Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Renata Gaillyova"'
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:
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
Autor:
Marketa Wayhelova, Jan Smetana, Vladimira Vallova, Eva Hladilkova, Hana Filkova, Marta Hanakova, Marcela Vilemova, Petra Nikolova, Barbora Gromesova, Renata Gaillyova, Petr Kuglik
Publikováno v:
BMC Medical Genomics, Vol 12, Iss 1, Pp 1-11 (2019)
Abstract 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, w
Externí odkaz:
https://doaj.org/article/42c14baaa91d4bca8a0a64c3d64959f7
Autor:
Sarka Jelinkova, Petr Fojtik, Aneta Kohutova, Aleksandra Vilotic, Lenka Marková, Martin Pesl, Tereza Jurakova, Miriama Kruta, Jan Vrbsky, Renata Gaillyova, Iveta Valášková, Ivan Frák, Alain Lacampagne, Giancarlo Forte, Petr Dvorak, Albano C. Meli, Vladimir Rotrekl
Publikováno v:
Cells, Vol 8, Iss 1, p 53 (2019)
Recent data on Duchenne muscular dystrophy (DMD) show myocyte progenitor’s involvement in the disease pathology often leading to the DMD patient’s death. The molecular mechanism underlying stem cell impairment in DMD has not been described. We cr
Externí odkaz:
https://doaj.org/article/281f75eead514e94bca7293ac89a6fc7
Autor:
Marketa Wayhelova, Vladimira Vallova, Petr Broz, Aneta Mikulasova, Dominika Machackova, Hana Filkova, Jan Smetana, Alena Takacsova, Renata Gaillyova, Petr Kuglik
Publikováno v:
Molecular Medicine Reports. 27
Autor:
Pavel Diblik, Bohdan Kousal, Michaela Hejtmankova, Lubica Dudakova, Renata Gaillyova, Michel Michaelides, Petra Liskova
Publikováno v:
Graefe's Archive for Clinical and Experimental Ophthalmology. 254:1833-1839
The aim of this study was to determine the molecular genetic basis of an early-onset severe retinal dystrophy in three unrelated consecutive patients of Czech origin and to describe their ocular phenotype. DNA samples from two probands were analyzed
Autor:
Irena, Andrsova, Iveta, Valaskova, Peter, Kubus, Pavel, Vit, Renata, Gaillyova, Jitka, Kadlecova, Lenka, Manouskova, Tomas, Novotny
Publikováno v:
Pacing and clinical electrophysiology : PACE. 35(7)
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare hereditary arrhythmia. The onset of clinical symptoms usually occurs during childhood, and is typically related to exercise. The aim of our study was to describe the clinical char
Autor:
Tomas, Novotny, Jitka, Kadlecova, Martina, Raudenska, Alexandra, Bittnerova, Irena, Andrsova, Alena, Florianova, Anna, Vasku, Petr, Neugebauer, Milan, Kozak, Milan, Sepsi, Lubomir, Krivan, Renata, Gaillyova, Jindrich, Spinar
Publikováno v:
Pacing and clinical electrophysiology : PACE. 34(6)
Observations from population-based studies demonstrated a strong genetic component of sudden cardiac death. The aim of this study was to test the hypothesis that ion channel genes mutations are more common in ventricular fibrillation (VF) survivors w
Autor:
Iva Synková, Markéta Bébarová, Irena Andršová, Larisa Chmelikova, Olga Švecová, Jan Hošek, Michal Pásek, Pavel Vít, Iveta Valášková, Renata Gaillyová, Rostislav Navrátil, Tomáš Novotný
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-13 (2021)
Abstract The variant c.926C > T (p.T309I) in KCNQ1 gene was identified in 10 putatively unrelated Czech families with long QT syndrome (LQTS). Mutation carriers (24 heterozygous individuals) were more symptomatic compared to their non-affected relati
Externí odkaz:
https://doaj.org/article/78136d3d7b394d9da2840cbe7a5654c8
Autor:
Iva Synková, Markéta Bébarová, Irena Andršová, Larisa Chmelikova, Olga Švecová, Jan Hošek, Michal Pásek, Pavel Vít, Iveta Valášková, Renata Gaillyová, Rostislav Navrátil, Tomáš Novotný
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-3 (2021)
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
Externí odkaz:
https://doaj.org/article/7c77c1c50fb8444f9500e1f8d6f47bde