GH-Releasing hormone receptor gene: a novel splice-disrupting mutation and study of founder effects (2012)
- Authors:
- USP affiliated authors: MENDONÇA, BERENICE BILHARINHO DE - FM ; JORGE, ALEXANDER AUGUSTO DE LIMA - FM
- Unidade: FM
- DOI: 10.1159/000342760
- Subjects: MUTAÇÃO GENÉTICA; GENES (ANÁLISE); HORMÔNIO DO CRESCIMENTO (DEFICIÊNCIA); DNA (ANÁLISE); AMPLIFICAÇÃO DE GENES; RECEPTORES HORMONAIS
- Language: Inglês
- Imprenta:
- Source:
- Título: Hormone research in paediatrics
- ISSN: 0301-0163
- Volume/Número/Paginação/Ano: v.78, n. 3, p. 165-172, 2012
- Status:
- Artigo possui versão em acesso aberto em repositório (Green Open Access)
- Versão do Documento:
- Versão submetida (Pré-print)
- Acessar versão aberta:
-
ABNT
MARUI, Suemi et al. GH-Releasing hormone receptor gene: a novel splice-disrupting mutation and study of founder effects. Hormone research in paediatrics, v. 78, n. 3, p. 165-172, 2012Tradução . . Disponível em: https://doi.org/10.1159/000342760. Acesso em: 19 mar. 2026. -
APA
Marui, S., Trabach, E. b., Boguszewski, M. C. S., França, M. M., Jorge, A. A. L., Inoue, H., et al. (2012). GH-Releasing hormone receptor gene: a novel splice-disrupting mutation and study of founder effects. Hormone research in paediatrics, 78( 3), 165-172. doi:10.1159/000342760 -
NLM
Marui S, Trabach E b., Boguszewski MCS, França MM, Jorge AAL, Inoue H, Nishi MY, Lacerda Filho L de, Aguiar-Oliveira MH, Mendonça BB, Arnhold IJP. GH-Releasing hormone receptor gene: a novel splice-disrupting mutation and study of founder effects [Internet]. Hormone research in paediatrics. 2012 ;78( 3): 165-172.[citado 2026 mar. 19 ] Available from: https://doi.org/10.1159/000342760 -
Vancouver
Marui S, Trabach E b., Boguszewski MCS, França MM, Jorge AAL, Inoue H, Nishi MY, Lacerda Filho L de, Aguiar-Oliveira MH, Mendonça BB, Arnhold IJP. GH-Releasing hormone receptor gene: a novel splice-disrupting mutation and study of founder effects [Internet]. Hormone research in paediatrics. 2012 ;78( 3): 165-172.[citado 2026 mar. 19 ] Available from: https://doi.org/10.1159/000342760 - Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes
- Baixa estatura desproporcional por mutações no gene SHOX
- Novel Mutations (p.G6R and p.R511W) in IGF1R Gene in Children Born Small for Gestational Age (SGA) Without Catch-up Growth
- Growth Hormone (GH) Pharmacogenetics: Positive Influence of GH Receptor (GHR) Exon 3 Deleted Allele (d3) on First-year Growth Velocity and Final Height in Patients with Turner Syndrome (TS) Treated with Recombinant Human GH (rhGH)
- Autosomal recessive (type I) is more frequent than autosomal dominant (type II) isolated growth hormone deficiencyin acohort of Brazilian patients
- The Sitting Height/Height Ratio for Age in Healthy and Short Individuals and Its Potential Role in Selecting Short Children for SHOX Analysis
- ESR1 polymorphism (rs2234693) influences femoral bone mass in patients with Turner syndrome
- Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations
- Evaluation of SHOX defects in the era of next-generation sequencing
- Association Study of GWAS-Derived Loci with Height in Brazilian Children: Importance of MAP3K3, MMP24 and IGF1R Polymorphisms for Height Variation
Informações sobre a disponibilidade de versões do artigo em acesso aberto coletadas automaticamente via oaDOI API (Unpaywall).
Por se tratar de integração com serviço externo, podem existir diferentes versões do trabalho (como preprints ou postprints), que podem diferir da versão publicada.
How to cite
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas