Principles and Practice of Medical Genetics
Book 1
Book 2
Book 3
Book 1
Book 2
Book 3
Book 1
Book 2
Book 3
Book 1
Book 2
Book 3
Home > Medicine & Health Science textbooks > Pre-clinical medicine: basic sciences > Medical genetics > Principles and Practice of Medical Genetics
Principles and Practice of Medical Genetics

Principles and Practice of Medical Genetics


     0     
5
4
3
2
1



Available


X
About the Book

The only comprehensive book in the field, this text is a veritable encyclopedia of medical genetics. The third edition has been updated in so many ways it is practically a new book, but it carries on its reputation from previous editions as the dominant work on the subject worldwide. Highly authoritative and clinically focused, the text covers the whole field of medical genetics, including an introductory section on basic principles of the subject - which has been completely updated.The book's contributors are among the foremost experts on the conditions which they describe. It is pitched at a level useful to clinical geneticists, but also accessible to other specialists (paediatricians, haematologists, neurologists, ophthalmologists, oncologists, general physicians) needing guidance on genetic matters. Where previously the book went only as far as diagnosis, it now includes focus on management of conditions and contains 30 new clinical chapters. Features: * Revised section on basic principles: up-to-date information on molecular and cytogenetic assays including recombinant DNA, PCR amplification, blot analysis, and in situ hybridization protocols * Full-color examples of FISH probes and chromosomal painting * More focus on the clinical aspects of genetics including photographs of the full spectrum of clinical phenotypes * Latest information on teratology * An up-to-date human gene map contributed by Victor McKusick * Stronger emphasis on the management of conditions including genetic screening and gene therapy * Reviews of the second edition include these excerpts: A landmark book...well written, attractively designed and properly organized...The hundreds of illustrations, and references to the primary literature make this book a must..." The New England Journal of Medicine "80% of its pages are devoted to a comprehensive clinical coverage of genetic disorders...it seems to be a mine of useful information, well tabulated and extensively referenced." Trends in Genetics "No medical geneticist will practice without this book. Every library that deals with human biology or medicine should order this text. Highly recommended!" Annals of Human Biology "There is no competitor as a basic text for the trainee in clinical genetics, or for pediatric, obstetric and general medical libraries." British Journal of Hospital Medicine"

Table of Contents:
VOLUME 1 PART 1 BASIC PRINCIPLES: History of Medical Genetics. Nature and Frequency of Genetic Disease. Gene Structure and Function. Mutations in Human Diseases: Nature and Consequences . Molecular Methodology. Mendelian Inheritance. Segregation Analysis. Analysis of Genetic Linkage. Genomics. Morbid Anatomy of the Human Genome. Chromosomal Basis of Inheritance. Cytogenetic Analysis. Mitochondrial Genetics. Multifactorial Inheritance and Genetic Analysis of Multifactorial Disease. Population Genetics. Pathogenesis of Genetic Disease. Genetic Epidemiology. Human Malformations. Twins and Twinning. The Molecular Biology of Cancer. The Biologic Basis of Ageing: Implications for Medical Genetics. Pharmacogenetics. The Human Major Histocompatibility Complex and Disease Susceptibility. PART II CLINICAL APPLICATIONS: GENERAL PRINCIPLES: Genetic Assessment and Pedigree Analysis. Risk Estimation in Genetic Counseling. Carrier Screening. Prenatal Screening for Neural Tube Defects and Down Syndrome. Prenatal Diagnosis. Neonatal Screening. Genetic Counseling. Strategies for the Treatment of Genetic Disease. Ethical Aspects of Genetic Screening and Diagnosis. Legal Issues in Genetics. APPROACHES to COMMON CLINICAL PROBLEMS: Infertility. Fetal Loss. A Clinical Approach to the Dysmorphic Child. Human Teratology. Abnormal Mental Development. Abnormal Body Size and Proportion. Transplantation Genetics. APPROACHES to SPECIFIC DISORDERS:: Cardiovascular Disorders: Congenital Heart Disease. Common Generic Determinants of Coagulation and Fibrinolysis. Cardiomyopathies. Familial Dysrhythmias. Molecular Genetics of Hypertension. Pre-Eclampsia. Chromosome Disorders: Down Syndrome and Other Autosomal Trisomies. Sex Chromosome Abnormalities. Deletions and Other Structural Abnormalities of the Autosomes. Connective Tissue Disorders: Marfan Syndrome and Other Disorders of Fibrillin. Ehlers-Danlos Syndrome. Pseudoxanthoma Elasticu M, Cutix Laxa, And Other Disorders of Elastic Tissue. Craniofacial Disorders: Craniofacial Disorders. Deafn


Best Sellers


Product Details
  • ISBN-13: 9780443048517
  • Publisher: Elsevier Health Sciences
  • Publisher Imprint: Churchill Livingstone
  • Edition: Revised edition
  • Language: English
  • Weight: 7063 gr
  • ISBN-10: 0443048517
  • Publisher Date: 18 Nov 1996
  • Binding: Hardback
  • Height: 285 mm
  • Returnable: N
  • Width: 216 mm


Similar Products

Add Photo
Add Photo

Customer Reviews

REVIEWS      0     
Click Here To Be The First to Review this Product
Principles and Practice of Medical Genetics
Elsevier Health Sciences -
Principles and Practice of Medical Genetics
Writing guidlines
We want to publish your review, so please:
  • keep your review on the product. Review's that defame author's character will be rejected.
  • Keep your review focused on the product.
  • Avoid writing about customer service. contact us instead if you have issue requiring immediate attention.
  • Refrain from mentioning competitors or the specific price you paid for the product.
  • Do not include any personally identifiable information, such as full names.

Principles and Practice of Medical Genetics

Required fields are marked with *

Review Title*
Review
    Add Photo Add up to 6 photos
    Would you recommend this product to a friend?
    Tag this Book Read more
    Does your review contain spoilers?
    What type of reader best describes you?
    I agree to the terms & conditions
    You may receive emails regarding this submission. Any emails will include the ability to opt-out of future communications.

    CUSTOMER RATINGS AND REVIEWS AND QUESTIONS AND ANSWERS TERMS OF USE

    These Terms of Use govern your conduct associated with the Customer Ratings and Reviews and/or Questions and Answers service offered by Bookswagon (the "CRR Service").


    By submitting any content to Bookswagon, you guarantee that:
    • You are the sole author and owner of the intellectual property rights in the content;
    • All "moral rights" that you may have in such content have been voluntarily waived by you;
    • All content that you post is accurate;
    • You are at least 13 years old;
    • Use of the content you supply does not violate these Terms of Use and will not cause injury to any person or entity.
    You further agree that you may not submit any content:
    • That is known by you to be false, inaccurate or misleading;
    • That infringes any third party's copyright, patent, trademark, trade secret or other proprietary rights or rights of publicity or privacy;
    • That violates any law, statute, ordinance or regulation (including, but not limited to, those governing, consumer protection, unfair competition, anti-discrimination or false advertising);
    • That is, or may reasonably be considered to be, defamatory, libelous, hateful, racially or religiously biased or offensive, unlawfully threatening or unlawfully harassing to any individual, partnership or corporation;
    • For which you were compensated or granted any consideration by any unapproved third party;
    • That includes any information that references other websites, addresses, email addresses, contact information or phone numbers;
    • That contains any computer viruses, worms or other potentially damaging computer programs or files.
    You agree to indemnify and hold Bookswagon (and its officers, directors, agents, subsidiaries, joint ventures, employees and third-party service providers, including but not limited to Bazaarvoice, Inc.), harmless from all claims, demands, and damages (actual and consequential) of every kind and nature, known and unknown including reasonable attorneys' fees, arising out of a breach of your representations and warranties set forth above, or your violation of any law or the rights of a third party.


    For any content that you submit, you grant Bookswagon a perpetual, irrevocable, royalty-free, transferable right and license to use, copy, modify, delete in its entirety, adapt, publish, translate, create derivative works from and/or sell, transfer, and/or distribute such content and/or incorporate such content into any form, medium or technology throughout the world without compensation to you. Additionally,  Bookswagon may transfer or share any personal information that you submit with its third-party service providers, including but not limited to Bazaarvoice, Inc. in accordance with  Privacy Policy


    All content that you submit may be used at Bookswagon's sole discretion. Bookswagon reserves the right to change, condense, withhold publication, remove or delete any content on Bookswagon's website that Bookswagon deems, in its sole discretion, to violate the content guidelines or any other provision of these Terms of Use.  Bookswagon does not guarantee that you will have any recourse through Bookswagon to edit or delete any content you have submitted. Ratings and written comments are generally posted within two to four business days. However, Bookswagon reserves the right to remove or to refuse to post any submission to the extent authorized by law. You acknowledge that you, not Bookswagon, are responsible for the contents of your submission. None of the content that you submit shall be subject to any obligation of confidence on the part of Bookswagon, its agents, subsidiaries, affiliates, partners or third party service providers (including but not limited to Bazaarvoice, Inc.)and their respective directors, officers and employees.

    Accept

    Fresh on the Shelf


    Inspired by your browsing history


    Your review has been submitted!

    You've already reviewed this product!