Bryan D Hall

Summary

Affiliation: University of Louisville
Country: USA

Publications

  1. ncbi request reprint Phakomatosis pigmentovascularis: Implications for severity with special reference to Mongolian spots associated with Sturge-Weber and Klippel-Trenaunay syndromes
    Bryan D Hall
    Division of Clinical Biochemical Genetics and Dysmorphology, Department of Pediatrics, University of Kentucky, Lexington, Kentucky, USA
    Am J Med Genet A 143:3047-53. 2007
  2. doi request reprint Elements of morphology: standard terminology for the periorbital region
    Bryan D Hall
    Department of Pediatrics, University of Kentucky, Lexington, Kentucky 40536 0284, USA
    Am J Med Genet A 149:29-39. 2009
  3. ncbi request reprint X-linked cubitus valgus with mental retardation and typical face
    Kenneth Lyons Jones
    Department of Pediatrics, University of California, San Diego, School of Medicine, La Jolla, California, USA
    Am J Med Genet A 123:33-6. 2003
  4. doi request reprint Petty syndrome and Fontaine-Farriaux syndrome: Delineation of a single syndrome
    Stephen R Braddock
    Department of Pediatrics, University of Virginia Health System, Charlottesville, Virginia 22908 0386, USA
    Am J Med Genet A 152:1718-23. 2010
  5. ncbi request reprint A new X-linked syndrome with agenesis of the corpus callosum, mental retardation, coloboma, micrognathia, and a mutation in the Alpha 4 gene at Xq13
    John M Graham
    Medical Genetics Birth Defects Center, Ahmanson Department of Pediatrics, Cedars Sinai Medical Center, UCLA School of Medicine, Los Angeles, California 90048, USA
    Am J Med Genet A 123:37-44. 2003
  6. ncbi request reprint Further delineation of Kabuki syndrome in 48 well-defined new individuals
    Linlea Armstrong
    Department of Genetics, Children s Hospital of Eastern Ontario, Ottawa, Ontario, Canada
    Am J Med Genet A 132:265-72. 2005
  7. ncbi request reprint DOOR syndrome: clinical report, literature review and discussion of natural history
    Aaron W James
    School of Medicine, University of California, San Francisco, California
    Am J Med Genet A 143:2821-31. 2007

Detail Information

Publications8

  1. ncbi request reprint Phakomatosis pigmentovascularis: Implications for severity with special reference to Mongolian spots associated with Sturge-Weber and Klippel-Trenaunay syndromes
    Bryan D Hall
    Division of Clinical Biochemical Genetics and Dysmorphology, Department of Pediatrics, University of Kentucky, Lexington, Kentucky, USA
    Am J Med Genet A 143:3047-53. 2007
    ..This may be particularly true either of children of Asian, Hispanic or African heritage or any individuals from darker pigmented skin groups...
  2. doi request reprint Elements of morphology: standard terminology for the periorbital region
    Bryan D Hall
    Department of Pediatrics, University of Kentucky, Lexington, Kentucky 40536 0284, USA
    Am J Med Genet A 149:29-39. 2009
    ..Here we introduce the anatomy of the periorbital area and define and illustrate the terms that describe the major characteristics of the periorbital area...
  3. ncbi request reprint X-linked cubitus valgus with mental retardation and typical face
    Kenneth Lyons Jones
    Department of Pediatrics, University of California, San Diego, School of Medicine, La Jolla, California, USA
    Am J Med Genet A 123:33-6. 2003
    ..Documentation of this disorder in two maternal male first cousins as well as in a male and his maternal uncle support an X-linked recessive mode of inheritance for this condition...
  4. doi request reprint Petty syndrome and Fontaine-Farriaux syndrome: Delineation of a single syndrome
    Stephen R Braddock
    Department of Pediatrics, University of Virginia Health System, Charlottesville, Virginia 22908 0386, USA
    Am J Med Genet A 152:1718-23. 2010
    ..In addition, evidence suggesting that the Petty syndrome and Fontaine-Farriaux syndromes are variable expressions of the same condition is discussed...
  5. ncbi request reprint A new X-linked syndrome with agenesis of the corpus callosum, mental retardation, coloboma, micrognathia, and a mutation in the Alpha 4 gene at Xq13
    John M Graham
    Medical Genetics Birth Defects Center, Ahmanson Department of Pediatrics, Cedars Sinai Medical Center, UCLA School of Medicine, Los Angeles, California 90048, USA
    Am J Med Genet A 123:37-44. 2003
    ..Altered expression of Alpha 4, through either a change in translational efficiency, mRNA stability or splicing, could explain the clinical phenotype in these boys and the phenotypic overlap with Opitz GBBB syndrome...
  6. ncbi request reprint Further delineation of Kabuki syndrome in 48 well-defined new individuals
    Linlea Armstrong
    Department of Genetics, Children s Hospital of Eastern Ontario, Ottawa, Ontario, Canada
    Am J Med Genet A 132:265-72. 2005
    ..Very recently, a microduplication of 8p has been described in multiple affected individuals, the proportion of individuals with the duplication is yet to be determined...
  7. ncbi request reprint DOOR syndrome: clinical report, literature review and discussion of natural history
    Aaron W James
    School of Medicine, University of California, San Francisco, California
    Am J Med Genet A 143:2821-31. 2007
    ..A comprehensive literature review reveals 32 patients with DOOR syndrome. In conclusion, DOOR syndrome is a neurometabolic disorder with recognizable facial features and a progressive natural history...