Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits
- 1 October 1998
- journal article
- review article
- Published by Elsevier in Trends in Genetics
- Vol. 14 (10) , 417-422
- https://doi.org/10.1016/s0168-9525(98)01555-8
Abstract
No abstract availableKeywords
This publication has 61 references indexed in Scilit:
- PMS2-Related Genes Flank the Rearrangement Breakpoints Associated with Williams Syndrome and Other Diseases on Human Chromosome 7Genomics, 1997
- Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndromeNature Genetics, 1997
- The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPsHuman Molecular Genetics, 1997
- Primate origin of the CMT1A-REP repeat and analysis of a putative transposon-associated recombinational hotspotHuman Molecular Genetics, 1996
- Analysis of the CMT1A-REP repeat: mapping crossover breakpoints in CMT1A and HNPPHuman Molecular Genetics, 1995
- Homologous unequal cross-over involving a 2.8 kb direct repeat as a mechanism for the generation of allelic variants of the human cytochrome P450 CYP2D6 geneHuman Molecular Genetics, 1995
- Investigation of the factor VIII intron 22 repeated region (int22h) and the associated inversion junctionsHuman Molecular Genetics, 1995
- Submicroscopic deletions at 22q11.2: Variability of the clinical picture and delineation of a commonly deleted regionAmerican Journal of Medical Genetics, 1995
- Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cellsHuman Molecular Genetics, 1994
- Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17Human Molecular Genetics, 1994