Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature (2018)
- Authors:
- Autor USP: JORGE, ALEXANDER AUGUSTO DE LIMA - FM
- Unidade: FM
- DOI: 10.1038/gim.2017.66
- Subjects: FIBROBLASTOS; MUTAÇÃO; PEPTÍDEOS; NANISMO; GENES
- Agências de fomento:
- postdoctoral CIBERER fellowship
- CIBERER Lanzadera fellowship
- Fundacion SEEP
- FPI PhD studentship from the Basque Country
- Eli Lilly from the Spanish Pediatric Endocrinology society (Fundacion SEEP)
- ISCIII from the Fondo de Investigaciones Sanitarias [PI12-/00649]
- Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
- Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
- ENDOSCREEN from the Comunidad de Madrid [S2010/BMD-2396]
- MINECO [SAF2012-30871, SAF2015-66831-R]
- Language: Inglês
- Imprenta:
- Source:
- Título: Genetics in medicine
- ISSN: 1098-3600
- Volume/Número/Paginação/Ano: v. 20, n. 1, p. 91-97, 2018
- Este periódico é de assinatura
- Este artigo é de acesso aberto
- URL de acesso aberto
- Cor do Acesso Aberto: bronze
- Licença: publisher-specific-oa
-
ABNT
HISADO-OLIVA, Alfonso et al. Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature. Genetics in medicine, v. 20, n. 1, p. 91-97, 2018Tradução . . Disponível em: http://observatorio.fm.usp.br/handle/OPI/24896. Acesso em: 11 jan. 2026. -
APA
Hisado-oliva, A., Ruzafa-Martin, A., Sentchordi, L., Funari, M. F. A., Bezanilla-Lopez, C., Alonso-Bernaldez, M., et al. (2018). Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature. Genetics in medicine, 20( 1), 91-97. doi:10.1038/gim.2017.66 -
NLM
Hisado-oliva A, Ruzafa-Martin A, Sentchordi L, Funari MFA, Bezanilla-Lopez C, Alonso-Bernaldez M, Barraza-Garcia J, Rodriguez-Zabala M, Lerario AM, Jorge AA de L. Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature [Internet]. Genetics in medicine. 2018 ; 20( 1): 91-97.[citado 2026 jan. 11 ] Available from: http://observatorio.fm.usp.br/handle/OPI/24896 -
Vancouver
Hisado-oliva A, Ruzafa-Martin A, Sentchordi L, Funari MFA, Bezanilla-Lopez C, Alonso-Bernaldez M, Barraza-Garcia J, Rodriguez-Zabala M, Lerario AM, Jorge AA de L. Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature [Internet]. Genetics in medicine. 2018 ; 20( 1): 91-97.[citado 2026 jan. 11 ] Available from: http://observatorio.fm.usp.br/handle/OPI/24896 - Influence of growth hormone receptor (GHR) exon 3 and -202A/C IGFBP-3 genetic polymorphisms on clinical and biochemical features and therapeutic outcome of patients with acromegaly
- Role of the Natriuretic Peptide System in Normal Growth and Growth Disorders
- Abordagem clínica
- Whole Exome Sequencing in the Investigation of Growth Disorders, Including Patients with Primary IGF-1 Deficiency
- A Novel Homologous Model for Gene Therapy of Dwarfism by Non-Viral Transfer of the Mouse Growth Hormone Gene into Immunocompetent Dwarf Mice
- Long-term response to growth hormone therapy in a patient with short stature caused by a novel heterozygous mutation in NPR2
- Aplicações clínicas dos testes genéticos em endocrinologia
- A novel STAT5B mutation causing GH insensitivity syndrome associated with hyperprolactinemia and immune dysfunction in two male siblings
- Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants
- Clinical and molecular analysis of pubertal control in a cohort of silver-russel and temple syndromes patients
Informações sobre o DOI: 10.1038/gim.2017.66 (Fonte: oaDOI API)
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