Novel Mutations (p.G6R and p.R511W) in IGF1R Gene in Children Born Small for Gestational Age (SGA) Without Catch-up Growth (2010)
- Authors:
- USP affiliated authors: MENDONÇA, BERENICE BILHARINHO DE - FM ; JORGE, ALEXANDER AUGUSTO DE LIMA - FM
- Unidade: FM
- Subjects: MUTAÇÃO GENÉTICA; HORMÔNIO DE CRESCIMENTO; CRIANÇAS; GENES (ANÁLISE); FATORES DE CRESCIMENTO
- Language: Inglês
- Imprenta:
- Source:
- Título do periódico: Hormone Research in Paediatrics
- ISSN: 1663-2818
- Volume/Número/Paginação/Ano: v. 74, n. suppl. 1, p. 2, res. 5, 2010
- Conference titles: Annual meeting of the Sociedad Latino-Americana de Endocrinología Pediátrica (SLEP)
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ABNT
COUTINHO, D. C. et al. Novel Mutations (p.G6R and p.R511W) in IGF1R Gene in Children Born Small for Gestational Age (SGA) Without Catch-up Growth. Hormone Research in Paediatrics. Basel: Faculdade de Medicina, Universidade de São Paulo. Disponível em: http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowPDF&ArtikelNr=320138&Ausgabe=254526&ProduktNr=224036&filename=320138.pdf. Acesso em: 23 abr. 2024. , 2010 -
APA
Coutinho, D. C., Leal, A. C., Ribeiro, L. M., Mendonça, B. B., Arnhold, I. J. P., & Jorge, A. A. L. (2010). Novel Mutations (p.G6R and p.R511W) in IGF1R Gene in Children Born Small for Gestational Age (SGA) Without Catch-up Growth. Hormone Research in Paediatrics. Basel: Faculdade de Medicina, Universidade de São Paulo. Recuperado de http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowPDF&ArtikelNr=320138&Ausgabe=254526&ProduktNr=224036&filename=320138.pdf -
NLM
Coutinho DC, Leal AC, Ribeiro LM, Mendonça BB, Arnhold IJP, Jorge AAL. Novel Mutations (p.G6R and p.R511W) in IGF1R Gene in Children Born Small for Gestational Age (SGA) Without Catch-up Growth [Internet]. Hormone Research in Paediatrics. 2010 ; 74( suppl. 1): 2.[citado 2024 abr. 23 ] Available from: http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowPDF&ArtikelNr=320138&Ausgabe=254526&ProduktNr=224036&filename=320138.pdf -
Vancouver
Coutinho DC, Leal AC, Ribeiro LM, Mendonça BB, Arnhold IJP, Jorge AAL. Novel Mutations (p.G6R and p.R511W) in IGF1R Gene in Children Born Small for Gestational Age (SGA) Without Catch-up Growth [Internet]. Hormone Research in Paediatrics. 2010 ; 74( suppl. 1): 2.[citado 2024 abr. 23 ] Available from: http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowPDF&ArtikelNr=320138&Ausgabe=254526&ProduktNr=224036&filename=320138.pdf - Investigação genética
- Considerable frequency of novel GLI2 missense witations in patientes with hypopituitarism without holoprosencephaly
- 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
- Exome sequencing reveals the POLR3H gene as a novel cause of primary ovarian insufficiency
- GH-Releasing hormone receptor gene: a novel splice-disrupting mutation and study of founder effects
- The sitting heigh/height ratio for age is a simple and useful tool to select children with idiopathic short stature for SHOX studies
- IGF-1 assessed by pubertal status has the best positive predictive power for GH deficiency diagnosis in peripubertal children
- High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency
- Usefulness of MLPA in the detection of SHOX deletions
- Analyses of the GLI2 Gene in Patients with Congenital Isolated GH Deficiency (IGHD) or Associated to Other Pituitary Hormone Deficiencies (CPHD) Without Holoprosencephaly (HPE)
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