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rdf:type
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Description
| - Vyšetřili jsme 21 osob s vzácnými CNV spojenými s CMT1A nebo HNPP pomicí oligoCGH microarrays a prokázali jsme 17 unikátních CNV zahrnující delece duplikace, komplexní přestavby a malé delexe exonů.
- Vyšetřili jsme 21 osob s vzácnými CNV spojenými s CMT1A nebo HNPP pomicí oligoCGH microarrays a prokázali jsme 17 unikátních CNV zahrnující delece duplikace, komplexní přestavby a malé delexe exonů. (cs)
- We investigated 21 subjects with rare CNVs associated with CMT1A or HNPP by oligonucleotide-based comparative genomic hybridization microarrays and breakpoint sequence analyses, and we identified 17 unique CNVs, including two genomic deletions, ten genomic duplications, two complex rearrangements, and three small exonic deletions. Each of these CNVs includes either the entire PMP22 gene, or exon(s) only, or ultraconserved potential regulatory sequences upstream of PMP22, further supporting the contention that PMP22 is the critical gene mediating the neuropathy phenotypes associated with 17p12 rearrangements. Breakpoint sequence analysis reveals that, different from the predominant NAHR mechanism in recurrent rearrangement, various molecular mechanisms, including nonhomologous end joining, Alu-Alu-mediated recombination, and replication-based mechanisms (e.g., FoSTeS and/or MMBIR), can generate nonrecurrent 17p12 rearrangements associated with neuropathy. (en)
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Title
| - Mechanisms for Nonrecurrent Genomic Rearrangements Associated with CMT1A or HNPP: Rare CNVs as a Cause for Missing Heritability
- Mechanisms for Nonrecurrent Genomic Rearrangements Associated with CMT1A or HNPP: Rare CNVs as a Cause for Missing Heritability (cs)
- Mechanismy nerekurentních genomických přestaveb spojených s CMT1A nebo HNPP. Vzácné CNV způsobují chybějící heritabilitu. (en)
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skos:prefLabel
| - Mechanisms for Nonrecurrent Genomic Rearrangements Associated with CMT1A or HNPP: Rare CNVs as a Cause for Missing Heritability
- Mechanisms for Nonrecurrent Genomic Rearrangements Associated with CMT1A or HNPP: Rare CNVs as a Cause for Missing Heritability (cs)
- Mechanismy nerekurentních genomických přestaveb spojených s CMT1A nebo HNPP. Vzácné CNV způsobují chybějící heritabilitu. (en)
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skos:notation
| - RIV/00064203:_____/10:6252!RIV11-MZ0-00064203
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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/00064203:_____/10:6252
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http://linked.open...riv/jazykVysledku
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http://linked.open.../riv/klicovaSlova
| - tooth disease type-1a; segmental duplications; complex rearrangements; hereditary neuropathy; replication slippage; pressure palsies; alu elements; gene; dna; recombination (en)
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http://linked.open.../riv/klicoveSlovo
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http://linked.open...odStatuVydavatele
| - US - Spojené státy americké
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http://linked.open...ontrolniKodProRIV
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http://linked.open...i/riv/nazevZdroje
| - American 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...vavai/riv/projekt
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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
| - Seeman, Pavel
- Rautenstrauss, B.
- Posádka, Jan
- Zhang, F.
- Lupski, JR
- Timmerman, V.
- De Jonghe, P.
- Baas, F.
- Batish, S. D.
- De Vriendt, E.
- Gonzaga-Jauregui, C.
- Khajavi, M.
- Krause, KH
- Liu, PF
- Palau, F.
- Towne, CF
- Van Maldergem, L.
- Vandenberghe, A.
- Weterman, MAJ
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http://linked.open...ain/vavai/riv/wos
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issn
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number of pages
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is http://linked.open...avai/riv/vysledek
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