Bryan D Hall

Summary

Affiliation: University of Louisville
Country: USA

Publications

  1. ncbi 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. ncbi 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 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. ncbi 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 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 A Festschrift in Honor of Bryan D. Hall. March 12, 2003. Lake Arrowhead, California, USA
    Bryan D Hall
    Am J Med Genet A 123:1-121. 2003
  7. ncbi 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
  8. ncbi 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 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. ncbi 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 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. ncbi 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 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 A Festschrift in Honor of Bryan D. Hall. March 12, 2003. Lake Arrowhead, California, USA
    Bryan D Hall
    Am J Med Genet A 123:1-121. 2003
  7. ncbi 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...
  8. ncbi 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...