About: Malignant intracranial germioma in Smith-Lemli-Opitz syndrome: cholesterol homeostasis possibly connecting morphogenesis and cancer development.

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About: Malignant intracranial germioma in Smith-Lemli-Opitz syndrome: cholesterol homeostasis possibly connecting morphogenesis and cancer development. Goto Sponge NotDistinct Permalink

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	Smith-Lemli-Opitz syndrome is a rare hereditary autosomal recessive disease characterized by deficiency of 7-dehydrocholesterol reductase. Clinical picture encompasses prenatal and postnatal growth abnormalities and multisystemic structural malformations. To date, predisposition for tumor development is not considered a feature associated with this syndrome. Here, we describe a 16-year-old boy with Smith-Lemli-Opitz syndrome who developed cerebral germinoma. To our knowledge, this is the first report of association of this syndrome with malignant intracranial germ-cell tumor. Smith-Lemli-Opitz syndrome is a rare hereditary autosomal recessive disease characterized by deficiency of 7-dehydrocholesterol reductase. Clinical picture encompasses prenatal and postnatal growth abnormalities and multisystemic structural malformations. To date, predisposition for tumor development is not considered a feature associated with this syndrome. Here, we describe a 16-year-old boy with Smith-Lemli-Opitz syndrome who developed cerebral germinoma. To our knowledge, this is the first report of association of this syndrome with malignant intracranial germ-cell tumor. (en)
Title	Malignant intracranial germioma in Smith-Lemli-Opitz syndrome: cholesterol homeostasis possibly connecting morphogenesis and cancer development. Malignant intracranial germioma in Smith-Lemli-Opitz syndrome: cholesterol homeostasis possibly connecting morphogenesis and cancer development. (en)
skos:prefLabel	Malignant intracranial germioma in Smith-Lemli-Opitz syndrome: cholesterol homeostasis possibly connecting morphogenesis and cancer development. Malignant intracranial germioma in Smith-Lemli-Opitz syndrome: cholesterol homeostasis possibly connecting morphogenesis and cancer development. (en)
skos:notation	RIV/00216224:14110/08:00040047!RIV10-MZ0-14110___
http://linked.open...avai/riv/aktivita	P
http://linked.open...avai/riv/aktivity	P(1A8709)
http://linked.open...iv/cisloPeriodika	9
http://linked.open...vai/riv/dodaniDat	2010
http://linked.open...aciTvurceVysledku	Hořínová, Věra Dubská, Lenka Štěrba, Jaroslav Valík, Dalibor Ošlejšková, H. Pavelka, Zdeněk
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	Masarykova univerzita / Lékařská fakulta
http://linked.open...dnocenehoVysledku	377531
http://linked.open...ai/riv/idVysledku	RIV/00216224:14110/08:00040047
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	Hedcehog Biosynhtesis Tumours MRI (en)
http://linked.open.../riv/klicoveSlovo	Hedcehog Biosynhtesis Tumours MRI
http://linked.open...odStatuVydavatele	GB - Spojené království Velké Británie a Severního Irska
http://linked.open...ontrolniKodProRIV	[1B835E4EA627]
http://linked.open...i/riv/nazevZdroje	Journal Pediatric Hematology Oncology
http://linked.open...in/vavai/riv/obor	FD
http://linked.open...ichTvurcuVysledku	6 (xsd:int)
http://linked.open...cetTvurcuVysledku	7 (xsd:int)
http://linked.open...vavai/riv/projekt	In vitro separation and molecular analysis of graft-versus-host-specific and graft-versus-tumor-specific T cells
http://linked.open...UplatneniVysledku	2008
http://linked.open...v/svazekPeriodika	30
http://linked.open...iv/tvurceVysledku	Dubská, Lenka Valík, Dalibor Štěrba, Jaroslav Pavelka, Zdeněk Ošlejšková, Hana Hořínová, Věra Babovic - Vuksanovic, D.
http://linked.open...ain/vavai/riv/wos	000259098300010
issn	1077-4114
number of pages	2 (xsd:int)
http://localhost/t...ganizacniJednotka	14110
is http://linked.open...avai/riv/vysledek of	Malignant intracranial germioma in Smith-Lemli-Opitz syndrome: cholesterol homeostasis possibly connecting morphogenesis and cancer development. Malignant intracranial germioma in Smith-Lemli-Opitz syndrome: cholesterol homeostasis possibly connecting morphogenesis and cancer development. Malignant intracranial germioma in Smith-Lemli-Opitz syndrome: cholesterol homeostasis possibly connecting morphogenesis and cancer development. Malignant intracranial germioma in Smith-Lemli-Opitz syndrome: cholesterol homeostasis possibly connecting morphogenesis and cancer development.

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