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Lymphoproliferation, immunodeficiency and early-onset inflammatory bowel disease associated with a novel mutation in Caspase 8
Lymphoproliferation, immunodeficiency and early-onset inflammatory bowel disease associated with a novel mutation in Caspase 8
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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

Haematologica (Roma), 2019-01, Vol.104 (1), p.e32-e34 [Periódico revisado por pares]

Italy: Ferrata Storti Foundation

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2
Exon first nucleotide mutations in splicing: evaluation of in silico prediction tools
Exon first nucleotide mutations in splicing: evaluation of in silico prediction tools
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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 Spilianakis, Charalampos Babis

PloS one, 2014-02, Vol.9 (2), p.e89570-e89570 [Periódico revisado por pares]

United States: Public Library of Science

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3
Role of Flow Cytometry in the Diagnosis of Chronic Granulomatous Disease: the Egyptian Experience
Role of Flow Cytometry in the Diagnosis of Chronic Granulomatous Disease: the Egyptian Experience
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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

Journal of clinical immunology, 2016-08, Vol.36 (6), p.610-618 [Periódico revisado por pares]

New York: Springer US

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4
The molecular basis of familial hypercholesterolemia in the Czech Republic: Spectrum of LDLR mutations and genotype–phenotype correlations
The molecular basis of familial hypercholesterolemia in the Czech Republic: Spectrum of LDLR mutations and genotype–phenotype correlations
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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

Atherosclerosis, 2012-08, Vol.223 (2), p.401-408 [Periódico revisado por pares]

Amsterdam: Elsevier Ireland Ltd

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5
The logarithm of the triglyceride/HDL-cholesterol ratio is related to the history of cardiovascular disease in patients with familial hypercholesterolemia
The logarithm of the triglyceride/HDL-cholesterol ratio is related to the history of cardiovascular disease in patients with familial hypercholesterolemia
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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

Clinical biochemistry, 2012-01, Vol.45 (1-2), p.96-100 [Periódico revisado por pares]

Amsterdam: Elsevier Inc

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6
An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia
An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia
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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

Atherosclerosis, 2011-05, Vol.216 (1), p.139-145 [Periódico revisado por pares]

Amsterdam: Elsevier Ireland Ltd

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7
No major effect of the CDH1 c.2440-6C>G mutation on splicing detected in last exon-specific splicing minigene assay
No major effect of the CDH1 c.2440-6C>G mutation on splicing detected in last exon-specific splicing minigene assay
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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

Genes chromosomes & cancer, 2014-09, Vol.53 (9), p.798-801 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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8
Deep Intronic Mutation in SERPING1 Caused Hereditary Angioedema Through Pseudoexon Activation
Deep Intronic Mutation in SERPING1 Caused Hereditary Angioedema Through Pseudoexon Activation
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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

Journal of clinical immunology, 2020-04, Vol.40 (3), p.435-446 [Periódico revisado por pares]

New York: Springer US

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9
Skin lesions in a boy with X-linked lymphoproliferative disorder: comparison of 5 SH2D1A deletion cases
Skin lesions in a boy with X-linked lymphoproliferative disorder: comparison of 5 SH2D1A deletion cases
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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

Pediatrics (Evanston), 2012-02, Vol.129 (2), p.e523-e528 [Periódico revisado por pares]

United States: American Academy of Pediatrics

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10
Systematic Approach Revealed SERPING1 Splicing-Affecting Variants to be Highly Represented in the Czech National HAE Cohort
Systematic Approach Revealed SERPING1 Splicing-Affecting Variants to be Highly Represented in the Czech National HAE Cohort
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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

Journal of clinical immunology, 2023-11, Vol.43 (8), p.1974-1991 [Periódico revisado por pares]

New York: Springer US

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