List of works - Maria Franaszczyk

A combination of quinidine/mexiletine reduces arrhythmia in dilated cardiomyopathy in two patients with R814W SCN5A mutation

scientific article published on 20 October 2020

A different background of arrhythmia in siblings with a positive family history of sudden death at young age

scientific article published on 14 October 2019

A new missense mutation, p.Arg719Leu, of the beta-myosin heavy chain gene in a patient with familial hypertrophic cardiomyopathy

scientific article published in February 2017

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

scientific article published on 09 October 2019

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

scientific article published on 3 April 2015

A young patient with left ventricular hypertrophy and accidentally discovered aortic dissection: hypertensive heart disease or hypertrophic cardiomyopathy?

scientific article published on 17 December 2019

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

scientific article published on 29 January 2020

Angiotensin-converting enzyme polymorphism and completed suicide: an association in Caucasians and evidence for a link with a method of self-injury

scientific article

Association between variants on chromosome 4q25, 16q22 and 1q21 and atrial fibrillation in the Polish population

scientific article

Autosomal recessive, familial, isolated dilated cardiomyopathy due to compound desmoplakin gene mutations

article

BAG3-related myopathy, polyneuropathy and cardiomyopathy with long QT syndrome

scientific article published on 6 November 2015

Clinical Phenotypes and Prognosis of Dilated Cardiomyopathy Caused by Truncating Variants in the TTN Gene

scientific article published on 23 September 2020

Dilated Cardiomyopathy Due to BLC2-Associated Athanogene 3 (BAG3) Mutations

scientific article published on 01 November 2018

Does p.Q247X in TRIM63 cause human hypertrophic cardiomyopathy?

scientific article published in January 2014

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

scientific article

Familial thoracic aortic aneurysms and dissections (FTAAD)

scientific article

Genetic muscle disorder mimicking atrial arrhythmias with conduction defects requiring pacemaker implantation

scientific article published on 13 May 2019

HLA DQ2 HAPLOTYPE, EARLY ONSET OF GRAVES DISEASE, AND POSITIVE FAMILY HISTORY OF AUTOIMMUNE DISORDERS ARE RISK FACTORS FOR DEVELOPING CELIAC DISEASE IN PATIENTS WITH GRAVES DISEASE

scientific article published on 29 June 2015

Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations.

scientific article published on 4 May 2016

Novel truncating desmoplakin mutation as a potential cause of sudden cardiac death in a family.

scientific article

Polymorphism of 9p21.3 locus is associated with 5-year survival in high-risk patients with myocardial infarction

scientific article

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.

scientific article published on 5 June 2018

Restrictive cardiomyopathy due to novel desmin gene mutation

scientific article

Severe Course of Peripartum Cardiomyopathy and Subsequent Recovery in a Patient with a Novel TTN Gene-Truncating Mutation

article

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

scientific article published on 13 August 2020

The 4q25, 1q21, and 16q22 polymorphisms and recurrence of atrial fibrillation after pulmonary vein isolation

scientific article published on 2 February 2016

The 9p21 polymorphism is linked with atrial fibrillation during acute phase of ST-segment elevation myocardial infarction.

scientific article published on 28 November 2015

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

scientific article

The rs12526453 Polymorphism in an Intron of the PHACTR1 Gene and Its Association with 5-Year Mortality of Patients with Myocardial Infarction

scientific article published on 18 June 2015

The rs9982601 polymorphism of the region between the SLC5A3/MRPS6 and KCNE2 genes associated with a prevalence of myocardial infarction and subsequent long-term mortality

article

Thyroid stimulating hormone receptor (TSHR) intron 1 variants are major risk factors for Graves' disease in three European Caucasian cohorts.

scientific article

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

scientific article

Transthyretin-related familial amyloid polyneuropathy (ATTR-FAP) in Poland - genetic and clinical presentation

scientific article published on 29 December 2020

Value of multilocus genetic risk score for atrial fibrillation in end-stage kidney disease patients in a Polish population.

scientific article published on 18 June 2018

X-linked retinoschisis--clinical manifestation, genetic and electrophysiological analysis of three generations with p.Arg197Cys mutation of RS1 gene

scientific article published in January 2014

[Charcot-Marie-Tooth disorders with autosomal recessive inheritance. Search for the molecular diagnostics model]

scientific article published on 01 April 2009

List of works by Maria Franaszczyk

A combination of quinidine/mexiletine reduces arrhythmia in dilated cardiomyopathy in two patients with R814W SCN5A mutation

A different background of arrhythmia in siblings with a positive family history of sudden death at young age

A new missense mutation, p.Arg719Leu, of the beta-myosin heavy chain gene in a patient with familial hypertrophic cardiomyopathy

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

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

A young patient with left ventricular hypertrophy and accidentally discovered aortic dissection: hypertensive heart disease or hypertrophic cardiomyopathy?

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

Angiotensin-converting enzyme polymorphism and completed suicide: an association in Caucasians and evidence for a link with a method of self-injury

Association between variants on chromosome 4q25, 16q22 and 1q21 and atrial fibrillation in the Polish population

Autosomal recessive, familial, isolated dilated cardiomyopathy due to compound desmoplakin gene mutations

BAG3-related myopathy, polyneuropathy and cardiomyopathy with long QT syndrome

Clinical Phenotypes and Prognosis of Dilated Cardiomyopathy Caused by Truncating Variants in the TTN Gene

Dilated Cardiomyopathy Due to BLC2-Associated Athanogene 3 (BAG3) Mutations

Does p.Q247X in TRIM63 cause human hypertrophic cardiomyopathy?

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

Familial thoracic aortic aneurysms and dissections (FTAAD)

Genetic muscle disorder mimicking atrial arrhythmias with conduction defects requiring pacemaker implantation

HLA DQ2 HAPLOTYPE, EARLY ONSET OF GRAVES DISEASE, AND POSITIVE FAMILY HISTORY OF AUTOIMMUNE DISORDERS ARE RISK FACTORS FOR DEVELOPING CELIAC DISEASE IN PATIENTS WITH GRAVES DISEASE

Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations.

Novel truncating desmoplakin mutation as a potential cause of sudden cardiac death in a family.

Polymorphism of 9p21.3 locus is associated with 5-year survival in high-risk patients with myocardial infarction

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.

Restrictive cardiomyopathy due to novel desmin gene mutation

Severe Course of Peripartum Cardiomyopathy and Subsequent Recovery in a Patient with a Novel TTN Gene-Truncating Mutation

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

The 4q25, 1q21, and 16q22 polymorphisms and recurrence of atrial fibrillation after pulmonary vein isolation

The 9p21 polymorphism is linked with atrial fibrillation during acute phase of ST-segment elevation myocardial infarction.

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

The rs12526453 Polymorphism in an Intron of the PHACTR1 Gene and Its Association with 5-Year Mortality of Patients with Myocardial Infarction

The rs9982601 polymorphism of the region between the SLC5A3/MRPS6 and KCNE2 genes associated with a prevalence of myocardial infarction and subsequent long-term mortality

Thyroid stimulating hormone receptor (TSHR) intron 1 variants are major risk factors for Graves' disease in three European Caucasian cohorts.

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

Transthyretin-related familial amyloid polyneuropathy (ATTR-FAP) in Poland - genetic and clinical presentation

Value of multilocus genetic risk score for atrial fibrillation in end-stage kidney disease patients in a Polish population.

X-linked retinoschisis--clinical manifestation, genetic and electrophysiological analysis of three generations with p.Arg197Cys mutation of RS1 gene

[Charcot-Marie-Tooth disorders with autosomal recessive inheritance. Search for the molecular diagnostics model]