{"product_id":"embryos-genes-and-birth-defects-isbn-9780470090107","title":"Embryos, Genes and Birth Defects","description":"The 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  Preface to the First Edition.  \u003cp\u003ePreface to the Second Edition.\u003c\/p\u003e \u003cp\u003eContributors.\u003c\/p\u003e \u003cp\u003e \u003cb\u003e                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                           1.1. 1. The Relationship between Genotype and Phenotype:\u003c\/b\u003e \u003cb\u003eSome Basic Concepts\u003c\/b\u003e (\u003ci\u003ePhilip Stanier and Gudrun Moore).\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003eIntroduction.\u003c\/p\u003e \u003cp\u003eThe relationship between genotype and phenotype.\u003c\/p\u003e \u003cp\u003eThe role of ‘model systems’.\u003c\/p\u003e \u003cp\u003eThe changing concept of homology.\u003c\/p\u003e \u003cp\u003e\u003cb\u003e2. Uses of Databases in Dysmorphology\u003c\/b\u003e (\u003ci\u003eMichael Baraitser).\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003eWhat is a syndrome?.\u003c\/p\u003e \u003cp\u003eSome of these problems are addressed by dysmorphology databases.\u003c\/p\u003e \u003cp\u003eWhere databases do not help.\u003c\/p\u003e \u003cp\u003eDysmorphology databases.\u003c\/p\u003e \u003cp\u003eHow databases work.\u003c\/p\u003e \u003cp\u003e\u003cb\u003e3. Human Cytogenetics\u003c\/b\u003e  (\u003ci\u003eJ. D. A. Delhanty).\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003eIntroduction.\u003c\/p\u003e \u003cp\u003ePopulation cytogenetics.\u003c\/p\u003e \u003cp\u003eStructural anomalies.\u003c\/p\u003e \u003cp\u003eThe genesis of chromosome abnormalities.\u003c\/p\u003e \u003cp\u003eEmbryo survival.\u003c\/p\u003e \u003cp\u003eThe cause of high levels of chromosome abnormality in human embryos.\u003c\/p\u003e \u003cp\u003eRelative parental risks – age, translocations, inversions, gonadal and germinal mosaics.\u003c\/p\u003e \u003cp\u003e\u003cb\u003e4. Identification and Analysis of Genes Involved in Congenital Malformation Syndromes\u003c\/b\u003e (\u003ci\u003ePeter J. Scambler).\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003eGene identification.\u003c\/p\u003e \u003cp\u003eBiological analysis of genes implicated in birth defect syndromes.\u003c\/p\u003e \u003cp\u003eAnimal models.\u003c\/p\u003e \u003cp\u003eWhy study rare human birth defect syndromes?.\u003c\/p\u003e \u003cp\u003e\u003cb\u003e5. Transgenic Technology and Its Role in Understanding Normal and Abnormal Mammalian Development\u003c\/b\u003e (\u003ci\u003eValerie Vidal and Andreas Schedl).\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003eIntroduction.\u003c\/p\u003e \u003cp\u003eTransgenic mice.\u003c\/p\u003e \u003cp\u003eGenetic manipulation using gene targeting in ES cells.\u003c\/p\u003e \u003cp\u003eOutlook and future developments.\u003c\/p\u003e \u003cp\u003e\u003cb\u003e6. Chemical Teratogens: Hazards, Tools and Clues\u003c\/b\u003e (\u003ci\u003eNigel A. Brown) (with revisions by Cheryll Tickle).\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003eIntroduction.\u003c\/p\u003e \u003cp\u003eTeratogens and human malformations.\u003c\/p\u003e \u003cp\u003eGeneral strategy in chemical teratogenesis.\u003c\/p\u003e \u003cp\u003eValproic acid.\u003c\/p\u003e \u003cp\u003eGene–teratogen interaction.\u003c\/p\u003e \u003cp\u003eTeratogens and phenocopies.\u003c\/p\u003e \u003cp\u003eTeratogens as manipulative tools.\u003c\/p\u003e \u003cp\u003eTeratogens as clues.\u003c\/p\u003e \u003cp\u003eFinal comments.\u003c\/p\u003e \u003cp\u003e\u003cb\u003e7. The Limbs\u003c\/b\u003e (\u003ci\u003ePatrizia Ferretti and Cheryll Tickle).\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003eDevelopmental anatomy of the human limb.\u003c\/p\u003e \u003cp\u003eMain classes of limb defects.\u003c\/p\u003e \u003cp\u003eContemporary studies on mechanisms of limb development.\u003c\/p\u003e \u003cp\u003eLimb regeneration.\u003c\/p\u003e \u003cp\u003eHow, when and where experimental studies elucidate abnormal development.\u003c\/p\u003e \u003cp\u003eAgenda for the future.\u003c\/p\u003e \u003cp\u003e\u003cb\u003e8. Brain and Spinal Cord\u003c\/b\u003e \u003ci\u003eAndrew J. Copp.\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003eIntroduction.\u003c\/p\u003e \u003cp\u003eOverview of nervous system development.\u003c\/p\u003e \u003cp\u003eDefects of CNS development: towards a genetic and developmental understanding.\u003c\/p\u003e \u003cp\u003eAgenda for the future.\u003c\/p\u003e \u003cp\u003e\u003cb\u003e9. Birth Defects Affecting the Eye\u003c\/b\u003e (\u003ci\u003eJane C. Sowden).\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003eThe eye.\u003c\/p\u003e \u003cp\u003eDevelopment of the eye.\u003c\/p\u003e \u003cp\u003eCongenital eye defects and paediatric blindness.\u003c\/p\u003e \u003cp\u003eGene mutations underlying congenital eye defects.\u003c\/p\u003e \u003cp\u003eCellular and molecular mechanisms affecting eye development and how they elucidate the causes of abnormal development.\u003c\/p\u003e \u003cp\u003eAgenda for the future.\u003c\/p\u003e \u003cp\u003e\u003cb\u003e10. The Ear\u003c\/b\u003e (\u003ci\u003eSarah Spiden and Karen P. Steel).\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003eIntroduction.\u003c\/p\u003e \u003cp\u003eDevelopment of the outer and middle ear.\u003c\/p\u003e \u003cp\u003eDevelopment of the inner ear.\u003c\/p\u003e \u003cp\u003eMain classes of ear defects.\u003c\/p\u003e \u003cp\u003eMechanisms involved in development of the outer and middle ear.\u003c\/p\u003e \u003cp\u003eMechanisms underlying inner ear development.\u003c\/p\u003e \u003cp\u003eMechanisms underlying development of inner ear sensory epithelia.\u003c\/p\u003e \u003cp\u003eMechanisms involved in endolymph homeostasis.\u003c\/p\u003e \u003cp\u003eThe future.\u003c\/p\u003e \u003cp\u003e\u003cb\u003e11. Development of the Enteric Nervous System in Relation to Hirschsprung’s Disease\u003c\/b\u003e (\u003ci\u003eHeather M. Young, Donald F. Newgreen and Alan J. Burns).\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003eIntroduction.\u003c\/p\u003e \u003cp\u003eAnatomy and function of the ENS.\u003c\/p\u003e \u003cp\u003eThe best-characterized developmental defect of the ENS – Hirschsprung’s disease.\u003c\/p\u003e \u003cp\u003eCell biology of ENS development.\u003c\/p\u003e \u003cp\u003eMolecular biology of ENS development and Hirschsprung-like dysplasias.\u003c\/p\u003e \u003cp\u003eHSCR: current and future treatments.\u003c\/p\u003e \u003cp\u003eConclusions.\u003c\/p\u003e \u003cp\u003e\u003cb\u003e12. The Head\u003c\/b\u003e (\u003ci\u003eGillian M. Morriss-Kay).\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003eIntroduction.\u003c\/p\u003e \u003cp\u003eDevelopmental anatomy.\u003c\/p\u003e \u003cp\u003eMain classes of craniofacial defect.\u003c\/p\u003e \u003cp\u003eCellular and molecular mechanisms.\u003c\/p\u003e \u003cp\u003eAgenda for the future.\u003c\/p\u003e \u003cp\u003e\u003cb\u003e13. The Heart\u003c\/b\u003e (\u003ci\u003eDeborah Henderson, Mary R. Hutson and Margaret L. Kirby).\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003eDevelopmental anatomy.\u003c\/p\u003e \u003cp\u003eMajor cell populations needed for heart development.\u003c\/p\u003e \u003cp\u003eMolecular regulation of heart development.\u003c\/p\u003e \u003cp\u003eCardiovascular defects.\u003c\/p\u003e \u003cp\u003eThe Future.\u003c\/p\u003e \u003cp\u003e\u003cb\u003e14. The Skin\u003c\/b\u003e (\u003ci\u003eAhmad Waseem and Irene M. Leigh).\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003eIntroduction.\u003c\/p\u003e \u003cp\u003eDevelopmental anatomy.\u003c\/p\u003e \u003cp\u003eMain classes of skin defects.\u003c\/p\u003e \u003cp\u003eFuture perspectives.\u003c\/p\u003e \u003cp\u003e\u003cb\u003e15. The Vertebral Column\u003c\/b\u003e (\u003ci\u003eDavid Rice and Susanne Dietrich).\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003eIntroduction.\u003c\/p\u003e \u003cp\u003eDevelopmental anatomy of the vertebral column.\u003c\/p\u003e \u003cp\u003eMaking the vertebral column.\u003c\/p\u003e \u003cp\u003eAgenda for the future.\u003c\/p\u003e \u003cp\u003e\u003cb\u003e16. The Kidney\u003c\/b\u003e (\u003ci\u003ePaul J. D. Winyard).\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003eIntroduction.\u003c\/p\u003e \u003cp\u003eStructure and function.\u003c\/p\u003e \u003cp\u003eDevelopmental anatomy of nephrogenesis.\u003c\/p\u003e \u003cp\u003eTranscription factors.\u003c\/p\u003e \u003cp\u003eGrowth factors and their receptors.\u003c\/p\u003e \u003cp\u003eSurvival\/proliferation factors.\u003c\/p\u003e \u003cp\u003eCell adhesion molecules.\u003c\/p\u003e \u003cp\u003eOther molecules.\u003c\/p\u003e \u003cp\u003eNon-genetic causes of renal malformations.\u003c\/p\u003e \u003cp\u003eAgenda for the future.\u003c\/p\u003e \u003cp\u003e\u003cb\u003e17. The Teeth\u003c\/b\u003e (\u003ci\u003eIrma Thesleff).\u003c\/i\u003e\u003c\/p\u003e \u003cp\u003eDevelopmental anatomy.\u003c\/p\u003e \u003cp\u003eMain classes of defects.\u003c\/p\u003e \u003cp\u003eCellular and molecular mechanisms affecting development.\u003c\/p\u003e \u003cp\u003eHow cellular and molecular developmental mechanisms assist in elucidating the causes of abnormal development.\u003c\/p\u003e \u003cp\u003eAgenda for the future.\u003c\/p\u003e \u003cp\u003eIndex.\u003c\/p\u003e  \u003cb\u003eDr. Patrizia Ferretti.\u003c\/b\u003e Developmental Biology Unit, Institute of Child Health, University College London.  \u003cp\u003e\u003cb\u003eProf. Andrew Copp (Dean of Institute).\u003c\/b\u003e Neural Development Unit, Institute of Child Health, University College London.\u003c\/p\u003e \u003cp\u003e\u003cb\u003eProf. Cheryll Tickle.\u003c\/b\u003e Professor of Anatomy \u0026amp; Physiology, The Wellcome Trust Building, University of Dundee.\u003c\/p\u003e \u003cp\u003e\u003cb\u003eProf. Gudrun Moore.\u003c\/b\u003e Institute of Child Health, University College London.\u003c\/p\u003e \u003cp\u003eThe editors are all distinguished developmental biologists with a broad range of expertise in human birth defects. Andrew Copp holds an endowed chair in Developmental Neurobiology at University College London and is Dean of the world-renowned Institute of Child Health.\u003c\/p\u003e  In the Western world, birth defects constitute the greatest single cause of infant mortality and a significant cause of infant morbidity, with a major impact on healthcare services and the affected families. Birth defects are the consequence of defective embryonic development that can be due to genetic, epigenetic or teratogenic factors.  \u003cp\u003eThe first edition of \u003ci\u003eEmbryos, Genes and Birth Defects\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 yes and ears.\u003c\/p\u003e \u003cp\u003eThe book present key topics in developmental biology and explains how they provide the foundations of an understanding of 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 an 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 cellular and genetic mechanisms can lead to classical disorders, diseases and syndromes.\u003c\/p\u003e","brand":"Wiley","offers":[{"title":"Default Title","offer_id":47989121319141,"sku":"NP9780470090107","price":215.95,"currency_code":"USD","in_stock":false}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/1842\/7735\/files\/9780470090107.jpg?v=1761782882","url":"https:\/\/k12savings.com\/products\/embryos-genes-and-birth-defects-isbn-9780470090107","provider":"K12savings","version":"1.0","type":"link"}