Sharon F Suchy

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. ncbi request reprint First report of prenatal biochemical diagnosis of Lowe syndrome
    S F Suchy
    Laboratory of Genetic Disease Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Prenat Diagn 18:1117-21. 1998
  2. pmc The deficiency of PIP2 5-phosphatase in Lowe syndrome affects actin polymerization
    Sharon F Suchy
    National Human Genome Research Institute, Bethesda, MD 20892, USA
    Am J Hum Genet 71:1420-7. 2002
  3. ncbi request reprint Sertoli cell vacuolization and abnormal germ cell adhesion in mice deficient in an inositol polyphosphate 5-phosphatase
    Elina Hellsten
    Genetic Diseases Research Branch, National Human Genome Research Institute, Veterinary Resources Program, Office of Director, National Institutes of Health, 49 Convent Drive, Bethesda, MD 20892, USA
    Biol Reprod 66:1522-30. 2002
  4. pmc Dent Disease with mutations in OCRL1
    Richard R Hoopes
    Department of Medicine, SUNY Upstate Medical University, Syracuse, NY, USA
    Am J Hum Genet 76:260-7. 2005

Collaborators

  • Robert L Nussbaum
  • T Lin
  • B Hoppe
  • Richard R Hoopes
  • Elina Hellsten
  • Antony E Shrimpton
  • Burkhard Toenshoff
  • Steven J Scheinman
  • Velibor Tasic
  • Janos Matyus
  • Ari Simckes
  • Paul Hueber
  • Stephen J Knohl
  • David J Bernard
  • Michael Eckhaus
  • Jennie W Owens

Detail Information

Publications4

  1. ncbi request reprint First report of prenatal biochemical diagnosis of Lowe syndrome
    S F Suchy
    Laboratory of Genetic Disease Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Prenat Diagn 18:1117-21. 1998
    ..We report here the first case of prenatal diagnosis for Lowe syndrome by measuring phosphatidylinositol 4,5-bisphosphate 5-phosphatase activity in cultured amniocytes...
  2. pmc The deficiency of PIP2 5-phosphatase in Lowe syndrome affects actin polymerization
    Sharon F Suchy
    National Human Genome Research Institute, Bethesda, MD 20892, USA
    Am J Hum Genet 71:1420-7. 2002
    ..These findings point to a general mechanism to explain how this PIP(2) 5-phosphatase deficiency might produce the Lowe syndrome phenotype...
  3. ncbi request reprint Sertoli cell vacuolization and abnormal germ cell adhesion in mice deficient in an inositol polyphosphate 5-phosphatase
    Elina Hellsten
    Genetic Diseases Research Branch, National Human Genome Research Institute, Veterinary Resources Program, Office of Director, National Institutes of Health, 49 Convent Drive, Bethesda, MD 20892, USA
    Biol Reprod 66:1522-30. 2002
    ....
  4. pmc Dent Disease with mutations in OCRL1
    Richard R Hoopes
    Department of Medicine, SUNY Upstate Medical University, Syracuse, NY, USA
    Am J Hum Genet 76:260-7. 2005
    ..It establishes that the diagnostic criteria for disorders resulting from mutations in the Lowe syndrome gene OCRL1 need to be revised...