Analysis of parental origin of de novo pathogenic CNVs in patients with intellectual disability-Reference-Cited by-同舟云学术

Analysis of parental origin of de novo pathogenic CNVs in patients with intellectual disability

Published:2024 Issue:3 Volume:47 Page:
ISSN:1678-4685
Container-title:Genetics and Molecular Biology
language:
Short-container-title:Genet. Mol. Biol.

Author:

Pereira Samara Socorro Silva¹,Pinto Irene Plaza²,Santos Victor Cortázio do Prado¹,Silva Rafael Carneiro²,Costa Emília Oliveira Alves²,Cruz Alex Silva da²,Cruz Aparecido Divino da³,Silva Cláudio Carlos da⁴,Minasi Lysa Bernardes²^ORCID

Affiliation:

1. Pontifícia Universidade Católica de Goiás, Brazil; Universidade Federal de Goiás, Brazil

2. Pontifícia Universidade Católica de Goiás, Brazil

3. Pontifícia Universidade Católica de Goiás, Brazil; Secretaria Estadual de Saúde de Goiás, Brazil; Universidade Federal de Goiás, Brazil

4. Pontifícia Universidade Católica de Goiás, Brazil; Secretaria Estadual de Saúde de Goiás, Brazil

Publisher

FapUNIFESP (SciELO)

Link

http://www.scielo.br/scielo.php?script=sci_pdf&pid=S1415-47572024000400104&tlng=en

Reference28 articles.

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2. Replication stress and mechanisms of CNV formation;Arlt MF;Curr Opin Genet Dev,2012

3. Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features;Battaglia A;Eur J Paediatr Neurol,2013

4. Increased paternal age and the influence on burden of genomic copy number variation in the general population;Buizer-Voskamp JE;Hum Genet,2013

5. Mechanisms underlying structural variant formation in genomic disorders;Carvalho CMB;Nat Rev Genet,2016