Affiliation: ANZAC Research Institute
- A locus for hereditary sensory neuropathy with cough and gastroesophageal reflux on chromosome 3p22-p24C Kok
Neurobiology Laboratory, ANZAC Research Institute, University of Sydney, Sydney, Australia
Am J Hum Genet 73:632-7. 2003..A second family with a similar phenotype shares a different disease haplotype but segregates at the same locus. Extended haplotype analysis has refined the region to a 3.42-cM interval, flanked by markers D3S2336 and D3S1266...
- Transcript map of the candidate region for HSNI with cough and gastroesophageal reflux on chromosome 3p and exclusion of candidate genesCindy Kok
Neurobiology Laboratory, ANZAC Research Institute, Hospital Road, Concord, New South Wales, Australia
Neurogenetics 5:197-200. 2004..We have used the resources of the Human Genome Project to report a transcript map of the region on chromosome 3p24 containing the HSNI with cough and GER locus...
- CMT with pyramidal features. Charcot-Marie-ToothS Vucic
University of Sydney, Neurobiology Laboratory, ANZAC Research Institute, Concord Hospital, NSW, Australia
Neurology 60:696-9. 2003..Linkage studies excluded CMT2A, 2B, 2D, 2E, and 2F; ALS4; and HMN2. There were no mutations in the PMP22, MPZ/Po, or EGR2 genes...
- Autosomal dominant hereditary sensory neuropathy with chronic cough and gastro-oesophageal reflux: clinical features in two families linked to chromosome 3p22-p24Penelope J Spring
Institute of Clinical Neurosciences, Royal Prince Alfred Hospital and University of Sydney, Australia
Brain 128:2797-810. 2005..These families represent a genetically novel variant of HSN I, with a distinctive cough owing to involvement of the upper aerodigestive tract...