Evaluation of SHOX defects in the era of next-generation sequencing (2019)
- Authors:
- USP affiliated authors: MENDONÇA, BERENICE BILHARINHO DE - FM ; JORGE, ALEXANDER AUGUSTO DE LIMA - FM
- Unidade: FM
- DOI: 10.1111/cge.13587
- Subjects: GENES HOMEOBOX; MUTAÇÃO; INSUFICIÊNCIA DE CRESCIMENTO; GENÔMICA; SEQUENCIAMENTO GENÉTICO
- Agências de fomento:
- Language: Inglês
- Imprenta:
- Source:
- Título do periódico: Clinical genetics
- ISSN: 0009-9163
- Volume/Número/Paginação/Ano: v. 96, n. 3, p. 261-265, 2019
- Este periódico é de assinatura
- Este artigo NÃO é de acesso aberto
- Cor do Acesso Aberto: closed
-
ABNT
FUNARI, Mariana F. A et al. Evaluation of SHOX defects in the era of next-generation sequencing. Clinical genetics, v. 96, n. 3, p. 261-265, 2019Tradução . . Disponível em: https://doi.org/10.1111/cge.13587. Acesso em: 23 abr. 2024. -
APA
Funari, M. F. A., Barros, J. S. de, Santana, L. S., Lerario, A. M., Freire, B. L., Homma, T. K., et al. (2019). Evaluation of SHOX defects in the era of next-generation sequencing. Clinical genetics, 96( 3), 261-265. doi:10.1111/cge.13587 -
NLM
Funari MFA, Barros JS de, Santana LS, Lerario AM, Freire BL, Homma TK, Vasques GA, Mendonça BB de, Nishi MY, Jorge AA de L. Evaluation of SHOX defects in the era of next-generation sequencing [Internet]. Clinical genetics. 2019 ; 96( 3): 261-265.[citado 2024 abr. 23 ] Available from: https://doi.org/10.1111/cge.13587 -
Vancouver
Funari MFA, Barros JS de, Santana LS, Lerario AM, Freire BL, Homma TK, Vasques GA, Mendonça BB de, Nishi MY, Jorge AA de L. Evaluation of SHOX defects in the era of next-generation sequencing [Internet]. Clinical genetics. 2019 ; 96( 3): 261-265.[citado 2024 abr. 23 ] Available from: https://doi.org/10.1111/cge.13587 - 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
- 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)
Informações sobre o DOI: 10.1111/cge.13587 (Fonte: oaDOI API)
How to cite
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas