Detalhe da pesquisa
1.
3q29 duplications: A cohort of 46 patients and a literature review.
Am J Med Genet A
; : e63531, 2024 Feb 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38421086
2.
Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome.
Am J Med Genet A
; 191(1): 52-63, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36196855
3.
Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases.
J Med Genet
; 59(12): 1234-1240, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36137615
4.
GM2 gangliosidosis AB variant: first case of late onset and review of the literature.
Neurol Sci
; 43(11): 6517-6527, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-35925454
5.
Meiotic pairing and gene expression disturbance in germ cells from an infertile boar with a balanced reciprocal autosome-autosome translocation.
Chromosome Res
; 24(4): 511-527, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27484982
6.
Erratum to: Meiotic pairing and gene expression disturbance in germ cells from an infertile boar with a balanced reciprocal autosome-autosome translocation.
Chromosome Res
; 24(4): 529-530, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27581770
7.
Telomere aberrations, including telomere loss, doublets, and extreme shortening, are increased in patients with infertility.
Fertil Steril
; 115(1): 164-173, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33272625
8.
Telomere and Centromere Staining Followed by M-FISH Improves Diagnosis of Chromosomal Instability and Its Clinical Utility.
Genes (Basel)
; 11(5)2020 04 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-32349350
9.
Familial 1p36.3 microduplication resulting from a 1p-9q non-reciprocal translocation.
Eur J Med Genet
; 60(11): 583-588, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28811188
10.
Double deletion of a chromosome 21 inserted in a chromosome 22 in an azoospermic patient.
Clin Case Rep
; 3(9): 757-61, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26401282