Robert A Saul

Summary

Affiliation: Greenwood Genetic Center
Country: USA

Publications

  1. ncbi request reprint Prenatal mucolipidosis type II (I-cell disease) can present as Pacman dysplasia
    Robert A Saul
    Greenwood Genetic Center, Greenwood, South Carolina 29646, USA
    Am J Med Genet A 135:328-32. 2005
  2. doi request reprint Fragile X syndrome detection in newborns-pilot study
    Robert A Saul
    Greenwood Genetic Center, Greenwood, South Carolina 29646, USA
    Genet Med 10:714-9. 2008
  3. ncbi request reprint POMGnT1 gene alterations in a family with neurological abnormalities
    Virginie S Vervoort
    J C Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC 29646, USA
    Ann Neurol 56:143-8. 2004
  4. pmc Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities
    Bradley L Griggs
    J C Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC 29646, USA Department of Genetics and Biochemistry, Clemson University, Clemson, SC 29634, USA
    Genomics 91:195-202. 2008
  5. ncbi request reprint Is Jaffe-Campanacci syndrome just a manifestation of neurofibromatosis type 1?
    Randall S Colby
    Greenwood Genetic Center, Columbia Office, Columbia, South Carolina 29646, USA
    Am J Med Genet A 123:60-3. 2003

Collaborators

Detail Information

Publications5

  1. ncbi request reprint Prenatal mucolipidosis type II (I-cell disease) can present as Pacman dysplasia
    Robert A Saul
    Greenwood Genetic Center, Greenwood, South Carolina 29646, USA
    Am J Med Genet A 135:328-32. 2005
    ..Having redefined the diagnosis in one of the original cases of Pacman dysplasia, we suggest that what is called Pacman dysplasia could very well be Mucolipidosis type II (ML-II) in other published reports...
  2. doi request reprint Fragile X syndrome detection in newborns-pilot study
    Robert A Saul
    Greenwood Genetic Center, Greenwood, South Carolina 29646, USA
    Genet Med 10:714-9. 2008
    ..A pilot study was conducted to establish the feasibility of newborn screening for fragile X syndrome...
  3. ncbi request reprint POMGnT1 gene alterations in a family with neurological abnormalities
    Virginie S Vervoort
    J C Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC 29646, USA
    Ann Neurol 56:143-8. 2004
    ..R442C) inherited from their father. Our findings further define the phenotypic spectrum of MEB and its occurrence in the US population...
  4. pmc Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities
    Bradley L Griggs
    J C Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC 29646, USA Department of Genetics and Biochemistry, Clemson University, Clemson, SC 29634, USA
    Genomics 91:195-202. 2008
    ....
  5. ncbi request reprint Is Jaffe-Campanacci syndrome just a manifestation of neurofibromatosis type 1?
    Randall S Colby
    Greenwood Genetic Center, Columbia Office, Columbia, South Carolina 29646, USA
    Am J Med Genet A 123:60-3. 2003
    ..Appropriate intervention (exercise restriction, bracing, and/or surgery) might decrease the long-term disability associated with Jaffe-Campanacci syndrome...