About: MLPA as useful approach for detection of subtelomeric abnormalities in patients with mental retardation and dysmorphic features

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About: MLPA as useful approach for detection of subtelomeric abnormalities in patients with mental retardation and dysmorphic features Goto Sponge Distinct Permalink

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	Mental retardation (MR) is a heterogeneous manifestation of central nervous system dysfunction. Chromosomal rearrangements involving subtelomeric regions are believed to be responsible for 5-10 % of all mental retardation cases. Due to relative complexity and high cost of the screening methods used, most studies tested only a selected part of mentally retarded patients. Recently, multiplex ligation dependent probe amplification (MLPA) was adapted for use in subtelomeric screening. This method detects copy number changes of up to 45 nucleic acid sequences in one simple, PCR based reaction. Briefly, by hybridization of probes to the target sequences, followed by a ligation reaction, a copy is made of each target sequence present in the sample. All probe ligation products are subsequently amplified in a multiplex PCR reaction using unique primers attached to the probes. Mental retardation (MR) is a heterogeneous manifestation of central nervous system dysfunction. Chromosomal rearrangements involving subtelomeric regions are believed to be responsible for 5-10 % of all mental retardation cases. Due to relative complexity and high cost of the screening methods used, most studies tested only a selected part of mentally retarded patients. Recently, multiplex ligation dependent probe amplification (MLPA) was adapted for use in subtelomeric screening. This method detects copy number changes of up to 45 nucleic acid sequences in one simple, PCR based reaction. Briefly, by hybridization of probes to the target sequences, followed by a ligation reaction, a copy is made of each target sequence present in the sample. All probe ligation products are subsequently amplified in a multiplex PCR reaction using unique primers attached to the probes. (en)
Title	MLPA as useful approach for detection of subtelomeric abnormalities in patients with mental retardation and dysmorphic features MLPA as useful approach for detection of subtelomeric abnormalities in patients with mental retardation and dysmorphic features (en)
skos:prefLabel	MLPA as useful approach for detection of subtelomeric abnormalities in patients with mental retardation and dysmorphic features MLPA as useful approach for detection of subtelomeric abnormalities in patients with mental retardation and dysmorphic features (en)
skos:notation	RIV/00216224:14310/07:00022308!RIV10-MSM-14310___
http://linked.open...avai/riv/aktivita	Z
http://linked.open...avai/riv/aktivity	Z(MSM0021622415)
http://linked.open...vai/riv/dodaniDat	2010
http://linked.open...aciTvurceVysledku	Vranová, Vladimíra Kuglík, Petr Mollová, Klára
http://linked.open.../riv/druhVysledku	D - Článek ve sborníku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Masarykova univerzita / Přírodovědecká fakulta
http://linked.open...dnocenehoVysledku	434107
http://linked.open...ai/riv/idVysledku	RIV/00216224:14310/07:00022308
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	Mental retardation; MLPA; subtelomeric abnormalities; chromosomal aberrations (en)
http://linked.open.../riv/klicoveSlovo	Mental retardation MLPA subtelomeric abnormalities chromosomal aberrations
http://linked.open...ontrolniKodProRIV	[0805A82C5F90]
http://linked.open...v/mistoKonaniAkce	Brno
http://linked.open...i/riv/mistoVydani	Brno
http://linked.open...i/riv/nazevZdroje	XI. setkání biochemiků a molekulárních biologů
http://linked.open...in/vavai/riv/obor	EB
http://linked.open...ichTvurcuVysledku	3 (xsd:int)
http://linked.open...cetTvurcuVysledku	3 (xsd:int)
http://linked.open...UplatneniVysledku	2007
http://linked.open...iv/tvurceVysledku	Kuglík, Petr Vranová, Vladimíra Mollová, Klára
http://linked.open...vavai/riv/typAkce	CST - Celostátní
http://linked.open.../riv/zahajeniAkce	2007-01-01 (xsd:date)
http://linked.open...n/vavai/riv/zamer	Molecular basis of cell and tissue regulations
number of pages	2 (xsd:int)
http://purl.org/ne...btex#hasPublisher	Masarykova univerzita
https://schema.org/isbn	978-80-210-4234-6
http://localhost/t...ganizacniJednotka	14310
is http://linked.open...avai/riv/vysledek of	MLPA as useful approach for detection of subtelomeric abnormalities in patients with mental retardation and dysmorphic features MLPA as useful approach for detection of subtelomeric abnormalities in patients with mental retardation and dysmorphic features MLPA as useful approach for detection of subtelomeric abnormalities in patients with mental retardation and dysmorphic features

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