MUDr. Renata Gaillyová, Ph.D.

2019

• Molecular analysis confirmed common ancestor of 10 Czech families with long QT syndrome carrying C926T-KCNQ1 variant

  SYNKOVÁ Iva VALÁŠKOVÁ Iveta GAILLYOVÁ Renata NOVOTNÝ Tomáš BÉBAROVÁ Markéta ANDRŠOVÁ Irena FLORIANOVA A. VÍT Pavel NAVRATIL R.

  Conference abstract

  Year: 2019, type: Conference abstract

• Mutace T309I asociovaná se syndromem dlouhého QT typu 1: akumulace IKs jako mechanismus ochrany srdce proti arytmii

  BÉBAROVÁ Markéta SYNKOVÁ Iva ANDRŠOVÁ Irena BAIAZITOVA Larisa ŠVECOVÁ Olga HOŠEK Jan PÁSEK Michal VÍT Pavel VALÁŠKOVÁ Iveta GAILLYOVÁ Renata NAVRÁTIL Rostislav NOVOTNÝ Tomáš

  Conference abstract

  Year: 2019, type: Conference abstract

• Mutation R591C associated with long QT syndrome type 1: clinical, genetic, and functional analysis

  ŠVECOVÁ Olga BÉBAROVÁ Markéta BAIAZITOVA Larisa POLICAROVÁ Marcela HOŠEK Jan ANDRŠOVÁ Irena VALÁŠKOVÁ Iveta SYNKOVÁ Iva GAILLYOVÁ Renata VÍT Pavel NOVOTNÝ Tomáš

  Conference abstract

  Year: 2019, type: Conference abstract

• Novel de novo frameshift variant in the ASXL3 gene in a child with microcephaly and global developmental delay

  WAYHELOVÁ Markéta OPPELT Jan SMETANA Jan HLADÍLKOVÁ Eva FILKOVÁ Hana MAKATUROVÁ Eva NIKOLOVÁ Petra BEHARKA Rastislav GAILLYOVÁ Renata KUGLÍK Petr

  Article in Periodical

  Molecular Medicine Reports, year: 2019, volume: 20, edition: 1, DOI

• Novorozenecký screening cystické fibrózy a diagnostika CFSPID.

  BARTOŠOVÁ Jana ZEMKOVÁ D. HOLUBOVÁ Andrea GAILLYOVÁ Renata VALÁŠKOVÁ Iveta HOLČÍKOVÁ Alena MALÁ Miriam SKALICKÁ Veronika

  Article in Periodical

  Česko-slovenská pediatrie, year: 2019, volume: 74, edition: 7

• Related Encephalopathy in Family with Biotinidase Deficiency

  RYZÍ Michal GAILLYOVÁ Renata HORÁK Ondřej OŠLEJŠKOVÁ Hana

  Appeared in Conference without Proceedings

  Year: 2019, type: Appeared in Conference without Proceedings

• Targeted resequencing of genes associated with long QT syndrome in Czech patients: two newly identified likely pathogenic variants in previously investigated patient with negative results

  SYNKOVÁ Iva OSTADALOVA E. VALÁŠKOVÁ Iveta GAILLYOVÁ Renata NOVOTNÝ Tomáš ANDRŠOVÁ Irena FLORIANOVA A. VIT P.

  Conference abstract

  Year: 2019, type: Conference abstract

2018

• 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

• „Founder“ mutace asociované se syndromem dlouhého QT: Česká republika versus svět

  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

• Familiální hemofagocytující lymfohistiocytóza - od autopsie k prenatální diagnostice. Kazuistika

  JEŽOVÁ Marta GAILLYOVÁ Renata

  Article in Periodical

  Cesk Patol, year: 2017, volume: 53, edition: 1