Sharon F Suchy
Affiliation: National Institutes of Health
- First report of prenatal biochemical diagnosis of Lowe syndromeS 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...
- The deficiency of PIP2 5-phosphatase in Lowe syndrome affects actin polymerizationSharon 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...
- Sertoli cell vacuolization and abnormal germ cell adhesion in mice deficient in an inositol polyphosphate 5-phosphataseElina 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....
- Dent Disease with mutations in OCRL1Richard 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...