D Doheny

Summary

Affiliation: Mount Sinai School of Medicine
Country: USA

Publications

  1. pmc Evaluation of 22 genetic variants with Crohn's disease risk in the Ashkenazi Jewish population: a case-control study
    Inga Peter
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY 10029 USA
    BMC Med Genet 12:63. 2011
  2. ncbi Phenotypic features of myoclonus-dystonia in three kindreds
    D O Doheny
    Department of Neurology, Mount Sinai School of Medicine, Annenberg 14 51A, Box 1052, New York, NY 10029, USA
    Neurology 59:1187-96. 2002
  3. ncbi Clinical findings of a myoclonus-dystonia family with two distinct mutations
    D Doheny
    Department of Neurology, Mount Sinai School of Medicine, New York, NY, USA
    Neurology 59:1244-6. 2002
  4. ncbi Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism
    J C Leung
    Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston 02114, USA
    Neurogenetics 3:133-43. 2001

Collaborators

Detail Information

Publications4

  1. pmc Evaluation of 22 genetic variants with Crohn's disease risk in the Ashkenazi Jewish population: a case-control study
    Inga Peter
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY 10029 USA
    BMC Med Genet 12:63. 2011
    ..We evaluated a set of well-established CD-susceptibility variants to determine if they can explain the increased CD risk in the AJ population...
  2. ncbi Phenotypic features of myoclonus-dystonia in three kindreds
    D O Doheny
    Department of Neurology, Mount Sinai School of Medicine, Annenberg 14 51A, Box 1052, New York, NY 10029, USA
    Neurology 59:1187-96. 2002
    ..Autosomal dominant alcohol-responsive M-D is associated with mutations in the epsilon-sarcoglycan gene (SGCE) (six families) and with a missense change in the D2 dopamine receptor (DRD2)gene (one family)...
  3. ncbi Clinical findings of a myoclonus-dystonia family with two distinct mutations
    D Doheny
    Department of Neurology, Mount Sinai School of Medicine, New York, NY, USA
    Neurology 59:1244-6. 2002
    ..Further analysis of these mutations separately and together in cell culture and in animal models should clarify their functional consequences...
  4. ncbi Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism
    J C Leung
    Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston 02114, USA
    Neurogenetics 3:133-43. 2001
    ..This 18-bp deletion is the first additional mutation, beyond the GAG-deletion (Glu302/303del), to be found in the TOR1A gene, and is associated with a distinct type of early onset dystonia...