Detalhe da pesquisa
1.
DNA-pools targeted-sequencing as a robust cost-effective method to detect rare variants: Application to dilated cardiomyopathy genetic diagnosis.
Clin Genet
; 105(2): 185-189, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37904629
2.
Prevalence and phenotypes associated with ALPK3 null variants in a large French multicentric cohort: Confirming its involvement in hypertrophic cardiomyopathy.
Clin Genet
; 105(6): 676-682, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38356193
3.
Morphological and genetic causes of fetal cardiomyopathies.
Clin Genet
; 104(1): 63-72, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37209000
4.
MYH7 p.(Arg1712Gln) is pathogenic founder variant causing hypertrophic cardiomyopathy with overall relatively delayed onset.
Neth Heart J
; 31(7-8): 300-307, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37488328
5.
Phenotype/Genotype Relationship in Left Ventricular Noncompaction: Ion Channel Gene Mutations Are Associated With Preserved Left Ventricular Systolic Function and Biventricular Noncompaction: Phenotype/Genotype of Noncompaction.
J Card Fail
; 27(6): 677-681, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34088380
6.
A novel gain-of-function mutation in SCN5A responsible for multifocal ectopic Purkinje-related premature contractions.
Hum Mutat
; 41(4): 850-859, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31930659
7.
Targeted panel sequencing in adult patients with left ventricular non-compaction reveals a large genetic heterogeneity.
Clin Genet
; 95(3): 356-367, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30471092
8.
FLNC pathogenic variants in patients with cardiomyopathies: Prevalence and genotype-phenotype correlations.
Clin Genet
; 96(4): 317-329, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31245841
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.
High prevalence of arrhythmic and myocardial complications in patients with cardiac glycogenosis due to PRKAG2 mutations.
Europace
; 19(4): 651-659, 2017 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28431061
11.
Postartesunate delayed hemolysis is a predictable event related to the lifesaving effect of artemisinins.
Blood
; 124(2): 167-75, 2014 Jul 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-24859359
12.
Delayed-onset hemolytic anemia in patients with travel-associated severe malaria treated with artesunate, France, 2011-2013.
Emerg Infect Dis
; 21(5): 804-12, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25898007
13.
Generation of CRISPR-Cas9 edited human induced pluripotent stem cell line carrying BAG3 V468M mutation in its BAG domain.
Stem Cell Res
; 74: 103294, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38183888
14.
Prophylactic Pulmonary Artery Banding in Pediatric Dilated Cardiomyopathy: An Additional Therapeutic Option.
J Cardiovasc Dev Dis
; 11(3)2024 Feb 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38535102
15.
The FLNC Ala1186Val Variant Linked to Cytoplasmic Body Myopathy and Cardiomyopathy Causes Protein Instability.
Biomedicines
; 12(2)2024 Jan 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38397924
16.
NEXN Gene in Cardiomyopathies and Sudden Cardiac Deaths: Prevalence, Phenotypic Expression, and Prognosis.
Circ Genom Precis Med
; 17(1): e004285, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38059363
17.
High prevalence of arrhythmic and myocardial complications in patients with cardiac glycogenosis due to PRKAG2 mutations: Authors' reply.
Europace
; 20(8): 1389, 2018 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29036338
18.
Abnormal Cellular Phenotypes Induced by Three TMPO/LAP2 Variants Identified in Men with Cardiomyopathies.
Cells
; 12(2)2023 01 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36672271
19.
Generation of CRISPR-Cas9 edited human induced pluripotent stem cell line carrying FLNC exon skipping variant.
Stem Cell Res
; 58: 102616, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34883448
20.
Generation of a heterozygous SCN5A knockout human induced pluripotent stem cell line by CRISPR/Cas9 edition.
Stem Cell Res
; 60: 102680, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35093717