S J Hassed

Summary

Affiliation: University of Oklahoma Health Sciences Center
Country: USA

Publications

  1. pmc RBPJ mutations identified in two families affected by Adams-Oliver syndrome
    Susan J Hassed
    Department of Pediatrics, University of Oklahoma Health Sciences Center, University of Oklahoma Children s Physicians Building, 1200 Children s Avenue, Oklahoma City, OK 73104, USA
    Am J Hum Genet 91:391-5. 2012
  2. ncbi request reprint A new genomic duplication syndrome complementary to the velocardiofacial (22q11 deletion) syndrome
    S J Hassed
    Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City 73104, USA
    Clin Genet 65:400-4. 2004
  3. ncbi request reprint Blepharophimosis: a causally heterogeneous malformation frequently associated with developmental disabilities
    C Cunniff
    Department of Pediatrics, The University of Arizona College of Medicine, Steele Memorial Children s Research Center, Tucson 85724, USA
    Am J Med Genet 75:52-4. 1998

Detail Information

Publications3

  1. pmc RBPJ mutations identified in two families affected by Adams-Oliver syndrome
    Susan J Hassed
    Department of Pediatrics, University of Oklahoma Health Sciences Center, University of Oklahoma Children s Physicians Building, 1200 Children s Avenue, Oklahoma City, OK 73104, USA
    Am J Hum Genet 91:391-5. 2012
    ..Functional assays confirmed impaired DNA binding of mutated RBPJ, placing it among other notch-pathway proteins altered in human genetic syndromes...
  2. ncbi request reprint A new genomic duplication syndrome complementary to the velocardiofacial (22q11 deletion) syndrome
    S J Hassed
    Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City 73104, USA
    Clin Genet 65:400-4. 2004
    ..The laboratory results further show the utility and need for careful analysis of interphase cells even in samples where good quality metaphases are available...
  3. ncbi request reprint Blepharophimosis: a causally heterogeneous malformation frequently associated with developmental disabilities
    C Cunniff
    Department of Pediatrics, The University of Arizona College of Medicine, Steele Memorial Children s Research Center, Tucson 85724, USA
    Am J Med Genet 75:52-4. 1998
    ..Based on this information, it is suggested that children with blepharophimosis be evaluated carefully for underlying conditions and that they be observed for developmental disabilities because of the frequent association...