S J Hassed
Affiliation: University of Oklahoma Health Sciences Center
- RBPJ mutations identified in two families affected by Adams-Oliver syndromeSusan 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...
- A new genomic duplication syndrome complementary to the velocardiofacial (22q11 deletion) syndromeS 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...
- Blepharophimosis: a causally heterogeneous malformation frequently associated with developmental disabilitiesC 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...