NF1 Microdeletion Syndrome: Refined FISH Characterization of Sporadic and Familial Deletions with Locus-Specific Probes
- 1 January 2000
- journal article
- Published by Elsevier in American Journal of Human Genetics
- Vol. 66 (1) , 100-109
- https://doi.org/10.1086/302709
Abstract
No abstract availableKeywords
This publication has 28 references indexed in Scilit:
- Bleomycin hydrolase is associated with risk of sporadic Alzheimer's diseaseNature Genetics, 1998
- Deletion of the entireNF1 gene causing distinct manifestations in a familyAmerican Journal of Medical Genetics, 1997
- Example of somatic mosaicism in a series of de novo neurofibromatosis type 1 cases due to a maternally derived deletionHuman Mutation, 1997
- A YAC Contig of the Human CC Chemokine Genes Clustered on Chromosome 17q11.2Genomics, 1996
- A cytogenetic deletion, del(17)(q11.22q21.1), in a patient with sporadic neurofibromatosis type 1 (NF1) associated with dysmorphism and developmental delay.Journal of Medical 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
- A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutationsPublished by Elsevier ,1990
- Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locusCell, 1990
- On the distributions of frequencies of mutation to genes determining harmful traits in manMutation Research - Fundamental and Molecular Mechanisms of Mutagenesis, 1967