Mgr. Eva Hladílková, Ph.D.

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

• 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

• 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

• "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

• 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

• The clinical benefit of array-based comparative genomic hybridization for detection of copy number variants in Czech children with intellectual disability and developmental delay

  WAYHELOVÁ Markéta SMETANA Jan VALLOVÁ Vladimíra HLADÍLKOVÁ Eva FILKOVÁ Hana HANÁKOVÁ Marta VILÉMOVÁ Marcela NIKOLOVÁ Petra GROMESOVÁ Barbora GAILLYOVÁ Renata KUGLÍK Petr

  Article in Periodical

  BMC MEDICAL GENOMICS, year: 2019, volume: 12, edition: 1, DOI

2015

• A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms

  HLADÍLKOVÁ Eva BAROYA Tuva FANNEMELA Madeleine VALLOVÁ Vladimíra MISCEO Doriana BRYND Vesna SLÁMOVÁ Iva PRÁŠILOVÁ Šárka KUGLÍK Petr FRENGEN Eirik

  Article in Periodical

  MOLECULAR CYTOGENETICS, year: 2015, volume: 8, edition: 57, DOI

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

2011

• Analysis of chromosomal aberrations in patients with mental retardation using array-CGH technique: a single Czech Centre experience

  ZRNOVÁ Eva VRANOVÁ Vladimíra SLÁMOVÁ Iva GAILLYOVÁ Renata KUGLÍK Petr

  Article in Periodical

  Folia biologica, year: 2011, volume: 2011, edition: 57 No.5

• Familiální výskyt balancované a nebalancované formy translokace t(1;12) v rodině se dvěma postižnými dětmi

  ZRNOVÁ Eva VRANOVÁ Vladimíra SLÁMOVÁ Iva ŠOUKALOVÁ Jana GAILLYOVÁ Renata KUGLÍK Petr BAROY Tuva FRENGEN Eirik

  Conference abstract

  Year: 2011, type: Conference abstract