Turnpenny Peter D
Elements of medical genetics (emery's)/
- 13th
- Philadelphia: Churchill livingstone (elsevier), 2007.
- 423p.
9780702029172
principles of human genetics,Gregor Mendel and the laws of inheritance, DNA basis of inheritance,fruit fly,origins of medical genetics, impact of genetic disease, regulation of gene expression , RNA-directed DNA synthesis, mutations, mutagenesis, methods of chromosome analysis, molecular cytogenetics, chromosome nomenclature, gametogenesis, chromosome abnormalities, techniques of DNA analysis, biological hazards of DNA technology, positional cloning, human genome project, developmental genetics, fertilization and gastrulation, hydatidiform moles, epigenetics and development, twinning, patterns of inheritance, Mendelian inheritance, mosaicism, genomic imprinting, mitochondrial inheritance,allele frequencies in populations, genetic polymorphism, segregation analysis, genetic linkage, polygenic and multifactorial inheritance, heritability, hemoglobin and hemoglobinopathies, structure of hemoglobin,developmental expression of hemoglobin, globin chain structure, disorders of hemoglobin, clinical variation of hemoglobinopathies, biochemical genetics, inborn errors of metabolism, urea cycle disorders, disorders of lipid metabolism, organic-acid disorders, peroxisomal disorders, pharmacogenetics, drug metabolism, ecogenetics, immunogenetics, innate immunity, specific acquired immunity, inherited immunodeficiency disorders, cancer genetics, oncogenes, tumor suppressor genes, epigenetics and cancer, genetics of common cancers, genetic counseling in familial cancer, Crohn disease, hemochromatosis, venous thrombosis, atopic diseases, age-related macular degeneration,malformation of unknown cause, genetic counseling, outcomes in genetic counseling, chromosome disorders, chromosomal breakage syndromes, indications for chromosomal analysis, single-gene disorders, Huntington disease,myotonic dystrophy, neurofibromatosis, Marfan syndrome, cystic fibrosis, cardiomyopathies, Duchenne muscular dystrophy,hemophilia, population screening, criteria for screenig program, neonatal screening,genetic registers, prenatal screening, prenatal treatment, risk calculation, autosomal recessive inheritance, autosomal dominant inheritance, Bayes'theorem, empiric risks, gene therapy, ethica dilemmas,ethical and legal issues in medical genetics
616.042 / TUR/EL