Detalhe da pesquisa
1.
Expanding the phenotype of anauxetic dysplasia caused by biallelic NEPRO mutations: A case report.
Am J Med Genet A
; 191(9): 2440-2445, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37294112
2.
A new prediction model for ventricular arrhythmias in arrhythmogenic right ventricular cardiomyopathy.
Eur Heart J
; 43(32): e1-e9, 2022 08 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35441664
3.
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
4.
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
5.
KBTBD13 is a novel cardiomyopathy gene.
Hum Mutat
; 43(12): 1860-1865, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36335629
6.
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
7.
The genetic architecture of Plakophilin 2 cardiomyopathy.
Genet Med
; 23(10): 1961-1968, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34120153
8.
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
9.
Goldberg-Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP.
Hum Mutat
; 41(11): 1906-1917, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32939943
10.
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
11.
Mutations in CYB561 Causing a Novel Orthostatic Hypotension Syndrome.
Circ Res
; 122(6): 846-854, 2018 03 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-29343526
12.
A new prediction model for ventricular arrhythmias in arrhythmogenic right ventricular cardiomyopathy.
Eur Heart J
; 40(23): 1850-1858, 2019 06 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-30915475
13.
Novel SPEG mutations in congenital myopathies: Genotype-phenotype correlations.
Muscle Nerve
; 59(3): 357-362, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30412272
14.
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
15.
Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel.
Genet Med
; 20(3): 351-359, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29300372
16.
Identification of sarcomeric variants in probands with a clinical diagnosis of arrhythmogenic right ventricular cardiomyopathy (ARVC).
J Cardiovasc Electrophysiol
; 29(7): 1004-1009, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29709087
17.
CoNVaDING: Single Exon Variation Detection in Targeted NGS Data.
Hum Mutat
; 37(5): 457-64, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26864275
18.
Correction to: The genetic architecture of Plakophilin 2 cardiomyopathy.
Genet Med
; 23(10): 2014, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34408292
19.
Impact of genotype on clinical course in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated mutation carriers.
Eur Heart J
; 36(14): 847-55, 2015 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25616645
20.
The ARVD/C genetic variants database: 2014 update.
Hum Mutat
; 36(4): 403-10, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25676813