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Book Cover
Author Pritchard, D. J. (Dorian J.), author

Title Medical genetics at a glance / Dorian J. Pritchard, Bruce R. Korf
Edition Third edition
Published Chichester, West Sussex : John Wiley & Sons, 2013
Chichester, West Sussex : Wiley-Blackwell, 2013


Location Call no. Vol. Availability
 W'PONDS 1 DAY LOAN  616.042 Pri/Mga 2013  AVAILABLE
 W'PONDS 7 DAY LOAN  616.042 Pri/Mga 2013  AVAILABLE
 W'PONDS 7 DAY LOAN  616.042 Pri/Mga 2013  AVAILABLE
 W'PONDS 7 DAY LOAN  616.042 Pri/Mga 2013  AVAILABLE
 W'PONDS 7 DAY LOAN  616.042 Pri/Mga 2013  AVAILABLE
 W'PONDS 7 DAY LOAN  616.042 Pri/Mga 2013  AVAILABLE
 W'PONDS 7 DAY LOAN  616.042 Pri/Mga 2013  DUE 30-06-20
Description 231 pages : colour illustrations ; 28 cm
Series at a glance series
At a glance series (Oxford, England)
Contents The place of genetics in medicine -- Pedigree drawing -- Mendel's laws -- Principles of autosomal dominant inheritance and pharmacogenetics -- Autosomal dominant inheritance, clinical examples -- Autosomal recessive inheritance, principles -- Consanguinity and major disabling autosomal recessive conditions -- Autosomal recessive inheritance, life-threatening conditions -- Aspects of dominance -- X-linked and Y-linked inheritance -- X-linked inheritance, clinical examples -- Mitochondrial inheritance -- Risk assessment in Mendelian conditions -- The cell --The chromosomes -- The cell cycle -- Biochemistry of the cell cycle -- Gametogenesis -- DNA structure -- DNA replication -- The structure of genes -- Production of messenger RNA -- Non-coding RNA -- Protein synthesis -- Types of genetic alterations -- Mutagenesis and DNA repair -- Genomic imprinting -- Dynamic mutation -- Normal polymorphism -- Allele frequency -- Genetic linkage and genetic association -- Physical gene mapping -- Gene identification -- Clinical application of linkage and association -- Chromosome analysis -- Autosomal aneuploidies -- Sex chromosome aneuploidies -- Chromosome structural abnormalities -- Chromosome structural abnormalities, clinical examples -- Contiguous-gene and single-gene syndromes -- Human embryology in outline -- Body patterning -- Sexual differentiation -- Abnormalities of sex determination -- Congenital abnormalities, pre-embryonic, embryonic and of intrinsic causation -- Congenital abnormalities arising at the fetal stage -- Development of the heart -- Cardiac abnormalities -- Facial development and dysmorphology -- Principles of multifactorial disease -- Multifactorial disease in children -- Common disorders of adult life -- Twin studies -- The signal transduction cascade -- The eight hallmarks of cancer -- Familial cancers -- Genomic approaches to cancer management -- Disorders of amino acid metabolism -- Disorders of carbohydrate metabolism -- Metal transport, lipid metabolism and amino acid catabolism defects -- Disorders of porphyrin and purine metabolism and the urea/ornithine cycle -- Lysosomal, glycogen storage and peroxisomal diseases -- Biochemical diagnosis -- Immunogenetics, cellular and molecular aspects -- Genetic disorders of the immune system -- Autoimmunity, HLA and transplantation -- DNA hybridization-based analysis systems -- DNA sequencing -- The polymerase chain reaction -- DNA profiling -- Reproductive genetic counselling -- Prenatal sampling -- Avoidance and prevention of disease -- Management of genetic disease -- Ethical and social issues in clinical genetics -- The human karyotype
Summary "This book covers the core scientific principles necessary for an understanding of medical genetics and its clinical applications, while also considering the social implications of genetic disorders. This third edition has been fully updated to include the latest developments in the field, covering the most common genetic anomalies, their diagnosis and management, in clear, concise and revision-friendly sections to complement any health science course." -- Publisher
Notes Previous edition: Oxford : Blackwell, 2008
Bibliography Includes bibliographical references (pages 220-221) and index
Notes Also available online
Print version record
Subject Developmental biology.
Genetic disorders -- Textbooks.
Genetic disorders.
Medical genetics -- Textbooks.
Medical genetics.
Genetic Diseases, Inborn.
Chromosome Aberrations.
Genetic Testing.
Genetics, Medical.
Reading List HME911 recommended text 2020
HME911 prescribed text 2019
HME912 prescribed text 2019
HME921 prescribed text 2019
HME101 prescribed text 2018
HME201 prescribed text 2018
HME202 prescribed text 2018
Genre/Form Textbooks.
Author Korf, Bruce R., author
LC no. 2013007103
ISBN 9780470656549 (paperback)