Inherited duplication Xq27-qter at Xp22.3 in severely affected males: Molecular cytogenetic evaluation and clinical description in three unrelated families

This publication has 24 references indexed in Scilit:

• Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome
  Nature Genetics, 1997
• Cryptic terminal rearrangement of chromosome 22q13.32 detected by FISH in two unrelated patients.
  Journal of Medical Genetics, 1997
• Long-range sequence analysis in Xq28: thirteen known and six candidate genes in 219.4 kb of high GC DNA between the RCP/GCP and G6PD loci
  Human Molecular Genetics, 1996
• Detection of a subtle rearrangement of chromosome 22 using molecular techniques
  American Journal of Medical Genetics, 1995
• The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation
  Nature Genetics, 1995
• Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17
  Human Molecular Genetics, 1994
• Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A
  Nature Genetics, 1993
• Characterization of a low copy repetitive element S232 involved in the generation of frequent deletions of the distal short arm of the human X chromosome
  Nucleic Acids Research, 1992
• Two families of low-copy-number repeats are interspersed on Xp22.3: Implications for the high frequency of deletions in this region
  Genomics, 1990
• Cytogenetic and molecular studies on a recombinant human X chromosome: implications for the spreading of X chromosome inactivation.
  Proceedings of the National Academy of Sciences, 1987