{"product_id":"embryos-genes-and-birth-defects-hardback-9780470090107","title":"Embryos, Genes and Birth Defects (Hardback) 9780470090107","description":"\u003cfont face=\"Georgia\"\u003e\r\n\u003cp\u003e\u003cfont size=\"6\"\u003eEmbryos, Genes and Birth Defects\u003c\/font\u003e\u003cbr\u003e\r\n\r\n\r\n\r\n\r\n\r\n\u003c\/p\u003e\n\u003cp\u003e\u003cfont size=\"4\"\u003ePatrizia Ferretti (Edited by), P Ferretti (Author), Andrew Copp (Edited by), Cheryll Tickle (Edited by), Gudrun Moore (Edited by)\u003c\/font\u003e\u003c\/p\u003e\r\n\r\n\u003cp\u003e\u003cfont size=\"3\"\u003e9780470090107, Wiley\u003c\/font\u003e\u003c\/p\u003e\r\n\r\n\u003cp\u003e\u003cfont size=\"3\"\u003eHardback, published 21 April 2006\u003c\/font\u003e\u003c\/p\u003e\r\n\r\n\u003cp\u003e\u003cfont size=\"3\"\u003e576 pages\u003cbr\u003e25 x 17.6 x 3.7 cm, 1.162 kg\u003c\/font\u003e\u003c\/p\u003e\r\n\r\n\r\n\r\n\r\n\r\n\u003cp align=\"justify\"\u003e\u003cstrong\u003e\u003cfont size=\"3\"\u003eThe first edition of \u003ci\u003e\u003cb\u003eEmbryos, Genes and Birth Defects\u003c\/b\u003e\u003c\/i\u003e, edited by the late Peter Thorogood, was a radical new book aimed at bridging the gap between the medical disciplines of embryology and dysmorphology, and recent advances in cellular, molecular and developmental biology. This new edition remains unique in its breadth and brings up to date our understanding of birth defects and of the strategies utilized to gain such knowledge. It features new chapters on human cytogenetics, mutagenesis and the eyes and ears.   \u003cp\u003eThe book presents key topics in developmental biology and explains how they provide the foundations for understanding clinical birth defects. The first six chapters introduce concepts and strategies adopted to elucidate developmental anomalies leading to birth defects. The book then focuses on specific organs and reviews the cellular and molecular mechanisms affecting their development and how disruption of these mechanisms by genetic or environmental factors may underlie certain birth defects. The chapters are concise and provide up-to-date coverage of topics in a format that is easily accessible and yet at the forefront of research.\u003c\/p\u003e \u003cp\u003eWritten primarily for paediatricians, obstetricians, clinical geneticists and allied workers, this book guides the reader through the contribution of modern molecular biology to our understanding of human development. Developmental and cellular biologists will learn how errors in the cellular and genetic mechanism can lead to classical disorders, diseases and syndromes.\u003c\/p\u003e\u003c\/font\u003e\u003c\/strong\u003e\u003c\/p\u003e\r\n\r\n\u003cp\u003e\u003cfont size=\"3\"\u003e\u003cp\u003ePreface to the First Edition ix\u003cbr\u003ePreface to the Second Edition xi\u003cbr\u003eContributors xiii\u003c\/p\u003e \u003cp\u003e\u003cb\u003e1. The Relationship between Genotype and Phenotype: Some Basic Concepts 1\u003c\/b\u003e\u003cbr\u003e\u003ci\u003ePhilip Stanier and Gudrun Moore\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003eIntroduction 1\u003cbr\u003eThe relationship between genotype and phenotype 2\u003cbr\u003eThe role of 'model' systems 8\u003cbr\u003eThe changing concept of homology 9\u003c\/p\u003e \u003cp\u003e\u003cb\u003e2. Uses of Databases in Dysmorphology 19\u003c\/b\u003e\u003cbr\u003e\u003ci\u003eMichael Baraitser\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003eWhat is a syndrome? 19\u003cbr\u003eSome of these problems are addressed by dysmorphology databases 20\u003cbr\u003eWhere databases do not help 23\u003cbr\u003eDysmorphology databases 24\u003cbr\u003eHow databases work 26\u003c\/p\u003e \u003cp\u003e\u003cb\u003e3. Human Cytogenetics\u003c\/b\u003e\u003cbr\u003e\u003ci\u003eJ. D. A. Delhanty\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003eIntroduction 33\u003cbr\u003ePopulation cytogenetics 34\u003cbr\u003eStructural anomalies 35\u003cbr\u003eThe genesis of chromosome abnormalities 36\u003cbr\u003eEmbryo survival 44\u003cbr\u003eThe cause of high levels of chromosome abnormality in human embryos 44\u003cbr\u003eRelative parental risks – age, translocations, inversions, gonadal and germinal mosaics 45\u003c\/p\u003e \u003cp\u003e\u003cb\u003e4. Identification and Analysis of Genes Involved in Congenital Malformation Syndromes 51\u003c\/b\u003e\u003cbr\u003e\u003ci\u003ePeter J. Scambler\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003eGene identification 51\u003cbr\u003eBiological analysis of genes implicated in birth defect syndromes 59\u003cbr\u003eAnimal models 64\u003cbr\u003eWhy study rare human birth defect syndromes? 70\u003c\/p\u003e \u003cp\u003e\u003cb\u003e5. Transgenic Technology and Its Role in Understanding Normal and Abnormal Mammalian Development 79\u003c\/b\u003e\u003cbr\u003e\u003ci\u003eValerie Vidal and Andreas Schedl\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003eIntroduction 79\u003cbr\u003eTransgenic mice 80\u003cbr\u003eGenetic manipulation using gene targeting in ES cells 88\u003cbr\u003eOutlook and future developments 95\u003c\/p\u003e \u003cp\u003e\u003cb\u003e6. Chemical Teratogens: Hazards, Tools and Clues 99\u003c\/b\u003e\u003cbr\u003e\u003ci\u003eNigel A. Brown (with revisions by Cheryll Tickle\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003eIntroduction 99\u003cbr\u003eTeratogens and human malformations 100\u003cbr\u003eGeneral strategy in chemical teratogenesis 102\u003cbr\u003eValproic acid 102\u003cbr\u003eGene–teratogen interaction 106\u003cbr\u003eTeratogens and phenocopies 106\u003cbr\u003eTeratogens as manipulative tools 108\u003cbr\u003eTeratogens as clues 110\u003cbr\u003eFinal comments 117\u003c\/p\u003e \u003cp\u003e\u003cb\u003e7. The Limbs 123\u003c\/b\u003e\u003cbr\u003e\u003ci\u003ePatrizia Ferretti and Cheryll Tickle\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003eDevelopmental anatomy of the human limb 123\u003cbr\u003eMain classes of limb defects 125\u003cbr\u003eContemporary studies on mechanisms of limb development 127\u003cbr\u003eLimb regeneration 140\u003cbr\u003eHow, when and where experimental studies elucidate abnormal development 145\u003cbr\u003eAgenda for the future 151\u003c\/p\u003e \u003cp\u003e\u003cb\u003e8. Brain and Spinal Cord 167\u003c\/b\u003e\u003cbr\u003e\u003ci\u003eAndrew J. Copp\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003eIntroduction 167\u003cbr\u003eOverview of nervous system development 169\u003cbr\u003eDefects of CNS development: towards a genetic and developmental understanding 175\u003cbr\u003eAgenda for the future 192\u003c\/p\u003e \u003cp\u003e\u003cb\u003e9. Birth Defects Affecting the Eye 199\u003c\/b\u003e\u003cbr\u003e\u003ci\u003eJane C. Sowden\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003eThe eye 199\u003cbr\u003eDevelopment of the eye 200\u003cbr\u003eCongenital eye defects and paediatric blindness 204\u003cbr\u003eGene mutations underlying congenital eye defects 206\u003cbr\u003eCellular and molecular mechanisms affecting eye development and how they elucidate the causes of abnormal development 213\u003cbr\u003eAgenda for the future 220\u003c\/p\u003e \u003cp\u003e\u003cb\u003e10. The Ear 231\u003c\/b\u003e\u003cbr\u003e\u003ci\u003eSarah Spiden and Karen P. Steel\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003eIntroduction 231\u003cbr\u003eDevelopment of the outer and middle ear 233\u003cbr\u003eDevelopment of the inner ear 234\u003cbr\u003eMain classes of ear defects 236\u003cbr\u003eMechanisms involved in development of the outer and middle ear 248\u003cbr\u003eMechanisms underlying inner ear development 249\u003cbr\u003eMechanisms underlying development of inner ear sensory epithelia 251\u003cbr\u003eMechanisms involved in endolymph homeostasis 253\u003cbr\u003eThe future 254\u003c\/p\u003e \u003cp\u003e\u003cb\u003e11. Development of the Enteric Nervous System in Relation to Hirschsprung's Disease 263\u003c\/b\u003e\u003cbr\u003e\u003ci\u003eHeather M. Young, Donald F. Newgreen and Alan J. Burns\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003eIntroduction 263\u003cbr\u003eAnatomy and function of the ENS 263\u003cbr\u003eThe best-characterized developmental defect of the ENS – Hirschsprung's disease 265\u003cbr\u003eCell biology of ENS development 266\u003cbr\u003eMolecular biology of ENS development and Hirschsprung-like dysplasias 270\u003cbr\u003eHSCR: current and future treatments 286\u003cbr\u003eConclusions 288\u003c\/p\u003e \u003cp\u003e\u003cb\u003e12. The Head 301\u003c\/b\u003e\u003cbr\u003e\u003ci\u003eGillian M. Morriss-Kay\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003eIntroduction 301\u003cbr\u003eDevelopmental anatomy 302\u003cbr\u003eMain classes of craniofacial defect 371\u003cbr\u003eCellular and molecular mechanisms 321\u003cbr\u003eAgenda for the future 332\u003c\/p\u003e \u003cp\u003e\u003cb\u003e13. The Heart 341\u003c\/b\u003e\u003cbr\u003e\u003ci\u003eDeborah Henderson, Mary R. Hutson and Margaret L. Kirby\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003eDevelopmental anatomy 341\u003cbr\u003eMajor cell populations needed for heart development 345\u003cbr\u003eMolecular regulation of heart development 347\u003cbr\u003eCardiovascular defects 356\u003cbr\u003eThe Future 362\u003c\/p\u003e \u003cp\u003e\u003cb\u003e14. The Skin 373\u003c\/b\u003e\u003cbr\u003e\u003ci\u003eAhmad Waseem and Irene M. Leigh\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003eIntroduction 373\u003cbr\u003eDevelopmental anatomy 374\u003cbr\u003eMain classes of skin defects 391\u003cbr\u003eFuture perspectives 400\u003c\/p\u003e \u003cp\u003e\u003cb\u003e15. The Vertebral Column 411\u003c\/b\u003e\u003cbr\u003e\u003ci\u003eDavid Rice and Susanne Dietrich\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003eIntroduction 411\u003cbr\u003eDevelopmental anatomy of the vertebral column 414\u003cbr\u003eMaking the vertebral column 421\u003cbr\u003eAgenda for the future 444\u003c\/p\u003e \u003cp\u003e\u003cb\u003e16. The Kidney 463\u003c\/b\u003e\u003cbr\u003e\u003ci\u003ePaul J. D. Winyard\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003eIntroduction 463\u003cbr\u003eStructure and function 464\u003cbr\u003eDevelopmental anatomy of nephrogenesis 465\u003cbr\u003eTranscription factors 473\u003cbr\u003eGrowth factors and their receptors 479\u003cbr\u003eSurvival\/proliferation factors 487\u003cbr\u003eCell adhesion molecules 488\u003cbr\u003eOther molecules 492\u003cbr\u003eNon-genetic causes of renal malformations 495\u003cbr\u003eAgenda for the future 499\u003c\/p\u003e \u003cp\u003e\u003cb\u003e17. The Teeth 515\u003c\/b\u003e\u003cbr\u003e\u003ci\u003eIrma Thesleff\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003eDevelopmental anatomy 515\u003cbr\u003eMain classes of defects 517\u003cbr\u003eCellular and molecular mechanisms affecting development 520\u003cbr\u003eHow cellular and molecular developmental mechanisms assist in elucidating the causes of abnormal development 525\u003cbr\u003eAgenda for the future 529\u003c\/p\u003e \u003cp\u003eIndex 537\u003c\/p\u003e\u003c\/font\u003e\u003c\/p\u003e\r\n\r\n\u003cp\u003e\u003cfont size=\"3\"\u003eSubject Areas: Biology, life sciences [\u003ca title=\"See our other books on Biology, life sciences\" href=\"https:\/\/freshlyprintedbooks.co.uk\/search?q=%22Biology,%20life%20sciences%20%5BPS%5D%22\"\u003ePS\u003c\/a\u003e]\u003c\/font\u003e\u003c\/p\u003e\r\n\r\n\r\n\u003c\/font\u003e","brand":"Wiley","offers":[{"title":"Brand New","offer_id":52257034010904,"sku":"9780470090107","price":119.99,"currency_code":"GBP","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0730\/2037\/5320\/files\/9780470090107.jpg?v=1781275921","url":"https:\/\/freshlyprintedbooks.co.uk\/products\/embryos-genes-and-birth-defects-hardback-9780470090107","provider":"Freshly Printed Books","version":"1.0","type":"link"}