Found: 36
Select item for more details and to access through your institution.
Coexistence of Marfan syndrome and fibromuscular dysplasia.
- Published in:
- Polish Archives of Internal Medicine, 2024, v. 134, n. 9, p. 1, doi. 10.20452/pamw.16798
- By:
- Publication type:
- Article
Tripeptidyl Peptidase 1 (TPP1) Deficiency in a 36-Year-Old Patient with Cerebellar-Extrapyramidal Syndrome and Dilated Cardiomyopathy.
- Published in:
- Life (2075-1729), 2022, v. 12, n. 1, p. 3, doi. 10.3390/life12010003
- By:
- Publication type:
- Article
Protein Kinase C Alpha Cellular Distribution, Activity, and Proximity with Lamin A/C in Striated Muscle Laminopathies.
- Published in:
- Cells (2073-4409), 2020, v. 9, n. 11, p. 2388, doi. 10.3390/cells9112388
- By:
- Publication type:
- Article
The BAG3 gene variants in Polish patients with dilated cardiomyopathy: four novel mutations and a genotype-phenotype correlation.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Double Heterozygous Pathogenic Variants in the LOX and PKD1 Genes in a 5-Year-Old Patient with Thoracic Aortic Aneurysm and Polycystic Kidney Disease.
- Published in:
- Genes, 2023, v. 14, n. 11, p. 1983, doi. 10.3390/genes14111983
- By:
- Publication type:
- Article
A new c.1621 C>G, p.R541G lamin A/C mutation in a family with DCM and regional wall motion abnormalities (akinesis/dyskinesis): genotype-phenotype correlation.
- Published in:
- Journal of Human Genetics, 2011, v. 56, n. 1, p. 83, doi. 10.1038/jhg.2010.137
- By:
- Publication type:
- Article
A novel truncating variant in the gene in a young woman with hypertrophic cardiomyopathy and variable clinical course in the family.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Variable clinical presentation of glycogen storage disease type IV: from severe hepatosplenomegaly to cardiac insufficiency. Some discrepancies in genetic and biochemical abnormalities.
- Published in:
- 2018
- By:
- Publication type:
- journal article
A novel HCN4 variant related to familial sinus bradycardia, left ventricular noncompaction, and thoracic aortic aneurysm.
- Published in:
- Polish Archives of Internal Medicine, 2021, v. 131, n. 2, p. 70, doi. 10.20452/pamw.15683
- By:
- Publication type:
- Article
A novel HCN4 variant related to familial sinus bradycardia, left ventricular noncompaction, and thoracic aortic aneurysm.
- Published in:
- Polish Archives of Internal Medicine, 2021, v. 131, n. 1, p. 70, doi. 10.20452/pamw.15683
- By:
- Publication type:
- Article
Intrafamilial variability of cardiovascular abnormalities associated with the p.R460H mutation of the TGFBR2 gene.
- Published in:
- Polish Archives of Internal Medicine, 2020, v. 130, n. 7/8, p. 676, doi. 10.20452/pamw.15365
- By:
- Publication type:
- Article
Genetic muscle disorder mimicking atrial arrhythmias with conduction defects requiring pacemaker implantation.
- Published in:
- Polish Archives of Internal Medicine, 2019, v. 129, n. 9, p. 627, doi. 10.20452/pamw.14829
- By:
- Publication type:
- Article
Sudden cardiac arrest in patients without overt heart disease: a limited value of next generation sequencing.
- Published in:
- Polish Archives of Internal Medicine, 2018, v. 128, n. 12, p. 721, doi. 10.20452/pamw.4366
- By:
- Publication type:
- Article
Autosomal recessive transmission of familial nonsyndromic dilated cardiomyopathy due to compound desmoplakin gene mutations.
- Published in:
- Polish Archives of Internal Medicine, 2018, v. 128, n. 12, p. 785, doi. 10.20452/pamw.4365
- By:
- Publication type:
- Article
Novel truncating desmoplakin mutation as a potential cause of sudden cardiac death in a family.
- Published in:
- Polish Archives of Internal Medicine, 2016, v. 126, n. 9, p. 704, doi. 10.20452/pamw.3567
- By:
- Publication type:
- Article
Variants of the Lamin A/C (LMNA) Gene in Non-Valvular Atrial Fibrillation Patients.
- Published in:
- Molecular Diagnosis & Therapy, 2012, v. 16, n. 2, p. 99, doi. 10.1007/BF03256434
- By:
- Publication type:
- Article
Can Circulating Cardiac Biomarkers Be Helpful in the Assessment of LMNA Mutation Carriers?
- Published in:
- Journal of Clinical Medicine, 2020, v. 9, n. 5, p. 1443, doi. 10.3390/jcm9051443
- By:
- Publication type:
- Article
Analysis of De Novo Mutations in Sporadic Cardiomyopathies Emphasizes Their Clinical Relevance and Points to Novel Candidate Genes.
- Published in:
- Journal of Clinical Medicine, 2020, v. 9, n. 2, p. 370, doi. 10.3390/jcm9020370
- By:
- Publication type:
- Article
Spectrum of transthyretin gene mutations and clinical characteristics of Polish patients with cardiac transthyretin amyloidosis.
- Published in:
- Cardiology Journal, 2022, v. 29, n. 6, p. 985, doi. 10.5603/CJ.a2020.0104
- By:
- Publication type:
- Article
Titin-Related Dilated Cardiomyopathy: The Clinical Trajectory and the Role of Circulating Biomarkers in the Clinical Assessment.
- Published in:
- Diagnostics (2075-4418), 2022, v. 12, n. 1, p. 13, doi. 10.3390/diagnostics12010013
- By:
- Publication type:
- Article
A Novel DSP Truncating Variant in a Family with Episodic Myocardial Injury in the Course of Arrhythmogenic Cardiomyopathy—A Possible Role of a Low Penetrance NLRP3 Variant.
- Published in:
- Diagnostics (2075-4418), 2020, v. 10, n. 11, p. 955, doi. 10.3390/diagnostics10110955
- By:
- Publication type:
- Article
A Recurrent Exertional Syncope and Sudden Cardiac Arrest in a Young Athlete with Known Pathogenic p.Arg420Gln Variant in the RYR2 Gene.
- Published in:
- Diagnostics (2075-4418), 2020, v. 10, n. 7, p. 435, doi. 10.3390/diagnostics10070435
- By:
- Publication type:
- Article
Genetic testing for inherited cardiovascular diseases. A position statement of the Polish Cardiac Society endorsed by the Polish Society of Human Genetics and Cardiovascular Patient Communities.
- Published in:
- Polish Heart Journal / Kardiologia Polska, 2024, v. 82, n. 5, p. 570, doi. 10.33963/v.phj.100490
- By:
- Publication type:
- Article
Clinical features, etiology, and survival in patients with restrictive cardiomyopathy: A single-center experience.
- Published in:
- Polish Heart Journal / Kardiologia Polska, 2023, v. 81, n. 12, p. 1227, doi. 10.33963/v.kp.97879
- By:
- Publication type:
- Article
Cardiovascular involvement and prognosis in Loeys-Dietz syndrome.
- Published in:
- Polish Heart Journal / Kardiologia Polska, 2023, v. 81, n. 11, p. 1096, doi. 10.33963/v.kp.97390
- By:
- Publication type:
- Article
Restrictive cardiomyopathy due to novel desmin gene mutation.
- Published in:
- Polish Heart Journal / Kardiologia Polska, 2017, v. 75, n. 7, p. 723, doi. 10.5603/KP.2017.0129
- By:
- Publication type:
- Article
A combination of quinidine/mexiletine reduces arrhythmia in dilated cardiomyopathy in two patients with R814W SCN5A mutation.
- Published in:
- ESC Heart Failure, 2020, v. 7, n. 6, p. 4326, doi. 10.1002/ehf2.12993
- By:
- Publication type:
- Article
Active Lymphocytic Myocarditis Treated with Murine OKT3 Monoclonal Antibody.
- Published in:
- Texas Heart Institute Journal, 2002, v. 29, n. 2, p. 113
- By:
- Publication type:
- Article
Severe Course of Peripartum Cardiomyopathy and Subsequent Recovery in a Patient with a Novel TTN Gene-Truncating Mutation.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Evidence for Troponin C (TNNC1) as a Gene for Autosomal Recessive Restrictive Cardiomyopathy with Fatal Outcome in Infancy.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3241, doi. 10.1002/ajmg.a.37860
- By:
- Publication type:
- Article
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.
- Published in:
- BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0167-0
- By:
- Publication type:
- Article
LMNA mutations in Polish patients with dilated cardiomyopathy: prevalence, clinical characteristics, and in vitro studies.
- Published in:
- BMC Medical Genetics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2350-14-55
- By:
- Publication type:
- Article
Genetic and ultrastructural studies in dilated cardiomyopathy patients: a large deletion in the lamin A/C gene is associated with cardiomyocyte nuclear envelope disruption.
- Published in:
- Basic Research in Cardiology, 2010, v. 105, n. 3, p. 365, doi. 10.1007/s00395-010-0085-4
- By:
- Publication type:
- Article
A different background of arrhythmia in siblings with a positive family history of sudden death at young age.
- Published in:
- 2020
- By:
- Publication type:
- case study
Coincidence of Andersen-Tawil syndrome and Marfan syndrome: A case report.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Baseline Clinical Characteristics and Midterm Prognosis of STE-ACS and NSTE-ACS Patients with Normal Coronary Arteries.
- Published in:
- Annals of Noninvasive Electrocardiology, 2009, v. 14, n. 1, p. 4, doi. 10.1111/j.1542-474X.2008.00267.x
- By:
- Publication type:
- Article