prof. MUDr. Tomáš Freiberger, Ph.D.

2014

• 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

  Article in Periodical

  GENES CHROMOSOMES & CANCER, year: 2014, volume: 53, edition: 9, DOI

• Novel FBN1 gene mutation and maternal germinal mosaicism as the cause of neonatal form of Marfan syndrome

  ŠÍPEK A. GRODECKÁ Lucie BAXOVÁ A. CIBULKOVÁ P. DVOŘÁKOVÁ M. MAZUROVÁ Svatava MAGNER Michal ZEMAN J. HONZÍK Tomáš FREIBERGER Tomáš

  Article in Periodical

  AMERICAN JOURNAL OF MEDICAL GENETICS PART A, year: 2014, volume: 164, edition: 6, DOI

• Nový diagnostický algoritmus autosomálně dominantní hypercholesterolémie v ČR

  TICHÝ Lukáš FREIBERGER Tomáš ZAPLETALOVÁ P. LETOCHA O.

  Conference abstract

  Year: 2014, type: Conference abstract

• Protein folding disease: Familiar Hypercholesterolemia

  PAVLOUŠKOVÁ Jana TICHÝ Lukáš FREIBERGER Tomáš FAJKUSOVÁ Lenka

  Conference abstract

  Year: 2014, type: Conference abstract

• The TREC/KREC Assay for the Diagnosis and Monitoring of Patients with DiGeorge Syndrome

  FROŇKOVÁ Eva KLOCPERK Adam SVATOŇ Michael NOVÁKOVÁ Michaela KOTROVÁ Michaela KAYSEROVÁ Jana KALLNA Tomáš KESLOVÁ Petra VOTAVA Filip VINOHRADSKÁ Hana FREIBERGER Tomáš MEJSTRIKOVÁ Eva TRKA Jan ŠEDIVÁ Anna

  Article in Periodical

  Plos one, year: 2014, volume: 9, edition: 12, DOI

• The variable clinical course of peripartum cardiomyopathy

  KREJČÍ Jan HUDE Petr ŠPINAROVÁ Lenka ŽAMPACHOVÁ Víta SIROTKOVÁ Alžběta FREIBERGER Tomáš NEMCOVA Eva VÍTOVEC Jiří

  Article in Periodical

  Biomedical Papers, year: 2014, volume: 158, edition: 1, DOI

• Variant within the apolipoprotein B and its role in pseudo-FH development

  FELLNEROVÁ A. DLOUHÁ D. HUBÁČEK Josef TICHÝ Lukáš FAJKUSOVÁ Lenka FREIBERGER Tomáš

  Conference abstract

  Year: 2014, type: Conference abstract

• X-linked agammaglobulinemia caused by new mutation in BTK gene: A case report

  HAVLICEKOVA Zuzana JESENAK Milos FREIBERGER Tomáš BANOVCIN Peter

  Article in Periodical

  BIOMEDICAL PAPERS-OLOMOUC, year: 2014, DOI

• X-Linked agammaglobulinemia in a child with Klinefelter’s syndrome

  COCHINO Alexis-Virgil JANDA Ales RAVCUKOVA Barbora PLAIASU Vasilica OCHIANA Diana GHERGHINA Ioan FREIBERGER Tomáš

  Article in Periodical

  JOURNAL OF CLINICAL IMMUNOLOGY, year: 2014, volume: 34, edition: 2, DOI

2013

• Association between Low Levels of Mannan-Binding Lectin and Markers of Autoimmune Thyroid Disease in Pregnancy

  POTLUKOVA Eliska FREIBERGER Tomáš LIMANOVA Zdenka JISKRA Jan TELICKA Zdenek BARTAKOVA Jana SPRINGER Drahomira VITKOVA Hana TRENDELENBURG Marten

  Article in Periodical

  PLoS One, year: 2013, volume: 8, edition: 12, DOI