Josef Ekstein

Summary

Publications

  1. ncbi request reprint Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population
    Josef Ekstein
    Dor Yeshorim, The Committee for the Prevention of Jewish Genetic Diseases, Brooklyn, New York, USA
    Am J Med Genet A 129:162-4. 2004
  2. doi request reprint A founder mutation in the MPL gene causes congenital amegakaryocytic thrombocytopenia (CAMT) in the Ashkenazi Jewish population
    Chaim Jalas
    Bonei Olam, Center for Rare Jewish Genetic Disorders, 1755 46th St, Brooklyn, NY 11204, USA
    Blood Cells Mol Dis 47:79-83. 2011
  3. ncbi request reprint Premarital and prenatal screening for cystic fibrosis: experience in the Ashkenazi Jewish population
    Ruth Kornreich
    Department of Human Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA
    Genet Med 6:415-20. 2004
  4. ncbi request reprint The rabbi's dilemma. [Interview by Alison George]
    Josef Ekstein
    New Sci 181:44-7. 2004
  5. pmc Geographic distribution of disease mutations in the Ashkenazi Jewish population supports genetic drift over selection
    Neil Risch
    Department of Genetics, Stanford University, Standford, CA 94305, USA
    Am J Hum Genet 72:812-22. 2003
  6. ncbi request reprint Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene
    Sylvia L Anderson
    Department of Biological Sciences, Fordham University, Larkin Hall 160, Bronx, NY 10458, USA
    Hum Genet 115:185-90. 2004

Collaborators

  • Chaim Jalas
  • G Bach
  • Sylvia L Anderson
  • Ruth Kornreich
  • Neil Risch
  • Lisa Edelmann
  • Robert J Desnick
  • Nicole R Toto
  • Mary C Donnelly
  • Lauretta A LeVoci
  • Berish Y Rubin
  • Erin M Keefe
  • Hua Tang
  • Howard Katzenstein

Detail Information

Publications6

  1. ncbi request reprint Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population
    Josef Ekstein
    Dor Yeshorim, The Committee for the Prevention of Jewish Genetic Diseases, Brooklyn, New York, USA
    Am J Med Genet A 129:162-4. 2004
    ..We observed no carriers of the Q347X mutation. Among the 30 GSDIa affected AJ subjects, all were homozygous for R83C. These results indicate that R83C is the only prevalent mutation for GSDIa in the Ashkenazi population...
  2. doi request reprint A founder mutation in the MPL gene causes congenital amegakaryocytic thrombocytopenia (CAMT) in the Ashkenazi Jewish population
    Chaim Jalas
    Bonei Olam, Center for Rare Jewish Genetic Disorders, 1755 46th St, Brooklyn, NY 11204, USA
    Blood Cells Mol Dis 47:79-83. 2011
    ..The identification of this mutation will enable population carrier testing and will facilitate the identification and treatment of individuals homozygous for this mutation...
  3. ncbi request reprint Premarital and prenatal screening for cystic fibrosis: experience in the Ashkenazi Jewish population
    Ruth Kornreich
    Department of Human Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA
    Genet Med 6:415-20. 2004
    ..In addition, the CF mutation frequencies in a group of > 7,000 screenees for AJ diseases who were of < 100% AJ descent are reported...
  4. ncbi request reprint The rabbi's dilemma. [Interview by Alison George]
    Josef Ekstein
    New Sci 181:44-7. 2004
  5. pmc Geographic distribution of disease mutations in the Ashkenazi Jewish population supports genetic drift over selection
    Neil Risch
    Department of Genetics, Stanford University, Standford, CA 94305, USA
    Am J Hum Genet 72:812-22. 2003
    ....
  6. ncbi request reprint Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene
    Sylvia L Anderson
    Department of Biological Sciences, Fordham University, Larkin Hall 160, Bronx, NY 10458, USA
    Hum Genet 115:185-90. 2004
    ..An analysis of the gene frequency of this mutation in a random sample of 4,090 Ashkenazi Jewish individuals has revealed a carrier frequency of one in 108...