T L Young
Affiliation: University of Washington
- Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1T L Young
Department of Genomic Sciences, University of Washington, Seattle, WA 98195 7720, USA
Hum Mol Genet 10:2509-14. 2001..The possibility that 'mild' mutations in WFS1 might be a cause of non-syndromic deafness in the general population should be explored...
- Genetic heterogeneity of Bardet-Biedl syndrome in a distinct Canadian population: evidence for a fifth locusM O Woods
Faculty of Medicine, Memorial University of Newfoundland, St John s, Newfoundland, A1B 3X9, Canada
Genomics 55:2-9. 1999..Six families remain undetermined because of poor pedigree structure or inconclusive haplotype analyses. Six families were excluded from all four known BBS loci, indicating that there is at least a fifth BBS locus (BBS5)...
- A founder effect in the newfoundland population reduces the Bardet-Biedl syndrome I (BBS1) interval to 1 cMT L Young
Faculty of Medicine, Memorial University of Newfoundland, St John s, Newfoundland A1B 3V9, Canada
Am J Hum Genet 65:1680-7. 1999..The LD data suggest that the BBS1 gene lies in a 1-Mb, sequence-ready region on chromosome 11q13, which should enable its identification...
- Familial variable expression of dilated cardiomyopathy in Alström syndrome: a report of four sibsJ D Hoffman
Section of Metabolic Diseases, The Children s Hospital of Philadelphia, 34th Street and Civic Center Boulevard, Philadelphia, PA 19104, USA
Am J Med Genet A 135:96-8. 2005..This report emphasizes the difficulty of recognizing this constellation of symptoms as Alström syndrome at an early age, the seriousness of cardiac involvement, and the intra-familial variability of phenotypic expression...
- A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31T L Young
Am J Hum Genet 64:900-4. 1999
- Retinal neovascular markers in retinopathy of prematurity: aetiological implicationsP E North
Department of Pathology, University of Arkansas for Medical Sciences, Little Rock, AR, USA
Br J Ophthalmol 87:275-8. 2003..2) To compare the vascular immunophenotype of ROP to juvenile haemangioma, another perinatal neovascular disorder that has recently been shown to express placental type vascular antigens, including GLUT1 and Lewis Y antigen...
- The noncoding RNA taurine upregulated gene 1 is required for differentiation of the murine retinaT L Young
Howard Hughes Medical Institute, Department of Genetics, Harvard Medical School, Boston, MA 02115, USA
Curr Biol 15:501-12. 2005..However, of the thousands of ncRNAs identified, the functions of relatively few have been established...