Ciliopathies: A reference for clinicians

Hardcover | October 5, 2013

EditorThomas D. Kenny, Philip L. Beales

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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 referencefor clinicians.The book provides a clinical overview and reference to this newly emergent group of disorders ranging from Alstrom 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 ofits 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.

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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 referencefor clinicians.The book provides a clinical...

Philip Beales is Professor of Medical and Molecular Genetics at UCL and Wellcome Trust Senior Research Fellow in Clinical Science. He is Director of the Centre for Translational Genomics (GOSgene) and Head of the Cilia Disorders Laboratory at the UCL Institute of Child Health. He is best known for his clinical and genetic research into...

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Format:HardcoverDimensions:320 pages, 9.69 × 6.73 × 0.01 inPublished:October 5, 2013Publisher:Oxford University PressLanguage:English

The following ISBNs are associated with this title:

ISBN - 10:0199658765

ISBN - 13:9780199658763

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Table of Contents

1. Philip L. Beales and Thomas D. Kenny: Towards the diagnosis of a ciliopathy2. Richard Paisey: Alstrom Syndrome3. Miriam Schmidts: Jeune Syndrome and the ciliary chondrodysplasias4. Victoria Harrison and Andrea H. Nemeth: Joubert syndrome and Joubert Syndrome related disorders5. Philip L. Beales and Elizabeth Forsythe: Bardet-Biedl Syndrome6. Thomas D. Kenny, Philip L. Beales, and Ronald Roepman: Leber congenital amaurosis and other non-syndromic retinal ciliopathies7. Gabrielle Wheway and Colin A. Johnson: Meckel-Gruber Syndrome8. Shalabh Srivastava and John A. Sayer: Nephronophthisis9. Brunella Franco: Oral-facial-digital syndromes10. Richard Sandford: Autosomal dominant polycystic kidney disease11. Carsten Bergman: Autosomal recessive polycystic kidney disease12. Claire Hogg: Primary ciliary dyskinesia13. Maria Bitner-Glindzicz and Zubin Saihan: Usher Syndrome14. Kate Baker: Syndromes not yet proven to be ciliopathies