Detalhe da pesquisa
1.
Good performance of the criteria of American College of Medical Genetics and Genomics/Association for Molecular Pathology in prediction of pathogenicity of genetic variants causing thoracic aortic aneurysms and dissections.
J Transl Med
; 20(1): 42, 2022 01 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-35078481
2.
Genome-wide association analysis in dilated cardiomyopathy reveals two new players in systolic heart failure on chromosomes 3p25.1 and 22q11.23.
Eur Heart J
; 42(20): 2000-2011, 2021 05 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-33677556
3.
Impact of cardiac magnetic resonance on the diagnosis of hypertrophic cardiomyopathy - a 10-year experience with over 1000 patients.
Eur Radiol
; 31(3): 1194-1205, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-32876838
4.
A different background of arrhythmia in siblings with a positive family history of sudden death at young age.
Ann Noninvasive Electrocardiol
; 25(4): e12707, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31609036
5.
Coincidence of Andersen-Tawil syndrome and Marfan syndrome: A case report.
Ann Noninvasive Electrocardiol
; 24(3): e12624, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30672637
6.
Rapid and effective response of the R222Q SCN5A to quinidine treatment in a patient with Purkinje-related ventricular arrhythmia and familial dilated cardiomyopathy: a case report.
BMC Med Genet
; 19(1): 94, 2018 06 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29871609
7.
Quantification of mitral regurgitation in patients with hypertrophic cardiomyopathy using aortic and pulmonary flow data: impacts of left ventricular outflow tract obstruction and different left ventricular segmentation methods.
J Cardiovasc Magn Reson
; 19(1): 105, 2017 12 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-29268761
8.
Evidence for troponin C (TNNC1) as a gene for autosomal recessive restrictive cardiomyopathy with fatal outcome in infancy.
Am J Med Genet A
; 170(12): 3241-3248, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27604170
9.
Does p.Q247X in TRIM63 cause human hypertrophic cardiomyopathy?
Circ Res
; 114(2): e2-5, 2014 Jan 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-24436435
10.
A study in Polish patients with cardiomyopathy emphasizes pathogenicity of phospholamban (PLN) mutations at amino acid position 9 and low penetrance of heterozygous null PLN mutations.
BMC Med Genet
; 16: 21, 2015 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-25928149
11.
The BAG3 gene variants in Polish patients with dilated cardiomyopathy: four novel mutations and a genotype-phenotype correlation.
J Transl Med
; 12: 192, 2014 Jul 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-25008357
12.
A MYH7 variant in a five-generation-family with hypertrophic cardiomyopathy.
Front Genet
; 15: 1306333, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38389574
13.
Troponin T Assessment Allows for Identification of Mutation Carriers among Young Relatives of Patients with LMNA-Related Dilated Cardiomyopathy.
J Clin Med
; 13(11)2024 May 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38892874
14.
Clinical and genetic yield of familial screening after a sudden unexplained death at a young age.
Kardiol Pol
; 82(4): 382-390, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38493454
15.
Genetic testing for inherited cardiovascular diseases. A position statement of the Polish Cardiac Society endorsed by Polish Society of Human Genetics and Cardiovascular Patient Communities.
Kardiol Pol
; 82(5): 569-593, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38712785
16.
Impact of genetic and clinical factors on dose requirements and quality of anticoagulation therapy in Polish patients receiving acenocoumarol: dosing calculation algorithm.
Pharmacogenet Genomics
; 23(11): 611-8, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24108193
17.
LMNA mutations in Polish patients with dilated cardiomyopathy: prevalence, clinical characteristics, and in vitro studies.
BMC Med Genet
; 14: 55, 2013 May 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-23702046
18.
Cardiovascular involvement and prognosis in Loeys-Dietz syndrome.
Kardiol Pol
; 81(11): 1096-1102, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37823753
19.
Double Heterozygous Pathogenic Variants in the LOX and PKD1 Genes in a 5-Year-Old Patient with Thoracic Aortic Aneurysm and Polycystic Kidney Disease.
Genes (Basel)
; 14(11)2023 Oct 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38002926
20.
Clinical features, etiology, and survival in patients with restrictive cardiomyopathy: A single-center experience.
Kardiol Pol
; 81(12): 1227-1236, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37937352