Inborn Errors of Development
The Molecular Basis of Clinical Disorders of Morphogenesis
2nd Edition
Published on 9. April 2008
Book
Hardback
1664 pages
978-0-19-530691-0 (ISBN)
Description
Inborn Errors of Development is the definitive work on genetically caused abnormalities of human development. Despite the explosion in genetic advances, the causes of two-thirds of all birth defects remain unknown. However, we are on the brink of a revolution in this area, and this book is at the forefront. It is the first book to connect the disease-causing gene to its biochemical pathway and to the structural/functional disorder. Mutations of the gene, the clinical picture, genetic counselling and prognosis, and any known treatments are discussed.
Reviews / Votes
This text has achieved 'classic' status... the editors and authors have excelled in communicating mind-bogglingly complex processes to a very wide readership Human Genetics This is an impressive and exciting book, a must-have for clinical geneticists and basic scientists at all levels of their careers...There is no publication comparable to this wonderful and well edited and written book. The quality is exceptional. Luis F Escobar, MD, Doody's NotesMore details
Series
Edition
2nd Revised edition
Language
English
Place of publication
New York
United States
Target group
Professional and scholarly
Edition type
Revised edition
Product notice
sewn/stitched
Paper over boards
Illustrations
514 colour illustrations and 250 black and white illustrations
Dimensions
Height: 287 mm
Width: 229 mm
Thickness: 69 mm
Weight
4245 gr
ISBN-13
978-0-19-530691-0 (9780195306910)
Copyright in bibliographic data and cover images is held by Nielsen Book Services Limited or by the publishers or by their respective licensors: all rights reserved.
Schweitzer Classification
Other editions
Previous edition
Charles J. Epstein
Inborn Errors of Development
The Molecular Basis of Clinical Disorders of Morphogenesis
Book
12/2003
Oxford University Press Inc
€194.99
Article exhausted; check for reprint
Content
I GENERAL CONCEPTS ; II PATTERNS OF DEVELOPMENT ; III DEFINED PATHWAYS ; Part A. The Sonic Hedgehog Signaling Pathway ; Part B. The Wnt (Wingless-type) Signaling Pathway ; Part C. The Transforming Growth Factor-ss (TGF-ss) Signaling Pathway ; Part D. The Tumor Necrosis Factor Signaling Pathway ; Part E. The Fibroblast Growth Factor Signaling Pathway ; Part F. The Gilal Cell-Derived Neurotrophic Factor Signaling Pathway ; Part G. The Endothelin Signaling Pathway ; Part H. The Notch Signaling Pathway ; Part I. The P13K-LKB1 Pathway ; Part J. The RAS Pathway ; IV GENE FAMILIES NOT YET IN PATHWAYS ; Part A. The Homeobox Gene Family ; Part B. The Paired-Box (PAX) Gene Family ; Part C. The Forkhead Gene Family ; Part D. The T-Box Gene Family ; Part E. The SOX Gene Family ; V PROCESSES ; Part A. Regulation of Chromatin Structure and Gene Expression ; Part B. Transcription Factors ; Part C. RNA Localisation and Control of Activity ; Part D. Posttranslational Control and Ubiquitination ; Part E. Cell Cycle, Proliferation, and Apoptosis ; Part F. Guanine Nucleotide-Binding Proteins ; Part G. Microtubule Motos, Cilia, and Cytoskeleton ; Part H. Vesicle-Mediated Trafficking and Endocytosis ; Part I. Extracellular Matrix ; Part J. Guidance Molecules ; Part K. Junctions, Transporters and Channels ; VI DYSMORPHIC DISEASE GENES OF UNKNOWN FUNCTION OR UNCLASSIFIED