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Typus
Verschleierung
Bearbeiter
Graf Isolan
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Untersuchte Arbeit:
Seite: 11, Zeilen: 15-16, 20-32
Quelle: Bejjani and Shaffer 2006
Seite(n): 530, Zeilen: right col. 5-20
1.3.4 Identifying the genomic lesions in known conditions

The high resolution afforded by array CGH has been used to define candidate regions for putative genes responsible for human genetic diseases. [...] Vissers and colleagues (Vissers 2004) hybridized cell lines from two individuals with CHARGE syndrome onto a genome-wide array with a 1Mb resolution. The authors narrowed a candidate region for CHARGE syndrome on 8q12 based on data from two individuals, one with a ~5 Mb deletion and another with a more complex rearrangement comprising two deletions that overlapped that of the first deletion subject. These results allowed the authors to focus on only nine genes in the region and detect heterozygous mutations in the gene CHD7, which was eventually shown to be the gene for CHARGE syndrome. The high resolution of that array was crucial in refining the critical region for this disease and in reducing the number of candidate genes to be investigated further.


82. Vissers LE, et al. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet. 2004 Sep;36(9):955-7.

The high resolution afforded by array CGH has been used to define candidate regions for putative genes responsible for human genetic diseases. For example, Vissers

et al9 hybridized cell lines from two individuals with CHARGE syndrome onto a genome-wide array with a 1-Mb resolution. The authors used a 918-BAC tiling resolution array to narrow a candidate region for CHARGE syndrome on 8q12 based on data from two individuals, one with a ~5-Mb deletion and another with a more complex rearrangement comprising two deletions that overlapped that of the first deletion subject. These results allowed the authors to focus on only nine genes in the region and detect heterozygous mutations in the gene CHD7, which was eventually shown to be the gene for CHARGE syndrome.9 The high resolution of that array was crucial in refining the critical region for this disease and in reducing the number of candidate genes to be investigated further.


9. Vissers LE, van Ravenswaaij CM, Admiraal R, Hurst JA, de Vries BB, Janssen IM, van der Vliet WA, Huys EH, de Jong PJ, Hamel BC, Schoenmakers EF, Brunner HG, Veltman JA, van Kessel AG: Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet 2004, 36:955–957

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(Graf Isolan), SleepyHollow02

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