High Frequency of Mosaicism among Patients with Neurofibromatosis Type 1 (NF1) with Microdeletions Caused by Somatic Recombination of the JJAZ1 Gene

This publication has 44 references indexed in Scilit:

• Screening 500 unselected neurofibromatosis 1 patients for deletions of the NF1 gene
  Human Mutation, 2004
• Elevated Risk for MPNST in NF1 Microdeletion Patients
  American Journal of Human Genetics, 2003
• Molecular Characterization and Gene Content of Breakpoint Boundaries in Patients with Neurofibromatosis Type 1 with 17q11.2 Microdeletions
  American Journal of Human Genetics, 2001
• Fine-Scale Comparative Mapping of the Human 7q11.23 Region and the Orthologous Region on Mouse Chromosome 5G: The Low-Copy Repeats That Flank the Williams–Beuren Syndrome Deletion Arose at Breakpoint Sites of an Evolutionary Inversion(s)
  Genomics, 2000
• A Common Set of at Least 11 Functional Genes Is Lost in the Majority of NF1 Patients with Gross Deletions
  Genomics, 2000
• Yeast ARMs (DNA at-risk motifs) can reveal sources of genome instability
  Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis, 1998
• Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome
  Nature Genetics, 1997
• Deletions spanning the neurofibromatosis type 1 gene: Implications for genotype-phenotype correlations in neurofibromatosis type 1?
  Human Mutation, 1997
• Deletion of the entire NF1 gene detected by FISH: Four deletion patients associated with severe manifestations
  American Journal of Medical Genetics, 1995
• Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17
  Human Molecular Genetics, 1994