C M Eng

Summary

Affiliation: Mount Sinai School of Medicine
Country: USA

Publications

  1. ncbi request reprint Prenatal genetic carrier testing using triple disease screening
    C M Eng
    Department of Human Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA
    JAMA 278:1268-72. 1997
  2. pmc Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease
    A K Topaloglu
    Department of Human Genetics, Mount Sinai School of Medicine, New York, New York 10029, USA
    Mol Med 5:806-11. 1999
  3. pmc Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes
    C M Eng
    Department of Human Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA
    Mol Med 3:174-82. 1997
  4. ncbi request reprint Fabry disease: twenty novel alpha-galactosidase A mutations causing the classical phenotype
    G A Ashley
    Department of Human Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA
    J Hum Genet 46:192-6. 2001
  5. ncbi request reprint Experiences in molecular-based prenatal screening for Ashkenazi Jewish genetic diseases
    C M Eng
    Department of Human Genetics, Mount Sinai School of Medicine of New York University New York 10029, USA
    Adv Genet 44:275-96. 2001
  6. ncbi request reprint Nonradioactive detection of the common Connexin 26 167delT and 35delG mutations and frequencies among Ashkenazi Jews
    J Dong
    Department of Human Genetics, Mount Sinai School of Medicine of New York University, New York, New York 10029, USA
    Mol Genet Metab 73:160-3. 2001
  7. ncbi request reprint Safety and efficacy of recombinant human alpha-galactosidase A--replacement therapy in Fabry's disease
    C M Eng
    Mount Sinai School of Medicine, New York, NY 10029, USA
    N Engl J Med 345:9-16. 2001
  8. ncbi request reprint The lifetime risks of breast cancer in Ashkenazi Jewish carriers of BRCA1 and BRCA2 mutations
    J M Satagopan
    Memorial Sloan-Kettering Cancer Center, New York, New York 10021, USA
    Cancer Epidemiol Biomarkers Prev 10:467-73. 2001
  9. ncbi request reprint Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene
    C M Eng
    Department of Human Genetics, Mount Sinai School of Medicine, New York, New York 10029
    Hum Mutat 3:103-11. 1994

Collaborators

Detail Information

Publications9

  1. ncbi request reprint Prenatal genetic carrier testing using triple disease screening
    C M Eng
    Department of Human Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA
    JAMA 278:1268-72. 1997
    ..However, simultaneous prenatal carrier screening for prevalent genetic disease has not been evaluated, and patient acceptance and attitudes toward this testing strategy remain undefined...
  2. pmc Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease
    A K Topaloglu
    Department of Human Genetics, Mount Sinai School of Medicine, New York, New York 10029, USA
    Mol Med 5:806-11. 1999
    ..2.1.22; alpha-Gal A). The nature of the molecular lesions in the alpha-Gal A gene in 30 unrelated families was determined to provide precise heterozygote detection, prenatal diagnosis, and define genotype-phenotype correlations...
  3. pmc Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes
    C M Eng
    Department of Human Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA
    Mol Med 3:174-82. 1997
    ..1. To determine the nature and frequency of the molecular lesions causing the classical and milder variant Fabry phenotypes and for precise carrier detection, the alpha-Gal A lesions in 42 unrelated Fabry hemizygotes were determined...
  4. ncbi request reprint Fabry disease: twenty novel alpha-galactosidase A mutations causing the classical phenotype
    G A Ashley
    Department of Human Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA
    J Hum Genet 46:192-6. 2001
    ..These studies further define the heterogeneity of mutations in the alpha-Gal A gene causing the classic Fabry disease phenotype, and permit precise heterozygote detection and prenatal diagnosis...
  5. ncbi request reprint Experiences in molecular-based prenatal screening for Ashkenazi Jewish genetic diseases
    C M Eng
    Department of Human Genetics, Mount Sinai School of Medicine of New York University New York 10029, USA
    Adv Genet 44:275-96. 2001
    ....
  6. ncbi request reprint Nonradioactive detection of the common Connexin 26 167delT and 35delG mutations and frequencies among Ashkenazi Jews
    J Dong
    Department of Human Genetics, Mount Sinai School of Medicine of New York University, New York, New York 10029, USA
    Mol Genet Metab 73:160-3. 2001
    ..This sensitive, specific, and relatively inexpensive method can reliably identify affected newborns and patients with NSRD as well as facilitate carrier screening for Connexin 26 deafness in the Ashkenazi Jewish community...
  7. ncbi request reprint Safety and efficacy of recombinant human alpha-galactosidase A--replacement therapy in Fabry's disease
    C M Eng
    Mount Sinai School of Medicine, New York, NY 10029, USA
    N Engl J Med 345:9-16. 2001
    ....
  8. ncbi request reprint The lifetime risks of breast cancer in Ashkenazi Jewish carriers of BRCA1 and BRCA2 mutations
    J M Satagopan
    Memorial Sloan-Kettering Cancer Center, New York, New York 10021, USA
    Cancer Epidemiol Biomarkers Prev 10:467-73. 2001
    ..The risks appear to be different for carriers of BRCA1 and BRCA2 mutations...
  9. ncbi request reprint Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene
    C M Eng
    Department of Human Genetics, Mount Sinai School of Medicine, New York, New York 10029
    Hum Mutat 3:103-11. 1994
    ..Studies of additional Fabry families will provide information on the nature and frequency of the mutations causing this disease as well as potential insights into the structure/function relationships of this lysosomal hydrolase...