Copy number variants in Brazilian patients with congenital hypopituirarism (2013)
- Authors:
- USP affiliated authors: MENDONÇA, BERENICE BILHARINHO DE - FM ; ROSENBERG, CARLA - IB ; JORGE, ALEXANDER AUGUSTO DE LIMA - FM
- Unidades: FM; IB
- DOI: 10.1159/000353762
- Subjects: GLÂNDULA PITUITÁRIA; ENDOCRINOPATIAS
- Language: Inglês
- Imprenta:
- Source:
- Título: Hormone Research in Paediatrics
- ISSN: 1663-2818
- Volume/Número/Paginação/Ano: v. 80, suppl. 1, p. 161, res. P1-d1-506, 2013
- Conference titles: European Society for Paediatric Endocrinology (ESPE)/ Joint Meeting
- Este periódico é de assinatura
- Este artigo NÃO é de acesso aberto
- Cor do Acesso Aberto: closed
-
ABNT
CORREA, Fernanda A. et al. Copy number variants in Brazilian patients with congenital hypopituirarism. Hormone Research in Paediatrics. Basel: Faculdade de Medicina, Universidade de São Paulo. Disponível em: https://doi.org/10.1159/000353762. Acesso em: 30 dez. 2025. , 2013 -
APA
Correa, F. A., Franca, M. M., Canton, A. P. M., Otto, A. p., Costalonga, E. F., Brito, V. N., et al. (2013). Copy number variants in Brazilian patients with congenital hypopituirarism. Hormone Research in Paediatrics. Basel: Faculdade de Medicina, Universidade de São Paulo. doi:10.1159/000353762 -
NLM
Correa FA, Franca MM, Canton APM, Otto A p., Costalonga EF, Brito VN, Carvalho LR, Costa S, Arnhold IJP, Jorge AA de L, Rosenberg C, Mendonça BB de. Copy number variants in Brazilian patients with congenital hypopituirarism [Internet]. Hormone Research in Paediatrics. 2013 ; 80 161.[citado 2025 dez. 30 ] Available from: https://doi.org/10.1159/000353762 -
Vancouver
Correa FA, Franca MM, Canton APM, Otto A p., Costalonga EF, Brito VN, Carvalho LR, Costa S, Arnhold IJP, Jorge AA de L, Rosenberg C, Mendonça BB de. Copy number variants in Brazilian patients with congenital hypopituirarism [Internet]. Hormone Research in Paediatrics. 2013 ; 80 161.[citado 2025 dez. 30 ] Available from: https://doi.org/10.1159/000353762 - Evaluation of submicroscopic chromosomal deletions and duplications in dysmorphic patients born small for gestational age
- 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
- Rare causes and differential diagnosis in patients with Silver-Russell Syndrome
- Molecular analysis of brazilian patients with combined pituitary hormone deficiency (CPHD) and orthotopic posterior pituitary lobe (OPP) reveals 8 different PROP1 alterations with three novel mutations
- Novel Mutations in the Growth Hormone Secretagogue Receptor Gene (GHSR) Associated with Constitutional Delay in Growth and Puberty (CDGP)
- Baixa estatura desproporcional por mutações no gene SHOX
- Evaluation of SHOX defects in the era of next-generation sequencing
Informações sobre o DOI: 10.1159/000353762 (Fonte: oaDOI API)
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