S M Hoffman

Summary

Affiliation: Miami University
Country: USA

Publications

  1. ncbi 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 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 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
  4. ncbi 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
  5. ncbi 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
  6. ncbi 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

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

Detail Information

Publications6

  1. ncbi 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 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 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...
  4. ncbi 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...
  5. ncbi 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...
  6. ncbi 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...