Detalhe da pesquisa
1.
A germline chimeric KANK1-DMRT1 transcript derived from a complex structural variant is associated with a congenital heart defect segregating across five generations.
Chromosome Res
; 32(2): 6, 2024 03 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38504027
2.
Low-pass whole genome sequencing is a reliable and cost-effective approach for copy number variant analysis in the clinical setting.
Ann Hum Genet
; 88(2): 113-125, 2024 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37807935
3.
DNA methylation patterns suggest the involvement of DNMT3B and TET1 in osteosarcoma development.
Mol Genet Genomics
; 298(3): 721-733, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-37020053
4.
Genetic investigation of syndromic forms of obesity.
Int J Obes (Lond)
; 46(9): 1582-1586, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35597848
5.
Copy number variations in a Brazilian cohort with autism spectrum disorders highlight the contribution of cell adhesion genes.
Clin Genet
; 101(1): 134-141, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34664255
6.
Detection of mosaicism for segmental and whole chromosome imbalances by targeted sequencing.
Ann Hum Genet
; 85(1): 18-26, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32761927
7.
Mechanistic insights revealed by a UBE2A mutation linked to intellectual disability.
Nat Chem Biol
; 15(1): 62-70, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30531907
8.
Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses.
Am J Med Genet A
; 185(8): 2335-2344, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33988290
9.
Expanding the role of SETD5 haploinsufficiency in neurodevelopment and neuroblastoma.
Pediatr Blood Cancer
; 67(11): e28376, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32748512
10.
Clinical Characterization and Underlying Genetic Findings in Brazilian Patients with Syndromic Microcephaly Associated with Neurodevelopmental Disorders.
Mol Neurobiol
; 2024 Jan 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38180615
11.
Waardenburg Syndrome: The Contribution of Next-Generation Sequencing to the Identification of Novel Causative Variants.
Audiol Res
; 14(1): 9-25, 2023 Dec 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38391765
12.
Establishment of iPSC lines and zebrafish with loss-of-function AHDC1 variants: Models for Xia-Gibbs syndrome.
Gene
; 871: 147424, 2023 Jun 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-37054903
13.
A Small Supernumerary Xp Marker Chromosome Including Genes NR0B1 and MAGEB Causing Partial Gonadal Dysgenesis and Gonadoblastoma.
Sex Dev
; 16(1): 55-63, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-34510040
14.
Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil.
Sci Rep
; 12(1): 15184, 2022 09 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36071085
15.
Burden of Rare Copy Number Variants in Microcephaly: A Brazilian Cohort of 185 Microcephalic Patients and Review of the Literature.
J Autism Dev Disord
; 2022 Dec 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36502452
16.
Investigating Genetic Factors Contributing to Variable Expressivity of Class I 17p13.3 Microduplication.
Int J Mol Cell Med
; 9(4): 296-306, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33688487
17.
Manifesting carriers of X-linked myotubular myopathy: Genetic modifiers modulating the phenotype.
Neurol Genet
; 6(5): e513, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-33062893