MUDr. Renata Gaillyová, Ph.D.

2017

• Klinické a genetické charakteristiky mutace T309I-Kv7.1 asociované se syndromem dlouhého QT

  ŠATKOVÁ Júlia BÉBAROVÁ Markéta ANDRŠOVÁ Irena VALÁŠKOVÁ Iveta SYNKOVÁ Iva GAILLYOVÁ Renata VÍT Pavel NOVOTNÝ Tomáš

  Appeared in Conference without Proceedings

  Year: 2017, type: Appeared in Conference without Proceedings

• T309I-Kv7.1 mutation as a feasible founder LQT1 mutation: clinical, genetic and biophysical analysis

  BÉBAROVÁ Markéta VEJMĚLEK Adam HOŠEK Jan ANDRŠOVÁ Irena VALÁŠKOVÁ Iveta GAILLYOVÁ Renata VÍT Pavel NOVOTNÝ Tomáš

  Conference abstract

  Year: 2017, type: Conference abstract

• The clinical impact of targeted „next-generation“ sequencing in molecular diagnostics of intellectual disabilities and multiple congenital abnormalities

  WAYHELOVÁ Markéta OPPELT Jan SMETANA Jan PARDY Filip FILKOVÁ Hana GAILLYOVÁ Renata KUGLÍK Petr

  Appeared in Conference without Proceedings

  Year: 2017, type: Appeared in Conference without Proceedings

• 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

• Xeroderma pigmentosum, pachyonychia congenita - kazuistiky

  NĚMEČKOVÁ Jitka GAILLYOVÁ Renata BUČKOVÁ Hana PINKOVÁ Blanka BORSKÁ Romana KOPEČKOVÁ Lenka FAJKUSOVÁ Lenka

  Year: 2017, type:

2016

• Autosomal recessive congenital ichthyoses in the Czech Republic

  BUČKOVÁ Hana NOSKOVÁ Hana BORSKÁ Romana RÉBLOVÁ Kamila PINKOVÁ B. ZAPLETALOVÁ Eva KOPEČKOVÁ L. HORKÝ Ondřej NĚMEČKOVÁ Jitka GAILLYOVÁ Renata NAGY Z. VESELÝ Karel HERMANOVÁ Markéta STEHLÍKOVÁ Kristýna FAJKUSOVÁ Lenka

  Article in Periodical

  British Journal of Dermatology, year: 2016, volume: 174, edition: 2, DOI

• CARDIAC TRANSPLANTATION AND CARDIAC CELLULAR PROGENITOR ANALYSIS IN DYSTROPHIN CARDIOMYOPATHY

  PEŠL Martin JELÍNKOVÁ Šárka HOLICKÁ Mária ŽAMPACHOVÁ Víta GAILLYOVÁ Renata NĚMEC Petr KREJČÍ Jan DVOŘÁK Petr STÁREK Zdeněk ROTREKL Vladimír

  Conference abstract

  Year: 2016, type: Conference abstract

• Mutace T309I jako možná „founder„ mutace syndromu dlouhého intervalu QT typu I

  BÉBAROVÁ Markéta VEJMĚLEK Adam HOŠEK Jan ANDRŠOVÁ Irena VALÁŠKOVÁ Iveta GAILLYOVÁ Renata VÍT Pavel NOVOTNÝ Tomáš

  Conference abstract

  Year: 2016, type: Conference abstract

• Ten years of DNA diagnostics of epidermolysis bullosa in the Czech Republic

  KOPEČKOVÁ Lenka BUČKOVÁ Hana KÝROVÁ Jana GAILLYOVÁ Renata NĚMEČKOVÁ Jitka JEŘÁBKOVÁ Barbora VESELÝ Karel STEHLÍKOVÁ Kristýna FAJKUSOVÁ Lenka

  Article in Periodical

  British Journal of Dermatology, year: 2016, volume: 174, edition: 6, DOI

2015

• Autosomal recessive congenital ichthyoses in the Czech Republic

  FAJKUSOVÁ Lenka BORSKÁ Romana NOSKOVÁ Hana KOPEČKOVÁ Lenka ŠILEROVÁ Pavla BUČKOVÁ Hana KÝROVÁ Jana GAILLYOVÁ Renata NĚMEČKOVÁ Jitka

  Conference abstract

  Year: 2015, type: Conference abstract