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.
The arrhythmogenic cardiomyopathy phenotype associated with PKP2 c.1211dup variant.
Neth Heart J
; 31(7-8): 315-323, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37505369
3.
Functional investigation of two simultaneous or separately segregating DSP variants within a single family supports the theory of a dose-dependent disease severity.
Exp Dermatol
; 31(6): 970-979, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35325485
4.
A mutation update for the FLNC gene in myopathies and cardiomyopathies.
Hum Mutat
; 41(6): 1091-1111, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32112656
5.
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
6.
A tailored approach to informing relatives at risk of inherited cardiac conditions: results of a randomised controlled trial.
Eur J Hum Genet
; 30(2): 203-210, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34815540
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.
Disease penetrance and risk stratification for sudden cardiac death in asymptomatic hypertrophic cardiomyopathy mutation carriers.
Eur Heart J
; 30(21): 2593-8, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19666645
9.
Three female patients with Danon disease presenting with predominant cardiac phenotype: a case series.
Eur Heart J Case Rep
; 3(3): ytz132, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-31660500
10.
Informing relatives at risk of inherited cardiac conditions: experiences and attitudes of healthcare professionals and counselees.
Eur J Hum Genet
; 27(9): 1341-1350, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31053782
11.
A tailored approach towards informing relatives at risk of inherited cardiac conditions: study protocol for a randomised controlled trial.
BMJ Open
; 9(7): e025660, 2019 07 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31289060
12.
Cardiac Phenotypes, Genetics, and Risks in Familial Noncompaction Cardiomyopathy.
J Am Coll Cardiol
; 73(13): 1601-1611, 2019 04 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30947911
13.
Genetics, Clinical Features, and Long-Term Outcome of Noncompaction Cardiomyopathy.
J Am Coll Cardiol
; 71(7): 711-722, 2018 02 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-29447731
14.
Deciduous Teeth as an Alternative DNA Source for Postmortem Genetic Testing.
Circ Genom Precis Med
; 13(2): e002674, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32003586
15.
Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects.
Eur J Hum Genet
; 23(7): 922-8, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25335496
16.
Dyssynchronopathy Can be a Manifestation of Heritable Cardiomyopathy.
Circ Genom Precis Med
; 12(5): e002528, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31112419
17.
HCN4 mutations in multiple families with bradycardia and left ventricular noncompaction cardiomyopathy.
J Am Coll Cardiol
; 64(8): 745-56, 2014 Aug 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-25145517
18.
The first titin (c.59926 + 1G > A) founder mutation associated with dilated cardiomyopathy.
Eur J Heart Fail
; 20(4): 803-806, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29057560
19.
Mortality risk of untreated myosin-binding protein C-related hypertrophic cardiomyopathy: insight into the natural history.
J Am Coll Cardiol
; 58(23): 2406-14, 2011 Nov 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-22115648
20.
Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis.
Nat Genet
; 43(2): 121-6, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21217753