Detalhe da pesquisa
1.
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
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.
Diagnosis of becker muscular dystrophy: Results of Re-analysis of DNA samples.
Muscle Nerve
; 53(1): 44-8, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25900853
4.
Pathogenic effect of a TGFBR1 mutation in a family with Loeys-Dietz syndrome.
Mol Genet Genomic Med
; 7(10): e00943, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31475485
5.
Yield of family screening in patients with isolated bicuspid aortic valve in a general hospital.
Int J Cardiol
; 255: 55-58, 2018 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29329770
6.
Expert consensus recommendations on the cardiogenetic care for patients with thoracic aortic disease and their first-degree relatives.
Int J Cardiol
; 258: 243-248, 2018 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29452988
7.
Acromegaly in a multiple endocrine neoplasia type 1 (MEN1) family with low penetrance of the disease.
Eur J Endocrinol
; 153(6): 741-6, 2005 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-16322378
8.
Functional assessment of potential splice site variants in arrhythmogenic right ventricular dysplasia/cardiomyopathy.
Heart Rhythm
; 11(11): 2010-7, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25087486
9.
Outcome in phospholamban R14del carriers: results of a large multicentre cohort study.
Circ Cardiovasc Genet
; 7(4): 455-65, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24909667
10.
Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience.
Eur J Heart Fail
; 15(6): 628-36, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23349452