Molecular Characterization and Gene Content of Breakpoint Boundaries in Patients with Neurofibromatosis Type 1 with 17q11.2 Microdeletions
- 1 September 2001
- journal article
- Published by Elsevier BV in American Journal of Human Genetics
- Vol. 69 (3), 516-527
- https://doi.org/10.1086/323043
Abstract
No abstract availableThis publication has 35 references indexed in Scilit:
- The Sequence of the Human GenomeScience, 2001
- Initial sequencing and analysis of the human genomeNature, 2001
- Characterization of a cytogenetic 17q11.2 deletion in an NF1 patient with a contiguous gene syndromeHuman Genetics, 1996
- The detection of contiguous gene deletions at the neurofibromatosis 1 locus with fluorescence in situ hybridizationCytogenetic and Genome Research, 1996
- Deletion of the entire NF1 gene detected by FISH: Four deletion patients associated with severe manifestationsAmerican Journal of Medical Genetics, 1995
- Analysis of the CMT1A-REP repeat: mapping crossover breakpoints in CMT1A and HNPPHuman Molecular Genetics, 1995
- Benign neurofibromas in type 1 neurofibromatosis (NF1) show somatic deletions of the NF1 geneNature Genetics, 1995
- Deletions spanning the neurofibromatosis 1 gene: identification and phenotype of five patients.1994
- Charcot–Marie–Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unitNature Genetics, 1992
- Large de novo DNA deletion in a patient with sporadic neurofibromatosis 1, mental retardation, and dysmorphism.Journal of Medical Genetics, 1992