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  3. Medical Genetics for the MRCOG and Beyond
  • Cited by 2
      • 2nd edition
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    • Publisher:
      Cambridge University Press
      Publication date:
      June 2014
      March 2014
      ISBN:
      9781107444966
      9781107661301
      DOI:
      https://doi.org/10.1017/CBO9781107444966
      Dimensions:
      Weight & Pages:
      Dimensions:
      (216 x 138 mm)
      Weight & Pages:
      0.21kg, 143 Pages
      • Subjects:
      Obstetrics and Gynecology, Reproductive Medicine, Medicine
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    • Selected: Digital
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    Subjects:
    Obstetrics and Gynecology, Reproductive Medicine, Medicine
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    Book description

    This second edition has been comprehensively updated to reflect current clinical practice and the latest technical developments, including pre-implantation genetic diagnosis, array CGH, QF-PCR, non-invasive prenatal diagnosis and next generation sequencing amongst others. The first section covers basic principles, while the second outlines the more common situations where obstetrics and gynaecology interact with medical genetics. The third section contains real-life clinical case scenarios which have been selected to represent typical problems and to highlight areas which, if mismanaged, could have serious medico-legal consequences. Together with its accompanying website (www.essentialmedgen.com), it provides an invaluable guide to the use and selection of useful online genetic resources. This book is essential reading for candidates preparing for the MRCOG postgraduate examination, and any health professionals requiring a clear understanding of medical genetics and its increasingly frequent uses in obstetrics and gynaecology, where incorrect genetic advice can have serious consequences.

    Reviews

    'The book has ambitious objectives, and does a good job meeting them.'

    Source: Doody's Reviews

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    Contents

    Contents
    References

    Further reading

    AitkenDA, CrossleyJA, SpencerK, Prenatal screening for neural tube defects and aneuploidy. In: Emery and Rimoin’s Principles and Practice of Medical Genetics, 5th edn., RimoinDL, ConnorJM, PyeritzRE, KorfBR (eds), Churchill Livingstone: Edinburgh, 2007.
    AntoniouA, PharoahPD, NarodS, et al., Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies, Am J Hum Genet, 2003;72:1117–30.
    AntoniouAC, RookusM, AndrieuN, et al., Reproductive and hormonal factors, and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers: results from the International BRCA1/2 Carrier Cohort Study, Cancer Epidemiol Biomarkers Prev, 2009;18:601–10.
    ChiuRW, AkolekarR, ZhengYW, et al., Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study, BMJ, 2011;342:c7401.
    DasheJS, TwicklerDM, Santos-RamosR, et al., Alpha-fetoprotein detection of neural tube defects and the impact of standard ultrasound, Am J Obstet Gynecol, 2006;195:1623–8.
    Emery and Rimoin’s Principles and Practice of Medical Genetics. 6th edn., Elsevier: London, 2013; online edition at www.sciencedirect.com.
    FullertonG, HamiltonM, MaheshwariA, Should non-mosaic Klinefelter syndrome men be labelled as infertile in 2009?, Hum Reprod, 2010;25:588–97.
    HarperPS, Practical Genetic Counselling, 7th edn., Hodder Arnold: London, 2010.
    Scottish Perinatal and Infant Mortality and Morbidity Report 2010, NHS Scotland: (www.healthcareimprovementscotland.org) Epub 2012.
    SouthernKW, MérelleMM, Dankert-RoelseJE, NagelkerkeAD, Newborn screening for cystic fibrosis, Cochrane Database Syst Rev, 2009;CD001402.
    TobiasES, ConnorM, Ferguson-SmithM, Essential Medical Genetics, 6th edn., Singapore: Wiley-Blackwell, 2011.

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