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Medical genetics at a glance (Record no. 85286)

MARC details
000 -LEADER
fixed length control field 04851cam a2200241 4500
001 - CONTROL NUMBER
control field 111868902X
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 150623t2013 xxu||||| |||| 00| 0 eng d
020 ## - INTERNATIONAL STANDARD BOOK NUMBER
International Standard Book Number 111868902X
100 ## - MAIN ENTRY--PERSONAL NAME
Personal name Pritchard, Dorian J.
245 #0 - TITLE STATEMENT
Title Medical genetics at a glance
Medium [E-Book]
250 ## - EDITION STATEMENT
Edition statement 3rd ed.
260 ## - PUBLICATION, DISTRIBUTION, ETC. (IMPRINT)
Place of publication, distribution, etc. Chichester
Name of publisher, distributor, etc. Wiley
Date of publication, distribution, etc. 2013
300 ## - PHYSICAL DESCRIPTION
Extent 233 p.
490 ## - SERIES STATEMENT
Series statement At a glance
505 ## - FORMATTED CONTENTS NOTE
Formatted contents note Cover; Title page; Copyright page; Contents; Preface to the first edition; Preface to the third edition; Acknowledgements; List of abbreviations; Part 1 : Overview; 1: The place of genetics in medicine; The case for genetics; Genes in development; Genotype and phenotype; Genetics in medicine; The application of genetics; Part 2 : The Mendelian approach; 2: Pedigree drawing; Overview; The medical history; Rules for pedigree diagrams; The practical approach; Use of pedigrees; 3: Mendel's laws; Overview; The principle of unit inheritance; The principle of dominance; The principle of segregation; Example The principle of independent assortment; Example; The test-mating; Matings between double heterozygotes; Biological support for Mendel's laws; Exceptions to Mendel's laws; 1. Sex-related effects; 2. Mitochondrial inheritance; 3. Genetic linkage; 4. Polygenic conditions; 5. Overdominance, codominance, variable expressivity and incomplete penetrance; 6. Genomic imprinting; 7. Dynamic mutation; 8. Meiotic drive; Conclusion; 4: Principles of autosomal dominant inheritance and pharmacogenetics; Overview; Rules for autosomal dominant inheritance; Example; Estimation of risk; Estimation of mutation ratePharmacogenetics; Debrisoquine hydroxylase deficiency (AR); Porphyria variegata (AD); G6PD deficiency (X-linked R) (see Chapter 11); N-acetyl transferase deficiency (AR); Pseudocholinesterase deficiency (AR); Halothane sensitivity, malignant hyperthermia (genetically heterogeneous); Thiopurine methyltransferase deficiency (ACo-D); 5: Autosomal dominant inheritance, clinical examples; Overview; Disorders of the fibroblast growth factor receptors; Achondroplasia; Marfan syndrome (MFS); Familial hypercholesterolaemia (FH); Dentinogenesis imperfecta 1 (DGI); Otosclerosis 1 (OTSC1)Adult polycystic kidney disease (APKD, PKD); Multiple hereditary exostoses (EXT); 6: Autosomal recessive inheritance, principles; Overview; Rules for autosomal recessive inheritance; Example: albinism; Estimation of risk; Example: congenital deafness; 7: Consanguinity and major disabling autosomal recessive conditions; Overview; Management issues; Consanguineous matings; Incestuous matings; Brother-sister matings; Parent-child matings; Risk for offspring; First cousin marriages; Mental handicap; Oculocutaneous albinism; Recessive blindness; Retinitis pigmentosa (RP); Severe congenital deafnessConnexin 26 defects (CX26); Pendred syndrome (PDS); 8: Autosomal recessive inheritance, life-threatening conditions; Overview; Cystic fibrosis (CF); Tay-Sachs disease, GM2 gangliosidosis; Phenylketonuria (PKU); Spinal muscular atrophy (SMA); 9: Aspects of dominance; Overview; Codominance (Co-D), the ABO blood groups; Incomplete dominance, overdominance and heterosis; Incomplete penetrance; Delayed onset; Variable expressivity; Neurofibromatosis type 1 (NF1), Von Recklinghausen disease; 10: X-linked and Y-linked inheritance; Overview; Rules of X-linked recessive inheritance.
520 ## - SUMMARY, ETC.
Summary, etc. Medical Genetics at a Glance 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. Medical Genetics at a Glance now has a completely revised structure, to make its content even more accessible. Other features include Three new chapters on Gene Identification, The Biology of Cancer, and Genomic Approaches to Cancer; A much extended treatment of Biochemical Genetics; A completely revised chapter on The Cell Cycle; explaining principles of biochemistry and genetics which are fundamental to understanding cancer causation; Two new chapters on Cardiac Developmental Pathology; An extended Case Studies section. Providing a broad understanding of one of the most rapidly progressing topics in medicine, Medical Genetics at a Glance is perfect for students of medicine, molecular biology, genetics and genetic counselling, and is a previous winner of a BMA Award"
650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name as entry element GENETIC DISEASES, INBORN
650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name as entry element GENETICS, MEDICAL
650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name as entry element GENETIC TESTING
650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name as entry element CHROMOSOME ABERRATIONS
700 ## - ADDED ENTRY--PERSONAL NAME
Personal name Korf, Bruce R.
856 ## - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="#gotoholdings">#gotoholdings</a>
Link text Access resource
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Withdrawn status Lost status Damaged status Not for loan Home library Current library Shelving location Date acquired Total Checkouts Date last seen Uniform Resource Identifier Price effective from Koha item type Public note
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