About: Fusion of the additional sex combs like 1 and teashirt zinc finger homeobox 2 genes resulting from ider(20q) aberration in a patient with myelodysplastic syndrome

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About: Fusion of the additional sex combs like 1 and teashirt zinc finger homeobox 2 genes resulting from ider(20q) aberration in a patient with myelodysplastic 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
rdfs:seeAlso	http://dx.doi.org/10.1111/bjh.12586
Description	A variant of del(20q), an isochromosome of the long arm with the loss of an interstitial part of 20q, ider(20q), has been reported in patients with myeloid diseases. About 40 cases with this rearrangement have been reported up to 2012. Molecular cytogenetic and array techniques have been used for mapping of the deleted region on 20q. The proximal breakpoints are consistently located in the 20q11.21 band, and the distal breakpoints span from band 20q13.13 to band 20q13.33. A variant of del(20q), an isochromosome of the long arm with the loss of an interstitial part of 20q, ider(20q), has been reported in patients with myeloid diseases. About 40 cases with this rearrangement have been reported up to 2012. Molecular cytogenetic and array techniques have been used for mapping of the deleted region on 20q. The proximal breakpoints are consistently located in the 20q11.21 band, and the distal breakpoints span from band 20q13.13 to band 20q13.33. (en)
Title	Fusion of the additional sex combs like 1 and teashirt zinc finger homeobox 2 genes resulting from ider(20q) aberration in a patient with myelodysplastic syndrome Fusion of the additional sex combs like 1 and teashirt zinc finger homeobox 2 genes resulting from ider(20q) aberration in a patient with myelodysplastic syndrome (en)
skos:prefLabel	Fusion of the additional sex combs like 1 and teashirt zinc finger homeobox 2 genes resulting from ider(20q) aberration in a patient with myelodysplastic syndrome Fusion of the additional sex combs like 1 and teashirt zinc finger homeobox 2 genes resulting from ider(20q) aberration in a patient with myelodysplastic syndrome (en)
skos:notation	RIV/00216208:11110/14:10284176!RIV15-MSM-11110___
http://linked.open...avai/riv/aktivita	I P
http://linked.open...avai/riv/aktivity	I, P(GBP302/12/G157)
http://linked.open...iv/cisloPeriodika	1
http://linked.open...vai/riv/dodaniDat	2015
http://linked.open...aciTvurceVysledku	Kostýlková, Karla Zemanová, Zuzana Buryová, Halka Izáková, Silvia
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	Univerzita Karlova v Praze / 1. lékařská fakulta
http://linked.open...dnocenehoVysledku	17791
http://linked.open...ai/riv/idVysledku	RIV/00216208:11110/14:10284176
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	TSHZ2; ASXL1; myelodysplastic syndrome; del(20q); ider(20q) (en)
http://linked.open.../riv/klicoveSlovo	ASXL1 TSHZ2 del(20q) ider(20q) myelodysplastic syndrome
http://linked.open...odStatuVydavatele	GB - Spojené království Velké Británie a Severního Irska
http://linked.open...ontrolniKodProRIV	[263A6B529909]
http://linked.open...i/riv/nazevZdroje	British Journal of Haematology
http://linked.open...in/vavai/riv/obor	FD
http://linked.open...ichTvurcuVysledku	4 (xsd:int)
http://linked.open...cetTvurcuVysledku	10 (xsd:int)
http://linked.open...vavai/riv/projekt	Dynamics and Organization of Chromosomes in the Cell Cycle and during Differentiation under Normal and Pathological Conditions
http://linked.open...UplatneniVysledku	2014
http://linked.open...v/svazekPeriodika	164
http://linked.open...iv/tvurceVysledku	Brezinova, Jana Marková, Jana Michalová, Kyra Zemanová, Zuzana Buryová, Halka Izáková, Silvia Šárová, Iveta Kostýlková, Karla Ransdorfova, Sarka Soukupová, Jacqueline
http://linked.open...ain/vavai/riv/wos	000327783300019
issn	0007-1048
number of pages	3 (xsd:int)
http://bibframe.org/vocab/doi	10.1111/bjh.12586
http://localhost/t...ganizacniJednotka	11110

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