S M Hoffman

Summary

Affiliation: Miami University
Country: USA

Publications

  1. ncbi request reprint JAK3 maps to human chromosome 19p12 within a cluster of proto-oncogenes and transcription factors
    S M Hoffman
    Human Genome Center, Lawrence Livermore National Laboratory, Livermore, California 94550, USA
    Genomics 43:109-11. 1997
  2. ncbi request reprint Complex beta-satellite repeat structures and the expansion of the zinc finger gene cluster in 19p12
    E E Eichler
    Human Genome Center, BBRP, L 452, Lawrence Livermore National Laboratory, Livermore, California 94550, USA
    Genome Res 8:791-808. 1998
  3. ncbi request reprint Organization and evolution of the cytochrome P450 CYP2A-2B-2F subfamily gene cluster on human chromosome 19
    S M Hoffman
    Human Genome Center, Lawrence Livermore National Laboratory, CA 94551, USA
    J Mol Evol 41:894-900. 1995
  4. pmc A genetic polymorphism in coumarin 7-hydroxylation: sequence of the human CYP2A genes and identification of variant CYP2A6 alleles
    P Fernandez-Salguero
    National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Am J Hum Genet 57:651-60. 1995
  5. ncbi request reprint Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene
    M D Briggs
    Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, Cedars Sinai Research Institute, Los Angeles, California 90048, USA
    Nat Genet 10:330-6. 1995
  6. ncbi request reprint Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4
    R A Ophoff
    MGC Department of Human Genetics, Sylvius Laboratory, Leiden University, The Netherlands
    Cell 87:543-52. 1996

Collaborators

  • H W Mohrenweiser
  • E E Eichler
  • J E Lamerdin
  • Frank J Gonzalez
  • R A Ophoff
  • M D Briggs
  • P Fernandez-Salguero
  • R R Frants
  • M N Vergouwe
  • J Haan
  • M H Hofker
  • M D Ferrari
  • R van Eijk
  • D E Bulman
  • M Ferrari
  • G M Terwindt
  • G J van Ommen
  • D Lindhout
  • P J Oefner
  • A S Olsen
  • J D Huang
  • O Pelkonen
  • A Rautio
  • G R Mortier
  • W E Evans
  • L M King
  • R S Lachman
  • E S Gaines
  • J R Idle
  • D L Rimoin
  • H Raunio
  • S Cholerton
  • J G Leroy

Detail Information

Publications6

  1. ncbi request reprint JAK3 maps to human chromosome 19p12 within a cluster of proto-oncogenes and transcription factors
    S M Hoffman
    Human Genome Center, Lawrence Livermore National Laboratory, Livermore, California 94550, USA
    Genomics 43:109-11. 1997
  2. ncbi request reprint Complex beta-satellite repeat structures and the expansion of the zinc finger gene cluster in 19p12
    E E Eichler
    Human Genome Center, BBRP, L 452, Lawrence Livermore National Laboratory, Livermore, California 94550, USA
    Genome Res 8:791-808. 1998
    ..The sequence data described in this paper have been submitted to GenBank under accession nos. AC003973 and AC004004.]..
  3. ncbi request reprint Organization and evolution of the cytochrome P450 CYP2A-2B-2F subfamily gene cluster on human chromosome 19
    S M Hoffman
    Human Genome Center, Lawrence Livermore National Laboratory, CA 94551, USA
    J Mol Evol 41:894-900. 1995
    ..The identification of all genes and pseudogenes in this cluster also makes it possible to determine the origins of some previously known variant P450 transcripts...
  4. pmc A genetic polymorphism in coumarin 7-hydroxylation: sequence of the human CYP2A genes and identification of variant CYP2A6 alleles
    P Fernandez-Salguero
    National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Am J Hum Genet 57:651-60. 1995
    ..The allelic frequencies of CYP2A6v1 and CYP2A6v2 differed significantly between Caucasian, Asian, and African-American populations. These studies establish the existence of a new cytochrome P450 genetic polymorphism...
  5. ncbi request reprint Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene
    M D Briggs
    Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, Cedars Sinai Research Institute, Los Angeles, California 90048, USA
    Nat Genet 10:330-6. 1995
    ..Our data demonstrate that PSACH and some forms of MED are allelic and suggest an essential role for Ca++ binding in COMP structure and function...
  6. ncbi request reprint Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4
    R A Ophoff
    MGC Department of Human Genetics, Sylvius Laboratory, Leiden University, The Netherlands
    Cell 87:543-52. 1996
    ..In EA-2, we found two mutations disrupting the reading frame. Thus, FHM and EA-2 can be considered as allelic channelopathies. A similar etiology may be involved in common types of migraine...