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| Description
| - Úvod - Genetické faktory mozkových arteriovenózních malformací nejsou prozkoumány vzhledem k nízké incidenci familiárních případů, a to navzdory místnímu a familiárnímu nakupení. K vyšetření genetického podkladu jsme použili kombinaci vazbové a asociační studie. Metodika ? U 12 pacientů z 6 nepříbuzenských rodin byla provedena pomocí programu GENEHUNTER vazbová analýza přes celou šíři geonomu. U 26 pacientů a 30 kontrol byla provedena asociační analýza přes celou šíři genomu pomocí mapovací sady GeneChip 10K. Úrovně signifikance byly stanoveny P<0,05 pro vazbovou analýzu a P<0,0001 pro asociační analýzu jednoduchých nukleotidových polymorfizmů. Genotypizace byla také provedena s použitím 58960 jednoduchých nukleotidových polymorfizmů u 2 párů dvojvaječných dvojčat. Výsledky - Vazbová analýza odhalila 7 kandidátních oblastí, a to s nejvyšším logarithm of odds skóre 1,88 (P=0,002) na chromozómu 6q25. Byly zjištěny signifikantní asociace pro 4 jednoduché nukleotidové polymorfizmy a 2 haplotypy, ale (cs)
- Background and Purpose - Genetic factors for brain arteriovenous malformation are unexplored because of the low incidence of familial cases, albeit local and familial clustering. We used a combination of a linkage study and an association study to explore the genetic background. Methods - A genome-wide linkage analysis was performed in 12 patients from 6 unrelated families using the GENEHUNTER program. A genome-wide association analysis of 26 cases and 30 controls was performed using a GeneChip 10K mapping array. Significance levels for linkage and single single-nucleotide polymorphism association analyses were set at P<0.05 and P<0.0001, respectively. Genotyping was also performed using 58 960 single-nucleotide polymorphisms for 2 sets of discordant twins. Results - The linkage analysis revealed 7 candidate regions, with the highest logarithm of odds score of 1.88 (P=0.002) at chromosome 6q25. A significant association was observed for 4 single-nucleotide polymorphisms and 2 haplotypes, but non
- Background and Purpose - Genetic factors for brain arteriovenous malformation are unexplored because of the low incidence of familial cases, albeit local and familial clustering. We used a combination of a linkage study and an association study to explore the genetic background. Methods - A genome-wide linkage analysis was performed in 12 patients from 6 unrelated families using the GENEHUNTER program. A genome-wide association analysis of 26 cases and 30 controls was performed using a GeneChip 10K mapping array. Significance levels for linkage and single single-nucleotide polymorphism association analyses were set at P<0.05 and P<0.0001, respectively. Genotyping was also performed using 58 960 single-nucleotide polymorphisms for 2 sets of discordant twins. Results - The linkage analysis revealed 7 candidate regions, with the highest logarithm of odds score of 1.88 (P=0.002) at chromosome 6q25. A significant association was observed for 4 single-nucleotide polymorphisms and 2 haplotypes, but non (en)
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| Title
| - Combination of linkage and association studies for brain arteriovenous malformation
- Kombinace vazbové a asociační studie u mozkových arteriovenózních malformací (cs)
- Combination of linkage and association studies for brain arteriovenous malformation (en)
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| skos:prefLabel
| - Combination of linkage and association studies for brain arteriovenous malformation
- Kombinace vazbové a asociační studie u mozkových arteriovenózních malformací (cs)
- Combination of linkage and association studies for brain arteriovenous malformation (en)
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| skos:notation
| - RIV/61989592:15110/07:00004206!RIV08-MSM-15110___
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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/61989592:15110/07:00004206
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| http://linked.open...riv/jazykVysledku
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| http://linked.open.../riv/klicovaSlova
| - arteriovenous malformation; association; genome-wide; genetics; linkage; microarr (en)
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| http://linked.open.../riv/klicoveSlovo
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| http://linked.open...odStatuVydavatele
| - GB - Spojené království Velké Británie a Severního Irska
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| http://linked.open...ontrolniKodProRIV
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| http://linked.open...i/riv/nazevZdroje
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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
| - Herzig, Roman
- Abe, M.
- Inoue, S.
- Mineharu, Y.
- Jafar, J.
- Takenaka, K.
- Wanyang, L.
- Yamakawa, H.
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| issn
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| number of pages
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| http://localhost/t...ganizacniJednotka
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