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.
DNASE1L3 deficiency, new phenotypes, and evidence for a transient type I IFN signaling.
J Clin Immunol
; 42(6): 1310-1320, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35670985
3.
APOB CRISPR-Cas9 Engineering in Hypobetalipoproteinemia: A Promising Tool for Functional Studies of Novel Variants.
Int J Mol Sci
; 23(8)2022 Apr 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35457099
4.
Reccurrent F8 Intronic Deletion Found in Mild Hemophilia A Causes Alu Exonization.
Am J Hum Genet
; 102(2): 199-206, 2018 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29357978
5.
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.
Genet Med
; 23(12): 2415-2425, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34400813
6.
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
7.
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
8.
Use of minigene assays as a useful tool to confirm the pathogenic role of intronic variations of the ANK1 gene: Report of two cases of hereditary spherocytosis.
Br J Haematol
; 201(4): e46-e49, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36928866
9.
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
10.
Interest of minigene splicing reporter assay in familial hypobetalipoproteinemia genetic diagnosis: the example of the missense mutation APOB c.1468C>T.
Clin Chem Lab Med
; 61(12): e259-e262, 2023 11 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37309596
11.
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.
Genet Med
; 24(4): 967, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-35394429
12.
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
13.
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
14.
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
15.
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
16.
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
17.
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
18.
Characterization of Loss-Of-Function KCNJ2 Mutations in Atypical Andersen Tawil Syndrome.
Front Genet
; 12: 773177, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34899860
19.
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
20.
PCSK9 post-transcriptional regulation: Role of a 3'UTR microRNA-binding site variant in linkage disequilibrium with c.1420G.
Atherosclerosis
; 314: 63-70, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33186855