Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause (2018)
- Authors:
- USP affiliated authors: KREPISCHI, ANA CRISTINA VICTORINO - IB ; FURUYA, TATIANE KATSUE - FM ; BERTOLA, DÉBORA ROMEO - IB ; COSTA, SILVIA SOUZA DA - IB ; ROELA, ROSIMEIRE APARECIDA - FM ; KIM, CHONG AE - FM ; ROSENBERG, CARLA - IB ; JORGE, ALEXANDER AUGUSTO DE LIMA - FM
- Unidades: IB; FM
- DOI: 10.1159/000481777
- Subjects: GENÉTICA; TRANSTORNOS DO CRESCIMENTO; DESENVOLVIMENTO HUMANO; ESTATURA; CROMOSSOMOS; ENDOCRINOLOGIA
- Keywords: Short stature; Chromosomal microarray; Copy number variants; Recurrent copy number variants; Array-based comparative genomic hybridization; Single nucleotide polymorphism array
- Language: Inglês
- Imprenta:
- Source:
- Título do periódico: Hormone Research in Paediatrics
- ISSN: 1663-2826
- Volume/Número/Paginação/Ano: v. 89, p. 13-21, 2018
- Este periódico é de assinatura
- Este artigo é de acesso aberto
- URL de acesso aberto
- Cor do Acesso Aberto: bronze
-
ABNT
HOMMA, Thais K et al. Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause. Hormone Research in Paediatrics, v. 89, p. 13-21, 2018Tradução . . Disponível em: https://doi.org/10.1159/000481777. Acesso em: 24 abr. 2024. -
APA
Homma, T. K., Krepischi, A. C. V., Furuya, T. K., Honjo, R. S., Malaquias, A. C., Bertola, D. R., et al. (2018). Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause. Hormone Research in Paediatrics, 89, 13-21. doi:10.1159/000481777 -
NLM
Homma TK, Krepischi ACV, Furuya TK, Honjo RS, Malaquias AC, Bertola DR, Costa SS, Canton AP, Roela RA, Freire BL, Kim CA, Rosenberg C, Jorge AAL. Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause [Internet]. Hormone Research in Paediatrics. 2018 ; 89 13-21.[citado 2024 abr. 24 ] Available from: https://doi.org/10.1159/000481777 -
Vancouver
Homma TK, Krepischi ACV, Furuya TK, Honjo RS, Malaquias AC, Bertola DR, Costa SS, Canton AP, Roela RA, Freire BL, Kim CA, Rosenberg C, Jorge AAL. Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause [Internet]. Hormone Research in Paediatrics. 2018 ; 89 13-21.[citado 2024 abr. 24 ] Available from: https://doi.org/10.1159/000481777 - Genome-wide screening of copy number variants in children born small for gestational age reveals several candidate genes involved in growth pathways
- Does increase in genomic microarray resolution result in increased diagnostic yield?
- Molecular and cellular basis of hyperassembly and protein aggregation driven by a rare pathogenic mutation in DDX3X
- Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes
- A comprehensive review of syndromic forms of obesity: genetic etiology, clinical features and molecular diagnosis
- Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil
- Chromoanagenesis event underlies a de novo pericentric and multiple paracentric inversions in a single chromosome causing Coffin-Siris Syndrome
- KIF11 microdeletion is associated with microcephaly, chorioretinopathy and intellectual disability
- Clinical description of 41 Brazilian patients with oculo-auriculo-vertebral dysplasia
- Displasias esqueléticas
Informações sobre o DOI: 10.1159/000481777 (Fonte: oaDOI API)
How to cite
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas