Z
Zdenek Sedlacek
Researcher at Charles University in Prague
Publications - 75
Citations - 16450
Zdenek Sedlacek is an academic researcher from Charles University in Prague. The author has contributed to research in topics: Gene & Germline mutation. The author has an hindex of 27, co-authored 73 publications receiving 15743 citations. Previous affiliations of Zdenek Sedlacek include University of California, Irvine & Lincoln's Inn.
Papers
More filters
Journal ArticleDOI
A 15 Mb large paracentric chromosome 21 inversion identified in Czech population through a pair of flanking duplications.
Jana Drabova,Marie Trkova,Miroslava Hancarova,Drahuse Novotna,Michaela Hejtmankova,Marketa Havlovicova,Zdenek Sedlacek +6 more
TL;DR: The identification of inv(21)(q21.1q22.11) supports the notion that paracentric inversions are the most common form of chromosomal variation and that some of them may still remain undetected.
Journal ArticleDOI
A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy - case report and review of the literature.
Pavel Tesner,Jana Drabova,Miroslav Stolfa,Martin Kudr,Martin Kyncl,Veronika Moslerová,Drahuse Novotna,Radka Kremlikova Pourova,Eduard Kocarek,Tereza Rasplickova,Zdenek Sedlacek,Marketa Vlckova +11 more
TL;DR: Observations indicate that for the assessment of prognosis, especially with respect to intellectual functioning, the level of mosaicism could be more important than the extent of amplification and the number of extra copies.
Journal ArticleDOI
Molecular Cytogenetic Diagnostics of Marker Chromosomes: Analysis in Four Prenatal Cases and Long-Term Clinical Evaluation of Carriers.
Pavel Tesner,Marketa Vlckova,Jana Drabova,Jan Vseticka,Anna Klimova,Jana Lastuvkova,Jana Zidovska,Radka Kremlikova Pourova,Miroslava Hancarova,Zdenek Sedlacek,Eduard Kocarek +10 more
TL;DR: This work illustrates the effectiveness of FISH on 4 prenatally identified de novo mosaic sSMCs derived from chromosomes 13/21, X, 3, and 17, and shows no abnormality till the last examination at the age of 4 years.
Exprese genů PAX5 a SHB, analýza mutací genu p53 a exprese proteinu p53 ve tkáni povrchových nádorů močového měchýře
M. Babjuk,V. Soukup,J. Mareš,J. Dušková,Zdenek Sedlacek,Marie Trkova,J. Dvořáček,T. Hanuš,J. Novák,Ctibor Povýšil +9 more
TL;DR: In this paper, the authors show that the single strand conformation polymorphism (SSCP) polymorphism can be used to detect the presence of cancer cells in the human body.
Journal ArticleDOI
A novel variant of C12orf4 in a consanguineous Armenian family confirms the etiology of autosomal recessive intellectual disability type 66 with delineation of the phenotype
Miroslava Hancarova,Davit Babikyan,Sarka Bendova,Susanna Midyan,Darina Prchalova,Gohar R. Shahsuvaryan,Viktor Stranecky,Tamara Sarkisian,Zdenek Sedlacek +8 more
TL;DR: Intellectual disability is a feature of many rare diseases caused by thousands of genes, and genetic heterogeneity implies that pathogenic variants in a specific gene are found only in a small number of patients, and difficulties arise in the definition of prevailing genotype and characteristic phenotype associated with that gene.