000 03358fam a2200361 a 4500
001 4016705
003 OSt
005 20170822174959.0
008 940523s1995 moua b 001 0 eng c
010 _a 94013013
020 _a0801664144
035 _a(OCoLC)30624793
035 _a(OCoLC)ocm30624793
035 _a(NNC)4016705
040 _aDNLM/DLC
_cBSU
_dDLC
_dNNC-M
050 0 0 _aRB155
_b.J67 1995
060 1 0 _aQZ 50 J82m 1995
082 0 0 _a616.042 JOR
_222
100 1 _aJorde, Lynn B.
_915670
245 1 0 _aMedical genetics /
_cLynn B. Jorde, John C. Carey, Raymond L. White.
260 _aSt. Louis :
_bMosby,
_cc1995.
300 _ax, 293 p. :
_bill. ;
_c28 cm.
504 _aIncludes bibliographical references and index.
505 0 _a1. Introduction. What is Medical Genetics? Why is a Knowledge of Medical Genetics Important for Today's Practicing Physician? A Brief History. Types of Genetic Diseases. Clinical Impact of Genetic Disease -- 2. Basic Cell Biology: Structure and Function of Genes and Chromosomes. DNA, RNA, and Proteins: Heredity at the Molecular Level. The Structure of Genes and the Genome. The Cell Cycle -- 3. Genetic Variation: Its Origin and Detection. Mutation: The Source of Genetic Variation. Detection and Measurement of Genetic Variation -- 4. Autosomal Dominant and Recessive Inheritance. Basic Concepts of Formal Genetics. Autosomal Dominant Inheritance. Autosomal Recessive Inheritance. Factors that may Complicate Inheritance Patterns. Consanguinity in Human Populations -- 5. Sex-Linked and Mitochondrial Inheritance. X Inactivation. Sex-Linked Inheritance. Sex-Limited and Sex-Influenced Traits. Mitochondrial Inheritance -- 6. Clinical Cytogenetics: The Chromosomal Basis of Human Disease.
505 0 _aCytogenetic Technology and Nomenclature. Abnormalities of Chromosome Number. Chromosome Abnormalities and Pregnancy Loss. Abnormalities of Chromosome Structure. Chromosome Abnormalities and Clinical Phenotypes. Cancer Cytogenetics. Chromosome Instability Syndromes -- 7. Gene Mapping. Genetic Mapping. Physical Mapping. Progress Toward a Complete Human Map -- 8. Immunogenetics. The Immune Response: Basic Concepts. Immune Response Proteins: Genetic Basis of Structure and Diversity. The Major Histocompatibility Complex. The ABO and Rh Blood Groups. Immunodeficiency Diseases -- 9. Cancer Genetics. Causes of Cancer. Inherited Cancer Genes. Identification of Inherited Cancer Genes. Molecular Basis of Cancer. Is Genetic Inheritance Important in Common Cancers? -- 10. Multifactorial Inheritance and Common Disease. Principles of Multifactorial Inheritance. Nature and Nurture: Disentangling the Effects of Genes and Environment. The Genetics of Common Diseases.
505 0 _a11. Genetic Screening, Genetic Diagnosis, and Gene Therapy. Population Screening for Genetic Disease. Molecular Tools for Screening and Diagnosis. Prenatal Diagnosis of Genetic Disorders and Congenital Defects. Fetal Treatment. Gene Therapy -- 12. Clinical Genetics and Genetic Counseling. The Principles and Practices of Clinical Genetics. Dysmorphology and Clinical Teratology.
650 0 _aMedical genetics.
_915671
650 2 _aGenetic Diseases, Inborn
_xgenetics.
_915672
700 1 _aCarey, John C.,
_d1946-
_915673
700 1 _aWhite, Raymond L.,
_d1943-
_915674
942 _2ddc
_cBK
999 _c7268
_d7268