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Identification, by Homozygosity Mapping, of a Novel Locus for Autosomal Recessive Congenital Ichthyosis on Chromosome 17p, and Evidence for Further Genetic Heterogeneity

American journal of human genetics, 2001-07, Vol.69 (1), p.216-222

2001

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Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene : a cystic fibrosis mutation of slavic origin common in Central and East Europe

Human genetics, 2000-03, Vol.106 (3), p.259-268

2000

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Genotype/Phenotype Correlation in Autosomal Recessive Lamellar Ichthyosis

American journal of human genetics, 1998-05, Vol.62 (5), p.1052-1061

1998

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Assignment of the Gene for a New Hereditary Nail Disorder, Isolated Congenital Nail Dysplasia, to Chromosome 17p13

Journal of investigative dermatology, 2000-10, Vol.115 (4), p.664-667

2000

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Copy number variation analysis in bicuspid aortic valve-related aortopathy identifies TBX20 as a contributing gene

European journal of human genetics : EJHG, 2019-07, Vol.27 (7), p.1033-1043

2019

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Catheter ablation of ventricular arrhythmias in arrhythmogenic cardiomyopathy - comparison of different approaches and results of genetic testing

European heart journal, 2023-11, Vol.44 (Supplement_2)

2023

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SCA2 trinucleotide expansion in German SCA patients

Neurogenetics, 1997-05, Vol.1 (1), p.59-64

1997

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Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13

Nature genetics, 1999-06, Vol.22 (2), p.128-129

1999

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P5610Inflammatory response after ExoVasc personalized external aortic root support (PEARS) procedure in patients with Marfan syndrome or non-Marfan genetic aortopathy

European heart journal, 2019-10, Vol.40 (Supplement_1)

2019

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Mutation in a non-desmosomal gene is associated with poor outcome of endo-epicardial ventricular tachycardia ablation in patients with nonischaemic cardiomyopathy

European heart journal, 2021-10, Vol.42 (Supplement_1)

2021

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Possible association of the allele status of the CS.7/HhaI polymorphism 5' of the CFTR gene with postnatal female survival

Human genetics, 1997-05, Vol.99 (5), p.565-572

1997

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20. A high frequency of the CFTRdel21kb mutation in the Czech population raises the total detection rate to over 95

Netherlands journal of medicine, 1999-06, Vol.54, p.S28

KREBSOVA, A

1999

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Comparison of variant detection rate in genes between two cohorts of Czech living patients versus victims of sudden cardiac death with clinical / post mortem diagnosis of non-ischemic cardiomyopathy

European heart journal, 2020-11, Vol.41 (Supplement_2)

2020

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Association of Human Aging with a Functional Variant of Klotho

Proceedings of the National Academy of Sciences - PNAS, 2002-01, Vol.99 (2), p.856-861

2002

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P1817Non-truncating Filamin C variants represent disease-causing mutations in dilated cardiomyopathy

European heart journal, 2018-08, Vol.39 (suppl_1)

2018

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5162Novel insights into desminopathy in the era of next generation sequencing

European heart journal, 2019-10, Vol.40 (Supplement_1)

2019

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Concealed cardiomyopathy as a frequent cause of idiopathic ventricular fibrillation in a representative Czech cohort of survivors of sudden cardiac arrest (SCA)

Europace (London, England), 2021-05, Vol.23 (Supplement_3)

2021

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Outcomes of post mortem genetic diagnosis in SCD victims and primary prevention of cardiac arrest in relatives: a nationwide multidisciplinary and multicentric collaboration in the Czechia

European journal of preventive cardiology, 2021-05, Vol.28 (Supplement_1)

2021

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Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor

Frontiers in physiology, 2017-06, Vol.8, p.400-400

2017

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3946Comparison of genetic signature of isolated left ventricular non-compaction cardiomyopathy and familial dilated cardiomyopathy as assessed by whole exome sequencing

European heart journal, 2017-08, Vol.38 (suppl_1)

2017

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P1107First results of molecular autopsy examinations in sudden cardiac death drawn from nationwide multidisciplinary and multicentric collaboration in the Czech Republic

Europace (London, England), 2020-06, Vol.22 (Supplement_1)

2020

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1222Characteristics of an arrhythmogenic substrate and results of catheter ablation of ventricular arrhythmias in patients with desmoplakin mutation associated arrhythmogenic cardiomyopathy

Europace (London, England), 2017-06, Vol.19 (suppl_3), p.iii253-iii253

2017

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Non-syndromic autosomal dominant progressive non-specific mid-frequency sensorineural hearing impairment with childhood to late adolescence onset (DFNA21)

Clinical otolaryngology, 2000-02, Vol.25 (1), p.45-54

2000

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Homozygosity mapping of a second gene locus for hereditary combined deficiency of vitamin K–dependent clotting factors to the centromeric region of chromosome 16

Blood, 2002-11, Vol.100 (9), p.3229-3232

2002

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Premature Chromosome Condensation in Humans Associated with Microcephaly and Mental Retardation: A Novel Autosomal Recessive Condition

American journal of human genetics, 2002-04, Vol.70 (4), p.1015-1022

2002

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Identification, by Homozygosity Mapping, of a Novel Locus for Autosomal Recessive Congenital Ichthyosis on Chromosome 17p, and Evidence for Further Genetic Heterogeneity

Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene : a cystic fibrosis mutation of slavic origin common in Central and East Europe

Genotype/Phenotype Correlation in Autosomal Recessive Lamellar Ichthyosis

Assignment of the Gene for a New Hereditary Nail Disorder, Isolated Congenital Nail Dysplasia, to Chromosome 17p13

Copy number variation analysis in bicuspid aortic valve-related aortopathy identifies TBX20 as a contributing gene

Catheter ablation of ventricular arrhythmias in arrhythmogenic cardiomyopathy - comparison of different approaches and results of genetic testing

SCA2 trinucleotide expansion in German SCA patients

Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13

P5610Inflammatory response after ExoVasc personalized external aortic root support (PEARS) procedure in patients with Marfan syndrome or non-Marfan genetic aortopathy

Mutation in a non-desmosomal gene is associated with poor outcome of endo-epicardial ventricular tachycardia ablation in patients with nonischaemic cardiomyopathy

Possible association of the allele status of the CS.7/HhaI polymorphism 5' of the CFTR gene with postnatal female survival

20. A high frequency of the CFTRdel21kb mutation in the Czech population raises the total detection rate to over 95

Comparison of variant detection rate in genes between two cohorts of Czech living patients versus victims of sudden cardiac death with clinical / post mortem diagnosis of non-ischemic cardiomyopathy

Association of Human Aging with a Functional Variant of Klotho

P1817Non-truncating Filamin C variants represent disease-causing mutations in dilated cardiomyopathy

5162Novel insights into desminopathy in the era of next generation sequencing

Concealed cardiomyopathy as a frequent cause of idiopathic ventricular fibrillation in a representative Czech cohort of survivors of sudden cardiac arrest (SCA)

Outcomes of post mortem genetic diagnosis in SCD victims and primary prevention of cardiac arrest in relatives: a nationwide multidisciplinary and multicentric collaboration in the Czechia

Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor

3946Comparison of genetic signature of isolated left ventricular non-compaction cardiomyopathy and familial dilated cardiomyopathy as assessed by whole exome sequencing

P1107First results of molecular autopsy examinations in sudden cardiac death drawn from nationwide multidisciplinary and multicentric collaboration in the Czech Republic

1222Characteristics of an arrhythmogenic substrate and results of catheter ablation of ventricular arrhythmias in patients with desmoplakin mutation associated arrhythmogenic cardiomyopathy

Non-syndromic autosomal dominant progressive non-specific mid-frequency sensorineural hearing impairment with childhood to late adolescence onset (DFNA21)

Homozygosity mapping of a second gene locus for hereditary combined deficiency of vitamin K–dependent clotting factors to the centromeric region of chromosome 16

Premature Chromosome Condensation in Humans Associated with Microcephaly and Mental Retardation: A Novel Autosomal Recessive Condition

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