Analysis of the insulin-like growth factor 1 receptor gene in children born small for gestational age: in vitro characterization of a novel mutation (p. Arg511 Trp) (2013)
- Authors:
- USP affiliated authors: MENDONÇA, BERENICE BILHARINHO DE - FM ; JORGE, ALEXANDER AUGUSTO DE LIMA - FM
- Unidade: FM
- DOI: 10.1111/cen.12048
- Subjects: HORMÔNIO DO CRESCIMENTO (DEFICIÊNCIA); MUTAÇÃO; ESTUDOS DE COORTES; IDADE GESTACIONAL; FIBROBLASTOS
- Language: Inglês
- Imprenta:
- Source:
- Título do periódico: Clinical endocrinology
- ISSN: 0300-0664
- Volume/Número/Paginação/Ano: v. 78, n. 4, p. 558-563, 2013
- Este periódico é de assinatura
- Este artigo NÃO é de acesso aberto
- Cor do Acesso Aberto: closed
-
ABNT
LEAL, Andrea C. et al. Analysis of the insulin-like growth factor 1 receptor gene in children born small for gestational age: in vitro characterization of a novel mutation (p. Arg511 Trp). Clinical endocrinology, v. 78, n. 4, p. 558-563, 2013Tradução . . Disponível em: http://onlinelibrary.wiley.com/doi/10.1111/cen.12048/pdf. Acesso em: 24 abr. 2024. -
APA
Leal, A. C., Montenegro, L. R., Saito, R. F., Ribeiro, T. C., Coutinho, D. C., Mendonca, B. B., et al. (2013). Analysis of the insulin-like growth factor 1 receptor gene in children born small for gestational age: in vitro characterization of a novel mutation (p. Arg511 Trp). Clinical endocrinology, 78( 4), 558-563. doi:10.1111/cen.12048 -
NLM
Leal AC, Montenegro LR, Saito RF, Ribeiro TC, Coutinho DC, Mendonca BB, Arnhold IJP, Jorge AAL. Analysis of the insulin-like growth factor 1 receptor gene in children born small for gestational age: in vitro characterization of a novel mutation (p. Arg511 Trp) [Internet]. Clinical endocrinology. 2013 ; 78( 4): 558-563.[citado 2024 abr. 24 ] Available from: http://onlinelibrary.wiley.com/doi/10.1111/cen.12048/pdf -
Vancouver
Leal AC, Montenegro LR, Saito RF, Ribeiro TC, Coutinho DC, Mendonca BB, Arnhold IJP, Jorge AAL. Analysis of the insulin-like growth factor 1 receptor gene in children born small for gestational age: in vitro characterization of a novel mutation (p. Arg511 Trp) [Internet]. Clinical endocrinology. 2013 ; 78( 4): 558-563.[citado 2024 abr. 24 ] Available from: http://onlinelibrary.wiley.com/doi/10.1111/cen.12048/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)
Informações sobre o DOI: 10.1111/cen.12048 (Fonte: oaDOI API)
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