MUDr. Jana Šoukalová

2020

• The clinical utility of targeted NGS in neurodevelopmental disorders: a case of a girl with pontocerebellar hypoplasia caused by TSEN54 gene pathogenic variants

  WAYHELOVÁ Markéta VALLOVÁ Vladimíra HLADÍLKOVÁ Eva FILKOVÁ Hana OPPELT Jan ŠOUKALOVÁ Jana KUGLÍK Petr

  Conference abstract

  Year: 2020, type: Conference abstract

2019

• Novel SAMD9 Mutation in a Patient With Immunodeficiency, Neutropenia, Impaired Anti-CMV Response, and Severe Gastrointestinal Involvement

  FORMANKOVA Renata KANDEROVA Veronika RACKOVA Marketa SVATON Michael BRDICKA Tomas RIHA Petr KESLOVÁ Petra MEJSTRIKOVA Ester ZALIOVA Marketa FREIBERGER Tomáš GROMBIŘÍKOVÁ Hana ZEMANOVA Zuzana VLKOVÁ Marcela FENCL Filip COPOVA Ivana BRONSKY Jiri JABANDŽIEV Petr SEDLACEK Petr ŠOUKALOVÁ Jana ZAPLETAL Ondrej STARY Jan TRKA Jan KALINA Tomas KRAMARZOVA Karolina HLAVÁČKOVÁ Eva LITZMAN Jiří FRONKOVA Eva

  Article in Periodical

  Frontiers in Immunology, year: 2019, volume: 10, edition: SEP 18 2019, DOI

2018

• Next generation sequencing reveals a novel nonsense mutation in MSX1 gene related to oligodontia

  BONCZEK Ondřej BIELIK Peter KREJČÍ Přemysl ZEMAN Tomáš IZAKOVIČOVÁ HOLLÁ Lydie ŠOUKALOVÁ Jana VANĚK Jiří TEREZA Gerguri BALCAR Vladimír Josef ŠERÝ Omar

  Article in Periodical

  PLOS ONE, year: 2018, volume: 13, edition: 9, DOI

• Tuberózní skleróza - od diagnostiky dítěte k terapii rodiče

  VEJMĚLKOVÁ Klára ZITTERBART Karel GAILLYOVÁ Renata BUČKOVÁ Hana ŠOUKALOVÁ Jana KEREKES Arpád ŠTĚRBA Jaroslav

  Conference abstract

  Year: 2018, type: Conference abstract

2017

• Case report: rapid and durable response to PDGFR targeted therapy in a child with refractory multiple infantile myofibromatosis and a heterozygous germline mutation of the PDGFRB gene

  MÚDRY Peter SLABÝ Ondřej NERADIL Jakub ŠOUKALOVÁ Jana MELICHÁRKOVÁ Kristýna ROHLEDER Ondřej JEŽOVÁ Marta SEEHOFNEROVÁ Anna PONECHAL MICHU Elleni VESELSKÁ Renata ŠTĚRBA Jaroslav

  Article in Periodical

  BMC Cancer, year: 2017, volume: 17, edition: 119, DOI

• The clinical utility of array-CGH and targeted NGS in idiopathic intellectual disabilities and developmental delays: a case report of SCN2A p.Ala263Val variant

  WAYHELOVÁ Markéta OPPELT Jan VESELÁ Denisa SMETANA Jan PARDY Filip FILKOVÁ Hana MATUCHOVÁ Dita ŠOUKALOVÁ Jana GAILLYOVÁ Renata KUGLÍK Petr

  Conference abstract

  Year: 2017, type: Conference abstract

2015

• Novel PAX9 gene mutation in Czech monozygotic twins with oligodontia

  BONCZEK Ondřej ŠERÝ Omar HLOUŠKOVÁ Alena LOCHMAN Jan IZAKOVIČOVÁ HOLLÁ Lydie ŠOUKALOVÁ Jana ŠTEMBÍREK Jan MÍŠEK Ivan ČERNOCHOVÁ Pavlína KREJČÍ Přemysl VANĚK Jiří

  Conference abstract

  Year: 2015, type: Conference abstract

• Novel PAX9 gene polymorphisms and mutations and susceptibility to tooth agenesis in the Czech population

  HLOUŠKOVÁ Alena BONCZEK Ondřej IZAKOVIČOVÁ HOLLÁ Lydie LOCHMAN Jan ŠOUKALOVÁ Jana ŠTEMBÍREK Jan MÍŠEK Ivan ČERNOCHOVÁ Pavlína KREJČÍ Přemysl VANĚK Jiří ŠERÝ Omar

  Article in Periodical

  Neuroendocrinology Letters, year: 2015, volume: 36, edition: 5

• Sequencing analysis of PAX9 and MSX1 genes in the Czech population

  BONCZEK Ondřej ŠERÝ Omar HLOUŠKOVÁ Alena LOCHMAN Jan IZAKOVIČOVÁ HOLLÁ Lydie ŠOUKALOVÁ Jana ŠTEMBÍREK Jan MÍŠEK Ivan ČERNOCHOVÁ Pavlína KREJČÍ Přemysl VANĚK Jiří

  Article in Proceedings

  Morphology 2015, year: 2015

2012

• Unique Combination of 22q11 and 14qter Microdeletion Syndromes Detected Using Oligonucleotide Array-CGH

  HLADÍLKOVÁ Eva VRANOVÁ Vladimíra ŠOUKALOVÁ Jana SLÁMOVÁ Iva VILÉMOVÁ Marcela GAILLYOVÁ Renata KUGLÍK Petr

  Article in Periodical

  Molecular Syndromology, year: 2012, volume: 2011;2, edition: No. 2, DOI