Detalhe da pesquisa
1.
In skeletal muscle and neural crest cells, SMCHD1 regulates biological pathways relevant for Bosma syndrome and facioscapulohumeral dystrophy phenotype.
Nucleic Acids Res
; 51(14): 7269-7287, 2023 08 11.
Artigo
Inglês
| MEDLINE | ID: mdl-37334829
2.
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
Inglês
| MEDLINE | ID: mdl-37488328
3.
Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry disease.
Clin Genet
; 101(4): 390-402, 2022 04.
Artigo
Inglês
| MEDLINE | ID: mdl-34927718
4.
Heterozygous HTRA1 nonsense or frameshift mutations are pathogenic.
Brain
; 144(9): 2616-2624, 2021 10 22.
Artigo
Inglês
| MEDLINE | ID: mdl-34270682
5.
SCN5A Variants as Genetic Arrhythmias Triggers for Familial Bileaflet Mitral Valve Prolapse.
Int J Mol Sci
; 23(22)2022 Nov 21.
Artigo
Inglês
| MEDLINE | ID: mdl-36430924
6.
Retrospective analysis and reclassification of DYSF variants in a large French series of dysferlinopathy patients.
Genet Med
; 23(8): 1574-1577, 2021 08.
Artigo
Inglês
| MEDLINE | ID: mdl-33927379
7.
High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families.
Genet Med
; 23(11): 2160-2170, 2021 11.
Artigo
Inglês
| MEDLINE | ID: mdl-34234304
8.
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
Inglês
| MEDLINE | ID: mdl-34088380
9.
SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite.
Nucleic Acids Res
; 47(6): 2822-2839, 2019 04 08.
Artigo
Inglês
| MEDLINE | ID: mdl-30698748
10.
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
Inglês
| MEDLINE | ID: mdl-31730716
11.
Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophy.
J Med Genet
; 56(9): 590-601, 2019 09.
Artigo
Inglês
| MEDLINE | ID: mdl-31010831
12.
Type 1 FSHD with 6-10 Repeated Units: Factors Underlying Severity in Index Cases and Disease Penetrance in Their Relatives Attention.
Int J Mol Sci
; 21(6)2020 Mar 23.
Artigo
Inglês
| MEDLINE | ID: mdl-32210100
13.
Functional classification of ATM variants in ataxia-telangiectasia patients.
Hum Mutat
; 40(10): 1713-1730, 2019 10.
Artigo
Inglês
| MEDLINE | ID: mdl-31050087
14.
Widening the landscape of heritable pulmonary hypertension mutations in paediatric and adult cases.
Eur Respir J
; 53(3)2019 03.
Artigo
Inglês
| MEDLINE | ID: mdl-30578383
15.
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
Inglês
| MEDLINE | ID: mdl-30471092
16.
Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy.
Hum Mutat
; 38(10): 1432-1441, 2017 10.
Artigo
Inglês
| MEDLINE | ID: mdl-28744936
17.
Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues.
Acta Neuropathol
; 134(6): 889-904, 2017 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-28685322
18.
Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report.
BMC Med Genet
; 17(1): 66, 2016 Sep 15.
Artigo
Inglês
| MEDLINE | ID: mdl-27634379
19.
Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy.
Hum Mol Genet
; 22(20): 4206-14, 2013 Oct 15.
Artigo
Inglês
| MEDLINE | ID: mdl-23777630
20.
Association of Plasma Creatinine Phosphokinase Elevation and a History of Idiopathic Cardiomyopathy in Recipients of Heart Transplant.
Am J Cardiol
; 213: 50-54, 2024 Feb 15.
Artigo
Inglês
| MEDLINE | ID: mdl-38110026