A. Krebsova

发表

SCA2 trinucleotide expansion in German SCA patients

S. Pulst, K. Wessel, L. Schöls, 1997, Neurogenetics.

Alu‐mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient

T. Kalina, S. Kmoch, P. Dušek, 2019, American journal of medical genetics. Part A.

Danon disease is an underdiagnosed cause of advanced heart failure in young female patients: a LAMP2 flow cytometric study

T. Kalina, Ondřej Pelák, J. Kautzner, 2020, ESC heart failure.

LAMP2 exon‐copy number variations in Danon disease heterozygote female probands: Infrequent or underdetected?

T. Kalina, Ondřej Pelák, S. Kmoch, 2018, American journal of medical genetics. Part A.

Desminopathy: Novel Desmin Variants, a New Cardiac Phenotype, and Further Evidence for Secondary Mitochondrial Dysfunction

V. Melenovský, M. Macek, J. Zeman, 2020, Journal of clinical medicine.

(Complex approach towards patients with hypertrophic cardiomyopathy and indications to genetic testing)

J. Kautzner, M. Macek, J. Veselka, 2020 .

Novel LOX Variants in Five Families with Aortic/Arterial Aneurysm and Dissection with Variable Connective Tissue Findings

N. Samani, T. Webb, M. Kempers, 2021, International journal of molecular sciences.

(Diagnosis of laminopathy with predominant cardiac involvement during pretransplant assessment - a case report with a review of risk stratification and disease management of laminopathies)

J. Kautzner, V. Melenovský, M. Macek, 2022, Cor et Vasa.

(Outcomes of pregnancy in pre-existing cardiomyopathy and after heart transplantation)

J. Kautzner, V. Melenovský, A. Pařízek, 2022, Cor et Vasa.

(Fukutinopathy as a rare cause of dilated cardiomyopathy and subclinical skeletal myopathy - a case report and review of cardiac involvement in skeletal muscle disease)

J. Kautzner, V. Melenovský, S. Kmoch, 2022, Cor et Vasa.

Distribution of CFTR mutations in the Czech population: positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles and relevance for related/derived populations.

M. Macek, M. Turnovec, Miroslava Balaščáková, 2013, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

High positive predictive value of PAPP-A for acute coronary syndrome diagnosis in heparin-naïve patients

M. Macek, J. Veselka, P. Hájek, 2012, Journal of Thrombosis and Thrombolysis.

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

J. Pirk, M. Laboš, J. Maly, 2021, Cor et Vasa.

SCA6 is caused by moderate CAG expansion in the alpha1A-voltage-dependent calcium channel gene.

T. Klockgether, O. Riess, M. Macek, 1997, Human molecular genetics.

Isolated aneurysmal disease as an underestimated finding in individuals with JAG1 pathogenic variants

M. Macek, B. Loeys, A. Van Berendoncks, 2022, Human mutation.

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

J. Oldenburg, A. Fregin, S. Rost, 2002, Blood.

Association of human aging with a functional variant of klotho

I. Mian, L. Fried, D. Arking, 2002, Proceedings of the National Academy of Sciences of the United States of America.

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

X. Estivill, J. Zieleński, T. Dörk, 2000, Human Genetics.

[Chromosome Y microdeletions in Czech men with severe reproductive disorders].

M. Macek, M. Machatkova, A. Krebsova, 2003, Casopis lekaru ceskych.

Genotype/phenotype correlation in autosomal recessive lamellar ichthyosis.

V. Wiebe, H. Hennies, A. Reis, 1998, American journal of human genetics.

Assignment of the gene for a new hereditary nail disorder, isolated congenital nail dysplasia, to chromosome 17p13.

H. Hennies, A. Reis, H. Hamm, 2000, The Journal of investigative dermatology.

Fine mapping of autosomal dominant nonsyndromic hearing impairment DFNA21 to chromosome 6p24.1‐22.3

C. Cremers, H. Kremer, F. Cremers, 2005, American journal of medical genetics. Part A.

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

Emmanuel Messas, Luc Mertens, Dmytro Zerbino, 2017, Front. Physiol..

Premature chromosome condensation in humans associated with microcephaly and mental retardation: a novel autosomal recessive condition.

K. Sperling, D. Schindler, H. Tönnies, 2002, American journal of human genetics.

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

C. Cremers, F. Cremers, A. Reis, 2000, Clinical otolaryngology and allied sciences.

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

M. Corey, X. Estivill, L. Tsui, 1999, Nature Genetics.

Homozygosity Mapping of a Second Gene Locus for Hereditary Combined Deficiency of Vitamin K-Dependent Clotting Factors (FMFD) to Chromosome 16

J. Oldenburg, A. Fregin, S. Rost, 2004 .

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

M. Krawczak, A. Hamosh, K. Sperling, 1997, Human Genetics.

QF-PCR Examination of Parental and Meiotic Origin of Trisomy 21 in Central and Eastern Europe

K. Sperling, M. Macek, M. Machatkova, 2005, The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society.

Identification, by homozygosity mapping, of a novel locus for autosomal recessive congenital ichthyosis on chromosome 17p, and evidence for further genetic heterogeneity.

H. Hennies, A. Reis, P. Frossard, 2001, American journal of human genetics.

Post-mortem genetic testing in sudden cardiac death and genetic screening of relatives at risk: lessons learned from a Czech pilot multidisciplinary study

J. Kautzner, P. Tomášek, Jakub Stocek, 2023, International Journal of Legal Medicine.

(Postmortem genetic testing in sudden cardiac death victims and genetic screening of relatives at risk in the Czech Republic)

J. Kautzner, P. Tomášek, M. Kulvajtová, 2023, Cor et Vasa.