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001-es BibID:	BIBFORM065306
Első szerző:	Pikó Henriett (molekuláris biológus)
Cím:	Dystrophin gene analysis in Hungarian Duchenne/Becker muscular dystrophy families : detection of carrier status in symptomatic and asymptomatic female relatives / Henriett Pikó, Viktor Vancsó, Bálint Nagy, Zoltán Bán, Ágnes Herczegfalvi, Veronika Karcagi
Dátum:	2009
ISSN:	0960-8966
Megjegyzések:	A comprehensive study of the Hungarian Duchenne/Becker muscular dystrophy (DMD/BMD) families is presented. Deletions in the hot spots regions were identified by multiplex PCR, whereas rare mutations were detected by Southern blot and multiplex ligation-dependent probe amplification (MLPA) techniques. DMD/BMD disease was confirmed and exact deletion borders were determined in 19 out of 135 affected males using multiplex PCR. Additional exons involved as well as rare exon deletions were identified by MLPA in 71 male patients, whereas duplications were observed in seven patients. In two DMD patients, the entire dystrophin gene and adjacent genes were deleted. Out of the 95 female relatives, 41 proved to be carriers, including three manifesting carrier females. Using MLPA method, a large portion of the Hungarian DMD/BMD patients and their female relatives were exactly genotyped. For the first time, the incidence and prevalence of asymptomatic and symptomatic female carriers in Hungary was estimated.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban dystrophin gene Duchenne Becker Muscular
Megjelenés:	Neuromuscular Disorders. - 19 : 2 (2009), p. 108-112. -
További szerzők:	Vancsó Viktor Nagy Bálint (1956-) (molekuláris genetikus) Bán Zoltán (nőgyógyász) Herczegfalvi Ágnes Karcagi Veronika (molekuláris biológus)
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001-es BibID:	BIBFORM065309
Első szerző:	Pikó Henriett (molekuláris biológus)
Cím:	Muscular dystrophies : diagnostic approaches in Hungary / Pikó H., Vancsó V., Nagy B., Balog J., Nagymihály M., Herczegfalvi A., Tímár L., Bán Z., Karcagi V.
Dátum:	2008
ISSN:	0231-424X 1588-2683
Megjegyzések:	Muscular dystrophies are a genetically heterogeneous group of degenerative muscle disorders. This article focuses on two severe forms of muscular dystrophies and provides genetic data for a large cohort of Hungarian patients diagnosed within the last few years by the authors. The Duchenne/Becker muscular dystrophy (DMD/BMD) is caused by mutations in the dystrophin gene, which is located on chromosome Xp21. The genetic analysis of dystrophin is usually performed by multiplex polymerase chain reaction (PCR), which detects approximately 95% of all deletions but does not distinguish between one and two copies of the exons investigated. The present work, therefore, concentrates on the improvement of the diagnostic panel for the analysis of DMD/BMD in Hungary. Radioactively labelled cDNA probes, encompassing the whole dystrophin gene detect all the deletions and the analysis is quantitative. In addition, the new multiple ligation-dependent probe amplification (MLPA) technique was recently introduced that enabled more reliable and faster quantitative detection of the entire dystrophin gene. The genomic basis of facioscapulohumeral muscular dystrophy (FSHD) is associated with contraction of the D4Z4 repeat region in the subtelomere of chromosome 4q. In case of FSHD, molecular genetic criteria still have to be improved because of the complexity of the disorder.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény hazai lapban muscular dystrophies diagnostic
Megjelenés:	Acta Physiologica Hungarica. - 95 : 4 (2008), p. 405-418. -
További szerzők:	Vancsó Viktor Nagy Bálint (1956-) (molekuláris genetikus) Balog Judit Nagymihály Mariann Herczegfalvi Ágnes Tímár László Bán Zoltán (nőgyógyász) Karcagi Veronika (molekuláris biológus)
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