Detalhe da pesquisa
1.
The 22q11 low copy repeats are characterized by unprecedented size and structural variability.
Genome Res
; 29(9): 1389-1401, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31481461
2.
Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion.
Mol Psychiatry
; 26(8): 4496-4510, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32015465
3.
Atypical chromosome 22q11.2 deletions are complex rearrangements and have different mechanistic origins.
Hum Mol Genet
; 28(22): 3724-3733, 2019 11 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31884517
4.
Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2.
Hum Mol Genet
; 27(7): 1150-1163, 2018 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29361080
5.
Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements.
Am J Hum Genet
; 101(4): 616-622, 2017 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28965848
6.
Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition.
Genet Med
; 22(2): 326-335, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31474763
7.
Retraction Notice to: Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements.
Am J Hum Genet
; 103(3): 457, 2018 09 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30193139
8.
Reciprocal 22q11.2 Deletion and Duplication in Siblings with Karyotypically Normal Parents.
Cytogenet Genome Res
; 148(1): 1-5, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27055209