About: TSC2/PKD1 contiguous gene syndrome: A report of 2 cases with emphasis on dermatopathologic findings

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	We report 2 sporadic cases form of TSC2/PKD1 contiguous gene syndrome, with emphasis on dermatopathologic findings. Of total of 13 cutaneous lesions studied. In both patients, deletions in the region of TSC2 and PKD1 were revealed performing by multiplex ligation probe amplification test. We report 2 sporadic cases form of TSC2/PKD1 contiguous gene syndrome, with emphasis on dermatopathologic findings. Of total of 13 cutaneous lesions studied. In both patients, deletions in the region of TSC2 and PKD1 were revealed performing by multiplex ligation probe amplification test. (en)
Title	TSC2/PKD1 contiguous gene syndrome: A report of 2 cases with emphasis on dermatopathologic findings TSC2/PKD1 contiguous gene syndrome: A report of 2 cases with emphasis on dermatopathologic findings (en)
skos:prefLabel	TSC2/PKD1 contiguous gene syndrome: A report of 2 cases with emphasis on dermatopathologic findings TSC2/PKD1 contiguous gene syndrome: A report of 2 cases with emphasis on dermatopathologic findings (en)
skos:notation	RIV/00669806:_____/09:00202572!RIV10-MZ0-00669806
http://linked.open...avai/riv/aktivita	V
http://linked.open...avai/riv/aktivity	V
http://linked.open...iv/cisloPeriodika	6
http://linked.open...vai/riv/dodaniDat	2010
http://linked.open...aciTvurceVysledku	Vaněček, Tomáš Pizinger, Karel Říčařová, Renata Kreuzberg, Boris Kazakov, Dmitry Kacerovská, Denisa Michal, Michal Reischig, Tomáš
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Fakultní nemocnice Plzeň
http://linked.open...dnocenehoVysledku	347048
http://linked.open...ai/riv/idVysledku	RIV/00669806:_____/09:00202572
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	tuberous sclerosis complex; autosomal dominant polycystic kidney disease (en)
http://linked.open.../riv/klicoveSlovo	tuberous sclerosis complex autosomal dominant polycystic kidney disease
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[0BB853A141DA]
http://linked.open...i/riv/nazevZdroje	American Journal of Dermatopathology
http://linked.open...in/vavai/riv/obor	FO
http://linked.open...ichTvurcuVysledku	8 (xsd:int)
http://linked.open...cetTvurcuVysledku	11 (xsd:int)
http://linked.open...UplatneniVysledku	2009
http://linked.open...v/svazekPeriodika	31
http://linked.open...iv/tvurceVysledku	Kacerovská, Denisa Kazakov, Dmitry Kreuzberg, Boris Michal, Michal Pizinger, Karel Vaněček, Tomáš Říčařová, Renata Reischig, Tomáš Vodička, Radek Vrtěl, Radek Daniš, Dušan
http://linked.open...ain/vavai/riv/wos	000268341900003
issn	0193-1091
number of pages	10 (xsd:int)
is http://linked.open...avai/riv/vysledek of	TSC2/PKD1 contiguous gene syndrome: A report of 2 cases with emphasis on dermatopathologic findings TSC2/PKD1 contiguous gene syndrome: A report of 2 cases with emphasis on dermatopathologic findings TSC2/PKD1 contiguous gene syndrome: A report of 2 cases with emphasis on dermatopathologic findings TSC2/PKD1 contiguous gene syndrome: A report of 2 cases with emphasis on dermatopathologic findings

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