Detalhe da pesquisa
1.
Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombination.
Clin Genet
; 103(4): 401-412, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36576162
2.
Complete characterisation of two new large Xq28 duplications involving F8 using whole genome sequencing in patients without haemophilia A.
Haemophilia
; 28(1): 117-124, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34480810
3.
Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.
J Med Genet
; 56(8): 526-535, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30923172
4.
Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis.
Hum Mutat
; 40(11): 1993-2000, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31230393
5.
Disruption and deletion of the proximal part of TCF4 are associated with mild intellectual disability: About three new patients.
Eur J Med Genet
; 65(4): 104458, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-35189377
6.
A 14q distal chromoanagenesis elucidated by whole genome sequencing.
Eur J Med Genet
; 63(4): 103776, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31562959
7.
Fryns type mesomelic dysplasia of the upper limbs caused by inverted duplications of the HOXD gene cluster.
Eur J Hum Genet
; 28(3): 324-332, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31591517
8.
Supravalvular Aortic Stenosis Caused by a Familial Chromosome 7 Inversion Disrupting the ELN Gene Uncovered by Whole-Genome Sequencing.
Mol Syndromol
; 10(4): 209-213, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-31602193