Deep Intronic Mutation in SERPING1 Caused Hereditary Angioedema Through Pseudoexon Activation
Hujová, Pavla, Souček, Přemysl, Grodecká, Lucie, Grombiříková, Hana, Ravčuková, Barbora, Kuklínek, Pavel, Hakl, Roman, Litzman, Jiří, Freiberger, Tomáš
Published in Journal of clinical immunology (01.04.2020)
Published in Journal of clinical immunology (01.04.2020)
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Journal Article
Exon first nucleotide mutations in splicing: evaluation of in silico prediction tools
Grodecká, Lucie, Lockerová, Pavla, Ravčuková, Barbora, Buratti, Emanuele, Baralle, Francisco E, Dušek, Ladislav, Freiberger, Tomáš
Published in PloS one (21.02.2014)
Published in PloS one (21.02.2014)
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Systematic analysis of splicing defects in selected primary immunodeficiencies-related genes
Grodecká, Lucie, Hujová, Pavla, Kramárek, Michal, Kršjaková, Tereza, Kováčová, Tatiana, Vondrášková, Katarína, Ravčuková, Barbora, Hrnčířová, Kristýna, Souček, Přemysl, Freiberger, Tomáš
Published in Clinical immunology (Orlando, Fla.) (01.07.2017)
Published in Clinical immunology (Orlando, Fla.) (01.07.2017)
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Journal Article
Lymphoproliferation, immunodeficiency and early-onset inflammatory bowel disease associated with a novel mutation in Caspase 8
Kanderova, Veronika, Grombirikova, Hana, Zentsova, Irena, Reblova, Kamila, Klocperk, Adam, Fejtkova, Martina, Bloomfield, Marketa, Ravcukova, Barbora, Kalina, Tomas, Freiberger, Tomas, Sediva, Anna
Published in Haematologica (Roma) (01.01.2019)
Published in Haematologica (Roma) (01.01.2019)
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Journal Article
The molecular basis of familial hypercholesterolemia in the Czech Republic: Spectrum of LDLR mutations and genotype–phenotype correlations
Tichý, Lukáš, Freiberger, Tomáš, Zapletalová, Petra, Soška, Vladimír, Ravčuková, Barbora, Fajkusová, Lenka
Published in Atherosclerosis (01.08.2012)
Published in Atherosclerosis (01.08.2012)
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Role of Flow Cytometry in the Diagnosis of Chronic Granulomatous Disease: the Egyptian Experience
El Hawary, Rabab, Meshaal, Safa, Deswarte, Caroline, Galal, Nermeen, Abdelkawy, Mahitab, Alkady, Radwa, Elaziz, Dalia Abd, Freiberger, Tomas, Ravcukova, Barbora, Litzman, Jiri, Bustamante, Jacinta, Boutros, Jeannette, Gaafar, Taghrid, Elmarsafy, Aisha
Published in Journal of clinical immunology (01.08.2016)
Published in Journal of clinical immunology (01.08.2016)
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The logarithm of the triglyceride/HDL-cholesterol ratio is related to the history of cardiovascular disease in patients with familial hypercholesterolemia
Soška, Vladimír, Jarkovský, Jiří, Ravčuková, Barbora, Tichý, Lukáš, Fajkusová, Lenka, Freiberger, Tomáš
Published in Clinical biochemistry (01.01.2012)
Published in Clinical biochemistry (01.01.2012)
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Journal Article
An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia
Dušková, Lucie, Kopečková, Lenka, Jansová, Eva, Tichý, Lukáš, Freiberger, Tomáš, Zapletalová, Petra, Soška, Vladimír, Ravčuková, Barbora, Fajkusová, Lenka
Published in Atherosclerosis (01.05.2011)
Published in Atherosclerosis (01.05.2011)
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Journal Article
No major effect of the CDH1 c.2440-6C>G mutation on splicing detected in last exon-specific splicing minigene assay
Grodecká, Lucie, Kramárek, Michal, Lockerová, Pavla, Kováčová, Tatiana, Ravčuková, Barbora, Richterová, Radmila, Kyselová, Kateřina, Augste, Eva, Freiberger, Tomáš
Published in Genes chromosomes & cancer (01.09.2014)
Published in Genes chromosomes & cancer (01.09.2014)
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Journal Article
Skin lesions in a boy with X-linked lymphoproliferative disorder: comparison of 5 SH2D1A deletion cases
Mejstríková, Ester, Janda, Ales, Hrusák, Ondrej, Bucková, Hana, Vlcková, Markéta, Hancárová, Miroslava, Freiberger, Tomás, Ravcuková, Barbora, Vesely, Karel, Fajkusová, Lenka, Kopecková, Lenka, Sumerauer, David, Kabícková, Edita, Sedivá, Anna, Stary, Jan, Sedlácek, Zdenek
Published in Pediatrics (Evanston) (01.02.2012)
Published in Pediatrics (Evanston) (01.02.2012)
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Systematic Approach Revealed SERPING1 Splicing-Affecting Variants to be Highly Represented in the Czech National HAE Cohort
Grombirikova, Hana, Bily, Viktor, Soucek, Premysl, Kramarek, Michal, Hakl, Roman, Ballonova, Lucie, Ravcukova, Barbora, Ricna, Dita, Kozena, Karolina, Kratochvilova, Lucie, Sobotkova, Marta, Zachova, Radana, Kuklinek, Pavel, Kralickova, Pavlina, Krcmova, Irena, Hanzlikova, Jana, Vachova, Martina, Krystufkova, Olga, Dankova, Eva, Jesenak, Milos, Novackova, Martina, Svoboda, Michal, Litzman, Jiri, Freiberger, Tomas
Published in Journal of clinical immunology (01.11.2023)
Published in Journal of clinical immunology (01.11.2023)
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Journal Article
Complex analysis of the TP53 tumor suppressor in mantle cell and diffuse large B-cell lymphomas
Zlamalikova, Lenka, Moulis, Mojmir, Ravcukova, Barbora, Liskova, Kvetoslava, Malcikova, Jitka, Salek, David, Jarkovsky, Jiri, Svitakova, Miluse, Hrabalkova, Renata, Smarda, Jan, Smardova, Jana
Published in Oncology reports (01.10.2017)
Published in Oncology reports (01.10.2017)
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Journal Article
Prognostic impact of p53 aberrations for R-CHOP-treated patients with diffuse large B-cell lymphoma
STEFANCIKOVA, Lenka, MOULIS, Mojmir, HRABALKOVA, Renata, SMARDOVA, Jana, FABIAN, Pavel, VASOVA, Ingrid, ZEDEK, Frantisek, RAVCUKOVA, Barbora, MUZIK, Jan, KUGLIK, Petr, VRANOVA, Vladimira, FALKOVA, Iva
Published in International journal of oncology (01.12.2011)
Published in International journal of oncology (01.12.2011)
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Journal Article
Complex analysis of the p53 tumor suppressor in lung carcinoma
SMARDOVA, JANA, LISKOVA, KVETOSLAVA, RAVCUKOVA, BARBORA, MALCIKOVA, JITKA, HAUSNEROVA, JITKA, SVITAKOVA, MILUSE, HRABALKOVA, RENATA, ZLAMALIKOVA, LENKA, STANO-KOZUBIK, KATERINA, BLAHAKOVA, IVONA, SPELDOVA, JANA, JARKOVSKY, JIRI, SMARDA, JAN
Published in Oncology reports (01.03.2016)
Published in Oncology reports (01.03.2016)
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Journal Article
X-Linked agammaglobulinemia in a child with Klinefelter’s syndrome
Cochino, Alexis-Virgil, Janda, Ales, Ravcukova, Barbora, Plaiasu, Vasilica, Ochiana, Diana, Gherghina, Ioan, Freiberger, Tomas
Published in Journal of clinical immunology (01.02.2014)
Published in Journal of clinical immunology (01.02.2014)
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Journal Article
Loss of the p53 tumor suppressor activity is associated with negative prognosis of mantle cell lymphoma
STEF ANCIKOVA, Lenka, MOULIS, Mojmir, FABIAN, Pavel, RAVCUKOVA, Barbora, VASOVA, Ingrid, MUZIK, Jan, MALCIKOVA, Jitka, FALKOVA, Iva, SLOVACKOVA, Jana, SMARDOVA, Jana
Published in International journal of oncology (01.03.2010)
Published in International journal of oncology (01.03.2010)
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Journal Article
High Frequency of Temperature-Sensitive Mutants of p53 in Glioblastoma
Smardova, Jana, Liskova, Kvetoslava, Ravcukova, Barbora, Kubiczkova, Lenka, Sevcikova, Sabina, Michalek, Jaroslav, Svitakova, Miluse, Vybihal, Vaclav, Kren, Leos, Smarda, Jan
Published in Pathology oncology research (01.07.2013)
Published in Pathology oncology research (01.07.2013)
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