Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil (2022)
- Authors:
- USP affiliated authors: KREPISCHI, ANA CRISTINA VICTORINO - IB ; COSTA, SILVIA SOUZA DA - IB ; BERTOLA, DÉBORA ROMEO - IB ; MORGANTE, ANGELA MARIA VIANNA - IB ; ROSENBERG, CARLA - IB ; PEARSON, PETER LEES - IB
- Unidade: IB
- DOI: 10.1038/s41598-022-19274-6
- Subjects: DOENÇAS CONGÊNITAS; CROMOSSOMOS; GENÉTICA; ACONSELHAMENTO GENÉTICO
- Agências de fomento:
- Language: Inglês
- Imprenta:
- Source:
- Título: Scientific Reports
- ISSN: 2045-2322
- Volume/Número/Paginação/Ano: v. 12, art. 15184, 2022
- Este periódico é de acesso aberto
- Este artigo é de acesso aberto
- URL de acesso aberto
- Cor do Acesso Aberto: gold
- Licença: cc-by
-
ABNT
KREPISCHI, Ana Cristina Victorino et al. Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil. Scientific Reports, v. 12, 2022Tradução . . Disponível em: https://doi.org/10.1038/s41598-022-19274-6. Acesso em: 04 jan. 2025. -
APA
Krepischi, A. C. V., Villela, D., Costa, S. S. da, Bertola, D. R., Vianna-Morgante, A. M., Pearson, P. L., & Rosenberg, C. (2022). Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil. Scientific Reports, 12. doi:10.1038/s41598-022-19274-6 -
NLM
Krepischi ACV, Villela D, Costa SS da, Bertola DR, Vianna-Morgante AM, Pearson PL, Rosenberg C. Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil [Internet]. Scientific Reports. 2022 ; 12[citado 2025 jan. 04 ] Available from: https://doi.org/10.1038/s41598-022-19274-6 -
Vancouver
Krepischi ACV, Villela D, Costa SS da, Bertola DR, Vianna-Morgante AM, Pearson PL, Rosenberg C. Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil [Internet]. Scientific Reports. 2022 ; 12[citado 2025 jan. 04 ] Available from: https://doi.org/10.1038/s41598-022-19274-6 - Efficient detection of chromosome imbalances and single nucleotide variants using targeted sequencing in the clinical setting
- 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
- 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
- X-chromosome microimbalances in boys with intellectual disability and maternal completely skewed X-inactivation
- Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver–Russell syndrome
- Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses
- Germline copy number variations and cancer predisposition
- Chromoanagenesis event underlies a de novo pericentric and multiple paracentric inversions in a single chromosome causing Coffin-Siris Syndrome
Informações sobre o DOI: 10.1038/s41598-022-19274-6 (Fonte: oaDOI API)
How to cite
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
