{"product_id":"embryos-genes-and-birth-defects-9780470090107","title":"Embryos Genes and Birth Defects","description":"\u003cb\u003eBook Synopsis\u003c\/b\u003e\u003cbr\u003eIn 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.\u003cbr\u003e\u003cbr\u003e\u003cb\u003eTable of Contents\u003c\/b\u003e\u003cbr\u003ePreface 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","brand":"Wiley","offers":[{"title":"Default Title","offer_id":53515414241623,"sku":"9780470090107","price":145.76,"currency_code":"GBP","in_stock":true}],"url":"https:\/\/bookcurl.com\/products\/embryos-genes-and-birth-defects-9780470090107","provider":"Book Curl","version":"1.0","type":"link"}