Mgr. Lucie Grodecká, Ph.D.

2017

• Detailed molecular characterization of a novel IDS exonic mutation associated with multiple pseudoexon activation

  GRODECKÁ Lucie KOVÁČOVÁ Tatiana KRAMÁREK Michal SENECA S. STOUFFS K. DE LAET C. MAJER F. KRŠJAKOVÁ Tereza HUJOVÁ Pavla HRNČÍŘOVÁ Kristýna SOUČEK Přemysl LISSENS W. BURATTI E. FREIBERGER Tomáš

  Article in Periodical

  JOURNAL OF MOLECULAR MEDICINE-JMM, year: 2017, volume: 95, edition: 3, DOI

• HAE caused by a novel deep intronic mutation in SERPING1 indroducing a cryptic exon.

  GROMBIŘÍKOVÁ Hana HUJOVÁ Pavla SOUČEK Přemysl GRODECKÁ Lucie RAVČUKOVÁ Barbora KOVÁČOVÁ Tatiana KRSJAKOVA T KUKLÍNEK Pavel HAKL Roman LITZMAN Jiří FREIBERGER Tomáš

  Conference abstract

  Year: 2017, type: Conference abstract

• New deep intronic mutation c.1029+384 A>G in SERPING1 gene creates de novo donor splice site and causes aberrant splicing

  HUJOVÁ Pavla GROMBIŘÍKOVÁ Hana SOUČEK Přemysl GRODECKÁ Lucie RAVČUKOVÁ Barbora KUKLÍNEK Pavel HAKL Roman FREIBERGER Tomáš

  Conference abstract

  Year: 2017, type: Conference abstract

• Systematic analysis of splicing defects in selected primary immunodeficiencies-related genes

  GRODECKÁ Lucie HUJOVÁ Pavla KRAMÁREK Michal KRSJAKOVA Tereza KOVÁČOVÁ Tatiana VONDRÁŠKOVÁ Katarína RAVCUKOVA Barbora HRNČÍŘOVÁ Kristýna SOUČEK Přemysl FREIBERGER Tomáš

  Article in Periodical

  Clinical Immunology, year: 2017, volume: 180, edition: July, DOI

2015

• Effect of substituents in the first nucleotide of exon on pre-mRNA splicing

  LOCKEROVÁ Pavla GRODECKÁ Lucie HRNČÍŘOVÁ Kristýna FREIBERGER Tomáš

  Conference abstract

  Year: 2015, type: Conference abstract

2014

• 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

  Article in Periodical

  PLoS One, year: 2014, volume: 9, edition: 2, DOI

• 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

2012

• Sequence variants of the TNFRSF13B gene in Czech CVID and IgAD patients in the context of other populations

  FREIBERGER Tomáš RAVČUKOVÁ Barbora GRODECKÁ Lucie PIKULOVÁ Z. ŠTIKAROVSKÁ D. PEŠÁK Sáva KUKLÍNEK Pavel JARKOVSKÝ Jiří SALZER U. LITZMAN Jiří

  Article in Periodical

  Human Immunology, year: 2012, volume: 73, edition: 11, DOI

2011

• No evidence for linkage between the hereditary angiooedema clinical phenotype and the BDKR1, BDKR2, ACE or MBL2 gene.

  FREIBERGER Tomáš GROMBIŘÍKOVÁ Hana RAVČUKOVÁ Barbora JARKOVSKÝ Jiří KUKLÍNEK Pavel KRYŠTŮFKOVÁ Olga HANZLÍKOVÁ Jana DAŇKOVÁ Eva KOPECKÝ Otakar ZACHOVÁ Radana LAHODNÁ Marie VAŠÁKOVÁ Martina GRODECKÁ Lucie LITZMAN Jiří

  Article in Periodical

  Scandinavian journal of immunology, year: 2011, volume: 74, edition: 1, DOI