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Artigo de periodico
The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: broadening the clinical phenotype (2017)
Bertola, Débora; Yamamoto, Guilherme; Buscarilli, Michelle; Jorge, Alexander; Passos-Bueno, Maria Rita ; Kim, Chong Ae
Fonte: American Journal of Medical Genetics. Part A. Unidades: IB, FM
Assuntos: MUTAÇÃO GENÉTICA, FENÓTIPOS, CROMOSSOMO X, PERDA AUDITIVA, ANORMALIDADES CRANIOFACIAIS, OSSOS FACIAIS, FISSURA PALATINA, DOENÇAS GENÉTICAS
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ABNT
BERTOLA, Débora et al. The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: broadening the clinical phenotype. American Journal of Medical Genetics. Part A, v. 173, n. 3, p. 524-828, 2017Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.38070. Acesso em: 23 out. 2025.
APA
Bertola, D., Yamamoto, G., Buscarilli, M., Jorge, A., Passos-Bueno, M. R., & Kim, C. A. (2017). The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: broadening the clinical phenotype. American Journal of Medical Genetics. Part A, 173( 3), 524-828. doi:10.1002/ajmg.a.38070
NLM
Bertola D, Yamamoto G, Buscarilli M, Jorge A, Passos-Bueno MR, Kim CA. The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: broadening the clinical phenotype [Internet]. American Journal of Medical Genetics. Part A. 2017 ; 173( 3): 524-828.[citado 2025 out. 23 ] Available from: https://doi.org/10.1002/ajmg.a.38070
Vancouver
Bertola D, Yamamoto G, Buscarilli M, Jorge A, Passos-Bueno MR, Kim CA. The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: broadening the clinical phenotype [Internet]. American Journal of Medical Genetics. Part A. 2017 ; 173( 3): 524-828.[citado 2025 out. 23 ] Available from: https://doi.org/10.1002/ajmg.a.38070
Artigo de periodico
Growth Hormone Receptor Polymorphism and Growth Hormone Therapy Response in Children: A Bayesian Meta-Analysis (2012)
Renehan, Andrew G.; Solomon, Mattea; Zwahlen, Marcel; Morjaria, Reena; Whatmore, Andrew; Audí, Laura; Binder, Gerhard; Blum, Werner; Bougnères, Pierre; Dos Santos, Christine; Carrascosa, Antonio; Hokken-Koelega, Anita; Jorge, Alexander; Mullis, Primus E.; Tauber, Maïthé; Patel, Leena; Clayton, Peter E.
Fonte: American Journal of Epidemiology. Unidade: FM
Assuntos: HORMÔNIO DO CRESCIMENTO (APLICAÇÕES TERAPÊUTICAS), CRIANÇAS, TRANSTORNOS DO CRESCIMENTO, POLIMORFISMO, PROTEÍNAS DE TRANSPORTE, INFERÊNCIA BAYESIANA
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ABNT
RENEHAN, Andrew G. et al. Growth Hormone Receptor Polymorphism and Growth Hormone Therapy Response in Children: A Bayesian Meta-Analysis. American Journal of Epidemiology, v. 175, n. 9, p. 867-877, 2012Tradução . . Disponível em: https://doi.org/10.1093/aje/kwr408. Acesso em: 23 out. 2025.
APA
Renehan, A. G., Solomon, M., Zwahlen, M., Morjaria, R., Whatmore, A., Audí, L., et al. (2012). Growth Hormone Receptor Polymorphism and Growth Hormone Therapy Response in Children: A Bayesian Meta-Analysis. American Journal of Epidemiology, 175( 9), 867-877. doi:10.1093/aje/kwr408
NLM
Renehan AG, Solomon M, Zwahlen M, Morjaria R, Whatmore A, Audí L, Binder G, Blum W, Bougnères P, Dos Santos C, Carrascosa A, Hokken-Koelega A, Jorge A, Mullis PE, Tauber M, Patel L, Clayton PE. Growth Hormone Receptor Polymorphism and Growth Hormone Therapy Response in Children: A Bayesian Meta-Analysis [Internet]. American Journal of Epidemiology. 2012 ; 175( 9): 867-877.[citado 2025 out. 23 ] Available from: https://doi.org/10.1093/aje/kwr408
Vancouver
Renehan AG, Solomon M, Zwahlen M, Morjaria R, Whatmore A, Audí L, Binder G, Blum W, Bougnères P, Dos Santos C, Carrascosa A, Hokken-Koelega A, Jorge A, Mullis PE, Tauber M, Patel L, Clayton PE. Growth Hormone Receptor Polymorphism and Growth Hormone Therapy Response in Children: A Bayesian Meta-Analysis [Internet]. American Journal of Epidemiology. 2012 ; 175( 9): 867-877.[citado 2025 out. 23 ] Available from: https://doi.org/10.1093/aje/kwr408
Trabalho de evento-resumo periodico
Considerable frequency of novel GLI2 missense witations in patientes with hypopituitarism without holoprosencephaly (2011)
França, Marcela; Jorge, Alexander; Otto, Aline; Carvalho, Luciani; Mendonça, Berenice Bilharinho de; Arnhold, Ivo J. P
Nome do evento: Annual meeting of the european. Unidade: FM
Assuntos: MUTAÇÃO GENÉTICA, GENES (ANÁLISE), GLÂNDULA PITUITÁRIA (GENÉTICA;FISIOPATOLOGIA), RESUMOS (EVENTOS)
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ABNT
FRANÇA, Marcela et al. Considerable frequency of novel GLI2 missense witations in patientes with hypopituitarism without holoprosencephaly. . Basel: Faculdade de Medicina, Universidade de São Paulo. Disponível em: http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowPDF&ArtikelNr=334325&Ausgabe=255336&ProduktNr=224036&filename=334325.pdf. Acesso em: 23 out. 2025. , 2011
APA
França, M., Jorge, A., Otto, A., Carvalho, L., Mendonça, B. B. de, & Arnhold, I. J. P. (2011). Considerable frequency of novel GLI2 missense witations in patientes with hypopituitarism without holoprosencephaly. Basel: Faculdade de Medicina, Universidade de São Paulo. Recuperado de http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowPDF&ArtikelNr=334325&Ausgabe=255336&ProduktNr=224036&filename=334325.pdf
NLM
França M, Jorge A, Otto A, Carvalho L, Mendonça BB de, Arnhold IJP. Considerable frequency of novel GLI2 missense witations in patientes with hypopituitarism without holoprosencephaly [Internet]. 2011 ; 76 25.[citado 2025 out. 23 ] Available from: http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowPDF&ArtikelNr=334325&Ausgabe=255336&ProduktNr=224036&filename=334325.pdf
Vancouver
França M, Jorge A, Otto A, Carvalho L, Mendonça BB de, Arnhold IJP. Considerable frequency of novel GLI2 missense witations in patientes with hypopituitarism without holoprosencephaly [Internet]. 2011 ; 76 25.[citado 2025 out. 23 ] Available from: http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowPDF&ArtikelNr=334325&Ausgabe=255336&ProduktNr=224036&filename=334325.pdf
Trabalho de evento-resumo periodico
Homozygous mutations in the promoter region of growth hormone gene (GH1) in 3 siblings is associated with isolated growth hormone deficiency (IGHD) (2008)
Carvalho, Luciani; Jorge, Alexander; Martin, Regina M.; Franca, Marcela C.; Mendonça, Berenice B.; Costalongo, Everlayny F.; Montenegro, Luciana R.; Arnhold, Ivo J. P.
Fonte: Hormone Research. Nome do evento: European Society for Paediatric Endocrinology (ESPE). Unidade: FM
Assuntos: MUTAÇÃO GENÉTICA, HORMÔNIO DO CRESCIMENTO (ANORMALIDADES), RESUMOS (EVENTOS)
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ABNT
CARVALHO, Luciani et al. Homozygous mutations in the promoter region of growth hormone gene (GH1) in 3 siblings is associated with isolated growth hormone deficiency (IGHD). Hormone Research. Basel: Faculdade de Medicina, Universidade de São Paulo. . Acesso em: 23 out. 2025. , 2008
APA
Carvalho, L., Jorge, A., Martin, R. M., Franca, M. C., Mendonça, B. B., Costalongo, E. F., et al. (2008). Homozygous mutations in the promoter region of growth hormone gene (GH1) in 3 siblings is associated with isolated growth hormone deficiency (IGHD). Hormone Research. Basel: Faculdade de Medicina, Universidade de São Paulo.
NLM
Carvalho L, Jorge A, Martin RM, Franca MC, Mendonça BB, Costalongo EF, Montenegro LR, Arnhold IJP. Homozygous mutations in the promoter region of growth hormone gene (GH1) in 3 siblings is associated with isolated growth hormone deficiency (IGHD). Hormone Research. 2008 ; 70 20.[citado 2025 out. 23 ]
Vancouver
Carvalho L, Jorge A, Martin RM, Franca MC, Mendonça BB, Costalongo EF, Montenegro LR, Arnhold IJP. Homozygous mutations in the promoter region of growth hormone gene (GH1) in 3 siblings is associated with isolated growth hormone deficiency (IGHD). Hormone Research. 2008 ; 70 20.[citado 2025 out. 23 ]
Artigo de periodico
Influence of GH receptor exon 3 polymorphism on the IGF-I response to variable GH doses during treatment of severe GH deficiency (2007)
Marchisotti, Frederico; Jorge, Alexander; Montenegro, Luciana; Berger, Karina; Mendonça, Berenice Bilharinho de; Arnhold, Ivo
Fonte: Hormone research. Nome do evento: European society for paediatric endocrinology - ESPE. Unidade: FM
Assuntos: POLIMORFISMO, HORMÔNIO DO CRESCIMENTO (DEFICIÊNCIA; TERAPIA), PROCESSOS PATOLÓGICOS
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ABNT
MARCHISOTTI, Frederico et al. Influence of GH receptor exon 3 polymorphism on the IGF-I response to variable GH doses during treatment of severe GH deficiency. Hormone research, v. 68, p. 139, 2007Tradução . . Acesso em: 23 out. 2025.
APA
Marchisotti, F., Jorge, A., Montenegro, L., Berger, K., Mendonça, B. B. de, & Arnhold, I. (2007). Influence of GH receptor exon 3 polymorphism on the IGF-I response to variable GH doses during treatment of severe GH deficiency. Hormone research, 68, 139.
NLM
Marchisotti F, Jorge A, Montenegro L, Berger K, Mendonça BB de, Arnhold I. Influence of GH receptor exon 3 polymorphism on the IGF-I response to variable GH doses during treatment of severe GH deficiency. Hormone research. 2007 ; 68 139.[citado 2025 out. 23 ]
Vancouver
Marchisotti F, Jorge A, Montenegro L, Berger K, Mendonça BB de, Arnhold I. Influence of GH receptor exon 3 polymorphism on the IGF-I response to variable GH doses during treatment of severe GH deficiency. Hormone research. 2007 ; 68 139.[citado 2025 out. 23 ]

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