S Steinberg

Summary

Affiliation: Kennedy Krieger Institute
Country: USA

Publications

  1. pmc A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian population
    Sebastien Levesque
    Department of Pediatrics, Universite de Sherbrooke, Sherbrooke, Canada
    BMC Med Genet 13:72. 2012
  2. pmc Human and great ape red blood cells differ in plasmalogen levels and composition
    Ann B Moser
    Hugo W Moser Research Institute at Kennedy Krieger, and Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    Lipids Health Dis 10:101. 2011
  3. ncbi request reprint The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum
    Steven Steinberg
    Peroxisomal Diseases Laboratory, Kennedy Krieger Institute and Department of Neurology, Johns Hopkins University, Baltimore, MD, USA
    Mol Genet Metab 83:252-63. 2004
  4. pmc Biochemical analysis of cultured chorionic villi for the prenatal diagnosis of peroxisomal disorders: biochemical thresholds and molecular sensitivity for maternal cell contamination detection
    S Steinberg
    The Kennedy Krieger Institute and Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    J Med Genet 42:38-44. 2005

Collaborators

  • Garry Cutting
  • Nancy Braverman
  • Hugo Moser
  • Li Chen
  • Sebastien Levesque
  • Joseph G Hacia
  • Ann B Moser
  • Luigi Bouchard
  • Pascale Marquis
  • Ken Dewar
  • Charles Morin
  • Simon Pierre Guay
  • Josee Villeneuve
  • Sarn Jiralerspong
  • Wing Yan Yik
  • John J Ely
  • Kimberly D Siegmund
  • Oliver A Ryder
  • D Rick Lee
  • Krishna Ramaswamy
  • Paul A Watkins

Detail Information

Publications4

  1. pmc A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian population
    Sebastien Levesque
    Department of Pediatrics, Universite de Sherbrooke, Sherbrooke, Canada
    BMC Med Genet 13:72. 2012
    ..Increased incidence of ZS has been suspected in French-Canadians of the Saguenay-Lac-St-Jean region (SLSJ) of Quebec, but this remains unsolved...
  2. pmc Human and great ape red blood cells differ in plasmalogen levels and composition
    Ann B Moser
    Hugo W Moser Research Institute at Kennedy Krieger, and Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    Lipids Health Dis 10:101. 2011
    ..Plasmalogen deficiency is also found in the brain tissue of individuals with Alzheimer disease...
  3. ncbi request reprint The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum
    Steven Steinberg
    Peroxisomal Diseases Laboratory, Kennedy Krieger Institute and Department of Neurology, Johns Hopkins University, Baltimore, MD, USA
    Mol Genet Metab 83:252-63. 2004
    ..This systematic, hierarchical approach to mutation identification is therefore a valuable tool to identify rapidly the molecular etiology of suspected PBD-ZSS disorders...
  4. pmc Biochemical analysis of cultured chorionic villi for the prenatal diagnosis of peroxisomal disorders: biochemical thresholds and molecular sensitivity for maternal cell contamination detection
    S Steinberg
    The Kennedy Krieger Institute and Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    J Med Genet 42:38-44. 2005
    ....