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A non-syndromic intellectual disability associated with a de novo microdeletion at 7q and 18p, microduplication at Xp, and 18q partial trisomy detected using chromosomal microarray analysis approach.
Pinto IP, Minasi LB, da Cruz AS, de Melo AV, da Cruz E Cunha DM, Pereira RR, Ribeiro CL, da Silva CC, de Melo E Silva D, da Cruz AD. Pinto IP, et al. Among authors: da silva cc, da cruz ad, da cruz as, da cruz e cunha dm. Mol Cytogenet. 2014 Jun 27;7:44. doi: 10.1186/1755-8166-7-44. eCollection 2014. Mol Cytogenet. 2014. PMID: 25028595 Free PMC article.
Screening for intellectual disability using high-resolution CMA technology in a retrospective cohort from Central Brazil.
Pereira RR, Pinto IP, Minasi LB, de Melo AV, da Cruz e Cunha DM, Cruz AS, Ribeiro CL, da Silva CC, de Melo e Silva D, da Cruz AD. Pereira RR, et al. Among authors: da silva cc, da cruz ad, cruz as, da cruz e cunha dm. PLoS One. 2014 Jul 25;9(7):e103117. doi: 10.1371/journal.pone.0103117. eCollection 2014. PLoS One. 2014. PMID: 25061755 Free PMC article.
63 results