Reviews
"A concise, well illustrated and easy readable text. The publishers should be commended for the good quality of X-rays."-Journal of Pediatric Endocrinology and Metabolism "Written by a group of international experts, this book is of great interest to pediatricians, pediatric endocrinologists, orthopedic surgeons and geneticists. This volume describes recent advances in the molecular pathology of a series of diseases such as vitamin D receptor defects, collagen diseases, osteogenesis imperfecta, ricketts, calcinosis, fibrous dysplasia, diseases of the parathyroid, etc....A concise, well illustrated and easy readable text. The publishers should be commended for the good quality of X-rays." - Journal of Pediatric Endocrinology and Metabolism
Table of Content
Genetic and Environmental Determinants of Variance in Bone Size, Mass, and Volumetric Density of the Proximal Femur, Ego Seeman. How to Determine If, and by How Much, Genetic Variation Influences Osteoporosis, John L. Hopper. Vitamin D Receptor Gene Polymorphisms and Bone Mineral Homeostasis, Serge Ferrari, René Rizzoli, and Jean-Philippe Bonjour. Type 1 Collagen Polymorphisms and Osteoporosis, Stuart H. Ralston. Osteogenesis Imperfecta, Paul A. Dawson and Joan C. Marini. Vitamin D-Dependent Rickets Type I and Type II, Sachiko Kitanaka and Shigeaki Kato. Inherited Phosphate Wasting Disorders, Michael J. Econs and Kenneth E. White. X-Linked Nephrolithiasis/Dent's Disease and Mutations in the ClC-5 Chloride Channel, Steven J. Scheinman and Rajesh V. Thakker. Genetics of Tumoral Calcinosis, Kandaswamy Jayaraj and Kenneth Lyles. Fibrous Dysplasia and the McCune-Albright Syndrome, Lee S. Weinstein. The Molecular Basis for Parathyroid Hormone Resistance in Pseudohypoparathyroidism, Michael A. Levine. Fibrodysplasia Ossificans Progressiva, Eileen M. Shore, John G. Rogers, Roger Smith, Francis H. Gannon, Martin Delatycki, J. Andoni Urtizberea, James Triffitt, Martine Le Merrer, and Frederick S. Kaplan. Disorders Resulting from Inactivating or Activating Mutations in the Ca2+o-Sensing Receptor, Edward M. Brown. Multiple Endocrine Neoplasia Type 1 (MEN1), Rajesh V. Thakker. The Ret Signaling System and Its Role in Hereditary Medullary Thyroid Carcinoma, Robert F. Gagel and Gilbert Cote. Genetics of Paget's Disease of Bone, Frederick R. Singer and Robin J. Leach. Osteopetrosis, L. Lyndon Key, Jr. Hypophosphatasia, Michael P. Whyte. Jansen and Blomstrand: Two Human Chondrodysplasias Caused by PTH/PTHrP Receptor Mutations, Harald Jüppner and Caroline Silve. Genetic Linkage Analysis in Human Disease, Suzanne M. Leal and Marcy C. Speer. The Identification of Disease Genes in a Candidate Region, Fiona Francis and Tim M. Strom. Finding Mutations in Disease Genes, Peter S. N. Rowe.Index.
