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Article

Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in autism spectrum disorder Brazilian individuals with and without epilepsy.

PloS one - 1 Jan 2014

Moreira Danielle P, Griesi-Oliveira Karina, Bossolani-Martins Ana L, Lourenço Naila C V, Takahashi Vanessa N O, da Rocha Kátia M, Moreira Eloisa S, Vadasz Estevão, Meira Joanna Goes Castro, Bertola Debora, O'Halloran Eoghan, Magalhães Tiago R, Fett-Conte Agnes C, Passos-Bueno Maria Rita

Abstract excerpt

Copy number variations (CNVs) are an important cause of ASD and those located at 15q11-q13, 16p11.2 and 22q13 have been reported as the most frequent. These CNVs exhibit variable clinical expressivity and those at 15q11-q13 and 16p11.2 also show incomplete penetrance. In the present work, through...

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Identifiers

PMID: 25255310
DOI: 10.1371/journal.pone.0107705
PMCID: PMC4177849

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25255310-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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