Detalhe da pesquisa
1.
Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.
PLoS Genet
; 17(7): e1009679, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34324492
2.
Correction: Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.
PLoS Genet
; 17(9): e1009809, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34547032
3.
Indications and management of implantable cardioverter-defibrillator therapy in childhood hypertrophic cardiomyopathy.
Cardiol Young
; 33(5): 681-698, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-37102324
4.
Biallelic mutation in MYH7 and MYBPC3 leads to severe cardiomyopathy with left ventricular noncompaction phenotype.
Hum Mutat
; 40(8): 1101-1114, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30924982
5.
Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3.
Clin Genet
; 96(6): 549-559, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31568572
6.
2023 ESC Guidelines for the management of cardiomyopathies.
Eur Heart J
; 44(37): 3503-3626, 2023 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37622657
7.
Indications and management of implantable cardioverter-defibrillator therapy in childhood hypertrophic cardiomyopathy: A position statement from the AEPC Working Group on Basic Science, Genetics and Myocardial Disease and the AEPC Working Group on Cardiac Dysrhythmias and Electrophysiology - ERRATUM.
Cardiol Young
; 34(2): 469, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38247360
8.
The progressive ankylosis protein ANK facilitates clathrin- and adaptor-mediated membrane traffic at the trans-Golgi network-to-endosome interface.
Hum Mol Genet
; 25(17): 3836-3848, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27466194
9.
Rare variants in NR2F2 cause congenital heart defects in humans.
Am J Hum Genet
; 94(4): 574-85, 2014 04 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-24702954
10.
Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy.
Am J Hum Genet
; 93(1): 67-77, 2013 Jul 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-23768516
11.
Rare copy number variants contribute to congenital left-sided heart disease.
PLoS Genet
; 8(9): e1002903, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22969434
12.
Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans.
Am J Hum Genet
; 98(3): 592, 2016 Mar 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28863274
13.
Prdm16 mutation determines sex-specific cardiac metabolism and identifies two novel cardiac metabolic regulators.
Cardiovasc Res
; 119(18): 2902-2916, 2024 02 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-37842925
14.
Ebstein anomaly associated with left ventricular noncompaction: an autosomal dominant condition that can be caused by mutations in MYH7.
Am J Med Genet C Semin Med Genet
; 163C(3): 178-84, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23794396
15.
Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy.
Nat Genet
; 30(2): 201-4, 2002 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-11788824
16.
Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy.
Nat Genet
; 36(11): 1162-4, 2004 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-15489853
17.
Reponse to De Leeuw and Houge.
Am J Hum Genet
; 94(1): 154-5, 2014 Jan 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-24387996
18.
Value of cardiovascular MR in diagnosing left ventricular non-compaction cardiomyopathy and in discriminating between other cardiomyopathies.
Eur Radiol
; 22(12): 2699-709, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22772366
19.
Left Ventricular Noncompaction in Children: The Role of Genetics, Morphology, and Function for Outcome.
J Cardiovasc Dev Dis
; 9(7)2022 Jun 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-35877568
20.
Nationwide Registry-Based Analysis of Infective Endocarditis Risk After Pulmonary Valve Replacement.
J Am Heart Assoc
; 11(5): e022231, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35179045