rdf-syntax-grammar
mods:
  schema location: http://www.loc.gov/mods/v3 http://www.loc.gov/standards/mods/v3/mods-3-2.xsd
  title info:
    title: FSHD facioscapulohumeral muscular dystrophy
    sub title: clinical medicine and molecular cell biology
  name:
    name part: Upadhyaya, M. (Meena)
  name:
    name part: Cooper, David N. (David Neil)
    name part: 1957-
  type of resource: text
  genre: bibliography
  origin info:
    place:
      place term: enk
    date issued: 2004
    issuance: monographic
  language:
    language term: eng
  language:
    language term: fre
  physical description:
    form: print
    extent: xix, 392 pages : illustrations ; 24 cm.
  table of contents: Introduction and overview of FSHD / M. Upadhyaya, D.N. Cooper -- Facioscapulohumeral muscular dystrophy: historical background and literature review / M. Rogers -- Facioscapulohumeral muscular dystrophy: a clinician's experience / G.W. Padberg -- Mapping of the FSHD gene and the discovery of the pathognomonic deletion / R.R. Frants ... [et al.] -- Identification and characterization of candidate genes in FSHD region / S. van Koningsbruggen, R.R. Frants, S.M. van der Maarel -- Evolution and structural organization of the homeobox-containing repeat D4Z4 / J.E. Hewitt -- Subtelomeric exchange between 4q and 10q sequences / R.R. Frants, S.M. van der Maarel -- Genomic analysis of the subtelomeric regions of human chromosomes 10q and 4q: relevance to FSHD / M. van Geel, J.E. Hewitt -- The DUX gene family and FSHD / F. Coppie ... [et al.] -- Facioscapulohumeral muscular dystrophy (FSHD) : a disorder of muscle gene repression / R. Tupler, D. Gabellini -- Genotype-phenotype relationships in FSHD / P. Lunt, M. Upadhyaya, M.C. Koch -- Mosaicism and FSHD / P.G.M. van Overveld, R.R. Frants, S.M. van der Maarel -- Retinal vascular abnormalities in FSHD : a therapeutic message; clues to pathogenesis / R.B. Fitzsimons -- Unusual clinical features associated with FSHD / Y.K. Hayashi -- Molecular diagnosis of FSHD / R.J.L.F. Lemmers ... [et al.] -- FSHD myoblasts: in vitro studies / D.A. Figlewicz ... [et al.] -- Exploring hypotheses about the molecular aetiology of FSHD : loss of heterochromatin spreading and other long-range interaction models / M. Ehrlich -- Histological, immunological, molecular, and ultrastructural characteristics of FSHD muscle / M.T. Rogers, M. Upadhyaya, C.A. Sewry -- Linkage analysis in non-chromosome 4-linked FSHD / K. Bastress ... [et al.] -- Facioscapulohumeral muscular dystrophy : gender differences and genetic counselling in a complex disorder / M. Manuela de Oliveira Tonini, M. Zatz -- Genetic counselling for facioscapulohumeral muscular dystrophy (FSH…
  note: edited by Meena Upadhyaya and David N Cooper.
  note: Includes bibliographical references and index.
  subject:
    topic: Muscular Dystrophy, Facioscapulohumeral
    topic: genetics
  subject:
    topic: Genetic Techniques
  classification: RC935.M7 F74 2004
  classification: 616.7/48
  classification: 2004 F-828
  classification: WE 559 F948 2004
  identifier: 1859962440
  identifier: 2004003241
  record info:
    record content source: DLC
    record creation date: 040211
    record change date: 20191203131239.0
    record identifier: in00004499413