Zobrazeno 1 - 10
of 84
pro vyhledávání: '"Petr Kuglík"'
Autor:
Jan Smetana, Vladimira Vallova, Marketa Wayhelova, Eva Hladilkova, Hana Filkova, Vera Horinova, Petr Broz, Aneta Mikulasova, Renata Gaillyova, Petr Kuglík
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Alport syndrome with intellectual disability (ATS-ID, AMME complex; OMIM #300194) is an X-linked contiguous gene deletion syndrome associated with an Xq22.3 locus mainly characterized by hematuria, renal failure, hearing loss/deafness, neurodevelopme
Externí odkaz:
https://doaj.org/article/553c39dc21554bb8bf291f2161880eb2
Publikováno v:
Molecular Cytogenetics, Vol 11, Iss 1, Pp 1-6 (2018)
Abstract Background Catastrophic chromosomal event known as chromothripsis was proven to be a significant hallmark of poor prognosis in several cancer diseases. While this phenomenon is very rare in among multiple myeloma (MM) patients, its presence
Externí odkaz:
https://doaj.org/article/453fdb67fa154f95a42da5e2571514d9
Autor:
Tereza Kučírková, Hana Lejdarova, Veronika Oralova, Eva Matalová, Serhiy Forostyak, Petr Kuglík, Zdenek Koristek, Veronika Pospisilova, Ladislava Vymetalova, Eva Makaturova, Lucia Knopfová, Tomas Kasko, Petr Beneš
Publikováno v:
Neurochemical Research. 45:204-214
Neurodegenerative disorders present a broad group of neurological diseases and remain one of the greatest challenges and burdens to mankind. Maladies like amyotrophic lateral sclerosis, Alzheimer's disease, stroke or spinal cord injury commonly featu
Autor:
Petr Broz, Marketa Wayhelova, Klara Drabova, Dominika Loubalova, Vladimíra Vallová, Renata Gaillyová, Jan Smetana, Hana Filková, Petr Kuglík, Aneta Mikulasova
Publikováno v:
Journal of human genetics. 67(4)
Pathogenic sequence variant in the GNAI1 gene were recently introduced as a cause of novel syndrome with a manifestation of variable developmental delay and autistic features. In our study, we report a case of monozygotic twins with severe intellectu
Autor:
Lukáš, Sourada, Petr, Kuglík
Publikováno v:
Casopis lekaru ceskych. 159(2)
Aging is an extremely complex phenomenon that has many manifestations at the molecular, cellular, and whole-body levels, and in some form involves virtually all living beings. It is a process characterized by a general progressive deterioration of th
Autor:
Marcela Vilémová, Jan Oppelt, Vladimíra Vallová, Hana Polackova, Michal Ryzí, Petr Kuglík, Lenka Krskova, Eva Hladílková, Renata Gaillyová, Marketa Wayhelova
Publikováno v:
Neurogenetics. 21(4)
Pathogenic sequence variants in the IQ motif– and Sec7 domain–containing protein 2 (IQSEC2) gene have been confirmed as causative in the aetiopathogenesis of neurodevelopmental disorders (intellectual disability, autism) and epilepsy. We report o
Autor:
Graham Jackson, Martina Almáši, Pavla Všianská, Christopher P. Wardell, Faith E. Davies, Brian A Walker, Gareth J. Morgan, Roman Hájek, Eileen M Boyle, Zuzana Kufova, Viera Sandecká, Jan Smetana, Petr Kuglík, Alexander Murison, Aneta Mikulasova, Evzen Gregora, Ludek Pour
Publikováno v:
Haematologica
Monoclonal gammopathy of undetermined significance is a pre-malignant precursor of multiple myeloma with a 1% risk of progression per year. Although targeted analyses have shown the presence of specific genetic abnormalities such as IGH translocation
Autor:
Marketa Wayhelova, Petr Kuglík, Renata Gaillyová, Jan Smetana, Eva Hladílková, Vladimíra Vallová, Marta Hanáková, Marcela Vilémová, Petra Nikolova, Barbora Gromesova, Hana Filková
Publikováno v:
BMC Medical Genomics
BMC Medical Genomics, Vol 12, Iss 1, Pp 1-11 (2019)
BMC Medical Genomics, Vol 12, Iss 1, Pp 1-11 (2019)
Background Chromosomal microarray analysis has been shown to be a valuable and cost effective assay for elucidating copy number variants (CNVs) in children with intellectual disability and developmental delay (ID/DD). Methods In our study, we perform
Autor:
Petra Nikolova, Jan Smetana, Eva Makaturova, Marketa Wayhelova, Jan Oppelt, Renata Gaillyová, Hana Filková, Petr Kuglík, Rastislav Beharka, Eva Hladílková
Publikováno v:
Molecular Medicine Reports
De novo sequence variants, including truncating and splicing variants, in the additional sex-combs like 3 gene (ASXL3) have been described as the cause of Bainbridge-Ropers syndrome (BRS). This pathology is characterized by delayed psychomotor develo
Genomewide profiling of copy-number alteration in monoclonal gammopathy of undetermined significance
Autor:
Marek Wrobel, Brian A Walker, Roman Hájek, Petr Kessler, Helena Janyšková, Gareth J. Morgan, Christopher P. Wardell, Zuzana Kufova, Jiri Jarkovsky, Evzen Gregora, Jan Smetana, Viera Sandecká, Martina Almáši, Marketa Wayhelova, Petr Kuglík, Aneta Mikulasova
Publikováno v:
European Journal of Haematology. 97:568-575
Monoclonal gammopathy of undetermined significance (MGUS) is a benign condition with an approximate 1% annual risk of symptomatic plasma cell disorder development, mostly to multiple myeloma (MM). We performed genomewide screening of copy-number alte