About: Interstitial deletion 9q22.32-q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin-Goltz syndrome and features of Nail-Patella syndrome

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About: Interstitial deletion 9q22.32-q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin-Goltz syndrome and features of Nail-Patella syndrome Goto Sponge NotDistinct Permalink

An Entity of Type : http://linked.opendata.cz/ontology/domain/vavai/Vysledek, within Data Space : linked.opendata.cz associated with source document(s)

Attributes	Values
rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	BCNS, chromosome translocation t(9;17)(q34.1;p11.2), FISH, Gorlin-Goltz syndrome, interstitial deletion 9q, nail-patella syndrome BCNS, chromosome translocation t(9;17)(q34.1;p11.2), FISH, Gorlin-Goltz syndrome, interstitial deletion 9q, nail-patella syndrome (en) BCNS, translokace t(9;17)(q34.1;p11.2), FISH, Gorlin-Goltz syndrom, intersticiální delece 9q, nail-patella syndrom (cs)
Title	Intersticiální delece 9q22.32-q33.2 spojená s familiární translokací t(9;17)(q34.11;p11.2) u pacienta s Gorlin-Goltz syndromem a s rysy Nail-Patella syndromu (cs) Interstitial deletion 9q22.32-q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin-Goltz syndrome and features of Nail-Patella syndrome Interstitial deletion 9q22.32-q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin-Goltz syndrome and features of Nail-Patella syndrome (en)
skos:prefLabel	Intersticiální delece 9q22.32-q33.2 spojená s familiární translokací t(9;17)(q34.11;p11.2) u pacienta s Gorlin-Goltz syndromem a s rysy Nail-Patella syndromu (cs) Interstitial deletion 9q22.32-q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin-Goltz syndrome and features of Nail-Patella syndrome Interstitial deletion 9q22.32-q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin-Goltz syndrome and features of Nail-Patella syndrome (en)
skos:notation	RIV/00064165:_____/04:00000391!RIV/2005/GA0/L38005/N
http://linked.open.../vavai/riv/strany	179;191
http://linked.open...avai/riv/aktivita	P
http://linked.open...avai/riv/aktivity	P(GA301/01/0200)
http://linked.open...iv/cisloPeriodika	124
http://linked.open...vai/riv/dodaniDat	2005
http://linked.open...aciTvurceVysledku	Zemanová, Zuzana
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	Všeobecná fakultní nemocnice v Praze / (nerozlišená součást)
http://linked.open...dnocenehoVysledku	568760
http://linked.open...ai/riv/idVysledku	RIV/00064165:_____/04:00000391
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	Interstitial;deletion;32-q33;associated;additional;familial;translocation;11;p11;patient;Gorlin-Goltz;syndrome;features;Nail-Patella;syndrome (en)
http://linked.open.../riv/klicoveSlovo	features deletion associated additional 32-q33 Gorlin-Goltz Nail-Patella p11 patient familial Interstitial syndrome translocation 11
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[F2509984FB11]
http://linked.open...i/riv/nazevZdroje	American Journal of Medical Genetics
http://linked.open...in/vavai/riv/obor	EB
http://linked.open...ichTvurcuVysledku	1 (xsd:int)
http://linked.open...cetTvurcuVysledku	11 (xsd:int)
http://linked.open...vavai/riv/projekt	Anylysis of inborn and acquired chromosomal changes in human somatic and malignant cells by multicolor fluorescence in situ hybridization (mFSH)
http://linked.open...UplatneniVysledku	2004
http://linked.open...v/svazekPeriodika	A
http://linked.open...iv/tvurceVysledku	Zemanová, Zuzana
issn	0148-7299
number of pages	13 (xsd:int)

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