEIRA; Elaine Maria Frade COSTA; Berenice Bilharinho De MENDONÇA et al. 2005. Predicition 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). Brasil.

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. Brasil.

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. França.

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.

Alexander Augusto Lima JORGE; Berenice Bilharinho De MENDONÇA; Ivo Jorge Prado ARNHOLD. 2004. Baixa estatura por insensibilidade a ação do hormônio de crescimento. In: Fisiologia e fisiopatologia do hormônio de crescimento. Brasil.

Alexander Augusto Lima JORGE; Ivo Jorge Prado ARNHOLD; Teresa S S LINS; C CAMACHOHÜBNER; Durval DAMIANI et al. 2004. Molecular estudies of four unrelated brazilian families with laron syndrome: the recurrence of ecuadorean-e180splice mutation. Austrália.

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. Brasil.

Alexander Augusto Lima JORGE; Silvia Corral De Arêa Leão SOUZA; Ivo Jorge Prado ARNHOLD; Berenice Bilharinho De MENDONÇA. 2004. The first homozygous mutation (sd226i) 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.

Alexander Augusto Lima JORGE; H C M Menezes FILHO; T S S LINS; D R GUEDES; Durval DAMIANI et al. 2004. Efeito fundador da mutação e 180splice no gene do receptor de hormônio de crescimento (ghr) identificada em seis pacientes brasileiros com insensibilidade ao gh. Brasil.

Alexander Augusto Lima JORGE; Lize Vargas FERREIRA; Catarina Brasil D ALVA; Silvia Corral De Arêa Leão 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 mutações no gene ptpn11. Brasil.

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.

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. Brasil.

Lize Vargas FERREIRA; Silvia Corral De Arêa Leão SOUZA; Ivo Jorge Prado ARNHOLD; Berenice Bilharinho De MENDONÇA; Alexander Augusto Lima JORGE. 2003. Screening for ptpn11 mutations in brazilian patients with noonan syndrome identification of novel mutation (n58d). México.

Catarina Brasil D ALVA; Alexander Augusto Lima JORGE; Berenice Bilharinho De MENDONÇA. 2003. Diagnóstico e tratamento do hiperaldosteronismo primário. Hipertensão. Brasil. 6, (2) 50-54.

Alexander Augusto Lima JORGE; Chin Jia LIN; Silvia Corral De Arêa Leão SOUZA; Ivo Jorge Prado ARNHOLD; Berenice Bilharinho De MENDONÇA. 2003. Screening for ghr mutations in children with idiopathic short stature (iss): identification of two novel mutations (n103s and r368c). Estados Unidos.

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. Brasil.

Suemi MARUI; Silvia Corral De Arêa Leão SOUZA; Luciani Renata Silveira CARVALHO; Alexander Augusto Lima JORGE; Berenice Bilharinho De MENDONÇA et al. 2002. Bases genéticas dos distúrbios fe crescimento. Arquivos brasileiros de endocrinologia & metabologia. 46, (4) 444-456.

Alexander Augusto Lima JORGE; Silvia Corral De Arêa Leão SOUZA; Ivo Jorge Prado ARNHOLD; Berenice Bilharinho De 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.

Alexander Augusto Lima JORGE; Chin Jia LIN; Silvia Corral De Arêa Leão SOUZA; Ivo Jorge Prado ARNHOLD; Berenice Bilharinho De MENDONÇA. 2002. A new mutation in ghr gene located in wsxws-like motif in a child with laron syndrome. Estados Unidos.

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. Brasil.

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. Uruguai.

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. Brasil.

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.

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. Brasil.

Alexander Augusto Lima JORGE; Valeria Samuel LANDO; Maria Beatriz Da Fonte KOHEK; Berenice Bilharinho De MENDONÇA. 2002. Métodos de dosagem hormonal em neuroendocrinologia. In: Neuroendocrinologia clínica e cirúrgica. Brasil.

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. Brasil.

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. Brasil.

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. Canadá.

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. Canadá.

Silvia Corral De Arêa Leão SOUZA; Alexander Augusto Lima JORGE; Mirian Yumie NISHI; Ana Elisa Correia BILLERBECK; Ana Claudia LATRONICO et al. 2000. Absence of point mutation in exons 3 and 4 of shox gene in patients with noonan syndrome. Estados Unidos.

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. Argentina.

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.

Luciani Renata Silveira CARVALHO; Maria Geralda Farah OSORIO; Alexander Augusto Lima JORGE; Ivo Jorge Prado ARNHOLD; Berenice Bilharinho De MENDONÇA. 2000. Long-term hight therapy causing acromegalic features in patients with gh deficiency or turner syndrome. Estados Unidos.

Karla Fabiana Santana De Melo Cabral FAGUNDES; Regina Matsunaga MARTIN; Elaine Maria Frade COSTA; Alexander Augusto Lima JORGE; Ivo Jorge Prado ARNHOLD et al. 2000. An unusual phenotype in a male patient with frasier syndrome due to ivs9ds+4c>t mutation: perineal hypospadias. Argentina.

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. Peru.

Alexander Augusto Lima JORGE; Silvia Corral De Arêa Leão SOUZA; Ivo Jorge Prado ARNHOLD; Berenice Bilharinho De MENDONÇA. 1999. Igf1 and igfbp3 generation test in the evaluation of short stature. Peru.

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. Peru.

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). Brasil.

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.

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. Argentina.

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. Brasil.

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. Brasil.

Alexander Augusto De Lima JORGE; Walter BLOISE; Antonio Marmo LUCON; Berenice Bilharinho MENDONÇA. 1996. Feocromocitoma vesical; associado a ejaculação precoce. Brasil.

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.

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-.

Laura Cesar KAUPERT; S H Lemos MARINI; Maricilda Palandi De MELLO; Ricardo P P MOREIRA; Vinicius Nahime BRITO et al. 2013. The effect of fetal androgen metabolism-related gene variants on external genitalia virilization in congenital adrenal hyperplasia. Clinical genetics. 30, 482-488.

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.

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-.

Tolezano Giovanna CANTINI; Bastos Giovanna CIVITATE; Da Costa Silvia SOUZA; Scliar Marília De OLIVEIRA; De Souza Carolina Fischinger MOURA et al. 2024. Clinical characterization and underlying genetic findings in brazilian patients with syndromic microcephaly associated with neurodevelopmental disorders. Molecular neurobiology. -, ---.

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. online, online ahead-Online ahead.

Tolezano Giovanna CANTINI; Bastos Giovanna CIVITATE; Da Costa Silvia SOUZA; Freire Bruna LUCHEZE; Homma Thais KATAOKA et al. 2022. Burden of rare copy number variants in microcephaly: a brazilian cohort of 185 microcephalic patients and review of the literature. Journal of autism and developmental disorders. 00, 00-.

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.

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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.

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. S0022-, 1082-0.

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Amanda Salem BRASIL; Malaquias ALEXSANDRA; Wanderely LUCIANA; A C KIM; Krieger J E 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.

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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.

Laura Cesar KAUPERT; S H Lemos MARINI; Maricilda Palandi De MELLO; Ricardo P P MOREIRA; Vinicius Nahime BRITO et al. 2013. The effect of fetal androgen metabolism-related gene variants on external genitalia virilization in congenital adrenal hyperplasia. Clinical genetics. 30, 482-488.

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. epub, 1-10.