MUDr. Jana Šoukalová

2023

• Genetic findings in Czech patients with limb girdle muscular dystrophy

  ZÍDKOVÁ Jana KRAMÁŘOVÁ Tereza KOPČILOVÁ Johana RÉBLOVÁ Kamila HABERLOVÁ Jana MAZANEC Radim VOHÁŇKA Stanislav GŘEGOŘOVÁ Andrea LANGOVÁ Martina HONZÍK Tomáš ŠOUKALOVÁ Jana OŠLEJŠKOVÁ Hana SOLAŘOVÁ Pavla VYHNÁLKOVÁ Emilie FAJKUSOVÁ Lenka

  Article in Periodical

  Clinical Genetics, year: 2023, volume: 104, edition: 5, DOI

2022

• Next-generation sequencing in children with epilepsy: The importance of precise genotype–phenotype correlation

  HORÁK Ondřej BUREŠOVÁ Martina KOLÁŘ Senad ŠPANĚLOVÁ Klára JEŘÁBKOVÁ Barbora GAILLYOVÁ Renata ČESKÁ Katarína RÉBLOVÁ Kamila ŠOUKALOVÁ Jana ZÍDKOVÁ Jana FAJKUSOVÁ Lenka OŠLEJŠKOVÁ Hana REKTOR Ivan DANHOFER Pavlína

  Article in Periodical

  EPILEPSY & BEHAVIOR, year: 2022, volume: 128, edition: March 2022, DOI

• WNT10A variants: following the pattern of inheritance in tooth agenesis and self-reported family history of cancer

  BIELIK Peter BONCZEK Ondřej KREJČÍ Přemysl ZEMAN Tomáš IZAKOVIČOVÁ HOLLÁ Lydie ŠOUKALOVÁ Jana VANĚK Jiří VOJTĚŠEK Bořivoj LOCHMAN Jan BALCAR Vladimír Josef ŠERÝ Omar

  Article in Periodical

  Clinical Oral Investigations, year: 2022, volume: 26, edition: 12, DOI

2020

• Cytogenetické a molekulárně genetické nálezy u pacientky s ICF2 syndromem - kazuistika

  NAVAŘÍKOVÁ Marta ŠOUKALOVÁ Jana GROMESOVÁ GROMBIŘÍKOVÁ Hana FILKOVÁ Hana HLADÍLKOVÁ Eva WAYHELOVÁ Markéta KRÁLOVÁ Monika KRMELOVÁ P. KLUKOVÁ Hana FREIBERGER Tomáš SCHNEIDEROVÁ Helena KUGLÍK Petr

  Conference abstract

  Year: 2020, type: Conference abstract

• 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