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.
YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse.
Genet Med
; 25(7): 100835, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-36999555
3.
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
4.
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
5.
Postzygotic Breakages of Dicentric Chromosomes: A Rare Mechanism of Terminal Deletions.
Cytogenet Genome Res
; 162(5): 244-249, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36481557
6.
Cerebellar and Striatal Implications in Autism Spectrum Disorders: From Clinical Observations to Animal Models.
Int J Mol Sci
; 23(4)2022 Feb 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-35216408
7.
12q21 deletion syndrome: Narrowing the critical region down to 1.6 Mb including SYT1 and PPP1R12A.
Am J Med Genet A
; 182(9): 2133-2138, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32633079
8.
SOX3 duplication: A genetic cause to investigate in fetuses with neural tube defects.
Prenat Diagn
; 39(11): 1026-1034, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31299102
9.
Potential selection of genetically balanced spermatozoa based on the hypo-osmotic swelling test in chromosomal rearrangement carriers.
Reprod Biomed Online
; 35(4): 372-378, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28711302
10.
A French Approach to Test Fetuses with Ultrasound Abnormalities Using a Customized Microarray as First-Tier Genetic Test.
Cytogenet Genome Res
; 147(2-3): 103-10, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26735902
11.
17q21.31 microdeletion: brain anomalies leading to prenatal diagnosis.
Cytogenet Genome Res
; 144(3): 178-82, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25402493
12.
2p25.3 microduplications involving MYT1L: further phenotypic characterization through an assessment of 16 new cases and a literature review.
Eur J Hum Genet
; 31(8): 895-904, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37188826
13.
Whole-exome sequence analysis highlights the role of unmasked recessive mutations in copy number variants with incomplete penetrance.
Eur J Hum Genet
; 26(6): 912-918, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29483668
14.
Translating cell-based regenerative medicines from research to successful products: challenges and solutions.
Tissue Eng Part B Rev
; 20(4): 246-56, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24754565