Detalhe da pesquisa
1.
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
2.
Identification of Cx43 variants predisposing to ventricular fibrillation in the acute phase of ST-elevation myocardial infarction.
Europace
; 25(1): 101-111, 2023 02 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35942675
3.
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
4.
Whole MYBPC3 NGS sequencing as a molecular strategy to improve the efficiency of molecular diagnosis of patients with hypertrophic cardiomyopathy.
Hum Mutat
; 41(2): 465-475, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31730716
5.
Cardiomyopathy due to PRDM16 mutation: First description of a fetal presentation, with possible modifier genes.
Am J Med Genet C Semin Med Genet
; 184(1): 129-135, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31965688
6.
Development of a new expanded next-generation sequencing panel for genetic diseases involved in dyslipidemia.
Clin Genet
; 98(6): 589-594, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33111339
7.
Cardiac voltage-gated sodium channel mutations associated with left atrial dysfunction and stroke in children.
Europace
; 20(10): 1692-1698, 2018 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29579189
8.
TRPM4 non-selective cation channel variants in long QT syndrome.
BMC Med Genet
; 18(1): 31, 2017 03 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-28315637
9.
Functional and clinical characterization of a novel homozygous KCNH2 missense variant in the pore region of Kv11.1 leading to a viable but severe long-QT syndrome.
Gene
; 897: 148076, 2024 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38086455
10.
Relevance of Extending FGFR3 Gene Analysis in Osteochondrodysplasia to Non-Coding Sequences: A Case Report.
Genes (Basel)
; 15(2)2024 Feb 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38397214
11.
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
12.
A human MYBPC3 mutation appearing about 10 centuries ago results in a hypertrophic cardiomyopathy with delayed onset, moderate evolution but with a risk of sudden death.
BMC Med Genet
; 13: 105, 2012 Nov 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-23140321
13.
Molecular Diagnosis of Primary Cardiomyopathy in 231 Unrelated Pediatric Cases by Panel-Based Next-Generation Sequencing: A Major Focus on Five Carriers of Biallelic TNNI3 Pathogenic Variants.
Mol Diagn Ther
; 26(5): 551-560, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35838873
14.
Molecular Diagnosis of Inherited Cardiac Diseases in the Era of Next-Generation Sequencing: A Single Center's Experience Over 5 Years.
Mol Diagn Ther
; 25(3): 373-385, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33954932
15.
Whole Sequencing of Most Prevalent Dilated Cardiomyopathy-Causing Genes as a Molecular Strategy to Improve Molecular Diagnosis Efficiency?
DNA Cell Biol
; 40(3): 491-498, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33493017
16.
Characterization of Loss-Of-Function KCNJ2 Mutations in Atypical Andersen Tawil Syndrome.
Front Genet
; 12: 773177, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34899860
17.
Deciphering DSC2 arrhythmogenic cardiomyopathy electrical instability: From ion channels to ECG and tailored drug therapy.
Clin Transl Med
; 11(3): e319, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33784018
18.
U1 snRNA mis-binding: a new cause of CMT1B.
Neurogenetics
; 11(1): 13-9, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19475438
19.
Clinical impact of post-mortem genetic testing in cardiac death and cardiomyopathy.
Open Med (Wars)
; 15(1): 435-446, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33336002
20.
iPSC Modeling of RBM20-Deficient DCM Identifies Upregulation of RBM20 as a Therapeutic Strategy.
Cell Rep
; 32(10): 108117, 2020 09 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32905764