Detalhe da pesquisa
1.
1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients.
Am J Med Genet A
; 191(2): 445-458, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36369750
2.
Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication-deletion: Genotype-phenotype correlation for anomalies of the corpus callosum.
Clin Genet
; 101(3): 307-316, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34866188
3.
Whole-genome analysis of a putative rare and complex interchromosomal reciprocal insertion: thorough investigations for a straightforward interpretation.
Reprod Biomed Online
; 44(4): 636-640, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35065912
4.
Genetic analyses of a large cohort of infertile patients with globozoospermia, DPY19L2 still the main actor, GGN confirmed as a guest player.
Hum Genet
; 140(1): 43-57, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-33108537
5.
NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly.
Am J Hum Genet
; 103(5): 752-768, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30388402
6.
Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice.
J Med Genet
; 56(10): 701-710, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31451536
7.
Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in France.
Prenat Diagn
; 39(6): 464-470, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30896039
8.
Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non-homologous Robertsonian translocation. Should we still perform prenatal diagnosis?
Prenat Diagn
; 39(11): 986-992, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31273809
9.
A Broad Test Based on Fluorescent-Multiplex PCR for Noninvasive Prenatal Diagnosis of Cystic Fibrosis.
Fetal Diagn Ther
; 45(6): 403-412, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30121677
10.
The genetics of recurrent hydatidiform moles: new insights and lessons from a comprehensive analysis of 113 patients.
Mod Pathol
; 31(7): 1116-1130, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29463882
11.
A new autoinflammatory and autoimmune syndrome associated with NLRP1 mutations: NAIAD (NLRP1-associated autoinflammation with arthritis and dyskeratosis).
Ann Rheum Dis
; 76(7): 1191-1198, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-27965258
12.
Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.
Genet Med
; 18(1): 49-56, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25790162
13.
Identification of disrupted AUTS2 and EPHA6 genes by array painting in a patient carrying a de novo balanced translocation t(3;7) with intellectual disability and neurodevelopment disorder.
Am J Med Genet A
; 167A(12): 3031-7, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26333717
14.
CEP57 mutation in a girl with mosaic variegated aneuploidy syndrome.
Am J Med Genet A
; 164A(1): 177-81, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24259107
15.
[Complex chromosomal rearrangements: a paradigm for the study of chromosomal instability]. / Les remaniements chromosomiques complexes - un paradigme pour l'étude de l'instabilité chromosomique.
Med Sci (Paris)
; 30(1): 55-63, 2014 Jan.
Artigo
em Francês
| MEDLINE | ID: mdl-24472460
16.
[Chromothripsis, an unexpected novel form of complexity for chromosomal rearrangements]. / Le chromothripsis - Une forme insoupçonnée de complexification extrême des remaniements chromosomiques.
Med Sci (Paris)
; 30(3): 266-73, 2014 Mar.
Artigo
em Francês
| MEDLINE | ID: mdl-24685217
17.
Characterizing PALB2 intragenic duplication breakpoints in a triple-negative breast cancer case using long-read sequencing.
Front Oncol
; 14: 1355715, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38487723
18.
Long-Reads Sequencing Strategy to Localize Variants in TTN Repeated Domains.
J Mol Diagn
; 24(7): 719-726, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35580751
19.
Molecular and evolutionary characteristics of the fraction of human alpha satellite DNA associated with CENP-A at the centromeres of chromosomes 1, 5, 19, and 21.
BMC Genomics
; 11: 195, 2010 Mar 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-20331851
20.
A 4.6 Mb Inversion Leading to PCDH15-LINC00844 and BICC1-PCDH15 Fusion Transcripts as a New Pathogenic Mechanism Implicated in Usher Syndrome Type 1.
Front Genet
; 11: 623, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32714370