Zobrazeno 1 - 10
of 80
pro vyhledávání: '"Petr Kuglík"'
Autor:
Marketa Wayhelova, Vladimira Vallova, Petr Broz, Aneta Mikulasova, Jan Smetana, Hana Dynkova Filkova, Dominika Machackova, Kristina Handzusova, Renata Gaillyova, Petr Kuglik
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-12 (2024)
Abstract Background Neurodevelopmental disorders (NDDs) and/or associated multiple congenital abnormalities (MCAs) represent a genetically heterogeneous group of conditions with an adverse prognosis for the quality of intellectual and social abilitie
Externí odkaz:
https://doaj.org/article/46268ac87d8b4810be2aceadfdb01208
Autor:
Aneta Mikulasova, Christopher P. Wardell, Alexander Murison, Eileen M. Boyle, Graham H. Jackson, Jan Smetana, Zuzana Kufova, Ludek Pour, Viera Sandecka, Martina Almasi, Pavla Vsianska, Evzen Gregora, Petr Kuglik, Roman Hajek, Faith E. Davies, Gareth J. Morgan, Brian A. Walker
Publikováno v:
Haematologica, Vol 102, Iss 9 (2017)
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
Externí odkaz:
https://doaj.org/article/b9c9544af99e4b429a5b86e568baa315
Autor:
Lenka Kubiczkova, Fedor Kryukov, Ondrej Slaby, Elena Dementyeva, Jiri Jarkovsky, Jana Nekvindova, Lenka Radova, Henrieta Greslikova, Petr Kuglik, Eva Vetesnikova, Ludek Pour, Zdenek Adam, Sabina Sevcikova, Roman Hajek
Publikováno v:
Haematologica, Vol 99, Iss 3 (2014)
Multiple myeloma still remains incurable in the majority of cases prompting a further search for new and better prognostic markers. Emerging evidence has suggested that circulating microRNAs can serve as minimally invasive biomarkers for multiple mye
Externí odkaz:
https://doaj.org/article/8f3f68e7ced84c7bb0ffbab5100aec83
Autor:
Ludek Pour, Sabina Sevcikova, Henrieta Greslikova, Renata Kupska, Petra Majkova, Lenka Zahradova, Viera Sandecka, Zdenek Adam, Marta Krejci, Petr Kuglik, Roman Hajek
Publikováno v:
Haematologica, Vol 99, Iss 2 (2014)
Even in the era of new drugs, multiple myeloma patients with extramedullary relapse have a poor prognosis. Our goal was to analyze the frequency and outcome of extramedullary relapse occurring in relapsed multiple myeloma patients. In total, we analy
Externí odkaz:
https://doaj.org/article/0766d57b3426413996d8c3f579902bc9
Autor:
Fiona M. Ross, Hervé Avet-Loiseau, Geneviève Ameye, Norma C. Gutiérrez, Peter Liebisch, Sheila O’Connor, Klara Dalva, Sonia Fabris, Adele M. Testi, Marie Jarosova, Clare Hodkinson, Anna Collin, Gitte Kerndrup, Petr Kuglik, Dariusz Ladon, Paolo Bernasconi, Brigitte Maes, Zuzana Zemanova, Kyra Michalova, Lucienne Michau, Kai Neben, N. Emil U. Hermansen, Katrina Rack, Alberto Rocci, Rebecca Protheroe, Laura Chiecchio, Hélène A Poirel, Pieter Sonneveld, Mette Nyegaard, Hans E. Johnsen
Publikováno v:
Haematologica, Vol 97, Iss 8 (2012)
The European Myeloma Network has organized two workshops on fluorescence in situ hybridization in multiple myeloma. The first aimed to identify specific indications and consensus technical approaches of current practice. A second workshop followed a
Externí odkaz:
https://doaj.org/article/2e46233e5d1b48ab884e4aedb089e04d
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