Absence of GH-Releasing Hormone (GHRH) Mutations in Selected Patients with Isolated GH Deficiency (2011)
- Authors:
- USP affiliated authors: JORGE, ALEXANDER AUGUSTO DE LIMA - FM ; MENDONÇA, BERENICE BILHARINHO DE - FM
- Unidade: FM
- DOI: 10.1210/jc.2011-0170
- Subjects: MUTAÇÃO GENÉTICA; POLIMORFISMO; HORMÔNIO DO CRESCIMENTO (DEFICIÊNCIA); FENÓTIPOS; ELETROFORESE; SEGUIMENTO GENÉTICO
- Language: Inglês
- Imprenta:
- Publisher place: Philadelphia
- Date published: 2011
- Source:
- Título do periódico: Journal of Clinical Endocrinology and Metabolism
- ISSN: 0021-972X
- Volume/Número/Paginação/Ano: v. 96, n. 9, p. E1457-1460, 2011
- Este periódico é de assinatura
- Este artigo é de acesso aberto
- URL de acesso aberto
- Cor do Acesso Aberto: bronze
-
ABNT
FRANÇA, Marcela M. et al. Absence of GH-Releasing Hormone (GHRH) Mutations in Selected Patients with Isolated GH Deficiency. Journal of Clinical Endocrinology and Metabolism, v. 96, n. 9, p. E1457-1460, 2011Tradução . . Disponível em: https://doi.org/10.1210/jc.2011-0170. Acesso em: 17 abr. 2024. -
APA
França, M. M., Jorge, A. A. L., Alatzoglou, K. S., Carvalho, L. R. S., Mendonça, B. B., Audi, L., et al. (2011). Absence of GH-Releasing Hormone (GHRH) Mutations in Selected Patients with Isolated GH Deficiency. Journal of Clinical Endocrinology and Metabolism, 96( 9), E1457-1460. doi:10.1210/jc.2011-0170 -
NLM
França MM, Jorge AAL, Alatzoglou KS, Carvalho LRS, Mendonça BB, Audi L, Carrascosa A, Dattani MT, Arnhold IJP. Absence of GH-Releasing Hormone (GHRH) Mutations in Selected Patients with Isolated GH Deficiency [Internet]. Journal of Clinical Endocrinology and Metabolism. 2011 ; 96( 9): E1457-1460.[citado 2024 abr. 17 ] Available from: https://doi.org/10.1210/jc.2011-0170 -
Vancouver
França MM, Jorge AAL, Alatzoglou KS, Carvalho LRS, Mendonça BB, Audi L, Carrascosa A, Dattani MT, Arnhold IJP. Absence of GH-Releasing Hormone (GHRH) Mutations in Selected Patients with Isolated GH Deficiency [Internet]. Journal of Clinical Endocrinology and Metabolism. 2011 ; 96( 9): E1457-1460.[citado 2024 abr. 17 ] Available from: https://doi.org/10.1210/jc.2011-0170 - 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: 10.1210/jc.2011-0170 (Fonte: oaDOI API)
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