Detalhe da pesquisa
1.
Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis.
Brain
; 2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38696726
2.
The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies.
Proc Natl Acad Sci U S A
; 119(21): e2200413119, 2022 05 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-35576468
3.
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
4.
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
5.
Implementation of amotosalen plus ultraviolet A-mediated pathogen reduction for all platelet concentrates in France: Impact on the risk of transfusion-transmitted infections.
Vox Sang
; 119(3): 212-218, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38152857
6.
Morphological and genetic causes of fetal cardiomyopathies.
Clin Genet
; 104(1): 63-72, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37209000
7.
Impact of donor ferritin testing on iron deficiency prevention and blood availability in France: A cohort simulation study.
Vox Sang
; 118(1): 24-32, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36427060
8.
Evolving deferral criteria for blood donation in France: Plasma donation by men who have sex with men.
Vox Sang
; 118(6): 440-446, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37183555
9.
Human immunodeficiency virus, hepatitis C virus and hepatitis B virus incidence in blood donors from 2000 to 2020 in France: Trends and lessons from haemovigilance surveillance.
Vox Sang
; 118(10): 843-853, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37694766
10.
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
11.
Genome Alert!: A standardized procedure for genomic variant reinterpretation and automated gene-phenotype reassessment in clinical routine.
Genet Med
; 24(6): 1316-1327, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35311657
12.
Risk of a blood donation contaminated with hepatitis E virus entering the blood supply before the implementation of universal RNA screening in France.
Vox Sang
; 117(12): 1411-1414, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36394899
13.
COVID-19 convalescent plasma: Evolving strategies for serological screening in France.
Vox Sang
; 117(4): 606-610, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-34897745
14.
Reduced neutralizing antibody potency of COVID-19 convalescent vaccinated plasma against SARS-CoV-2 Omicron variant.
Vox Sang
; 117(7): 971-975, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35577569
15.
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
16.
Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies.
Circulation
; 140(4): 293-302, 2019 07 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-31155932
17.
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
18.
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
19.
Rigid spine syndrome associated with sensory-motor axonal neuropathy resembling Charcot-Marie-Tooth disease is characteristic of Bcl-2-associated athanogene-3 gene mutations even without cardiac involvement.
Muscle Nerve
; 57(2): 330-334, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28224639
20.
Low neutralization capacity against SARS-CoV-2 Omicron BQ.1.1 of convalescent plasma collected during circulation of Omicron BA.1.
Vox Sang
; 118(5): 407-408, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36897221