Autosomal-Dominant Microtia Linked to Five Tandem Copies of a Copy-Number-Variable Region at Chromosome 4p16
- 10 January 2008
- journal article
- research article
- Published by Elsevier in American Journal of Human Genetics
- Vol. 82 (1) , 181-187
- https://doi.org/10.1016/j.ajhg.2007.08.001
Abstract
No abstract availableKeywords
This publication has 29 references indexed in Scilit:
- Strong Association of De Novo Copy Number Mutations with AutismScience, 2007
- Global variation in copy number in the human genomeNature, 2006
- A Chromosome 8 Gene-Cluster Polymorphism with Low Human Beta-Defensin 2 Gene Copy Number Predisposes to Crohn Disease of the ColonAmerican Journal of Human Genetics, 2006
- Long-range downstream enhancers are essential for Pax6 expressionDevelopmental Biology, 2006
- Structural variation in the human genomeNature Reviews Genetics, 2006
- A high-resolution survey of deletion polymorphism in the human genomeNature Genetics, 2005
- Adaptive Amplification and Point Mutation Are Independent Mechanisms: Evidence for Various Stress-Inducible Mutation MechanismsPLoS Biology, 2004
- Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutationsNature Genetics, 2004
- Monosomy 1p36 breakpoint junctions suggest pre-meiotic breakage-fusion-bridge cycles are involved in generating terminal deletionsHuman Molecular Genetics, 2003
- Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT MethodMethods, 2001