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 do periódico: 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: 16 abr. 2024. , 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 2024 abr. 16 ] 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 2024 abr. 16 ] 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
- 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
Informações sobre o DOI: 10.1159/000353762 (Fonte: oaDOI API)
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