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1

The RF plasma surface chemical modification of nanodiamond films grown on glass and silicon at low temperature

Remes, Z., Kromka, A., Vanecek, M., Grinevich, A., Hartmannova, H., Kmoch, S.

Journal:

Diamond and Related Materials

Year:

2007

Language:

english

File:

PDF, 447 KB

english, 2007

2

Assembly of osteoblastic cell micro-arrays on diamond guided by protein pre-adsorption

Rezek, B., Ukraintsev, E., Kromka, A., Ledinský, M., Brož, A., Nosková, L., Hartmannová, H., Kalbacova, M.

Journal:

Diamond and Related Materials

Year:

2010

Language:

english

File:

PDF, 969 KB

english, 2010

3

A patient showing features of both SBBYSS and GPS supports the concept of a KAT6B-related disease spectrum, with mutations in mid-exon 18 possibly leading to combined phenotypes

Vlckova, Marketa, Simandlova, Martina, Zimmermann, Pavel, Stranecky, Viktor, Hartmannova, Hana, Hodanova, Katerina, Havlovicova, Marketa, Hancarova, Miroslava, Kmoch, Stanislav, Sedlacek, Zdenek

Journal:

European Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 1018 KB

english, 2015

4

Rare variants in known and novel candidate genes predisposing to statin-associated myopathy

Neřoldová, Magdaléna, Stránecký, Viktor, Hodaňová, Kateřina, Hartmannová, Hana, Piherová, Lenka, Přistoupilová, Anna, Mrázová, Lenka, Vrablík, Michal, Adámková, Věra, Hubáček, Jaroslav A, Jirsa, Milan

Journal:

Pharmacogenomics

Year:

2016

Language:

english

File:

PDF, 1.58 MB

english, 2016

5

Hereditary truncating mutations of DNA repair and other genes in BRCA1 / BRCA2 / PALB2 -negatively tested breast cancer patients

Lhota, Filip, Zemankova, Petra, Kleiblova, Petra, Soukupova, Jana, Vocka, Michal, Stranecky, Viktor, Janatova, Marketa, Hartmannova, Hana, Hodanova, Katerina, Kmoch, Stanislav, Kleibl, Zdenek

Journal:

Clinical Genetics

Year:

2016

Language:

english

File:

PDF, 877 KB

english, 2016

6

Novel phenotype associated with OPA1 mutations?

Markéta Tesařová, Viktor Stránecký, Hana Kratochvílová, Zuzana Hájková, Jana Sládková, Jana Spáčilová, Hana Hansíková, Tomáš Honzík, Hana Hartmannová, Lenka Nosková, Lenka Piherová, Emilie Lalonde, Ja

Journal:

Year:

2012

Language:

english

File:

PDF, 58 KB

english, 2012

7

Flicker due to space charge

Kmoch, S., Majewski, J., Ramamurthy, V., Cao, S., Fahiminiya, S., Ren, H., MacDonald, I. M., Lopez, I., Sun, V., Keser, V., Khan, A., Stránecký, V., Hartmannová, H., Přistoupilová, A., Hodaňová, K., P

Journal:

Journal of the Institution of Electrical Engineers

Year:

1958

Language:

english

File:

PDF, 290 KB

english, 1958

8

Adenylosuccinase deficiency: Clinical and biochemical findings in 5 Czech patients

I. Šebesta, J. Krijt, S. Kmoch, H. Hartmannová, M. Wojda, J. Zeman

Journal:

Journal of Inherited Metabolic Disease

Year:

1997

Language:

english

File:

PDF, 9 KB

english, 1997

9

Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis

Lenka Nosková, Viktor Stránecký, Hana Hartmannová, Anna Přistoupilová, Veronika Barešová, Robert Ivánek, Helena Hůlková, Helena Jahnová, Julie van der Zee, John F. Staropoli, Katherine B. Sims, Jaana

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 2.52 MB

english, 2011

10

Mutations in TMEM76 Cause Mucopolysaccharidosis IIIC (Sanfilippo C Syndrome)

Martin Hřebíček, Lenka Mrázová, Volkan Seyrantepe, Stéphanie Durand, Nicole M. Roslin, Lenka Nosková, Hana Hartmannová, Robert Ivánek, Alena Čížková, Helena Poupětová, Jakub Sikora, Jana Uřinovská, Vi

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 1.17 MB

english, 2006

11

Localization and orientation of TMEM70 protein in the inner mitochondrial membrane

Hejzlarová, K., Kratochvílová, H., Mráček, T., Tesařová, M., Vrbacká-Čížková, A., Vrbacký, M., Hartmannová, H., Kaplanová, V., Nosková, L., Buzková, J., Havlíčková-Karbanová, V., Zeman, J., Kmoch, S.,

Journal:

Biochimica et Biophysica Acta (BBA) - Bioenergetics

Year:

2012

Language:

english

File:

PDF, 44 KB

english, 2012

12

Expression and processing of the TMEM70 protein

Kateřina Hejzlarová, Markéta Tesařová, Alena Vrbacká-Čížková, Marek Vrbacký, Hana Hartmannová, Vilma Kaplanová, Lenka Nosková, Hana Kratochvílová, Jana Buzková, Vendula Havlíčková, Jiří Zeman, Stanisl

Journal:

Biochimica et Biophysica Acta (BBA) - Bioenergetics

Year:

2011

Language:

english

File:

PDF, 834 KB

english, 2011

13

Isolated X-Linked Hypertrophic Cardiomyopathy Caused by a Novel Mutation of the Four-and-a-Half LIM Domain 1 Gene

Hartmannova, H., Kubanek, M., Sramko, M., Piherova, L., Noskova, L., Hodanova, K., Stranecky, V., Pristoupilova, A., Sovova, J., Marek, T., Maluskova, J., Ridzon, P., Kautzner, J., Hulkova, H., Kmoch,

Journal:

Circulation Cardiovascular Genetics

Year:

2013

Language:

english

File:

PDF, 1.19 MB

english, 2013

14

Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease

Živná, Martina, Kidd, Kendrah, Přistoupilová, Anna, Barešová, Veronika, DeFelice, Mathew, Blumenstiel, Brendan, Harden, Maegan, Conlon, Peter, Lavin, Peter, Connaughton, Dervla M., Hartmannová, Hana,

Journal:

Journal of the American Society of Nephrology

Year:

2018

Language:

english

File:

PDF, 2.20 MB

english, 2018

15

Mechanisms causing the death of 8 calves surviving with implanted artificial heart from 31 to 173 days

Hartmannová, B., Vašků, J., Doležel, S., Urbánek, E., Filkuka, J., Sládek, T., Krček, L., Guba, P., Dostál, M., Černý, J., Šotáková, E., Urbánek, P., Hanzelka, P., Vašků, J.

Journal:

Experimental Pathology

Year:

1984

Language:

english

File:

PDF, 2.63 MB

english, 1984

16

Instrumentation of ramus circumflexus compromises the innervation of coronary artery and myocardium

S. Doleẑel, F. Kristek, Mária Gerová, Brigitta Hartmannová, M. Dostál, J. Nečas, P. Dobšák

Journal:

Journal of the Autonomic Nervous System

Year:

1994

Language:

english

File:

PDF, 927 KB

english, 1994

17

Mineralization of Polyurethane Membranes in the Total Artificial Heart (TAH): A Retrospective Study from Long-Term Animal Experiments

Dostál, M., Vašků, J., Vašků, Jan, Šotolová, O., Vašků, A., Doležel, S., Hartmannová, B.

Journal:

The International Journal of Artificial Organs

Year:

1990

Language:

english

File:

PDF, 764 KB

english, 1990

18

Innervation of Atrial Stumps in Calves Living with the TNS-Brno II Artificial Heart

Svatopluk Doležel, Jaromír Vašků, Brigita Hartmannová, Jaroslav Filkuka, Jan černý, Miloslav Dostál, Tomáš Sládek, Erich Urbánek

Journal:

Artificial Organs

Year:

1985

Language:

english

File:

PDF, 1.33 MB

english, 1985

19

Cerebellar dysfunction in a family harboring the PSEN1 mutation co-segregating with a Cathepsin D variant p.A58V

Ehling, Rainer, Nosková, Lenka, Stránecký, Viktor, Hartmannová, Hana, Přistoupilová, Anna, Hodaňová, Kateřina, Benke, Thomas, Kovacs, Gabor G., Ströbel, Thomas, Niedermüller, Ulrike, Wagner, Michaela,

Journal:

Journal of the Neurological Sciences

Year:

2013

Language:

english

File:

PDF, 1009 KB

english, 2013

20

Genetic heterogeneity in adenylosuccinate lyase deficiency

S. Kmoch, H. Hartmannová, J. Krijt, D. Valík, J.D. Jones, L. Šebesta

Journal:

Clinical Biochemistry

Year:

1997

Language:

english

File:

PDF, 127 KB

english, 1997

21

Identification and determination of succinyladenosine in human cerebrospinal fluid

Jakub Krijt, Stanislav Kmoch, Hana Hartmannová, Vladimı́r Havlı́ček, Ivan Šebesta

Journal:

Journal of Chromatography B: Biomedical Sciences and Applications

Year:

1999

Language:

english

File:

PDF, 89 KB

english, 1999

22

Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated F1FoATP synthase deficiency

Alena Čížková, Viktor Stránecký, Robert Ivánek, Hana Hartmannová, Lenka Nosková, Lenka Piherová, Markéta Tesařová, Hana Hansíková, Tomáš Honzík, Jiří Zeman, Petr Divina, Andrea Potocká, Jan Paul, Wolf

Journal:

Year:

2008

Language:

english

File:

PDF, 702 KB

english, 2008

23

Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2

Davidson, Alice E., Liskova, Petra, Evans, Cerys J., Dudakova, Lubica, Nosková, Lenka, Pontikos, Nikolas, Hartmannová, Hana, Hodaňová, Kateřina, Stránecký, Viktor, Kozmík, Zbyněk, Levis, Hannah J., Id

Journal:

The American Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 2.09 MB

english, 2016

24

Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing

Jedličková, Ivana, Cadieux-Dion, Maxime, Přistoupilová, Anna, Stránecký, Viktor, Hartmannová, Hana, Hodaňová, Kateřina, Barešová, Veronika, Hůlková, Helena, Sikora, Jakub, Nosková, Lenka, Mušálková, D

Journal:

European Journal of Human Genetics

Year:

2020

File:

PDF, 1.22 MB

2020

25

Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis

Lenka Nosková, Viktor Stránecký, Hana Hartmannová, Anna Přistoupilová, Veronika Barešová, Robert Ivánek, Helena Hůlková, Helena Jahnová, Julie van der Zee, John F. Staropoli, Katherine B. Sims, Jaana

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 29 KB

english, 2011

26

A Comparative Study of a Group of Eight Calves, Surviving Longer than 1 Month with the Total Artificial Heart

Jaromír Vaŝků, Jan Ĉerný, Jan Vaŝků, Erich Urbánek, Miloslav Dostál, Petr Urbánek, Peter Guba, Viktor Pavlíĉek, Tomáŝ Sládek, Miloŝ Smutnŷ, Tomáŝ Úlehla, Brigita Hartmannová, Vojtêch Trbuŝek, Helena J

Journal:

Artificial Organs

Year:

1983

Language:

english

File:

PDF, 1.92 MB

english, 1983

27

Succinyladenosine is a normal component of cerebrospinal fluid

J. Krijt, S. Kmoch, H. Hartmannová, I. Šebesta, V. Havliček

Journal:

Clinical Biochemistry

Year:

1997

Language:

english

File:

PDF, 121 KB

english, 1997

28

Intraneuronal noradrenaline content calculated by two different techniques

S. Doležel, J. Feit, M. Volín, B. Hartmannová, J. Vašků

Journal:

Journal of Molecular Histology

Year:

1984

Language:

english

File:

PDF, 167 KB

english, 1984

29

Multiplex PCR and NGS-based identification of mRNA splicing variants: Analysis of BRCA1 splicing pattern as a model

Hojny, Jan, Zemankova, Petra, Lhota, Filip, Sevcik, Jan, Stranecky, Viktor, Hartmannova, Hana, Hodanova, Katerina, Mestak, Ondrej, Pavlista, David, Janatova, Marketa, Soukupova, Jana, Vocka, Michal, K

Journal:

Year:

2017

Language:

english

File:

PDF, 1.98 MB

english, 2017

30

Spinal muscular atrophy caused by a novel Alu âmediated deletion of exons 2aâ5 in SMN1 undetectable with routine genetic testing

JedliÄkovÃ¡, Ivana, PÅistoupilovÃ¡, Anna, NoskovÃ¡, Lenka, Majer, Filip, StrÃ¡neckÃ½, Viktor, HartmannovÃ¡, Hana, HodaÅovÃ¡, KateÅina, TreÅ¡lovÃ¡, Helena, HÃ½blovÃ¡, Michaela, SolÃ¡r, Peter, MinÃ¡

Journal:

Molecular Genetics & Genomic Medicine

Year:

2020

File:

PDF, 1.03 MB

2020

31

The border zone of the early myocardial infarction in dogs; its characteristics and viability

T. Sládek, J. Filkuka, S. Doležel, J. Vašků, B. Hartmannová, J. Trávníčková

Journal:

Basic Research in Cardiology

Year:

1984

Language:

english

File:

PDF, 613 KB

english, 1984

32

Detection of viral infections by an oligonucleotide microarray

Miroslav Sip, Dagmar Bystricka, Stanislav Kmoch, Lenka Noskova, Hana Hartmannova, Petr Dedic

Journal:

Journal of Virological Methods

Year:

2010

Language:

english

File:

PDF, 480 KB

english, 2010

33

An International Cohort Study of Autosomal Dominant Tubulointerstitial Kidney Disease due to REN Mutations Identifies Distinct Clinical Subtypes

Å½ivnÃ¡, Martina, Kidd, Kendrah, Zaidan, Mohamad, VyleÅ¥al, Petr, BareÅ¡ovÃ¡, Veronika, HodaÅovÃ¡, KateÅina, SovovÃ¡, Jana, HartmannovÃ¡, Hana, Votruba, Miroslav, TreÅ¡lovÃ¡, Helena, JedliÄkovÃ¡, I

Journal:

Kidney International

Year:

2020

File:

PDF, 2.81 MB

2020

34

Clinical and biochemical heterogeneity in 5 patients with adenylosuccinase deficiency

I. Šebesta, J. Krijt, S. Kmoch, H. Hartmannová, J. Zeman

Journal:

Clinical Biochemistry

Year:

1997

Language:

english

File:

PDF, 130 KB

english, 1997

35

Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness

Kmoch, S., Majewski, J., Ramamurthy, V., Cao, S., Fahiminiya, S., Ren, H., MacDonald, I. M., Lopez, I., Sun, V., Keser, V., Khan, A., Stránecký, V., Hartmannová, H., Přistoupilová, A., Hodaňová, K., P

Journal:

Nature Communications

Year:

2015

Language:

english

File:

PDF, 2.17 MB

english, 2015

36

Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver

van de Steeg, Evita, Stránecký, Viktor, Hartmannová, Hana, Nosková, Lenka, Hřebíček, Martin, Wagenaar, Els, van Esch, Anita, de Waart, Dirk R., Oude Elferink, Ronald P.J., Kenworthy, Kathryn E., Stico

Journal:

Journal of Clinical Investigation

Year:

2012

Language:

english

File:

PDF, 1.16 MB

english, 2012

37

Rare Copy Number Variation In an Extremely Impulsively Violent Males

Vevera, Jan, Zarrei, Mehdi, Hartmannová, Hana, Jedličková, Ivana, Mušálková, Dita, Přistoupilová, Anna, Oliveriusová, Petra, Trešlová, Helena, Nosková, Lenka, Hodaňová, Kateřina, Stránecký, Viktor, Ji

Journal:

Genes, Brain and Behavior

Year:

2018

Language:

english

File:

PDF, 3.05 MB

english, 2018

38

Rate of degeneration in the nervous cardiac system after placing a ring around the coronary artery in a long-lasting experiment: a quantitative histochemical study

S. Doležel, B. Hartmannová, M. Gerová, M. Dostál, H. Janečková, J. Vašků

Journal:

Journal of Molecular Histology

Year:

1983

Language:

english

File:

PDF, 119 KB

english, 1983

39

Mutation of Nogo-B Receptor, a Subunit of cis-Prenyltransferase, Causes a Congenital Disorder of Glycosylation

Park, Eon Joo, Grabińska, Kariona A., Guan, Ziqiang, Stránecký, Viktor, Hartmannová, Hana, Hodaňová, Kateřina, Barešová, Veronika, Sovová, Jana, Jozsef, Levente, Ondrušková, Nina, Hansíková, Hana, Hon

Journal:

Cell Metabolism

Year:

2014

Language:

english

File:

PDF, 2.78 MB

english, 2014

40

Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6

Hartmannová, Hana, Piherová, Lenka, Tauchmannová, Kateřina, Kidd, Kendrah, Acott, Philip D., Crocker, John F. S., Oussedik, Youcef, Mallet, Marcel, Hodaňová, Kateřina, Stránecký, Viktor, Přistoupilová

Journal:

Human Molecular Genetics

Year:

2016

Language:

english

File:

PDF, 323 KB

english, 2016

41

Preparation of 5-amino-4-imidazole-N-succinocarboxamide ribotide, 5-amino-4-imidazole-N-succinocarboxamide riboside and succinyladenosine, compounds usable in diagnosis and research of adenylosuccinate lyase deficiency

M. Zikánová, J. Krijt, H. Hartmannová, S. Kmoch

Journal:

Journal of Inherited Metabolic Disease

Year:

2005

Language:

english

File:

PDF, 94 KB

english, 2005

42

Rotor-type hyperbilirubinaemia has no defect in the canalicular bilirubin export pump

Martin Hřebíček, Tomáš Jirásek, Hana Hartmannová, Lenka Nosková, Viktor Stránecký, Robert Ivánek, Stanislav Kmoch, Dita Cebecauerová, Libor Vítek, Miroslav Mikulecký, Iva Subhanová, Pavel Hozák, Milan

Journal:

Liver International

Year:

2007

Language:

english

File:

PDF, 1.36 MB

english, 2007

43

150-Day Survival of a Calf with a Polymethylmethacrylate Total Artificial Heart: TNS-BRNO-II

Jaromír Vašků, Jan černý, Pavel Hanzelka, Jan Vašků, Erich Urbánek, Miloslav Dostál, Petr Urbánek, Peter Guba, Viktor Pavlíček, Lubomír Krček, Tomá šSládek, Brigita Hartmannová, Jaroslav Filkuka, Hele

Journal:

Artificial Organs

Year:

1981

Language:

english

File:

PDF, 3.21 MB

english, 1981

44

Cardiac adrenergic innervation after instrumentation of the coronary artery in dog

Dolezel, S., Gerova, M., Hartmannova, B., Dostal, M., Janeckova, H., Vasku, J.

Journal:

American journal of physiology. Heart and circulatory physiology

Year:

1984

Language:

english

File:

PDF, 1.87 MB

english, 1984

45

Mutations in ANTXR1 Cause GAPO Syndrome

Stránecký, Viktor, Hoischen, Alexander, Hartmannová, Hana, Zaki, Maha S., Chaudhary, Amit, Zudaire, Enrique, Nosková, Lenka, Barešová, Veronika, Přistoupilová, Anna, Hodaňová, Kateřina, Sovová, Jana,

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 595 KB

english, 2013

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