Search Results - "Krebsova, A" :: K.UTB vyhledávací portál | TBU Library Retrieval Portal

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

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

by Zielenski, Julian, Bal, Jerzy, Cutting, Garry R, Macek, Milan, Palacio, Ana, Ferec, Claude, Larriba, Sara, Marshall, Bruce C, Krebsova, Alice, Markiewicz, Danuta, Casals, Teresa, Claustres, Mirreille, Durie, Peter, Tsui, Lap-Chee, Corey, Mary, Langfelder-Schwind, Elinor, Rozmahel, Richard, DeCelie-Germana, J, Nowakowska, Aleksandra, Mercier, Bernard, Estivill, Xavier, Aznarez, Isabel
Published in Nature genetics (01.06.1999)

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

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

by Rafaj, A, Peichl, P, Wichterle, D, Stojadinovic, P, Cihak, R, Krebsova, A, Kautzner, J
Published in European heart journal (09.11.2023)

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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

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

by Kockova, R, Maly, J, Krebsova, A, Labos, M, Pirk, J
Published in European heart journal (01.10.2019)

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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

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

by Peichl, P, Krebsova, A, Wichterle, D, Piherova, L, Norambuena, P, Stranecky, V, Kmoch, S, Macek, M, Cihak, R, Kautzner, J
Published in European heart journal (12.10.2021)

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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

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

by Borisincova, E, Votypka, P, Rucklova, K, Pilin, A, Kulvajtova, M, Pohlova Kucerova, S, Tavacova, T, Kubanek, M, Petrkova, J, Dobias, M, Tomasek, P, Macek Jr, M, Janousek, J, Krebsova, A, Kautzner, J
Published in European heart journal (01.11.2020)

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

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

by Nedvedova, T, Kubanek, M, Piherova, L, Krebsova, A, Palecek, T, Chaloupka, A, Grochova, I, Krejci, J, Sikora, J, Kmoch, S, Melenovsky, V, Kautzner, J
Published in European heart journal (01.08.2018)

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

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

by Kubanek, M, Schimerova, T, Piherova, L, Krebsova, A, Hansikova, H, Zeman, J, Palecek, T, Houstek, J, Zamecnik, J, Macek Jr, M, Ridzon, P, Stranecky, V, Kmoch, S, Melenovsky, V, Kautzner, J
Published in European heart journal (01.10.2019)

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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)

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

by Krebsova, A, Votypka, P, Peldova, P, Haskova, J, Tavacova, T, Peichl, P, Segetova, M, Roubicek, T, Vancura, V, Kubus, P, Sramko, M, Macek Jr, M, Zoubkova, V, Janousek, J, Kautzner, J
Published in Europace (London, England) (24.05.2021)

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

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

by Gillis, Elisabeth, Kumar, Ajay A, Luyckx, Ilse, Preuss, Christoph, Cannaerts, Elyssa, van de Beek, Gerarda, Wieschendorf, Björn, Alaerts, Maaike, Bolar, Nikhita, Vandeweyer, Geert, Meester, Josephina, Wünnemann, Florian, Gould, Russell A, Zhurayev, Rustam, Zerbino, Dmytro, Mohamed, Salah A, Mital, Seema, Mertens, Luc, Björck, Hanna M, Franco-Cereceda, Anders, McCallion, Andrew S, Van Laer, Lut, Verhagen, Judith M A, van de Laar, Ingrid M B H, Wessels, Marja W, Messas, Emmanuel, Goudot, Guillaume, Nemcikova, Michaela, Krebsova, Alice, Kempers, Marlies, Salemink, Simone, Duijnhouwer, Toon, Jeunemaitre, Xavier, Albuisson, Juliette, Eriksson, Per, Andelfinger, Gregor, Dietz, Harry C, Verstraeten, Aline, Loeys, Bart L
Published in Frontiers in physiology (13.06.2017)

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

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

by Kunst, H., Marres, H., Huygen, P., Van Duijnhoven, G., Krebsova, A., Van Der Velde, S., Reis, A., Cremers, F., Cremers, C.
Published in Clinical otolaryngology (01.02.2000)

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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

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

by Kubanek, M., Krebsova, A., Piherova, L., Stranecky, V., Macek Jr, M., Kockova, R., Palecek, T., Malek, F., Melenovsky, V., Kmoch, S., Kautzner, J.
Published in European heart journal (01.08.2017)

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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

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

by Krebsova, A, Votypka, P, Peldova, P, Rucklova, K, Pilin, A, Kulvajtova, M, Pohlova -Kucerova, S, Blankova, A, Tavacova, T, Petrkova, J, Tomasek, P, Macek Sr, M, Macek Jr, M, Janousek, J, Kautzner, J
Published in Europace (London, England) (01.06.2020)

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601Genetic testing identified arrhythmogenic cardiomyopathy with predominant left ventricular involvement in a cohort of patients with clinical diagnosis of familiar dilated cardiomyopathy

601Genetic testing identified arrhythmogenic cardiomyopathy with predominant left ventricular involvement in a cohort of patients with clinical diagnosis of familiar dilated cardiomyopathy

by Krebsova, A., Kubanek, M., Piherova, L., Norambuena, P., Peichl, P., Kmoch, S., Macek Sr, M., Macek Jr, M., Kautzner, J.
Published in Europace (London, England) (01.06.2017)

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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

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

by Peichl, P., Krebsova, A., Wichterle, D., Kubanek, M., Cihak, R., Yamagata, K., Aldhoon, B., Piherova, L., Norambuena, P., Stranecky, V., Kmoch, S., Macek, M., Kautzner, J.
Published in Europace (London, England) (01.06.2017)

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Association of Human Aging with a Functional Variant of Klotho

Association of Human Aging with a Functional Variant of Klotho

by Arking, Dan E., Krebsova, Alice, Macek, Milan, Macek, Milan, Arking, Albert, Mian, I. Saira, Fried, Linda, Hamosh, Ada, Dey, Srabani, McIntosh, Iain, Dietz, Harry C.
Published in Proceedings of the National Academy of Sciences - PNAS (22.01.2002)

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Pregnancy-associated plasma protein A and proform eosinophilic major basic protein in the detection of different types of coronary artery disease

Pregnancy-associated plasma protein A and proform eosinophilic major basic protein in the detection of different types of coronary artery disease

by Hájek, P, Macek, M, Hladíková, M, Houbová, B, Alan, D, Durdil, V, Fiedler, J, Malý, M, Ostádal, P, Veselka, J, Krebsová, A
Published in Physiological research (2008)

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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

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

by DÖRK, T, MACEK, M. JR, ZEMKOVA, D, GINTER, E, PETROVA, N. V, IVASCHENKO, T, BARANOV, V, WITT, M, POGORZELSKI, A, BAL, J, ZEKANOWSKY, C, WAGNER, K, MEKUS, F, STUHRMANN, M, BAUER, I, SEYDEWITZ, H. H, NEUMANN, T, JAKUBICZKA, S, KRAUS, C, THAMM, B, NECHIPORENKO, M, LIVSHITS, L, MOSSE, N, TÜMMLER, B, TSUKERMAN, G, KADASI, L, RAVNIK-GLAVAC, M, GLAVAC, D, KOMEL, R, VOUK, K, KUCINSKAS, V, KRUMINA, A, TEDER, M, KOCHEVA, S, TZOUNTZOURIS, J, EFREMOV, G. D, ONAY, T, KIRDAR, B, MALONE, G, SCHWARZ, M, ZHAOQING ZHOU, FRIEDMAN, K. J, CARLES, S, CLAUSTRES, M, BOZON, D, CASALS, T, VERLINGUE, C, FEREC, C, TZETIS, M, KANAVAKIS, E, CUPPENS, H, BOMBIERI, C, PIGNATTI, P. F, SANGIUOLO, F, JORDANOVA, A, KUSIC, J, KREBSOVA, A, KOUDOVA, M, SAKMARYOVA, I. SR, VAVROVA, V
Published in Human genetics (01.03.2000)

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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

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

by Krebsová, Alice, Küster, Wolfgang, Lestringant, Gilles G., Schulze, Bernt, Hinz, Britta, Frossard, Philippe M., Reis, André, Hennies, Hans Christian
Published in American journal of human genetics (01.07.2001)

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Genotype/Phenotype Correlation in Autosomal Recessive Lamellar Ichthyosis

Genotype/Phenotype Correlation in Autosomal Recessive Lamellar Ichthyosis

by Hennies, Hans Christian, Küster, Wolfgang, Wiebe, Victor, Krebsová, Alice, Reis, André
Published in American journal of human genetics (01.05.1998)

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

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

by Gillis, Elisabeth, Kumar, Ajay A, Luyckx, Ilse, Preuss, Christoph, Cannaerts, Elyssa, van de Beek, Gerarda, Wieschendorf, Björn, Alaerts, Maaike, Bolar, Nikhita, Vandeweyer, Geert, Meester, Josephina, Wünnemann, Florian, Gould, Russell A, Zhurayev, Rustam, Zerbino, Dmytro, Mohamed, Salah A, Mital, Seema, Mertens, Luc, Björck, Hanna M, Franco-Cereceda, Anders, McCallion, Andrew S, Van Laer, Lut, Verhagen, Judith M A, van de Laar, Ingrid M B H, Wessels, Marja W, Messas, Emmanuel, Goudot, Guillaume, Nemcikova, Michaela, Krebsova, Alice, Kempers, Marlies, Salemink, Simone, Duijnhouwer, Toon, Jeunemaitre, Xavier, Albuisson, Juliette, Eriksson, Per, Andelfinger, Gregor, Dietz, Harry C, Verstraeten, Aline, Loeys, Bart L
Published in Frontiers in physiology (2017)

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