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Titin Truncating Variants in Dilated Cardiomyopathy - Prevalence and Genotype-Phenotype Correlations

PloS one, 2017-01, Vol.12 (1), p.e0169007-e0169007

2017

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Does p.Q247X in TRIM63 cause human hypertrophic cardiomyopathy?

Circulation research, 2014-01, Vol.114 (2), p.e2-e5

2014

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Impact of cardiac magnetic resonance on the diagnosis of hypertrophic cardiomyopathy - a 10-year experience with over 1000 patients

European radiology, 2021-03, Vol.31 (3), p.1194-1205

2021

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Sudden cardiac death risk in hypertrophic cardiomyopathy: comparison between echocardiography and magnetic resonance imaging

Scientific reports, 2021-03, Vol.11 (1), p.7146-7146, Article 7146

2021

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The BAG3 gene variants in Polish patients with dilated cardiomyopathy: four novel mutations and a genotype-phenotype correlation

Journal of translational medicine, 2014-07, Vol.12 (1), p.192-192, Article 192

2014

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Influenza vaccination in secondary prevention from coronary ischaemic events in coronary artery disease: FLUCAD study

European heart journal, 2008-06, Vol.29 (11), p.1350-1358

2008

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A novel truncating variant in the LAMP2 gene in a young woman with hypertrophic cardiomyopathy and variable clinical course in the family

Archives of medical science, 2020, Vol.16 (6), p.1464-1469

2020

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Evidence for troponin C (TNNC1) as a gene for autosomal recessive restrictive cardiomyopathy with fatal outcome in infancy

American journal of medical genetics. Part A, 2016-12, Vol.170A (12), p.3241-3248

2016

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Clinical and genetic yield of familial screening after a sudden unexplained death at a young age

Kardiologia polska, 2024, Vol.82 (4), p.382

2024

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Analysis of De Novo Mutations in Sporadic Cardiomyopathies Emphasizes Their Clinical Relevance and Points to Novel Candidate Genes

Journal of clinical medicine, 2020-01, Vol.9 (2), p.370

2020

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Genome-wide association analysis in dilated cardiomyopathy reveals two new players in systolic heart failure on chromosomes 3p25.1 and 22q11.23

European heart journal, 2021-05, Vol.42 (20), p.2000-2011

2021

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Can Circulating Cardiac Biomarkers Be Helpful in the Assessment of LMNA Mutation Carriers?

Journal of clinical medicine, 2020-05, Vol.9 (5), p.1443

2020

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Impact of genetic and clinical factors on dose requirements and quality of anticoagulation therapy in Polish patients receiving acenocoumarol: dosing calculation algorithm

Pharmacogenetics and genomics, 2013-11, Vol.23 (11), p.611-618

2013

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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

Diagnostics (Basel), 2020-11, Vol.10 (11), p.955

2020

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ESC EORP Cardiomyopathy Registry: real‐life practice of genetic counselling and testing in adult cardiomyopathy patients

ESC Heart Failure, 2020-10, Vol.7 (5), p.3013-3021

2020

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A MYH7 variant in a five-generation-family with hypertrophic cardiomyopathy

Frontiers in genetics, 2024-02, Vol.15, p.1306333

2024

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Genetic and ultrastructural studies in dilated cardiomyopathy patients: a large deletion in the lamin A/C gene is associated with cardiomyocyte nuclear envelope disruption

Basic research in cardiology, 2010-05, Vol.105 (3), p.365-377

2010

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LMNA mutations in Polish patients with dilated cardiomyopathy: prevalence, clinical characteristics, and in vitro studies

BMC medical genetics, 2013-05, Vol.14 (1), p.55-55, Article 55

2013

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Lamin missense mutations—the spectrum of phenotype variability is increasing

European journal of heart failure, 2018-10, Vol.20 (10), p.1413-1416

2018

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Variants of the Lamin A/C (LMNA) Gene in Non-Valvular Atrial Fibrillation Patients: A Possible Pathogenic Role of the Thr528Met Mutation

Molecular diagnosis & therapy, 2012-04, Vol.16 (2), p.99-107

2012

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Homozygous truncating mutation in NRAP gene identified by whole exome sequencing in a patient with dilated cardiomyopathy

Scientific reports, 2017-06, Vol.7 (1), p.3362-5, Article 3362

2017

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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 medical genetics, 2018-06, Vol.19 (1), p.94-94, Article 94

2018

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Protein Kinase C Alpha Cellular Distribution, Activity, and Proximity with Lamin A/C in Striated Muscle Laminopathies

Cells (Basel, Switzerland), 2020-11, Vol.9 (11), p.2388

2020

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Spectrum of transthyretin gene mutations and clinical characteristics of Polish patients with cardiac transthyretin amyloidosis

Cardiology journal, 2022-12, Vol.29 (6), p.985-993

2022

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Titin Truncating Variants in Dilated Cardiomyopathy - Prevalence and Genotype-Phenotype Correlations

Does p.Q247X in TRIM63 cause human hypertrophic cardiomyopathy?

Impact of cardiac magnetic resonance on the diagnosis of hypertrophic cardiomyopathy - a 10-year experience with over 1000 patients

Sudden cardiac death risk in hypertrophic cardiomyopathy: comparison between echocardiography and magnetic resonance imaging

The BAG3 gene variants in Polish patients with dilated cardiomyopathy: four novel mutations and a genotype-phenotype correlation

Influenza vaccination in secondary prevention from coronary ischaemic events in coronary artery disease: FLUCAD study

A novel truncating variant in the LAMP2 gene in a young woman with hypertrophic cardiomyopathy and variable clinical course in the family

Evidence for troponin C (TNNC1) as a gene for autosomal recessive restrictive cardiomyopathy with fatal outcome in infancy

Clinical and genetic yield of familial screening after a sudden unexplained death at a young age

Analysis of De Novo Mutations in Sporadic Cardiomyopathies Emphasizes Their Clinical Relevance and Points to Novel Candidate Genes

Genome-wide association analysis in dilated cardiomyopathy reveals two new players in systolic heart failure on chromosomes 3p25.1 and 22q11.23

Can Circulating Cardiac Biomarkers Be Helpful in the Assessment of LMNA Mutation Carriers?

Impact of genetic and clinical factors on dose requirements and quality of anticoagulation therapy in Polish patients receiving acenocoumarol: dosing calculation algorithm

Coronary Computed Tomographic Angiography for Prediction of Procedural and Intermediate Outcome of Bypass Grafting to Left Anterior Descending Artery Occlusion With Failed Visualization on Conventional Angiography

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

ESC EORP Cardiomyopathy Registry: real‐life practice of genetic counselling and testing in adult cardiomyopathy patients

A MYH7 variant in a five-generation-family with hypertrophic cardiomyopathy

Genetic and ultrastructural studies in dilated cardiomyopathy patients: a large deletion in the lamin A/C gene is associated with cardiomyocyte nuclear envelope disruption

LMNA mutations in Polish patients with dilated cardiomyopathy: prevalence, clinical characteristics, and in vitro studies

Lamin missense mutations—the spectrum of phenotype variability is increasing

Variants of the Lamin A/C (LMNA) Gene in Non-Valvular Atrial Fibrillation Patients: A Possible Pathogenic Role of the Thr528Met Mutation

Homozygous truncating mutation in NRAP gene identified by whole exome sequencing in a patient with dilated cardiomyopathy

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

Protein Kinase C Alpha Cellular Distribution, Activity, and Proximity with Lamin A/C in Striated Muscle Laminopathies

Spectrum of transthyretin gene mutations and clinical characteristics of Polish patients with cardiac transthyretin amyloidosis

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