Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Jan Radvansky"'
Autor:
Zuzana Odnogova, Roland Pálffy, Ludevit Kadasi, Gabriel Minarik, Marian Baldovic, Jan Radvansky, H Poláková, Peter Resko
Publikováno v:
General physiology and biophysics. 30:379-388
Charcot-Marie-Tooth disease (CMT) and related peripheral neuropathies are the most commonly inherited neurological disorders in humans, characterized by clinical and genetic heterogeneity. The most prevalent clinical entities belonging to this group
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9bdb08ffebc27c1f328dddc81e02d9f
https://doi.org/10.4149/gpb_2011_04_379
https://doi.org/10.4149/gpb_2011_04_379
Publikováno v:
Molecular and Cellular Probes. 25:182-185
Myotonic dystrophy (DM) is a common neuromuscular disorder comprising at least two genetically different forms. DM1 is caused by expansion of a (CTG)n repeat in the DMPK gene, while DM2 is caused by expansion of a (CCTG)n part of a complex repetitive
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8fa399f905118a3426b27cd79cbfb261
https://doi.org/10.1016/j.mcp.2011.04.006
https://doi.org/10.1016/j.mcp.2011.04.006
Publikováno v:
Genetic Testing and Molecular Biomarkers. 15:133-136
Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are the most common autosomal dominant neuromuscular disorders in adults. DM1 is caused by an unstable expansion of the (CTG)(n) repeat tract in the DMPK gene, whereas DM2 is caused by an unstable expa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a75c265a815abee3e136852579b17528
https://doi.org/10.1089/gtmb.2010.0127
https://doi.org/10.1089/gtmb.2010.0127
Autor:
Ludevit Kadasi, Jan Radvansky, Robert Aquaron, H Poláková, Andrea Zatkova, Tatiana Sedlackova, Ismail Dursun, Martina Nemethova, Jeannette L. Usher
Publikováno v:
JIMD Reports ISBN: 9783642257513
Enzymatic loss in alkaptonuria (AKU), an autosomal recessive disorder, is caused by mutations in the homogentisate 1,2 dioxygenase (HGD) gene, which decrease or completely inactivate the function of the HGD protein to metabolize homogentisic acid (HG
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::590eeba9621c6538be09bb7c14ead651
https://doi.org/10.1007/8904_2011_68
https://doi.org/10.1007/8904_2011_68
Publikováno v:
Diagnostic molecular pathology : the American journal of surgical pathology, part B. 20(1)
Myotonic dystrophy type 1 (DM1) is caused by expansion of the CTG trinucleotide repeat in the DMPK gene. Our study focuses on the effect of recently described unusual sequence interruptions inside the CTG tract on conventional polymerase chain reacti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f13cfb33c9e4eb804b5e4e764a13159d
https://pubmed.ncbi.nlm.nih.gov/21326039
https://pubmed.ncbi.nlm.nih.gov/21326039
Autor:
Jan Radvansky, Ludevit Kadasi
Publikováno v:
Genetic testing and molecular biomarkers. 14(6)
Myotonic dystrophy (DM) comprises at least two genetically distinct forms, both of which are caused by expansions of microsatellite repeats. The expansion of a CTG repeat in the DMPK gene leads to the first genetic form (DM type 1), and the expansion
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2fa61bb32ae38435b81cf2ea98473f87
https://pubmed.ncbi.nlm.nih.gov/20939737
https://pubmed.ncbi.nlm.nih.gov/20939737
Publikováno v:
Analytical biochemistry. 398(1)
Since its introduction, high-resolution melting (HRM) analysis has been used for genotyping of various types of sequence alterations. In this study, we report the use of HRM for genotyping of the 1-kb insertion/deletion polymorphism, involving a prob
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70c58ddfe06d1a0116e32e9c4f23505b
https://pubmed.ncbi.nlm.nih.gov/19903450
https://pubmed.ncbi.nlm.nih.gov/19903450