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Essential Medical Genetics, Includes Desktop Edition

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ISBN-10: 1405169745

ISBN-13: 9781405169745

Edition: 6th 2011

Authors: Edward S. Tobias, Michael Connor, Malcolm Ferguson-Smith

List price: $74.95
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Book details

List price: $74.95
Edition: 6th
Copyright year: 2011
Publisher: John Wiley & Sons, Incorporated
Publication date: 3/21/2011
Binding: Paperback
Pages: 344
Size: 8.70" wide x 10.95" long x 0.70" tall
Weight: 2.376
Language: English

#60;b#62;Ed Tobias#60;/b#62;, Senior Clinical Research Fellow and Honorary Consultant, Yorkhill Hospital Glasgow and Glasgow Medical School#60;p#62;#60;b#62;Mike Connor#60;/b#62;, Head of Clinical Genetics, Yorkhill Hospital and Glasgow Medical School#60;p#62;#60;b#62;Malcolm Ferguson-Smith#60;/b#62;, FRS, Director, Cambridge Resource Centre for Comparative Genetics, University of Cambridge

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Basic principles
Medical genetics in perspective
Scientific basis of medical genetics
Clinical applications of medical genetics
The human genome
Structure and organisation of the genome
Gene identification
Th e Human Genome Project
Nucleic acid structure and function
Nucleic acid structure
Nucleic acid function
Gene regulation
DNA replication
Mutation types, eff ects and nomenclature
DNA analysis
Basic methods
Mutation detection
Indirect mutant gene tracking
Analysis of DNA length polymorphisms
Analysis of single-nucleotide polymorphisms
Chromosome structure
Chromosome analysis
Chromosome heteromorphisms
Chromosomes in other species
Mitochondrial chromosomes
X-inactivation and dosage compensation
Sex chromosome aberrations
Sex determination and differentiation
Genomic imprinting (parental imprinting)
Chromosome aberrations
Numerical aberrations
Structural aberrations
Cytogenetic and molecular methods for the detection of chromosomal aberrations
Identification of the chromosomal origin of complex structural rearrangements
Other aberrations
Typical Mendelian inheritance
Introduction to autosomal single-gene inheritance
Autosomal dominant inheritance
Autosomal recessive inheritance
Introduction to sex-linked inheritance
X-linked recessive inheritance
X-linked dominant inheritance
Y-linked inheritance (holandric inheritance)
Atypical Mendelian inheritance
Genetic anticipation
Pseudoautosomal inheritance
Autosomal dominant inheritance with sex limitation
Pseudodominant inheritance
X-linked dominant inheritance with male lethality
Modifi er genes and digenic inheritance
Uniparental disomy
Imprinting disorders
Non-Mendelian inheritance
Multifactorial disorders
Somatic cell genetic disorders
Mitochondrial disorders
Medical genetics in populations
Selection for single-gene disorders
Founder effect and genetic drift for single-gene disorders
Altered mutation rate for single-gene disorders
Linkage analysis and the International Hapmap Project
Human population evolution and migration
Clinical applications
Genetic assessment, genetic counselling and reproductive options
Communication of advice
Special points in counselling
Prenatal diagnosis
Chorionic villus sampling
Cordocentesis, fetal skin biopsy and fetal liver biopsy
Fetal cells in the maternal circulation
Free fetal DNA and RNA detection
Preimplantation genetic diagnosis
Family history of cancer
General principles
Tumour suppressor genes
Genes involved in DNA repair mechanisms
Other cancer-related genes
Genetic counselling aspects of cancer
Common familial cancer predisposition syndromes
Family history of common adult-onset disorder
General principles
Diabetes mellitus: common and monogenic forms
Dementia: Alzheimer disease, Huntington disease, prion diseases and other causes
Strong family history � typical Mendelian disease
Cystic fibrosis
Duchenne and Becker muscular dystrophies
Neurofi bromatosis type 1
Strong family history � other inheritance mechanisms
Screening for disease and for carriers
Family history of one or more congenital malformations
Electronic databases � a user's guide
Electronic databases � a user's guide
Odds, probabilities and applications of Bayes� theorem
Calculation of the coeffi cients of relationship and inbreeding
Population genetics of single-gene disorders
Legal aspects