T L Young

Summary

Affiliation: University of Washington
Country: USA

Publications

  1. ncbi request reprint Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1
    T L Young
    Department of Genomic Sciences, University of Washington, Seattle, WA 98195 7720, USA
    Hum Mol Genet 10:2509-14. 2001
  2. ncbi request reprint Genetic heterogeneity of Bardet-Biedl syndrome in a distinct Canadian population: evidence for a fifth locus
    M O Woods
    Faculty of Medicine, Memorial University of Newfoundland, St John s, Newfoundland, A1B 3X9, Canada
    Genomics 55:2-9. 1999
  3. pmc A founder effect in the newfoundland population reduces the Bardet-Biedl syndrome I (BBS1) interval to 1 cM
    T L Young
    Faculty of Medicine, Memorial University of Newfoundland, St John s, Newfoundland A1B 3V9, Canada
    Am J Hum Genet 65:1680-7. 1999
  4. ncbi request reprint Familial variable expression of dilated cardiomyopathy in Alström syndrome: a report of four sibs
    J 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
  5. pmc A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31
    T L Young
    Am J Hum Genet 64:900-4. 1999
  6. pmc Retinal neovascular markers in retinopathy of prematurity: aetiological implications
    P E North
    Department of Pathology, University of Arkansas for Medical Sciences, Little Rock, AR, USA
    Br J Ophthalmol 87:275-8. 2003
  7. ncbi request reprint The noncoding RNA taurine upregulated gene 1 is required for differentiation of the murine retina
    T L Young
    Howard Hughes Medical Institute, Department of Genetics, Harvard Medical School, Boston, MA 02115, USA
    Curr Biol 15:501-12. 2005

Collaborators

Detail Information

Publications7

  1. ncbi request reprint Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1
    T 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...
  2. ncbi request reprint Genetic heterogeneity of Bardet-Biedl syndrome in a distinct Canadian population: evidence for a fifth locus
    M 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)...
  3. pmc A founder effect in the newfoundland population reduces the Bardet-Biedl syndrome I (BBS1) interval to 1 cM
    T 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...
  4. ncbi request reprint Familial variable expression of dilated cardiomyopathy in Alström syndrome: a report of four sibs
    J 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...
  5. pmc A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31
    T L Young
    Am J Hum Genet 64:900-4. 1999
  6. pmc Retinal neovascular markers in retinopathy of prematurity: aetiological implications
    P 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...
  7. ncbi request reprint The noncoding RNA taurine upregulated gene 1 is required for differentiation of the murine retina
    T 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...