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.
Standardization of capillary electrophoresis for diagnosis of fragile X syndrome in the Brazilian public health system.
Electrophoresis
; 37(23-24): 3076-3078, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27667322
3.
c.1103T>C (p.Ile368Th) de novo Variant in Synaptotagmin 1 (SYT1) Gene is Pathogenic, Leading to an Ultra-Rare Neurodevelopmental Disorder: The Baker-Gordon Syndrome.
Int Med Case Rep J
; 17: 63-70, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38283597
4.
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
5.
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
6.
Single-Nucleotide Polymorphism Variations Associated With Specific Genes Putatively Identified Enhanced Genetic Predisposition for 305-Day Milk Yield in the Girolando Crossbreed.
Front Genet
; 11: 573344, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33584786
7.
Frequency of Esophageal Eosinophilia in a Pediatric Population from Central Brazil.
Sci Rep
; 8(1): 5000, 2018 03 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-29568038
8.
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
9.
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
10.
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
11.
Do GSTT1 and GSTM1 polymorphisms influence intoxication events in individuals occupationally exposed to pesticides?
Environ Sci Pollut Res Int
; 21(5): 3706-12, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24281680
12.
Verificação genotípica do polimorfismo rs1143634 do gene il1b em indivíduos com a doença periodontal crônica / Genotypic Verification rs1143634 polymorphism IL1B gene in Individuals with Chronic Periodontal Disease
Periodontia
; 27(2): 27-33, 2017.
Artigo
em Português
| LILACS, BBO | ID: biblio-847052