عنوان
پدید آورنده
موضوع
رده
RB155
RB155
کتابخانه
محل استقرار
INTERNATIONAL STANDARD BOOK NUMBER
(Number (ISBN
1118689011
(Number (ISBN
111868902X
(Number (ISBN
9781118689011
(Number (ISBN
9781118689028
Erroneous ISBN
0470656549
Erroneous ISBN
1118689003
Erroneous ISBN
9780470656549
Erroneous ISBN
9781118689004
TITLE AND STATEMENT OF RESPONSIBILITY
Title Proper
Medical genetics at a glance /
General Material Designation
[Book]
First Statement of Responsibility
Dorian J. Pritchard, Bruce R. Korf.
EDITION STATEMENT
Edition Statement
3rd ed.
.PUBLICATION, DISTRIBUTION, ETC
Place of Publication, Distribution, etc.
Chichester, West Sussex :
Name of Publisher, Distributor, etc.
John Wiley & Sons,
Date of Publication, Distribution, etc.
2013.
PHYSICAL DESCRIPTION
Specific Material Designation and Extent of Item
1 online resource
SERIES
Series Title
At a glance series
INTERNAL BIBLIOGRAPHIES/INDEXES NOTE
Text of Note
Includes bibliographical references and index.
CONTENTS NOTE
Text of 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.
Text of Note
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).
Text of Note
ExampleThe 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.
Text of Note
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).
Text of Note
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.
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SUMMARY OR ABSTRACT
Text of Note
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 mo.
ACQUISITION INFORMATION NOTE
Source for Acquisition/Subscription Address
OverDrive, Inc.
Stock Number
2E74B934-D597-4B38-8E27-446D8565CA09
OTHER EDITION IN ANOTHER MEDIUM
Title
Medical genetics at a glance.
International Standard Book Number
9780470656549
TOPICAL NAME USED AS SUBJECT
Developmental biology.
Genetics.
Medical genetics.
Chromosome Aberrations.
Genetic Diseases, Inborn.
Genetic Testing.
Genetics, Medical.
Developmental biology.
Genetics.
HEALTH & FITNESS-- Diseases-- Genetic.
Medical genetics.
MEDICAL-- Genetics.
(SUBJECT CATEGORY (Provisional
HEA-- 039060
MED-- 107000
DEWEY DECIMAL CLASSIFICATION
Number
616/
.
042
Edition
23
LIBRARY OF CONGRESS CLASSIFICATION
Class number
RB155
OTHER CLASS NUMBERS
Class number
QZ
50
PERSONAL NAME - PRIMARY RESPONSIBILITY
Pritchard, D. J., (Dorian J.)
PERSONAL NAME - ALTERNATIVE RESPONSIBILITY
Korf, Bruce R.
ORIGINATING SOURCE
Date of Transaction
20200822113837.0
Cataloguing Rules (Descriptive Conventions))
pn
ELECTRONIC LOCATION AND ACCESS
Electronic name
مطالعه متن کتاب [Book]
Y
