Burden of rare copy number variants in microcephaly: a Brazilian cohort of 185 microcephalic patients and review of the literature (2022)
- Authors:
- Tolezano, Giovanna Cantini
- Bastos, Giovanna Civitate
- Costa, Silvia Souza da
- Freire, Bruna Lucheze
- Homma, Thais Kataoka
- Honjo, Rachel Sayuri
- Yamamoto, Guilherme Lopes
- Passos-Bueno, Maria Rita
- Koiffmann, Celia Priszkulnik
- Kim, Chong Ae
- Vianna-Morgante, Angela M
- Jorge, Alexander Augusto de Lima
- Bertola, Débora Romeo
- Rosenberg, Carla
- Krepischi, Ana Cristina Victorino
- USP affiliated authors: COSTA, SILVIA SOUZA DA - IB ; BUENO, MARIA RITA DOS SANTOS E PASSOS - IB ; KOIFFMANN, CELIA PRISZKULNIK - IB ; KIM, CHONG AE - FM ; MORGANTE, ANGELA MARIA VIANNA - IB ; JORGE, ALEXANDER AUGUSTO DE LIMA - FM ; BERTOLA, DÉBORA ROMEO - IB ; ROSENBERG, CARLA - IB ; KREPISCHI, ANA CRISTINA VICTORINO - IB ; TOLEZANO, GIOVANNA CANTINI - IB ; FREIRE, BRUNA LUCHEZE - FM ; HOMMA, THAÍS KATAOKA - FM ; KAWAHIRA, RACHEL SAYURI HONJO - FM ; YAMAMOTO, GUILHERME LOPES - FM
- Unidades: IB; FM
- DOI: 10.1007/s10803-022-05853-z
- Subjects: MICROCEFALIA; REVISÃO SISTEMÁTICA
- Agências de fomento:
- Language: Inglês
- Imprenta:
- Source:
- Título do periódico: Journal of Autism and Developmental Disorders
- ISSN: 1573-3432
- Volume/Número/Paginação/Ano: on-line, 2022
- Este periódico é de assinatura
- Este artigo NÃO é de acesso aberto
- Cor do Acesso Aberto: closed
-
ABNT
TOLEZANO, Giovanna Cantini et al. Burden of rare copy number variants in microcephaly: a Brazilian cohort of 185 microcephalic patients and review of the literature. Journal of Autism and Developmental Disorders, 2022Tradução . . Disponível em: https://doi.org/10.1007/s10803-022-05853-z. Acesso em: 28 abr. 2024. -
APA
Tolezano, G. C., Bastos, G. C., Costa, S. S. da, Freire, B. L., Homma, T. K., Honjo, R. S., et al. (2022). Burden of rare copy number variants in microcephaly: a Brazilian cohort of 185 microcephalic patients and review of the literature. Journal of Autism and Developmental Disorders. doi:10.1007/s10803-022-05853-z -
NLM
Tolezano GC, Bastos GC, Costa SS da, Freire BL, Homma TK, Honjo RS, Yamamoto GL, Passos-Bueno MR, Koiffmann CP, Kim CA, Vianna-Morgante AM, Jorge AA de L, Bertola DR, Rosenberg C, Krepischi ACV. Burden of rare copy number variants in microcephaly: a Brazilian cohort of 185 microcephalic patients and review of the literature [Internet]. Journal of Autism and Developmental Disorders. 2022 ;[citado 2024 abr. 28 ] Available from: https://doi.org/10.1007/s10803-022-05853-z -
Vancouver
Tolezano GC, Bastos GC, Costa SS da, Freire BL, Homma TK, Honjo RS, Yamamoto GL, Passos-Bueno MR, Koiffmann CP, Kim CA, Vianna-Morgante AM, Jorge AA de L, Bertola DR, Rosenberg C, Krepischi ACV. Burden of rare copy number variants in microcephaly: a Brazilian cohort of 185 microcephalic patients and review of the literature [Internet]. Journal of Autism and Developmental Disorders. 2022 ;[citado 2024 abr. 28 ] Available from: https://doi.org/10.1007/s10803-022-05853-z - Clinical characterization and underlying genetic findings in brazilian patients with syndromic microcephaly associated with neurodevelopmental disorders
- Genome-wide screening of copy number variants in children born small for gestational age reveals several candidate genes involved in growth pathways
- Efficient detection of chromosome imbalances and single nucleotide variants using targeted sequencing in the clinical setting
- Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil
- Does increase in genomic microarray resolution result in increased diagnostic yield?
- The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: broadening the clinical phenotype
- Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases
- KIF11 microdeletion is associated with microcephaly, chorioretinopathy and intellectual disability
- Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause
- Phenotype-genotype analysis of 242 individuals with RASopathies: 18-year experience of a tertiary center in Brazil
Informações sobre o DOI: 10.1007/s10803-022-05853-z (Fonte: oaDOI API)
How to cite
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
