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: Uniparental Disomy (UPD) in Clinical Genetics
    sub title: A Guide for Clinicians and Patients
  name:
    name part: Liehr, Thomas.
    role:
      role term: creator
    role:
      role term: author.
  name:
    name part: SpringerLink (Online service)
  type of resource: text
  origin info:
    place:
      place term: gw
    date issued: 2014
    issuance: monographic
  language:
    language term: eng
  physical description:
    form: electronic
    form: electronic resource
    reformatting quality: access
    form: remote
    extent: XVIII, 192 p. 36 illus., 26 illus. in color. online resource.
  abstract: This book focus on genetic diagnostics for Uniparental Disomy (UPD), a chromosomal disorder defined by the exceptional presence of a chromosome pair derived from only one parent, which leads to a group of rare diseases in humans. First the molecular and cytogenetic background of UPD is described in detail; subsequently, all available information of the various chromosomal origins and the latest findings on genotype-phenotype correlations and clinical consequences are discussed. Numerous personal reports from families with a child suffering from a UPD-induced syndrome serve to complement the scientific and clinical aspects. Their experiences with genetic counseling and living with a family member affected by this chromosomal aberration present a vivid picture of what UPD means for its victims.
  table of contents: Introduction -- Formation of UPD -- UPD in diagnostics and genetic counseling -- UPD related syndromes caused by imprinting -- Maternal UPD by chromosome -- Paternal UPD by chromosome -- UPD of unclear parental origin by chromosome -- UPD of multiple chromosomes or chromosomal regions -- Acquired UPD -- Patient organizations in connection with UPD-. Glossary-. References -- Index.
  note: by Thomas Liehr.
  subject:
    topic: Medicine
  subject:
    topic: Human genetics
  subject:
    topic: Cytogenetics
  subject:
    topic: Laboratory medicine
  subject:
    topic: Reproductive medicine
  subject:
    topic: Biomedicine
  subject:
    topic: Human Genetics
  subject:
    topic: Cytogenetics
  subject:
    topic: Reproductive Medicine
  subject:
    topic: Laboratory Medicine
  classification: RB155-155.8
  classification: QH431
  classification: 611.01816
  classification: 599.935
  related item:
    title info:
      title: Springer eBooks
  identifier: 9783642552885
  identifier: http://dx.doi.org/10.1007/978-3-642-55288-5
  record info:
    record creation date: 140625
    record change date: 20151204145909.0
    record identifier: 978-3-642-55288-5