Detection of genomic rearrangements by DHPLC: A prospective study of 90 patients with inherited peripheral neuropathies associated with17p11.2 rearrangements
- 6 June 2005
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics Part A
- Vol. 136A (2) , 136-139
- https://doi.org/10.1002/ajmg.a.30790
Abstract
No abstract availableKeywords
This publication has 19 references indexed in Scilit:
- Multiplex PCR/liquid chromatography assay for detection of gene rearrangements: application to RB1 geneNucleic Acids Research, 2004
- Diagnosis of gene dosage alterations at the PMP22 gene using MAPHJournal of Medical Genetics, 2003
- Rapid detection of 17p11.2 rearrangements by FISH without cell culture (direct FISH, DFISH): A prospective study of 130 patients with inherited peripheral neuropathiesAmerican Journal of Medical Genetics Part A, 2003
- Testing for BRCA1 mutations: a cost-effectiveness analysisEuropean Journal of Human Genetics, 2002
- A comparison of methods for gene dosage analysis in HMSN type 1Journal of Medical Genetics, 2001
- Real-time quantitative polymerase chain reactionHuman Genetics, 2000
- Diagnosis of the CMT1A duplication by PCR based detection of a novel junction fragment.Journal of Medical Genetics, 1998
- Human Meiotic Recombination Products Revealed by Sequencing a Hotspot for Homologous Strand Exchange in Multiple HNPP Deletion PatientsAmerican Journal of Human Genetics, 1998
- Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: Implications for testing in the cytogenetics laboratoryAmerican Journal of Medical Genetics, 1997
- Estimation of the Mutation Frequencies in Charcot-Marie-Tooth Disease Type 1 and Hereditary Neuropathy with Liability to Pressure Palsies: A European Collaborative StudyEuropean Journal of Human Genetics, 1996