Detalhe da pesquisa
1.
Mosaic Tetrasomy of 9p24.3q21.11 postnatally identified in an infant born with multiple congenital malformations: a case report.
BMC Pediatr
; 18(1): 298, 2018 09 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30193577
2.
Diagnostic yield of patients with undiagnosed intellectual disability, global developmental delay and multiples congenital anomalies using karyotype, microarray analysis, whole exome sequencing from Central Brazil.
PLoS One
; 17(4): e0266493, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35390071
3.
A rigorous in silico genomic interrogation at 1p13.3 reveals 16 autosomal dominant candidate genes in syndromic neurodevelopmental disorders.
Front Mol Neurosci
; 15: 979061, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36277487
4.
Deviation from Mendelian transmission of autosomal SNPs can be used to estimate germline mutations in humans exposed to ionizing radiation.
PLoS One
; 15(10): e0233941, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33108378
5.
Small de novo CNVs as biomarkers of parental exposure to low doses of ionizing radiation of caesium-137.
Sci Rep
; 8(1): 5914, 2018 04 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29651024
6.
The Identification of Microdeletion and Reciprocal Microduplication in 22q11.2 Using High-Resolution CMA Technology.
Biomed Res Int
; 2016: 7415438, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27123452
7.
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.
Mol Cytogenet
; 7: 44, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25028595
8.
Screening for intellectual disability using high-resolution CMA technology in a retrospective cohort from Central Brazil.
PLoS One
; 9(7): e103117, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25061755