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: 21 maio 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 maio 21 ] 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 maio 21 ] 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
- 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)
- The Effect of Transdermic Dihydrotestosterone Gel Treatment on Penile Size: Experience with Fifteen Patients
- Relatively high frequency of non-synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly
- Role of GLI2 in hypopituitarism phenotype
Informações sobre o DOI: 10.1159/000353762 (Fonte: oaDOI API)
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