MUDr. Renata Gaillyová, Ph.D.

2021

• Effectivity of whole-exome sequencing in copy number variant detection in children with neurodevelopmental disorders

  VALLOVÁ Vladimíra LOUBALOVÁ Dominika WAYHELOVÁ Markéta BROŽ Petr MIKULÁŠOVÁ Aneta SMETANA Jan GAILLYOVÁ Renata KUGLÍK Petr

  Conference abstract

  Year: 2021, type: Conference abstract

• Long-QT founder variant T309I-Kv7.1 with dominant negative pattern may predispose delayed afterdepolarizations under β-adrenergic stimulation

  SYNKOVÁ Iva BÉBAROVÁ Markéta ANDRŠOVÁ Irena CHMELIKOVA Larisa ŠVECOVÁ Olga HOSEK Jan PÁSEK Michal VÍT Pavel VALÁŠKOVÁ Iveta GAILLYOVÁ Renata NAVRATIL Rostislav NOVOTNÝ Tomáš

  Article in Periodical

  Nature Scientific Reports, year: 2021, volume: 11, edition: 1, DOI

• Neobvyklý cytogenetický nález u probanda s retardací psychomotorického vývoje a stigmatizací – kazuistika.

  NAVAŘÍKOVÁ Marta WAYHELOVÁ Markéta NIKOLOVÁ Pavlína VILÉMOVÁ M. FILKOVÁ Hana HLADÍLKOVÁ Eva VEČERKOVÁ P. GAILLYOVÁ Renata KUGLÍK Petr

  Conference abstract

  Year: 2021, type: Conference abstract

• Whole-exome sequencing as an effective tool for the detection of DNA sequence and structural variants in the pathogenesis of neurodevelopmental disorders

  WAYHELOVÁ Markéta VALLOVÁ Vladimíra SMETANA Jan BROŽ Petr MIKULÁŠOVÁ Aneta LOUBALOVÁ Dominika GAILLYOVÁ Renata KUGLÍK Petr

  Conference abstract

  Year: 2021, type: Conference abstract

2020

• Next generation sequencing in newborn screening for cystic fibrosis

  VINOHRADSKÁ Jana VALÁŠKOVÁ Iveta GAILLYOVÁ Renata

  Conference abstract

  Year: 2020, type: Conference abstract

• Novel Familial IQSEC2 Pathogenic Sequence Variant Associated With Neurodevelopmental Disorders and Epilepsy

  WAYHELOVÁ Markéta RYZÍ Michal OPPELT Jan HLADÍLKOVÁ Eva VALLOVÁ Vladimíra KRSKOVÁ Lenka VILÉMOVÁ Marcela POLÁČKOVÁ Hana GAILLYOVÁ Renata KUGLÍK Petr

  Article in Periodical

  Neurogenetics, year: 2020, volume: 21, edition: 4, DOI

2019

• "Two hit" model as an explanation of variable expressivity of recurrent submicroscopic chromosomal rearrangements in children with intellectual disability and developmental delay

  WAYHELOVÁ Markéta HLADÍLKOVÁ Eva VALLOVÁ Vladimíra SMETANA Jan FILKOVÁ Hana GAILLYOVÁ Renata KUGLÍK Petr

  Conference abstract

  Year: 2019, type: Conference abstract

• Dystrophin Deficiency Leads to Genomic Instability in Human Pluripotent Stem Cells via NO Synthase-Induced Oxidative Stress

  JELÍNKOVÁ Šárka KOHUTOVÁ Aneta FOJTÍK Petr KRUTÁ Miriama VILOTIĆ Aleksandra PEŠL Martin VRBSKÝ Jan GAILLYOVÁ Renata VALÁŠKOVÁ Iveta FRÁK Ivan FORTE Giancarlo DVOŘÁK Petr MELI Albano ROTREKL Vladimír MARKOVÁ Lenka JURÁKOVÁ Tereza LACAMPAGNE Alain

  Article in Periodical

  Cells, year: 2019, volume: 8, edition: 1, DOI

• EPIDEMIOLOGY OF RARE DISEASES DETECTED BY NEWBORN SCREENING IN THE CZECH REPUBLIC

  DAVID Jan CHRASTINA Petr PEŠKOVÁ Karolína KOŽICH Viktor FRIEDECKÝ David ADAM Tomáš HLÍDKOVÁ Eva VINOHRADSKÁ Hana NOVOTNÁ Dana HEDELOVÁ Monika AL TAJI Eva HOLUBOVÁ Andrea SKALICKÁ Veronika MACEK Milan GAILLYOVÁ Renata VOTAVA Felix

  Article in Periodical

  Central European journal of public health, year: 2019, volume: 27, edition: 2, DOI

• Genetické testování v predikci nádorového rizika u IBD

  ZBOŘIL Vladimír GAILLYOVÁ Renata POREDSKÁ Karolina PROKOPOVÁ Lucie

  Conference abstract

  Year: 2019, type: Conference abstract