Autosomal recessive form of isolated growth hormone deficiency is more frequent than the autosomal dominant form in a Brazilian cohort (2014)
- Authors:
- USP affiliated authors: MENDONÇA, BERENICE BILHARINHO DE - FM ; JORGE, ALEXANDER AUGUSTO DE LIMA - FM
- Unidade: FM
- DOI: 10.1016/j.ghir.2014.07.001
- Subjects: HORMÔNIO DO CRESCIMENTO (ANORMALIDADES); GENES RECESSIVOS; ESTUDOS DE COORTES; BRASILEIROS; MUTAÇÃO GENÉTICA; BIOMETRIA
- Language: Inglês
- Imprenta:
- Source:
- Título: Growth Hormone and IGF Research
- ISSN: 1096-6374
- Volume/Número/Paginação/Ano: v. 24, n. 5, p. 180-186, 2014
- Este periódico é de assinatura
- Este artigo NÃO é de acesso aberto
- Cor do Acesso Aberto: closed
-
ABNT
LIDO, Andria C. V. et al. Autosomal recessive form of isolated growth hormone deficiency is more frequent than the autosomal dominant form in a Brazilian cohort. Growth Hormone and IGF Research, v. 24, n. 5, p. 180-186, 2014Tradução . . Disponível em: https://doi.org/10.1016/j.ghir.2014.07.001. Acesso em: 03 jan. 2026. -
APA
Lido, A. C. V., França, M. M., Correa, F. A., Otto, A. P., Carvalho, L. R., Quedas, E. P. S., et al. (2014). Autosomal recessive form of isolated growth hormone deficiency is more frequent than the autosomal dominant form in a Brazilian cohort. Growth Hormone and IGF Research, 24( 5), 180-186. doi:10.1016/j.ghir.2014.07.001 -
NLM
Lido ACV, França MM, Correa FA, Otto AP, Carvalho LR, Quedas EPS, Nishi MY, Mendonça BB, Arnhold IJP, Jorge AAL. Autosomal recessive form of isolated growth hormone deficiency is more frequent than the autosomal dominant form in a Brazilian cohort [Internet]. Growth Hormone and IGF Research. 2014 ; 24( 5): 180-186.[citado 2026 jan. 03 ] Available from: https://doi.org/10.1016/j.ghir.2014.07.001 -
Vancouver
Lido ACV, França MM, Correa FA, Otto AP, Carvalho LR, Quedas EPS, Nishi MY, Mendonça BB, Arnhold IJP, Jorge AAL. Autosomal recessive form of isolated growth hormone deficiency is more frequent than the autosomal dominant form in a Brazilian cohort [Internet]. Growth Hormone and IGF Research. 2014 ; 24( 5): 180-186.[citado 2026 jan. 03 ] Available from: https://doi.org/10.1016/j.ghir.2014.07.001 - 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
- GH-Releasing hormone receptor gene: a novel splice-disrupting mutation and study of founder effects
- 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
- The sitting heigh/height ratio for age is a simple and useful tool to select children with idiopathic short stature for SHOX studies
- Usefulness of MLPA in the detection of SHOX deletions
Informações sobre o DOI: 10.1016/j.ghir.2014.07.001 (Fonte: oaDOI API)
How to cite
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
