Detalhe da pesquisa
1.
Untargeted Metabolomics Identifies Potential Hypertrophic Cardiomyopathy Biomarkers in Carriers of MYBPC3 Founder Variants.
Int J Mol Sci
; 24(4)2023 Feb 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36835444
2.
Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy.
J Med Genet
; 57(1): 23-30, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31494578
3.
Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants.
Am Heart J
; 225: 108-119, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32480058
4.
Toward an effective exome-based genetic testing strategy in pediatric dilated cardiomyopathy.
Genet Med
; 20(11): 1374-1386, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29517769
5.
Targeted next-generation sequencing can replace Sanger sequencing in clinical diagnostics.
Hum Mutat
; 34(7): 1035-42, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23568810
6.
SEPT-GD: A decision tree to prioritise potential RNA splice variants in cardiomyopathy genes for functional splicing assays in diagnostics.
Gene
; 851: 146984, 2023 Jan 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-36270459
7.
Diagnostic yield of targeted next generation sequencing in 2002 Dutch cardiomyopathy patients.
Int J Cardiol
; 332: 99-104, 2021 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33662488
8.
The effect of tropomyosin variants on cardiomyocyte function and structure that underlie different clinical cardiomyopathy phenotypes.
Int J Cardiol
; 323: 251-258, 2021 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32882290
9.
Publisher Correction: Relevance of Titin Missense and Non-Frameshifting Insertions/Deletions Variants in Dilated Cardiomyopathy.
Sci Rep
; 10(1): 17264, 2020 Oct 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33037269
10.
Relevance of Titin Missense and Non-Frameshifting Insertions/Deletions Variants in Dilated Cardiomyopathy.
Sci Rep
; 9(1): 4093, 2019 03 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30858397
11.
No major role for rare plectin variants in arrhythmogenic right ventricular cardiomyopathy.
PLoS One
; 13(8): e0203078, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30161220
12.
Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy.
Circulation
; 113(13): 1650-8, 2006 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-16567567
13.
Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy.
J Am Coll Cardiol
; 67(5): 515-25, 2016 Feb 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-26846950
14.
Plectin mutations underlie epidermolysis bullosa simplex in 8% of patients.
J Invest Dermatol
; 134(1): 273-276, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23774525
15.
Novel methods for genetic transformation of natural Bacillus subtilis isolates used to study the regulation of the mycosubtilin and surfactin synthetases.
Appl Environ Microbiol
; 73(11): 3490-6, 2007 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-17416694
16.
Severe myocardial fibrosis caused by a deletion of the 5' end of the lamin A/C gene.
J Am Coll Cardiol
; 49(25): 2430-9, 2007 Jun 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-17599607
17.
A substantial proportion of microsatellite-unstable colon tumors carry TP53 mutations while not showing chromosomal instability.
Genes Chromosomes Cancer
; 43(2): 194-201, 2005 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-15729700
18.
Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems.
Am J Hum Genet
; 77(1): 120-6, 2005 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-15883926