Mapping genomic deletions down to the base: a quantitative copy number scanning approach used to characterise and clone the breakpoints of a recurrent 7p14.2p15.3 deletion-Reference-Cited by-同舟云学术

Mapping genomic deletions down to the base: a quantitative copy number scanning approach used to characterise and clone the breakpoints of a recurrent 7p14.2p15.3 deletion

Published:2004-09-18 Issue:6 Volume:115 Page:459-467
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Dun� Morten,Hove Hanne,Kirchhoff Maria,Devriendt Koenraad,Schwartz Marianne

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-004-1174-y.pdf

Reference39 articles.

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2. Armour JA, Barton DE, Cockburn DJ, Taylor GR (2002) The detection of large deletions or duplications in genomic DNA. Hum Mutat 20:325?337

3. Bischoff AM, Luijendijk MW, Huygen PL, van Duijnhoven G, De Leenheer EM, Oudesluijs GG, Van Laer L, Cremers FP, Cremers CW, Kremer H (2004) A novel mutation identified in the DFNA5 gene in a Dutch family: a clinical and genetic evaluation. Audiol Neurootol 9:34?46

4. Cai T, Yu P, Tagle DA, Xia J (1999) Duplication of 7p21.2?pter due to maternal 7p;21q translocation: implications for critical segment assignment in the 7p duplication syndrome. Am J Med Genet 86:305?311

5. Chotai KA, Brueton LA, van Herwerden L, Garrett C, Hinkel GK, Schinzel A, Mueller RF, Speleman F, Winter RM (1994) Six cases of 7p deletion: clinical, cytogenetic, and molecular studies. Am J Med Genet 51:270?276

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