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Carlos Eduardo Steiner

Dados pessoais

  • HS Health Sciences
  • LS Life Sciences
  • MU Multidisciplinary
  • PS Physical Sciences
  • SH Social Sciences & Humanities
# Nome Links Grande Área Área
1 Anete Sevciovic GRUMACH Ciências da Saúde Medicina
2 Chong Ae KIM Ciências da Saúde Medicina
3 Dafne Dain Gandelman HOROVITZ Ciências da Saúde Medicina
4 Decio BRUNONI Ciências Biológicas Genética
5 Fernando CENDES Ciências da Saúde Medicina
6 Iscia Teresinha Lopes CENDES Ciências Biológicas Genética
7 José Simon Camelo JUNIOR Ciências da Saúde Medicina
8 Lília Freire Rodrigues De Souza LI Ciências da Saúde Medicina
9 Paulo DALGALARRONDO Ciências da Saúde Medicina
10 Roberto GIUGLIANI CpE Ciências Biológicas Genética
11 Vera Lúcia Gil Da Silva LOPES Ciências Biológicas Genética
12 Vera Maria Santoro BELANGERO Ciências da Saúde Medicina
Figura 1. Número de publicações por ano e por tipo, considerando todas as publicações.
  1. Life Sciences Genetics
    Milena SIMIONI; Joana Rosa PROTA; Carlos Eduardo STEINER; Antonia Paula Marques De FARIA; Josiane SOUZA et al. 2013. Genomic imbalances investigation in apparently balanced chromosomal rearrangementes carriers. In: 9th european cytogenetics conference. Brasil.
  2. Health Sciences Genetics (clinical)
    Roberto GIUGLIANI; K JESUÍNO; A BRITES; Célio Luiz RAFAELI; Maira Graeff BURIN et al. 2013. Report of the first 1000 patients identified by the mucopolysaccharidosis brazil network. In: Ix latin american congress of inborn errors of metabolism and newborn screening. Colômbia.
  3. Life Sciences Genetics
    Daniel Zanetti SCHERRER; Maria Beatriz PUZZI; Cláudia Vianna Maurer MORELLI; Carlos Eduardo STEINER. 2011. Mutations in pycr1 gene in three families with autosomal recessive cutis laxa; type 2. In: European human genetics conference 2011. Holanda.
  4. Health Sciences Genetics (clinical)
    Milena SIMIONI; Carlos Eduardo STEINER; Agnes C Fett CONTE; A Barbosa GONÇALVES; Vera Lúcia Gil Da Silva LOPES. 2010. Molecular investigation of tbx1 gene in individuals with asperger syndrome. In: European human genetics conference 2010. Brasil.
  5. Life Sciences Biochemistry, Genetics and Molecular Biology (miscellaneous)
    Carolina SOUZA; Ida SCHWARTZ; ; Carlos Eduardo STEINER. 2009. Msud in brazil: report from a collaborative study. In: International congress of inborn errors of metabolism. Estados Unidos.
  6. Life Sciences Genetics
    Ida SCHWARTZ; Carolina SOUZA; Andressa FEDERHEN; ; Carlos Eduardo STEINER. 2009. Mps-brazil network (2004 ? 2009): epidemiological update on mucopolysaccharidosis in brazil. In: International congress of inborn errors of metabolism. Estados Unidos.
  7. Health Sciences Medicine (miscellaneous)
    Roberto GIUGLIANI; Ida Vanessa Doederlein SCHWARTZ; Andressa FEDERHEN; Célio Luiz RAFAELI; Louise Lapagesse PINTO et al. 2007. Mps-brazil network: a country wide initiative to improve diagnosis and management of mucopolysaccharidoses in brazil. In: 3rd international conference on birth defects and disabilities in the developing world. Brasil.
  8. Life Sciences Genetics
    Camila Braun HEINKE; Daniel Zanetti SCHERRER; Carmen Silvia BERTUZZO; Verônica De Araújo ZANARDI; Andréia Vasconcelos FARIA et al. 2007. X-linked adrenoleukodistrophy: clinical characterization and neuroimaging of a family. In: 3rd international conference on birth defects and disabilities in the developing world. Brasil.
  9. Life Sciences Genetics
    Daniel Zanetti SCHERRER; Fabiana ALEXANDRINO; Edi Lúcia SARTORATO; Carlos Eduardo STEINER. 2007. Molecular analysis of fibulin-4 gene in patients with type ii autosomal recessive cutis laxa; "wrinkly skin syndrome" or gerodermia osteodysplastica. In: 3rd international conference on birth defects and disabilities in the developing world. Brasil.
  10. Health Sciences Genetics (clinical)
    Taiane VIEIRA; Ida SCHWARTZ; Verônica MUÑOZ; Louise Lapagesse PINTO; Carlos Eduardo STEINER et al. 2007. Mucopolysaccharidoses in brazil: what happens from birth until biochemical diagnosis. In: 3rd international conference on birth defects and disabilities in the developing world. Brasil.
  11. Health Sciences Genetics (clinical)
    Marins Ana MARIA; ; Carlos Eduardo STEINER. 2007. Perfil clínico e evolução de pacientes com doença de fabry em terapia de reposição enzimática inscritos no fabry registry do brasil. In: Vi congreso latinoamericano de errores innatos de metabolismo y pesquisa neonatal. Uruguai.
  12. Health Sciences Medicine (miscellaneous)
    Taiane VIEIRA; Ida Vanessa Doederlein SCHWARTZ; Verônica MUÑOZ; Louise Lapagesse PINTO; Carlos Eduardo STEINER et al. 2007. A longa trajetória do nascimento até o diagnóstico: um estudo em 113 pacientes brasileiros com mucopolissacaridose. In: Vi congreso latinoamericano de errores innatos de metabolismo y pesquisa neonatal. Uruguai.
  13. Health Sciences Medicine (miscellaneous)
    Ida SCHWARTZ; Andressa FEDERHEN; ; Carlos Eduardo STEINER. 2007. Rede mps-brasil: 3 anos facilitando o diagnóstico e o manejo das mucopolissacaridoses no brasil. In: Vi congreso latinoamericano de errores innatos de metabolismo y pesquisa neonatal. Uruguai.
  14. Life Sciences Genetics
    Lopes SÉRGIO; Costa ANDRÉ; Menezes A V; Almeida S; Carlos Eduardo STEINER. 2005. Pycnodysostosis: an early case report with emphasys to the odontological and radiographic findings. In: Iii international dental meeting & xii dental meeting of piracicaba. Brasil.
  15. Social Sciences & Humanities Psychology (miscellaneous)
    Daniela Varela LUQUETTI; Antonia Paula Marques De FARIA; Carlos Eduardo STEINER. 2004. Déficit de crescimento; retardo mental e dismorfismos faciais: relato do terceiro paciente. In: Xvi cbgc. Brasil.
  16. Health Sciences Medicine (miscellaneous)
    Ruy Pires De Oliveira SOBRINHO; Carlos Eduardo STEINER. 2004. Síndrome da hipopigmentação óculo-cutânea de preus. In: Xvi cbgc. Brasil.
  17. Health Sciences Medicine (miscellaneous)
    Mariam Patrícia AUADA; Carlos Eduardo STEINER; Maria Beatriz PUZZI; Antonia Paula Marques De FARIA. 2003. Complexidade no aconselhamento genético quando há coexistência de distúrbios geneticamente determinados. In: Xv congresso brasileiro de genética clínica. Brasil.
  18. Physical Sciences Computer Science (miscellaneous)
    Daniela Varela LUQUETTI; Carlos Eduardo STEINER; Antonia Paula Marques De FARIA. 2003. Deleção 9q12 em mosaico e autismo. In: Xv congresso brasileiro de genética clínica. Brasil.
  19. Health Sciences Medicine (miscellaneous)
    Mariam Patrícia AUADA; Carlos Eduardo STEINER; Maria Beatriz PUZZI; Antonia Paula Marques De FARIA. 2003. Síndrome de ruvalcaba-myhre-smith: importância da avaliação dermatológica. In: 58o congresso brasileiro de dermatologia. Brasil.
  20. Health Sciences Genetics (clinical)
    Ariane M Prieto MEJIA; Sandra Maria BIELLA; Carlos Eduardo STEINER; Mariam Patrícia AUADA; Maria Beatriz PUZZI et al. 2003. Perfil social dos pacientes acompanhados no ambulatório de genodermatoses. In: V encontro de pesquisa na área de serviço social da puc-campinas e unicamp. Brasil.
  21. Health Sciences Psychiatry and Mental Health
    Carlos Eduardo STEINER; Marilisa Mantovani GUERREIRO; Antonia Paula Marques De FARIA. 2002. Outcomes of a genetic and neurological evaluation in 84 individuals with pervasive developmental disorders. In: 2002 annual meeting of the american society of human genetics. Estados Unidos.
  22. Health Sciences Psychiatry and Mental Health
    Antonia Paula Marques De FARIA; Carlos Eduardo STEINER; Marilisa Mantovani GUERREIRO. 2002. Outcomes of a genetic and neurological evaluation in 84 individuals with pervasive developmental disorders. In: Congress of the american society of human genetics. Estados Unidos.
  23. Health Sciences Genetics (clinical)
    Carlos Eduardo STEINER; Maria Eugenia Ribeiro CAMARGO; Teresa Cristina Lima E SILVA; Daniela FACCHIN; Antonia Paula Marques De FARIA et al. 2001. Comparação entre o uso das técnicas de citogenética; pcr e southern blotting no diagnóstico da síndrome do cromossomo x frágil. In: Xiii congresso brasileiro de genética clínica. Brasil.
  24. Health Sciences Pediatrics, Perinatology and Child Health
    Carlos Eduardo STEINER; Marilisa Mantovani GUERREIRO; Antonia Paula Marques De FARIA. 2001. Preliminary findings in the diagnostic evaluation of a sample of 103 individuals with pervasive development disorders. In: 10th international congress of human genetics societies. Austria.
  25. Health Sciences Psychiatry and Mental Health
    Carlos Eduardo STEINER; Marilisa Mantovani GUERREIRO; Antonia Paula Marques De FARIA. 2001. Preliminary findings in the diagnostic evaluation of a sample of 103 individuals with pervasive developmental disorders. In: 10th international congress of human genetics. Austria.
  26. Health Sciences Medicine (miscellaneous)
    Eliane KOBAYASHI; Daniela FACCHIN; Carlos Eduardo STEINER; A V A LEONE; Nilma Lúcia Viguetti CAMPOS et al. 2001. Mesial temporal lobe abnormalities in a family with 15q26-ter trisomy. In: Congress of the american society of human genetics. Estados Unidos.
  27. Life Sciences Parasitology
    Carlos Eduardo STEINER; Maria Letícia CINTRA; Antonia Paula Marques De FARIA. 2000. Displasia ectodérmica com acantosis nigricans: síndrome de lelis?. In: Xii congresso brasileiro de genética clínica. Brasil.
  28. Health Sciences Medicine (miscellaneous)
    Carlos Eduardo STEINER; Maria Eugenia Ribeiro CAMARGO; Teresa Cristina Lima E SILVA; Daniela FACCHIN; Antonia Paula Marques De FARIA et al. 2000. Triagem para a mutação fraxa pela técnica da pcr em uma amostra de indivíduos com distúrbios invasivos do desenvolvimento. In: Xii congresso brasileiro de genética clínica. Brasil.
  29. Health Sciences Neurology (clinical)
    Daniela FACCHIN; Eliane KOBAYASHI; Fernando CENDES; Carlos Eduardo STEINER; A V A LEONE et al. 2000. Epilepsia generalizada secundária em pacientes com 46;xy;der(15)t(15-12)(q26-p13). In: Xii congresso brasileiro de genética clínica. Brasil.
  30. Health Sciences Medicine (miscellaneous)
    Daniela FACCHIN; Eliane KOBAYASHI; Fernando CENDES; Carlos Eduardo STEINER; A V A LEONE et al. 2000. Epilepsia secundária e deficiência mental relacionada a alterações citogenéticas. In: Xix congresso brasileiro de neurologia e ii encontro luso-brasileiro de neurologia. Brasil.
  31. Health Sciences Medicine (miscellaneous)
    Carlos Eduardo STEINER; Maria Eugenia Ribeiro CAMARGO; Teresa Cristina Lima E SILVA; Daniela FACCHIN; Antonia Paula Marques De FARIA et al. 2000. Screening for the fraxa mutation using the pcr technique in a sample of individuals with pervasive developmental disorders. In: Xix congresso brasileiro de neurologia e ii encontro luso-brasileiro de neurologia. Brasil.
  32. Social Sciences & Humanities Psychology (miscellaneous)
    Carlos Eduardo STEINER; Marilisa Mantovani GUERREIRO; Antonia Paula Marques De FARIA. 2000. Resultados preliminares na investigação diagnóstica de uma amostra de 103 indivíduos com distúrbios invasivos do desenvolvimento. In: V congresso brasileiro de autismo e ix jornada regional de autismo da região sul. Brasil.
  33. Life Sciences Genetics
    Carlos Eduardo STEINER; Marilisa Mantovani GUERREIRO; Antonia Paula Marques De FARIA. 1999. Preliminary findings in a clinical-genetic study of autism. In: Xi congresso brasileiro de genética clínica. Brasil.
  34. Health Sciences Neurology (clinical)
    Carlos Eduardo STEINER; Gisele Viana De OLIVEIRA; Antonio Carlos MODOLO; Maria Letícia CINTRA; Antonia Paula Marques De FARIA. 1999. Deafness; palmoplantar hyperkeratosis; and knuckle pads with male-to-male transmission: bart-pumphrey syndrome?. In: Xi congresso brasileiro de genética clínica. Brasil.
  35. Life Sciences Genetics
    Carlos Eduardo STEINER; Edi Lúcia SARTORATO; Fernanda C REIS; Sandra Cristina Pena De CASTRO; Antonia Paula Marques De FARIA. 1998. Sjögren-larsson syndrome: clinical and molecular findings in a brazilian family. In: 44 congresso nacional de genética. Brasil.
  36. Life Sciences Neurology
    Carlos Eduardo STEINER; Martin TORRIANI; Denise Yvonne Janovitz NORATO; Antonia Paula Marques De FARIA. 1998. Spondylocarpotarsal synostosis syndrome: a case report. In: X congresso brasileiro de genética clínica e i simpósio luso-brasileiro de genética médica. Brasil.
  37. Life Sciences Genetics
    Iscia Lopes CENDES; Helio A G TEIVE; Isabel SILVEIRA; Jaime Antunes MACIEL; J RADVANY et al. 1996. Frequency of the three mutations causing spinocerebellar ataxia (sca1; mjd/sca3 and drpla) in brazilian patients. In: 9th international congress of human genetics. Brasil.
  38. Health Sciences Medicine (miscellaneous)
    Andrea Trevas Maciel GUERRA; Antonia Paula Marques De FARIA; Carlos Eduardo STEINER; Roberto Benedito Paiva E SILVA. 1996. Is this genetic counseling?. In: 9th internacional congress of human genetics. Brasil.
  39. Health Sciences Medicine (miscellaneous)
    Carlos Eduardo STEINER; Gisele Santos De OLIVIEIRA; Antonia Paula Marques De FARIA. 1996. Type ii autosomal recessive cutis laxa: on purpose of two cases. In: Viii reunião anual da sociedade brasileira de genética clínica. Brasil.
  40. Health Sciences Medicine (miscellaneous)
    Joao Ivanildo Da Costa Ferreira NERI; Carlos Eduardo STEINER; Gisele Santos De OLIVIEIRA; Antonia Paula Marques De FARIA. 1996. Kabuki syndrome: a really uncommon syndrome outside of japan? clinical picture of six brazilian patients. In: Viii reunião anual da sociedade brasileira de genética clínica. Brasil.
  41. Life Sciences Genetics
    Andrea Trevas Maciel GUERRA; Antonia Paula Marques De FARIA; Carlos Eduardo STEINER; Roberto Benedito Paiva E SILVA. 1996. Is this genetic counseling?. In: 9th international congress of human genetics. Brasil.
  42. Life Sciences Neurology
    Joao Ivanildo Da Costa Ferreira NERI; Carlos Eduardo STEINER; Ruy Pires De Oliveira SOBRINHO; Denise Yvonne Janovitz NORATO. 1994. Síndrome de dyggve-melchior-clausen. In: Vi reunião anual da sociedade brasileira de genética clínica. Brasil.
  43. Health Sciences Medicine (miscellaneous)
    Carlos Eduardo STEINER; Joao Ivanildo Da Costa Ferreira NERI; Tatiana TAKAHASHI; Antonia Paula Marques De FARIA. 1994. Síndrome tricorrinofalangeana tipo ii (langer-gidion). In: Vi reunião anual da sociedade brasileira de genética clínica. Brasil.
  44. Health Sciences Medicine (miscellaneous)
    Carlos Eduardo STEINER; Denise Yvonne Janovitz NORATO; Roberto GIUGLIANI. 1994. Deficiência múltipla de sulfatases. In: Vi reunião anual da sociedade brasileira de genética clínica. Brasil.
  45. Life Sciences Neuroscience (miscellaneous)
    Adriano Dias De OLIVEIRA; Carlos Eduardo STEINER; Claudia Zendron DIAS; Suzan M FUKUDA. 1992. Feto arlequim: descrição de um caso. In: Xlvii congresso brasileiro de dermatologia. Brasil.
  46. Health Sciences Medicine (miscellaneous)
    Carlos Eduardo STEINER; Neude GUZI; M B RODRIGUES; Paulo Bayer TULESKI; Jony Carlos Karvat HARTMANN. 1988. Diagnóstico clínico: cuidaids com o kaposi!. In: I painel de anatomia patológica da disciplina de anatomia patológica do departamento de patologia clínica do setor de ciências da saúde da ufpr. Brasil.
  47. Life Sciences Physiology
    Carlos Eduardo STEINER; Paulo Bayer TULESKI; Jony Carlos Karvatt HARTMANN; Neude GUZI; Rosangela Maria Pereira De CARLOS. 1987. Fisiologia do músculo cardíaco. In: Iv seminário estudantil de trabalhos em fisiologia do departamento de fisiologia do setor de ciências da saúde da ufpr. Brasil.
  1. Life Sciences Genetics
    Di Lazzaro Filho RICARDO; Yamamoto Guilherme LOPES; Silva Tiago J; Rocha Leticia A; Linnenkamp Bianca D W et al. 2023. Biallelic variants in cause poikiloderma with congenital cataracts and severe growth failure reminiscent of rothmund-thomson syndrome. Jounal of medical genetics. 1, jmg-2022-109119-.
  2. Health Sciences Medicine (miscellaneous)
    Félix Têmis MARIA; De Oliveira Bibiana MELLO; Artifon MILENA; Carvalho ISABELLE; Bernardi Filipe ANDRADE et al. 2022. Epidemiology of rare diseases in brazil: protocol of the brazilian rare diseases network (raras-brdn). Orphanet journal of rare diseases. 17, 84-.
  3. Health Sciences Psychiatry and Mental Health
    Gabriela Roldão Correia COSTA; Ana Mondadori Dos SANTOS; Nicole De LEEUW; Sumara Zuanazi Pinto RIGATYO; Vera Maria Santoro BELANGERO et al. 2022. Dual molecular diagnoses of recessive disorders in a child from consanguineous parents: case report and literature review. Https://doi.org/10.3390/genes13122377. 13, 2377-.
  4. Health Sciences Genetics (clinical)
    Stockler Ipsiroglu SYLVIA; Yazdanpanah NAHID; Yazdanpanah MOJGAN; Moisa Popurs MARIOARA; Yuskiv NATALIYA et al. 2021. Morquio-like dysostosis multiplex presenting with neuronopathic features is a distinct -related phenotype. Jimd reports. 00, jmd2.12211-.
  5. Health Sciences Medicine (miscellaneous)
    Montenegro Yorran Hardman ARAÚJO; Souza Carolina Fischinger MOURA; Kubaski FRANCYNE; Trapp Franciele BARBOSA; Burin Maira GRAEFF et al. 2021. Sanfilippo syndrome type b: analysis of patients diagnosed by the <scp>mps</scp> brazil network. American journal of medical genetics part a. 1, 1-8.
  6. Health Sciences Psychiatry and Mental Health
    Montenegro Yorran Hardman ARAÚJO; Baldo GUILHERME; Roberto GIUGLIANI; Poswar Fabiano De OLIVEIRA; Sobrinho Ruy Pires De OLIVEIRA et al. 2021. Schizophreniform presentation and abrupt neurologic decline in a patient with late-onset mucopolysaccharidosis type iiib. Psychiatric genetics. Publish Ahead of Print, 199-204.
  7. Life Sciences Neuroscience (miscellaneous)
    Mejía Granados Diana MARCELA; De Baptista Marcella BERGAMINI; Bonadia Luciana CARDOSO; Bertuzzo Carmen SILVIA; Carlos Eduardo STEINER. 2020. <p>clinical and molecular investigation of familial multiple lipomatosis: variants in the hmga2</em> gene</p>. Clinical; cosmetic and investigational dermatology. Volume 13, 1-10.
  8. Health Sciences Medicine (miscellaneous)
    Visentainer LORENA; Kazmarek Laura MOYA; Magalhães Renata FERREIRA; Carlos Eduardo STEINER; Sotto Mirian NACAGAMI et al. 2020. Epidermolysis bullosa pruriginosa. American journal of dermatopathology. 00, 1-.
  9. Life Sciences Neuroscience (miscellaneous)
    Moysés Oliveira MARIANA; Di Battista ADRIANA; Zamariolli MALÚ; Meloni Vera AYRES; Bragagnolo SILVIA et al. 2019. Breakpoint mapping at nucleotide resolution in x-autosome balanced translocations associated with clinical phenotypes. European journal of human genetics. 27, 1-12.
  10. Health Sciences Genetics (clinical)
    Giugliani LUCIANA; Carlos Eduardo STEINER; Kim Chong AE; Lourenço Charles MARQUES; Santos Mara Lucia Schmitz FERREIRA et al. 2019. Clinical findings in brazilian patients with adult gm1 gangliosidosis. Jimd reports. jmd2.1, jmd2.12067-11.
  11. Life Sciences Genetics
    Sperb Ludwig FERNANDA; Pinheiro Franciele CABRAL; Bettio Soares MALU; Nalin TATIELE; Ribeiro Erlane MARQUES et al. 2019. Glycogen storage diseases: twenty-seven new variants in a cohort of 125 patients. Molecular genetics & genomic medicine. -, e877--.
  12. Health Sciences Genetics (clinical)
    Poloni SORAIA; Sperb Ludwig FERNANDA; Borsatto TACIANE; Weber Hoss GIOVANA; Doriqui Maria Juliana R et al. 2018. Cbs</i> mutations are good predictors for b6-responsiveness: a study based on the analysis of 35 brazilian classical homocystinuria patients. Molecular genetics & genomic medicine. 6, 160-170.
  13. Health Sciences Medicine (miscellaneous)
    Poloni SORAIA; Hoss Giovana W; Sperb Ludwig FERNANDA; Borsatto TACIANE; Doriqui Maria Juliana R et al. 2018. Diagnosis and management of classical homocystinuria in brazil. Journal of inborn errors of metabolism & screening. 6, 232640981878890-.
  14. Life Sciences Genetics
    Simioni MILENA; Artiguenave FRANÇOIS; Meyer VINCENT; Sgardioli Ilária C; Viguetti Campos Nilma L et al. 2017. Genomic investigation of balanced chromosomal rearrangements in patients with abnormal phenotypes. Molecular syndromology. 8, 187-194.
  15. Life Sciences Genetics
    Cunha Karina S; Simioni MILENA; Vieira Tarsis P; Gil Da Silva Lopes Vera L; Puzzi Maria B et al. 2016. Tetrasomy 3q26.32-q29 due to a supernumerary marker chromosome in a child with pigmentary mosaicism of ito. Genetics and molecular biology (online version). 39, 35-39.
  16. Life Sciences Genetics
    Garcia Daniel F; Camelo José S; Molfetta Greice A; Turcato MARLENE; Souza Carolina F M et al. 2016. Clinical profile and molecular characterization of galactosemia in brazil: identification of seven novel mutations. Bmc medical genetics (online). 17, 1-1.
  17. Life Sciences Genetics
    Marcella Bergamini De BAPTISTA; Daniel Zanetti SCHERRER; Luciana Cardoso BONADIA; Carlos Eduardo STEINER. 2016. Molecular analysis of 9 unrelated families presenting with juvenile and chronic gm1 gangliosidosis. Journal of inborn errors of metabolism & screening. 4, 1-5.
  18. Health Sciences Medicine (miscellaneous)
    Carlos Eduardo STEINER. 2015. Mowat-wilson syndrome. Arquivos de neuro-psiquiatria (impresso). 73, 1-2.
  19. Life Sciences Genetics
    João Stein KANNEBLEY; Laura Silveira MORIYAMA; Laís Orrico Donnabella BASTOS; Carlos Eduardo STEINER. 2015. Clinical findings and natural history in ten unrelated families with juvenile and adult gm1 gangliosidosis. Jimd reports. 24, 115-122.
  20. Health Sciences Genetics (clinical)
    Bitencourt Fernanda Hendges DE; Vieira Taiane ALVES; Carlos Eduardo STEINER; Neto Jordão CORREA; Raquel BOY et al. 2015. Medical costs related to enzyme replacement therapy for mucopolysaccharidosis types i; ii; and vi in brazil: a multicenter study. Value in health regional issues (print). 8, 99-106.
  21. Life Sciences Genetics
    Simioni MILENA; Carlos Eduardo STEINER; Gil Da Silva Lopes Vera LÚCIA. 2015. De novo double reciprocal translocations in addition to partial monosomy at another chromosome: a very rare case. Gene (amsterdam). 573, 166-170.
  22. Life Sciences Genetics
    Guilherme Roberta SANTOS; Soares Karina CUNHA; Simioni MILENA; Vieira Tarsis PAIVA; Gil Da Silva Lopes Vera LÚCIA et al. 2014. Clinical; cytogenetic; and molecular characterization of six patients with ring chromosomes 22; including one with concomitant 22q11.2 deletion. American journal of medical genetics. part a. 164, 1659-1665.
  23. Life Sciences Biochemistry, Genetics and Molecular Biology (miscellaneous)
    Dornelles Alícia DORNELES; Pinto Louise Lapagesse De CAMARGO; Paula Ana Carolina DE; Carlos Eduardo STEINER; Lourenço Charles MARQUES et al. 2014. Enzyme replacement therapy for mucopolysaccharidosis type i among patients followed within the mps brazil network. Genetics and molecular biology (impresso). 37, 23-29.
  24. Social Sciences & Humanities Psychology (miscellaneous)
    Carlos Eduardo STEINER; Cavalcanti Denise PONTES. 2014. Christine hackel (1955-2013). Genetics and molecular biology (impresso). 37, v-v.
  25. Health Sciences Medicine (miscellaneous)
    Federhen ANDRESSA; Maria BURIN; Sandra LEISTNER; Ursula MATTE; Karlla JESUÍNO et al. 2014. The mucopolysaccharidosis brazil network: a decade helping to identify patients with mucopolysaccharidosis around the world. Journal of inborn errors of metabolism and screening. I, 7-.
  26. Life Sciences Genetics
    Kozuki C G; Carlos Eduardo STEINER. 2014. Consanguinity and geographic origin of patients with autosomal recessive metabolic disorders evaluated in a reference service in campinas; brazil. Journal of inborn errors of metabolism & screening. 2, 1-5.
  27. Life Sciences Genetics
    Carlin Marcelo PASCHOALETE; Scherrer Daniel ZANETTI; Tommaso Adriana Maria Alves DE; Bertuzzo Carmen SILVIA; Carlos Eduardo STEINER. 2013. Determining mutations in g6pc and slc37a4 genes in a sample of brazilian patients with glycogen storage disease types ia and ib. Genetics and molecular biology (impresso). 36, 502-506.
  28. Life Sciences Genetics
    Pegoraro Luiz F L; Carlos Eduardo STEINER; Celeri Eloisa H R V; Banzato Claudio E M; Dalgalarrondo PAULO. 2013. Cognitive and behavioral heterogeneity in genetic syndromes. Jornal de pediatria (impresso). 90, 155-160.
  29. Health Sciences Neurology (clinical)
    Adur JAVIER; Dsouza Li LILIA; Pedroni Marcus VINÍCIUS; Carlos Eduardo STEINER; Pelegati Vitor B et al. 2013. The severity of osteogenesis imperfecta and type i collagen pattern in human skin as determined by nonlinear microscopy: proof of principle of a diagnostic method. Plos one. 8, e69186-.
  30. Life Sciences Genetics
    Scherrer D Z; Baptista M B; Matos Alexandre Hilario BERENGUER; Maurer Morelli C V; Carlos Eduardo STEINER. 2013. Mutations in pycr1 gene in three families with autosomal recessive cutis laxa; type 2. European journal of medical genetics. 56, 336-339.
  31. Life Sciences Genetics
    Solomon B D; Bear K A; Wyllie A; Keaton A A; Dubourg C et al. 2012. Genotypic and phenotypic analysis of 396 individuals with mutations in sonic hedgehog. Journal of medical genetics (print). 49, 473-479.
  32. Health Sciences Neurology (clinical)
    Roberto José Negrão NOGUEIRA; Leonardo Ferreira ZIMMERMANN; Yara Maria Franco MORENO; Cláudia Regina COMPARINI; Danilo Vilela VIANA et al. 2011. Anthropometric and body-mass composition suggests an intrinsic feature in williams-beuren syndrome. Revista da associação médica brasileira (1992. impresso). 57, 681-685.
  33. Health Sciences Medicine (miscellaneous)
    Morini Sandra REGINA; Carlos Eduardo STEINER; Gerson Lélia Brito PASSOS. 2010. Mucopolysaccharidosis type ii: skeltal-muscle system involvement. Journal of pediatric orthopedics. part b. 19, 313-317.
  34. Health Sciences Genetics (clinical)
    Raquel BOY; Ida Vanessa Doederlein SCHWARTZ; Barbara C KRUG; Luis Carlos Santana Da SILVA; Carlos Eduardo STEINER et al. 2010. Ethical issues related to the access to orphan drugs in brazil: the case of mucopolysaccharidosis type i. Journal of medical ethics. 37, 233-239.
  35. Health Sciences Genetics (clinical)
    V L LAGRANHA; Osvaldo ARTIGALÁS; M L Saraiva PEREIRA; Maira Graeff BURIN; Charles LOURENÇO et al. 2010. Clinical and biochemical study of 29 brazilian patients with metachromatic leukodystrophy. Journal of inherited metabolic disease. 1, 2-2.
  36. Life Sciences Neurology
    Rim P H A; Eugenio Santana De FIGUEIREDO; Fabio Endo HIRATA; Carlos Eduardo STEINER; Antonia Paula Marques De FARIA. 2009. Ocular findings in brazilian identical twins with cohen syndrome: case report. Arquivos brasileiros de oftalmologia (impresso). 72, 815-818.
  37. Health Sciences Genetics (clinical)
    Taiane VIEIRA; Ida SCHWARTZ; Verônica MUÑOZ; Louise Lapagesse PINTO; Carlos Eduardo STEINER et al. 2008. Mucopolysaccharidoses in brazil: what happens from birth to biochemical diagnosis?. American journal of medical genetics. 146, 1741-1747.
  38. Life Sciences Genetics
    B; M; S; DELATYCKI; et al. 2008. No mutation in genes of the wnt signaling pathway in patients with zimmermann-laband syndrome. Clinical dysmorphology. 17, 181-185.
  39. Life Sciences Neurology
    Leonardo BONILHA; Fernando CENDES; Rorden C; Eckert M; Dalgalarrondo PAULO et al. 2008. Gray and white matter imbalance--typical structural abnormality underlying classic autism?. Brain & development (tokyo). 30, 396-401.
  40. Life Sciences Genetics
    Daniel Zanetti SCHERRER; Fabiana ALEXANDRINO; Maria Letícia CINTRA; Edi Lúcia SARTORATO; Carlos Eduardo STEINER. 2008. Type ii autosomal recessive cutis laxa: report of another patient and molecular studies concerning three candidate genes. American journal of medical genetics. 146A, 2740-2745.
  41. Health Sciences Genetics (clinical)
    D WALLIS; ; Carlos Eduardo STEINER; Muenke MAXIMILIAN. 2008. Additional efnb1 mutations in craniofrontonasal syndrome. American journal of medical genetics. 146A, 2008-2012.
  42. Life Sciences Genetics
    Carlos Eduardo STEINER; ACOSTA; Marilisa Mantovani GUERREIRO; Antonia Paula Marques De FARIA. 2007. Genotype and natural history in unrelated individuals with phenylketonuria and autistic behavior. Arquivos de neuro-psiquiatria. 65, 202-205.
  43. Life Sciences Genetics
    Camila Andréa De OLIVEIRA; Fabiana ALEXANDRINO; Thalita Vitachi CHRISTIANI; Carlos Eduardo STEINER; José Luiz Rosemberis CUNHA et al. 2007. Molecular genetics study of deafness in brazil: 8-year experience. American journal of medical genetics. 143, 1574-1579.
  44. Health Sciences Medicine (miscellaneous)
    Ruy Pires De Oliveira SOBRINHO; Carlos Eduardo STEINER. 2007. What syndrome is this?. Pediatric dermatology. 24, 313-315.
  45. Life Sciences Genetics
    Mariam Patrícia AUADA; Maria Beatriz PUZZI; Maria Letícia CINTRA; Carlos Eduardo STEINER; Fabiana ALEXANDRINO et al. 2006. Sjogren-larsson syndrome in brazil is caused by a common c.1108-1g-->c splice-site mutation in the aldh3a2 gene. British journal of dermatology. Grã-Bretanha. 154, (4) 770-773.
  46. Life Sciences Genetics
    Fernanda C REIS; Fabiana ALEXANDRINO; Carlos Eduardo STEINER; Denise Yvonne Janovitz NORATO; Denise Pontes CAVALCANTI et al. 2005. Molecular findings in brazilian patients with osteogenesis imperfecta. J appl genet. Estados Unidos. 46, (1) 105-108.
  47. Life Sciences Neurology
    Carlos Eduardo STEINER; Maria Letícia CINTRA; Antonia Paula Marques De FARIA. 2005. Cutis laxa with growth and developmental delay; wrinkly skin syndrome or gerodermia osteodysplastica: report of two unrelated patients and literature review. Genetics and molecular biology. Brasil. 28, (2) 181-190.
  48. Life Sciences Genetics
    Carlos Eduardo STEINER; Marilisa Mantovani GUERREIRO; Antonia Paula Marques De FARIA; Iscia Lopes CENDES. 2005. Laboratorial diagnosis of fragile x syndrome. experience in a sample of individuals with pervasive developmental disorders. Arquivos de neuro-psiquiatria. Brasil. 63, (3) 564-570.
  49. Life Sciences Genetics
    Fabiana ALEXANDRINO; Edi Lúcia SARTORATO; Antonia Paula Marques De FARIA; Carlos Eduardo STEINER. 2005. G59s mutation in the gjb2 (connexin 26) gene in a patient with bart-pumphrey syndrome. American journal of medical genetics. Estados Unidos. 136, 282-284.
  50. Health Sciences Neurology (clinical)
    Carlos Eduardo STEINER; Marilisa Mantovani GUERREIRO; Antonia Paula Marques De FARIA. 2004. Acrocallosal syndrome and autism. J autism dev disorders. Estados Unidos. 34, 723-726.
  51. Life Sciences Genetics
    Carlos Eduardo STEINER; N EHTESHAM; K D TAYLOR; E SEBALD; R CANTOR et al. 2004. A locus for spondylocarpotarsal synostosis syndrome at chromosome 3p14. J med genet. Grã-Bretanha. 41, 266-269.
  52. Life Sciences Biochemistry, Genetics and Molecular Biology (miscellaneous)
    Deborah KRAKOW; Stephen ROBERTSON; L M KING; Timothy MORGAN; E SEBALD et al. 2004. Mutations in the gene encodig filamin b disrupt vertebral segmentation; joint formation and skeletogenesis. Nature genetics. Estados Unidos. 36, (4) 405-410.
  53. Life Sciences Neurology
    Carlos Eduardo STEINER; Marilisa Mantovani GUERREIRO; Antonia Paula Marques De FARIA. 2003. Genetic and neurologic evaluation in a sample of individuals with pervasive developmental disorders. Arquivos de neuro-psiquiatria. Brasil. 61, (2-A) 176-180.
  54. Health Sciences Neurology (clinical)
    Carlos Eduardo STEINER; Marilisa Mantovani GUERREIRO; Antonia Paula Marques De FARIA. 2003. On macrocephaly; epilepsy; autism; dysmorphic features; and mental retardation. Am j med genet. Estados Unidos. 120A, (4) 564-565.
  55. Health Sciences Medicine (miscellaneous)
    Gisele Viana De OLIVEIRA; Carlos Eduardo STEINER; Maria Letícia CINTRA; Antonia Paula Marques De FARIA. 2003. Deafness; palmoplantar hyperkeratosis; and knuckle-pads with male-to-male transmission: bart-pumphrey syndrome. Genetics and molecular biology. Brasil. 26, (2) 129-131.
  56. Life Sciences Genetics
    Eliane KOBAYASHI; Daniela FACCHIN; Carlos Eduardo STEINER; A V A LEONE; Nilma Lúcia Viguetti CAMPOS et al. 2002. Mesial temporal lobe abnormalities in a family with 15q26-qter trisomy. Archives of neurology. Estados Unidos. 59, (9) 1476-1479.
  57. Life Sciences Genetics
    Carlos Eduardo STEINER; Maria Letícia CINTRA; Antonia Paula Marques De FARIA. 2002. Ectodermal dysplasia with acanthosis nigricans (lelis syndrome). American journal of medical genetics. 113, (4) 381-384.
  58. Health Sciences Neurology (clinical)
    Carlos Eduardo STEINER; Martin TORRIANI; Denise Yvonne Janovitz NORATO; Antonia Paula Marques De FARIA. 2000. Spondylocarpotarsal synostosis with ocular findings. American journal of medical genetics (print). 91, 131-134.
  59. Health Sciences Psychiatry and Mental Health
    Carlos Eduardo STEINER; Antonia Paula MARQUES. 2000. Growth deficiency; mental retardation and unusual facies. Clinical dysmorphology. 9, (2) 155-156.
  60. Health Sciences Medicine (miscellaneous)
    Carlos Eduardo STEINER; Marilisa Mantovani GUERREIRO; Antonia Paula Marques De FARIA. 2000. Differential diagnosis of autism: the importance of medical evaluation to genetic counseling. The nadd bulletin. Estados Unidos. 3, (3) 48-53.
  61. Health Sciences Medicine (miscellaneous)
    Carlos Eduardo STEINER. 1999. Genetic and neurologic aspects of autism- proposal of an interdisciplinary approach in the diagnostic evaluation of autism and related disorders. Genetics and molecular biology. Brasil. 22, (3) 457-.
  62. Health Sciences Medicine (miscellaneous)
    Carlos Eduardo STEINER. 1999. Genetic and neurologic aspects of autism: proposal of an interdisciplinary approach in the diagnostic evaluation of autism and related disorders. Genetics and molecular biology (impresso). 22, 457-457.
  63. Social Sciences & Humanities Psychology (miscellaneous)
    Carlos Eduardo STEINER; Marilisa Mantovani GUERREIRO; Antonia Paula Marques De FARIA. 1998. Autismo: um diagnóstico também do pediatra. Pediatria moderna. Brasil. 35, 279-286.
  64. Life Sciences Genetics
    Iscia Lopes CENDES; Hélio G A TEIVE; M E CALCAGNOTTO; J C COSTA; F CARDOSO et al. 1997. Frequency of the different mutations causing spinocerebellar ataxia (sca1; sca2; sca3/mjd and drpla) in a large group of brazilian patients. Arquivos brasileiros de neuropsiquiatria. Brasil. 55, (3B) 519-529.
  65. Life Sciences Genetics
    Iscia Lopes CENDES; Carlos Eduardo STEINER; Isabel SILVEIRA; Walter Pinto JÚNIOR; Jaime Antunes MACIEL et al. 1996. Clinical and molecular characteristics of a brazilian family with spinocerebellar ataxia type 1 (sca1). Arquivos brasileiros de neuropsiquiatria. Brasil. 54, (3) 412-418.
  66. Life Sciences Neurology
    Isabel SILVEIRA; Iscia Lopes CENDES; S KISH; P MACIEL; Claudia GASPAR et al. 1996. Frequency of spinocerebellar ataxia type 1; dentatorubropallidoluysian atrophy and machado-joseph disease mutations in a large group of spinocerebellar ataxia patients. Neurology (cleveland; ohio). Estados Unidos. 46, (1) 214-218.
  1. Social Sciences & Humanities History
    Carlos Eduardo STEINER. 2020. Início da colônia são pedro de alcântara no contexto histórico. In: 1829 - são pedro de alcântara: páginas de sua história. Brasil.
  2. Social Sciences & Humanities History
    Carlos Eduardo STEINER. 2020. O censo geral de 1830 da colônia são pedro de alcântara. In: 1829 - são pedro de alcântara: páginas de sua história. Brasil.
  3. Social Sciences & Humanities History
    Carlos Eduardo STEINER; Dieter LOYO. 2020. Origem das famílias pioneiras na colônia são pedro de alcântara. In: 1829 - são pedro de alcântara: páginas de sua história. Brasil.
  4. Health Sciences Neurology (clinical)
    Carlos Eduardo STEINER; Giffoni S D A; Moura Ribeiro M V L. 2009. Doenças neurometabólicas. In: Condutas em neurologia infantil. Brasil.
  5. Health Sciences Medicine (miscellaneous)
    Carlos Eduardo STEINER; Daniela Faroro GIOVANNETTI; Márcia Regina BANIN; Renata Bernardes De OLIVEIRA. 2006. Galactosemia. In: Protocolo brasileiro de dietas: erros inatos do metabolismo. Brasil.
    Não foram identificados no Currículo Lattes livros publicados.