Works matching AU ZEMAN, JIŘÍ

Results: 59

cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression.

Published in:

Human Mutation, 2005, v. 26, n. 6, p. 590, doi. 10.1002/humu.20270

By:

Zavadáková, Petra;
Fowler, Brian;
Suormala, Terttu;
Novotna, Zorka;
Mueller, Peter;
Hennermann, Julia B.;
Zeman, Jiří;
Vilaseca, M. Antonia;
Vilarinho, Laura;
Gutsche, Sven;
Wilichowski, Ekkehard;
Horneff, Gerd;
Kožich, Viktor

Publication type:

Article

cblE Type of homocystinuria due to methionine synthase reductase deficiency: Functional correction by minigene expression.

Published in:

Human Mutation, 2005, v. 25, n. 3, p. 239, doi. 10.1002/humu.20131

By:

Zavadáková, Petra;
Fowler, Brian;
Suormala, Terttu;
Novotna, Zorka;
Mueller, Peter;
Hennermann, Julia B.;
Zeman, Jiří;
Vilaseca, M. Antonia;
Vilarinho, Laura;
Gutsche, Sven;
Wilichowski, Ekkehard;
Horneff, Gerd;
Kožich, Viktor

Publication type:

Article

Ultrastructural Changes of Mitochondria in the Cultivated Skin Fibroblasts of Patients with Point Mutations in Mitochondrial DNA.

Published in:

Ultrastructural Pathology, 2006, v. 30, n. 4, p. 239, doi. 10.1080/01913120600820112

By:

Brantová, Olga;
Tesařová, Markéta;
Hansíková, Hana;
Elleder, Milan;
Zeman, Jiří;
Sládková, Jana

Publication type:

Article

The relationship of mitochondrial dysfunction and the development of insulin resistance in Cushing's syndrome.

Published in:

Diabetes, Metabolic Syndrome & Obesity: Targets & Therapy, 2019, v. 12, p. 1459, doi. 10.2147/DMSO.S209095

By:

Ježková, Jana;
Ďurovcová, Viktória;
Wenchich, Laszlo;
Hansíková, Hana;
Zeman, Jiří;
Hána, Václav;
Marek, Josef;
Lacinová, Zdeňka;
Haluzík, Martin;
Kršek, Michal

Publication type:

Article

International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome.

Published in:

2018

By:

Parini, Rossella;
Broomfield, Alexander;
Cleary, Maureen A.;
De Meirleir, Linda;
Di Rocco, Maja;
Fathalla, Waseem M.;
Guffon, Nathalie;
Lampe, Christina;
Lund, Allan M.;
Scarpa, Maurizio;
Tylki‐Szymańska, Anna;
Zeman, Jiří;
Tylki-Szymańska, Anna

Publication type:

journal article

JUBILEUM SVATOPLUKA PASTYŘÍKA.

Published in:

Acta Onomastica, 2019, v. 60, n. 2, p. 302

By:

Zeman, Jiří

Publication type:

Article

DOCENT VLADIMÍR KOBLÍŽEK SEDMDESÁTILETÝ.

Published in:

Acta Onomastica, 2016, v. 55, p. 400

By:

Zeman, Jiří

Publication type:

Article

ŽIVOTNÍ JUBILEUM DOC. SVATOPLUKA PASTYŘÍKA.

Published in:

Acta Onomastica, 2016, v. 55, p. 397

By:

Zeman, Jiří

Publication type:

Article

The effect of mepolizumab dosage form on treatment outcomes in severe asthma.

Published in:

Frontiers in Medicine, 2025, p. 1, doi. 10.3389/fmed.2025.1537074

By:

Vetchá, Martina;
Kubová, Kateřina;
Glynos, Constantinos;
Pavloková, Sylvie;
Krčmová, Irena;
Voláková, Eva;
Fibigr, Ondřej;
Hutyrová, Beáta;
Vlachová, Alena;
Zeman, Jiří;
Vetchý, David

Publication type:

Article

Mitochondrial DNA Haplogroups in the Czech Population Compared to Other European Countries.

Published in:

Human Biology, 2008, v. 80, n. 6, p. 669

By:

VIDROVÁ, VENDULA;
TESAŘOVÁ, MARKÉTA;
TREFILOVÁ, EVA;
HONZÍK, TOMÁŠ;
MAGNER, MARTIN;
ZEMAN, JIŘÍ

Publication type:

Article

Alcohol and drug intoxications in adolescents admitted to paediatric wards in the Czech Republic: 5-year retrospective study 2006-2010.

Published in:

2018

By:

Kabíček, Pavel;
Kobr, Jiří;
Šašek, Lumír;
Obdržálková, Zita;
Svitálková, Ludmila;
Hůrková, Věra;
Zeman, Jiří

Publication type:

journal article

A Novel MTTK Gene Variant m.8315A>C as a Cause of MERRF Syndrome.

Published in:

Genes, 2022, v. 13, n. 7, p. 1245, doi. 10.3390/genes13071245

By:

Štufková, Hana;
Kolářová, Hana;
Lokvencová, Kateřina;
Honzík, Tomáš;
Zeman, Jiří;
Hansíková, Hana;
Tesařová, Markéta

Publication type:

Article

Impact of Newborn Screening and Early Dietary Management on Clinical Outcome of Patients with Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency and Medium Chain Acyl-CoA Dehydrogenase Deficiency—A Retrospective Nationwide Study.

Published in:

Nutrients, 2021, v. 13, n. 9, p. 2925, doi. 10.3390/nu13092925

By:

Rücklová, Kristina;
Hrubá, Eva;
Pavlíková, Markéta;
Hanák, Petr;
Farolfi, Martina;
Chrastina, Petr;
Vlášková, Hana;
Kousal, Bohdan;
Smolka, Vratislav;
Foltenová, Hana;
Adam, Tomáš;
Friedecký, David;
Ješina, Pavel;
Zeman, Jiří;
Kožich, Viktor;
Honzík, Tomáš

Publication type:

Article

Activity of the liver enzyme ornithine carbamoyltransferase (OTC) in blood: LC-MS/MS assay for non-invasive diagnosis of ornithine carbamoyltransferase deficiency.

Published in:

Clinical Chemistry & Laboratory Medicine, 2017, v. 55, n. 8, p. 1168, doi. 10.1515/cclm-2016-0715

By:

Krijt, Jakub;
Sokolová, Jitka;
Ješina, Pavel;
Dvořáková, Lenka;
Řeboun, Martin;
Brennerová, Katarína;
Mistrík, Martin;
Zeman, Jiří;
Honzík, Tomáš;
Kožich, Viktor

Publication type:

Article

Evaluation of mucoadhesive oral films containing nystatin.

Published in:

Journal of Applied Biomedicine, 2016, v. 14, n. 4, p. 247, doi. 10.1016/j.jab.2016.05.002

By:

Gajdošová, Markéta;
Vetchý, David;
Doležel, Petr;
Gajdziok, Jan;
Landová, Hana;
Muselík, Jan;
Zeman, Jiří;
Knotek, Zdeněk;
Hauptman, Karel;
Jekl, Vladimír

Publication type:

Article

TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy.

Published in:

Nature Genetics, 2008, v. 40, n. 11, p. 1288, doi. 10.1038/ng.246

By:

Čížková, Alena;
Stránecký, Viktor;
Mayr, Johannes A;
Tesařová, Markéta;
Havlíčková, Vendula;
Paul, Jan;
Ivánek, Robert;
Kuss, Andreas W;
Hansíková, Hana;
Kaplanová, Vilma;
Vrbacký, Marek;
Hartmannová, Hana;
Nosková, Lenka;
Honzík, Tomáš;
Drahota, Zdeněk;
Magner, Martin;
Hejzlarová, Kateřina;
Sperl, Wolfgang;
Zeman, Jiří;
Houštěk, Josef

Publication type:

Article

A continuum model for brittle nanowires derived from an atomistic description by Γ-convergence.

Published in:

Calculus of Variations & Partial Differential Equations, 2023, v. 62, n. 9, p. 1, doi. 10.1007/s00526-023-02562-y

By:

Schmidt, Bernd;
Zeman, Jiří

Publication type:

Article

Efektivita zákona o významné tržní síle.

Published in:

Acta Academica Karviniensia, 2014, n. 4, p. 18

By:

Filipová, Alena;
Mokrejšová, Veronika;
Zeman, Jiří

Publication type:

Article

Sociolekty v různých sférách komunikace.

Published in:

Bohemistyka, 2024, n. 3, p. 489, doi. 10.14746/bo.2024.3.11

By:

ZEMAN, Jiří

Publication type:

Article

Changes in the retail market structure through the prism of consumer behaviour.

Published in:

Studia Commercialia Bratislavensia, 2021, v. 14, n. 48, p. 124

By:

Filipová, Alena;
Mokrejšová, Veronika;
Zeman, Jiří

Publication type:

Article

The Phenotypic Spectrum of 47 Czech Patients with Single, Large-Scale Mitochondrial DNA Deletions.

Published in:

Brain Sciences (2076-3425), 2020, v. 10, n. 11, p. 766, doi. 10.3390/brainsci10110766

By:

Anteneová, Nicole;
Kelifová, Silvie;
Kolářová, Hana;
Vondráčková, Alžběta;
Tóthová, Iveta;
Lišková, Petra;
Magner, Martin;
Zámečník, Josef;
Hansíková, Hana;
Zeman, Jiří;
Tesařová, Markéta;
Honzík, Tomáš

Publication type:

Article

The effect of different types of lactose monohydrate on the stability of acetylcholinesterase immobilized on carriers designed to detect nerve agents.

Published in:

Journal of Chemical Technology & Biotechnology, 2021, v. 96, n. 6, p. 1758, doi. 10.1002/jctb.6700

By:

Zeman, Jiří;
Pavloková, Sylvie;
Vetchý, David;
Pitschmann, Vladimír

Publication type:

Article

Životní jubileum Petra Mareše.

Published in:

Slovo a Slovesnost, 2024, v. 85, n. 3, p. 249, doi. 10.58756/s7638514

By:

Zeman, Jiří

Publication type:

Article

Výzkum syntaxe mluvené češtiny: inventarizace problémů.

Published in:

Slovo a Slovesnost, 2017, v. 78, n. 1, p. 45

By:

Hoffmannová, Jana;
Zeman, Jiří

Publication type:

Article

Journal of Asian Pacific Communication, Volume 22, Issue 2, 2012: Special Issue: Language Management Approach: Probing the Concept of "Noting".

Published in:

Slovo a Slovesnost, 2014, v. 75, n. 4, p. 358

By:

Zeman, Jiří

Publication type:

Article

James Wilson: Moravians in Prague: A Sociolinguistic Study of Dialect Contact in the Czech Republic. Frankfurt am Main - Berlin - Bern - Bruxelles - New York - Oxford - Wien: Peter Lang, 2010. xxiv+266 s. Prague Papers on Language, Society and Interaction, 2.

Published in:

Slovo a Slovesnost, 2013, v. 74, n. 4, p. 307

By:

Zeman, Jiří

Publication type:

Article

First Macedonian child with tyrosinemia type 1 successfully treated with nitisinone and report of a novel mutation in the FAH gene.

Published in:

Srpski Arhiv za Celokupno Lekarstvo, 2017, v. 145, n. 9/10, p. 530, doi. 10.2298/SARH161013084K

By:

Kostovski, Aco;
Zdraveska, Nikolina;
Tesarova, Marketa;
Zeman, Jiří

Publication type:

Article

Vascular presentation of cystathionine beta-synthase deficiency in adulthood.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 1, p. 33, doi. 10.1007/s10545-010-9146-y

By:

Magner, Martin;
Krupková, Lucie;
Honzík, Tomáš;
Zeman, Jiří;
Hyánek, Josef;
Kožich, Viktor

Publication type:

Article

Complex approach to prenatal diagnosis of cytochrome c oxidase deficiencies.

Published in:

Prenatal Diagnosis, 1999, v. 19, n. 6, p. 552, doi. 10.1002/(SICI)1097-0223(199906)19:6<552::AID-PD588>3.0.CO;2-C

By:

Houštěk, Josef;
Klement, Petr;
Heřmanská, Jana;
Antonická, Hana;
Houšťková, Hana;
Stratilová, Leona;
Wanders, Ronald J. A.;
Zeman, Jiří

Publication type:

Article

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

Published in:

Journal of Clinical Medicine, 2020, v. 9, n. 4, p. 937, doi. 10.3390/jcm9040937

By:

Kubánek, Miloš;
Schimerová, Tereza;
Piherová, Lenka;
Brodehl, Andreas;
Krebsová, Alice;
Ratnavadivel, Sandra;
Stanasiuk, Caroline;
Hansíková, Hana;
Zeman, Jiří;
Paleček, Tomáš;
Houštěk, Josef;
Drahota, Zdeněk;
Nůsková, Hana;
Mikešová, Jana;
Zámečník, Josef;
Macek, Milan;
Ridzoň, Petr;
Malusková, Jana;
Stránecký, Viktor;
Melenovský, Vojtěch

Publication type:

Article

Second-Generation Phosgene and Diphosgene Detection Tube.

Published in:

Chemosensors, 2020, v. 8, n. 4, p. 107, doi. 10.3390/chemosensors8040107

By:

Pitschmann, Vladimír;
Matějovský, Lukáš;
Zeman, Jiří;
Vetchý, David;
Dymák, Michal;
Lobotka, Martin;
Pavloková, Sylvie;
Moravec, Zdeněk

Publication type:

Article

Characteristics of food-wasting consumers in the Czech Republic.

Published in:

International Journal of Consumer Studies, 2017, v. 41, n. 6, p. 714, doi. 10.1111/ijcs.12384

By:

Filipová, Alena;
Mokrejšová, Veronika;
Šulc, Zdeněk;
Zeman, Jiří

Publication type:

Article

Dvojitě obalené pelety se semipermeabilním obalem z ethylcelulosy určené k detekci inhibitorů cholinesteras.

Published in:

Czech & Slovak Pharmacy / Česká a Slovenská Farmacie, 2020, v. 69, n. 1, p. 24

By:

Zeman, Jiří;
Pavloková, Sylvie;
Vetchý, David;
Pitschmann, Vladimír

Publication type:

Article

Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 3, p. 431, doi. 10.1038/ejhg.2013.148

By:

Vondráčková, Alžběta;
Veselá, Kateřina;
Kratochvílová, Hana;
Kučerová Vidrová, Vendula;
Vinšová, Kamila;
Stránecký, Viktor;
Honzík, Tomáš;
Hansíková, Hana;
Zeman, Jiří;
Tesařová, Markéta

Publication type:

Article

CLINICAL MANIFESTATION OF MITOCHONDRIAL DISEASES.

Published in:

Developmental Period Medicine, 2015, v. 19, n. 4, p. 441

By:

Magner, Martin;
Kolářová, Hana;
Honzík, Tomáš;
Švandová, Ivana;
Zeman, Jiří

Publication type:

Article

Mitochondrial Membrane Potential and ATP Production in Primary Disorders of ATP Synthase.

Published in:

Toxicology Mechanisms & Methods, 2004, v. 14, n. 1/2, p. 7, doi. 10.1080/15376520490257347

By:

Vojtíšková, Atena;
Jeśina, Pavel;
Kalous, Martin;
Kaptanová, Vilma;
Houštěk, Josef;
Tesařová, Markéta;
Fornůsková, Daniela;
Zeman, Jiří;
Dubot, Audrey;
Godinot, Catherine

Publication type:

Article

NEKROLOG.

Published in:

Slavia - Journal for Slavonic Philology / Časopis pro Slovanskou Filologii, 2023, v. 92, n. 2, p. 253

By:

Zeman, Jiří

Publication type:

Article

Two novel mutations in seven Czech and Slovak kindreds with familial neurohypophyseal diabetes insipidus-benefit of genetic testing.

Published in:

2016

By:

Hrčková, Gabriela;
Jankó, Viktor;
Kytnarová, Jitka;
Čižmárová, Michaela;
Tesařová, Markéta;
Košťálová, Ľudmila;
Virgová, Daniela;
Dallos, Tomáš;
Hána, Václav;
Lebl, Jan;
Zeman, Jiří;
Kovács, László;
Hrčková, Gabriela;
Jankó, Viktor;
Kytnarová, Jitka;
Čižmárová, Michaela;
Tesařová, Markéta;
Košťálová, Ľudmila;
Virgová, Daniela;
Dallos, Tomáš

Publication type:

journal article

Utilization of Pharmaceutical Technology Methods for the Development of Innovative Porous Metasilicate Pellets with a Very High Specific Surface Area for Chemical Warfare Agents Detection.

Published in:

Pharmaceutics, 2021, v. 13, n. 11, p. 1860, doi. 10.3390/pharmaceutics13111860

By:

Zeman, Jiří;
Pavloková, Sylvie;
Vetchý, David;
Staňo, Adam;
Moravec, Zdeněk;
Matějovský, Lukáš;
Pitschmann, Vladimír

Publication type:

Article

Mluvená syntax v Naší řeči.

Published in:

Our Language / Naše Řeč, 2017, v. 100, n. 3, p. 114

By:

ZEMAN, JIŘÍ

Publication type:

Article

Publikace o současné mluvené češtině.

Published in:

Our Language / Naše Řeč, 2013, v. 96, n. 2, p. 105

By:

Zeman, Jiří

Publication type:

Article

Moderní metody v diagnostice a výzkumu genetických příčin vzácných onemocnění.

Published in:

Journal of Czech Physicians / Časopis Lékařů Českých, 2018, v. 157, n. 3, p. 133

By:

Kmoch, Stanislav;
Zeman, Jiří

Publication type:

Article

Pohled do historie zdravotní péče o děti v Praze.

Published in:

Journal of Czech Physicians / Časopis Lékařů Českých, 2018, v. 157, n. 3, p. 113

By:

Zeman, Jiří;
Zeman, Ladislav

Publication type:

Article

Děti a digitální média.

Published in:

Journal of Czech Physicians / Časopis Lékařů Českých, 2018, v. 157, n. 3, p. 112

By:

Zeman, MUDr. Jiří

Publication type:

Article

Age Dependent Progression of Multiple Epiphyseal Dysplasia and Pseudoachondroplasia Due to Heterozygous Mutations in COMP Gene.

Published in:

Prague Medical Report, 2020, v. 121, n. 3, p. 153, doi. 10.14712/23362936.2020.14

By:

El-Lababidi, Nabil;
Zikánová, Marie;
Baxová, Alice;
Nosková, Lenka;
Leiská, Alena;
Lambert, Lukáš;
Honzík, Tomáš;
Zeman, Jiří

Publication type:

Article

Attenuated Type of Asphyxiating Thoracic Dysplasia due to Mutations in DYNC2H1 Gene.

Published in:

Prague Medical Report, 2019, v. 120, n. 4, p. 124, doi. 10.14712/23362936.2019.17

By:

Čechová, Anna;
Baxová, Alice;
Zeman, Jiří;
Lambert, Lukáš;
Honzík, Tomáš;
Leiská, Alena;
Čunát, Václav;
Tesařová, Markéta

Publication type:

Article

The Age Dependent Progression of Hajdu-Cheney Syndrome in Two Families.

Published in:

Prague Medical Report, 2018, v. 119, n. 4, p. 156, doi. 10.14712/23362936.2019.3

By:

Jirečková, Jitka;
Magner, Martin;
Lambert, Lukáš;
Baxová, Alice;
Leiská, Alena;
Kopečková, Lenka;
Fajkusová, Lenka;
Zeman, Jiří

Publication type:

Article

Hereditary Multiple Exostoses: Clinical, Molecular and Radiologic Survey in 9 Families.

Published in:

Prague Medical Report, 2017, v. 118, n. 2/3, p. 87, doi. 10.14712/23362936.2017.8

By:

Medek, Karel;
Zeman, Jiří;
Honzík, Tomáš;
Hansíková, Hana;
Švecová, Štěpánka;
Beránková, Kamila;
Vidrová, Vendula Kučerová;
Kuklík, Miloslav;
Chomiak, Jiří;
Tesařová, Markéta

Publication type:

Article

Isoelectric Focusing of Serum Apolipoprotein C-III as a Sensitive Screening Method for the Detection of O-glycosylation Disturbances.

Published in:

Prague Medical Report, 2015, v. 116, n. 2, p. 73, doi. 10.14712/23362936.2015.48

By:

Ondrušková, Nina;
Honzík, Tomáš;
Kytnarová, Jitka;
Matoulek, Martin;
Zeman, Jiří;
Hansíková, Hana

Publication type:

Article

Dědičné poruchy metabolismu lipidů (lipoproteinů, mastných kyselin, cholesterolu a sfingolipidů).

Published in:

Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie, 2024, v. 79, n. 5, p. 271

By:

Tomáš, Honzík;
Jiří, Zeman

Publication type:

Article