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| rdf:type
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| Description
| - Práce se zabývá využitím techniky komparativní genomové hybridizace pi objasování pvod drobných vrozených chromozomových aberací u 4 pacient s dysmorfickými rysy. (cs)
- Comparative genomic hybridization (CGH) is a molecular cytogentic technique that can characterize excess and missing cytogenetic materiál often unrecognizable by G-banding. Recently, CGH has been further improved as high-resolution CGH which may detect aberrations down to 3-5 Mb and enhance the sensitivity in the detection of aberrations. Although the major application of CGH has been in the field of cancer genetics, the utilization of CGH as a tool in clinical cytogenetics is also increasing. In clinical cytogenetics CGH has been particularly useful by facilitating the identification and characterization of intrachromosomal duplication, deletions, unbalanced translocations and maker chromosomes. We here report the application of the recently developed metod of high resolution CGH (HR-CGH) for clarification of small terminal imbalances in 4 patients with abnormal karyotypes and dysmorphic features. In our work we performed the characterization of de novo alterations such as add(1p), add(4p), a
- Comparative genomic hybridization (CGH) is a molecular cytogentic technique that can characterize excess and missing cytogenetic materiál often unrecognizable by G-banding. Recently, CGH has been further improved as high-resolution CGH which may detect aberrations down to 3-5 Mb and enhance the sensitivity in the detection of aberrations. Although the major application of CGH has been in the field of cancer genetics, the utilization of CGH as a tool in clinical cytogenetics is also increasing. In clinical cytogenetics CGH has been particularly useful by facilitating the identification and characterization of intrachromosomal duplication, deletions, unbalanced translocations and maker chromosomes. We here report the application of the recently developed metod of high resolution CGH (HR-CGH) for clarification of small terminal imbalances in 4 patients with abnormal karyotypes and dysmorphic features. In our work we performed the characterization of de novo alterations such as add(1p), add(4p), a (en)
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| Title
| - High resolution comparative genomic hybridisation analysis for detecting small constitutional chromosome abnormalities
- Využití techniky komparativní genomové hybridizace s vysokým rozlišením k detekci malých vrozených chromozomových aberací (cs)
- High resolution comparative genomic hybridisation analysis for detecting small constitutional chromosome abnormalities (en)
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| skos:prefLabel
| - High resolution comparative genomic hybridisation analysis for detecting small constitutional chromosome abnormalities
- Využití techniky komparativní genomové hybridizace s vysokým rozlišením k detekci malých vrozených chromozomových aberací (cs)
- High resolution comparative genomic hybridisation analysis for detecting small constitutional chromosome abnormalities (en)
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| skos:notation
| - RIV/00216224:14310/05:00014609!RIV06-MSM-14310___
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| http://linked.open.../vavai/riv/strany
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| http://linked.open...avai/riv/aktivita
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| http://linked.open...avai/riv/aktivity
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| http://linked.open...iv/cisloPeriodika
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| http://linked.open...vai/riv/dodaniDat
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| http://linked.open...aciTvurceVysledku
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| http://linked.open.../riv/druhVysledku
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| http://linked.open...iv/duvernostUdaju
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| http://linked.open...titaPredkladatele
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| http://linked.open...dnocenehoVysledku
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| http://linked.open...ai/riv/idVysledku
| - RIV/00216224:14310/05:00014609
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| http://linked.open...riv/jazykVysledku
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| http://linked.open.../riv/klicovaSlova
| - HR-CGH; FISH; spectral karyotyping; constitutional chromosome aberrations (en)
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| http://linked.open.../riv/klicoveSlovo
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| http://linked.open...odStatuVydavatele
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| http://linked.open...ontrolniKodProRIV
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| http://linked.open...i/riv/nazevZdroje
| - European Journal of Human Genetics
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| http://linked.open...in/vavai/riv/obor
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| http://linked.open...ichTvurcuVysledku
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| http://linked.open...cetTvurcuVysledku
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| http://linked.open...UplatneniVysledku
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| http://linked.open...v/svazekPeriodika
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| http://linked.open...iv/tvurceVysledku
| - Gaillyová, Renata
- Kuglík, Petr
- Slámová, Iva
- Vranová, Vladimíra
- Oltová, Alexandra
- Vilémová, Marcela
- Pešáková, Martina
- Žežulková, Dita
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| http://linked.open...n/vavai/riv/zamer
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| issn
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| number of pages
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| http://localhost/t...ganizacniJednotka
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| is http://linked.open...avai/riv/vysledek
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