Detalhe da pesquisa
1.
A gain-of-function HCN4 mutant in the HCN domain is responsible for inappropriate sinus tachycardia in a Spanish family.
Proc Natl Acad Sci U S A
; 120(49): e2305135120, 2023 Dec 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38032931
2.
iPSC-Based Modeling of Variable Clinical Presentation in Hypertrophic Cardiomyopathy.
Circ Res
; 133(2): 108-119, 2023 07 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37317833
3.
A Human Hereditary Cardiomyopathy Shares a Genetic Substrate With Bicuspid Aortic Valve.
Circulation
; 147(1): 47-65, 2023 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36325906
4.
Protein haploinsufficiency drivers identify MYBPC3 variants that cause hypertrophic cardiomyopathy.
J Biol Chem
; 297(1): 100854, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34097875
5.
Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy.
Eur Heart J
; 42(32): 3063-3073, 2021 08 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34263907
6.
Deletions of specific exons of FHOD3 detected by next-generation sequencing are associated with hypertrophic cardiomyopathy.
Clin Genet
; 98(1): 86-90, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32335906
7.
The impact of diabetes mellitus on the clinical phenotype of hypertrophic cardiomyopathy.
Eur Heart J
; 40(21): 1671-1677, 2019 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30358878
8.
Electrophysiological abnormalities in induced pluripotent stem cell-derived cardiomyocytes generated from Duchenne muscular dystrophy patients.
J Cell Mol Med
; 23(3): 2125-2135, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30618214
9.
Diagnostic Yield of Genetic Testing in Young Athletes With T-Wave Inversion.
Circulation
; 138(12): 1184-1194, 2018 09 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-29764897
10.
Novel Desmin Mutation p.Glu401Asp Impairs Filament Formation, Disrupts Cell Membrane Integrity, and Causes Severe Arrhythmogenic Left Ventricular Cardiomyopathy/Dysplasia.
Circulation
; 137(15): 1595-1610, 2018 04 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29212896
11.
The effect of enzyme replacement therapy on clinical outcomes in paediatric patients with Fabry disease - A systematic literature review by a European panel of experts.
Mol Genet Metab
; 126(3): 212-223, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29785937
12.
European expert consensus statement on therapeutic goals in Fabry disease.
Mol Genet Metab
; 124(3): 189-203, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30017653
13.
The structural effects of mutations can aid in differential phenotype prediction of beta-myosin heavy chain (Myosin-7) missense variants.
Bioinformatics
; 32(19): 2947-55, 2016 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27318203
14.
Response by Sheikh et al to Letter Regarding Article, "Diagnostic Yield of Genetic Testing in Young Athletes With T-Wave Inversion".
Circulation
; 139(7): 996-997, 2019 02 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30742527
15.
A novel clinical risk prediction model for sudden cardiac death in hypertrophic cardiomyopathy (HCM risk-SCD).
Eur Heart J
; 35(30): 2010-20, 2014 Aug 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-24126876
16.
Modeling Peripartum Cardiomyopathy With Human Induced Pluripotent Stem Cells Reveals Distinctive Abnormal Function of Cardiomyocytes.
Circulation
; 138(23): 2721-2723, 2018 12 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30571272
17.
Desmoplakin truncations and arrhythmogenic left ventricular cardiomyopathy: characterizing a phenotype.
Europace
; 16(12): 1838-46, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24938629
18.
Merits and pitfalls of genetic testing in a hypertrophic cardiomyopathy clinic.
Isr Med Assoc J
; 16(11): 707-13, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25558701
19.
Proposed diagnostic criteria for arrhythmogenic cardiomyopathy: European Task Force consensus report.
Int J Cardiol
; 395: 131447, 2024 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37844667
20.
Somatic MYH7, MYBPC3, TPM1, TNNT2 and TNNI3 mutations in sporadic hypertrophic cardiomyopathy.
Circ J
; 77(9): 2358-65, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23782526