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: Clinical genetics
- ISSN: 0009-9163
- Volume/Número/Paginação/Ano: v. 96, n. 3, p. 261-265, 2019
- Este periódico é de acesso aberto
- Este artigo NÃO é de acesso aberto
-
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: 12 fev. 2026. -
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 2026 fev. 12 ] 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 2026 fev. 12 ] Available from: https://doi.org/10.1111/cge.13587 - Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes
- Baixa estatura desproporcional por mutações no gene SHOX
- Novel Mutations (p.G6R and p.R511W) in IGF1R Gene in Children Born Small for Gestational Age (SGA) Without Catch-up Growth
- Growth Hormone (GH) Pharmacogenetics: Positive Influence of GH Receptor (GHR) Exon 3 Deleted Allele (d3) on First-year Growth Velocity and Final Height in Patients with Turner Syndrome (TS) Treated with Recombinant Human GH (rhGH)
- Autosomal recessive (type I) is more frequent than autosomal dominant (type II) isolated growth hormone deficiencyin acohort of Brazilian patients
- The Sitting Height/Height Ratio for Age in Healthy and Short Individuals and Its Potential Role in Selecting Short Children for SHOX Analysis
- ESR1 polymorphism (rs2234693) influences femoral bone mass in patients with Turner syndrome
- Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations
- Association Study of GWAS-Derived Loci with Height in Brazilian Children: Importance of MAP3K3, MMP24 and IGF1R Polymorphisms for Height Variation
- Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in GLI2, OTX2 and GHRHR
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
