Ciliopathies : A Reference for Clinicians

Saved in:
Bibliographic Details
Title: Ciliopathies : A Reference for Clinicians
Description: The ciliopathies are a group of rare diseases that often affect multiple systems within the body, and are caused by defects in the function or structure of cilia. When cilia go wrong, there are profound consequences; these are discussed in detail for the first time in Ciliopathies: a reference for clinicians. The book provides a clinical overview and reference to this newly emergent group of disorders ranging from Alström syndrome to putative ciliopathic disorders. Each chapter provides an in-depth discussion on a specific disorder, including the latest scientific research together with a description of its features, and practical guidelines on diagnosis. The authors also examine the evidence for dysfunction of cilia in cancer and more common disorders. Ciliopathies: a reference for clinicians will appeal to those involved in the care of patients with ciliopathies, including specialists in the fields of nephrology, diabetes, cardiology, and ophthalmology, and non-clinical researchers interested in cilia biology.
Authors: Thomas D. Kenny, Philip L. Beales
Resource Type: eBook.
Subjects: Cilia and ciliary motion, Genetic disorders, Ciliary Motility Disorders, Cilia--genetics, Cilia--pathology, Rare Diseases
Categories: MEDICAL / Genetics
Database: eBook Collection (EBSCOhost)
FullText Links:
  – Type: ebook-pdf
  – Type: ebook-epub
Text:
  Availability: 0
Header DbId: nlebk
DbLabel: eBook Collection (EBSCOhost)
An: 648118
RelevancyScore: 1057
AccessLevel: 6
PubType: eBook
PubTypeId: ebook
PreciseRelevancyScore: 1057.36352539063
IllustrationInfo
ImageInfo – Size: thumb
  Target: https://rps2images.ebscohost.com/rpsweb/othumb?id=NL$648118$PDF&s=r
– Size: medium
  Target: https://rps2images.ebscohost.com/rpsweb/othumb?id=NL$648118$PDF&s=d
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Ciliopathies : A Reference for Clinicians
– Name: Abstract
  Label: Description
  Group: Ab
  Data: The ciliopathies are a group of rare diseases that often affect multiple systems within the body, and are caused by defects in the function or structure of cilia. When cilia go wrong, there are profound consequences; these are discussed in detail for the first time in Ciliopathies: a reference for clinicians. The book provides a clinical overview and reference to this newly emergent group of disorders ranging from Alström syndrome to putative ciliopathic disorders. Each chapter provides an in-depth discussion on a specific disorder, including the latest scientific research together with a description of its features, and practical guidelines on diagnosis. The authors also examine the evidence for dysfunction of cilia in cancer and more common disorders. Ciliopathies: a reference for clinicians will appeal to those involved in the care of patients with ciliopathies, including specialists in the fields of nephrology, diabetes, cardiology, and ophthalmology, and non-clinical researchers interested in cilia biology.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AR" term="%22Thomas+D%2E+Kenny%22">Thomas D. Kenny</searchLink><br /><searchLink fieldCode="AR" term="%22Philip+L%2E+Beales%22">Philip L. Beales</searchLink>
– Name: TypePub
  Label: Resource Type
  Group: TypPub
  Data: eBook.
– Name: Subject
  Label: Subjects
  Group: Su
  Data: <searchLink fieldCode="DE" term="%22Cilia+and+ciliary+motion%22">Cilia and ciliary motion</searchLink><br /><searchLink fieldCode="DE" term="%22Genetic+disorders%22">Genetic disorders</searchLink><br /><searchLink fieldCode="DE" term="%22Ciliary+Motility+Disorders%22">Ciliary Motility Disorders</searchLink><br /><searchLink fieldCode="DE" term="%22Cilia--genetics%22">Cilia--genetics</searchLink><br /><searchLink fieldCode="DE" term="%22Cilia--pathology%22">Cilia--pathology</searchLink><br /><searchLink fieldCode="DE" term="%22Rare+Diseases%22">Rare Diseases</searchLink>
– Name: SubjectBISAC
  Label: Categories
  Group: Su
  Data: <searchLink fieldCode="ZK" term="%22MEDICAL+%2F+Genetics%22">MEDICAL / Genetics</searchLink>
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=nlebk&AN=648118
RecordInfo BibRecord:
  BibEntity:
    Classifications:
      – Code: 616.042
        Scheme: ddc
        Type: prePub
    Languages:
      – Code: eng
        Text: English
    Subjects:
      – SubjectFull: Cilia and ciliary motion
        Type: general
      – SubjectFull: Genetic disorders
        Type: general
      – SubjectFull: Ciliary Motility Disorders
        Type: general
      – SubjectFull: Cilia--genetics
        Type: general
      – SubjectFull: Cilia--pathology
        Type: general
      – SubjectFull: Rare Diseases
        Type: general
    Titles:
      – TitleFull: Ciliopathies : A Reference for Clinicians
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Thomas D. Kenny
      – PersonEntity:
          Name:
            NameFull: Philip L. Beales
      – PersonEntity:
          Name:
            NameFull: Thomas D. Kenny
      – PersonEntity:
          Name:
            NameFull: Philip L. Beales
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 01
              Type: published
              Y: 2014
            – D: 04
              M: 02
              Type: profile
              Y: 2014
          Identifiers:
            – Type: isbn-print
              Value: 9780199658763
            – Type: isbn-print
              Value: 9780191633379
            – Type: isbn-electronic
              Value: 9780191633362
          Titles:
            – TitleFull: Ciliopathies : A Reference for Clinicians
              Type: main
ResultId 1