| Description |
1 online resource (880 pages) |
| Contents |
Cover -- Title page -- Copyright page -- Contents -- List of Contributors -- Preface to the Second Edition -- Preface to the First Edition -- Section 1 -- General Background to Genetics -- Chapter 1 -- Introduction to Genetics of Skeletal and Mineral Metabolic Diseases -- 1 -- Introduction -- 2 -- Genetics of skeletal and mineral metabolic diseases -- 2.1 -- Modes of Inheritance -- 2.2 -- Genetic Heterogeneity and Monogenic Skeletal Diseases -- 2.3 -- Identifying Genetic Abnormalities Causing Monogenic Diseases -- 2.4 -- Identifying Genes Causing Polygenic Traits |
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2.5 -- Molecular Insights From the Investigation of Monogenic Disorders and Polygenic Traits2.6 -- Genetic Understanding and Application to Development of Novel Therapeutics -- 3 -- Approach to the patient with genetic skeletal/mineral metabolic disease -- 3.1 -- Clinical Approach -- 3.2 -- Medical History and Physical Examination -- 3.3 -- Family Medical History for Determining Mode of Disease Inheritance -- 4 -- Current genetic tests, their clinical utility, and interpretation -- 4.1 -- Clinical Value of Genetic Testing -- 4.2 -- Pretest Considerationsâ#x80;#x94;Which Test? |
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4.3 -- Detection of Chromosomal Abnormalities, Copy Number Variations, and Mutations Causing Disease4.3.1 -- Karyotype -- 4.3.2 -- Fluorescence In Situ Hybridization (FISH) -- 4.3.3 -- Multiplex-Ligation Dependent Probe Amplification (MLPA) -- 4.3.4 -- Whole Genome Arrays -- 4.3.5 -- Microarray-Comparative Genomic Hybridization (aCGH) -- 4.3.6 -- Single Nucleotide Polymorphism Arrays -- 4.3.7 -- Single Gene Testing (Sanger Sequencing) -- 4.3.8 -- Next-Generation Sequencing or Second-Generation Sequencing |
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4.4 -- Challenges of Data Interpretation and Approaches to the Analysis of Variants Identified by NGS Platforms4.4.1 -- Variant Identification -- 4.4.2 -- Variant Interpretation -- 4.5 -- Special Circumstances for Genetic Testing -- 4.5.1 -- Detection of Mosaicism -- 4.5.2 -- Prenatal Diagnosis -- 4.6 -- Informed Consent and Ethical Considerations -- 5 -- Conclusions -- References -- Chapter 2 -- Epigenetics -- 1 -- Introduction -- 2 -- Epigenetic control mechanisms -- 2.1 -- Histone Modifications and Chromatin Remodeling -- 2.2 -- Histone Variants |
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2.3 -- DNA Methylation2.4 -- Noncoding RNAs (ncRNAs) -- 3 -- Transgenerational epigenetic inheritance -- 4 -- Epigenetics and human disease -- 4.1 -- Imprinting Disorders -- 4.2 -- Cancer -- 4.3 -- Other Diseases -- 4.4 -- Epigenetic Therapy -- 5 -- Conclusions -- References -- Chapter 3 -- Genome-Wide Association Studies -- 1 -- Introduction -- 2 -- Linkage disequilibrium mapping -- 3 -- Study design issues in genome-wide association studies -- 3.1 -- Quality Control -- 4 -- The â#x80;#x9C;missing heritabilityâ#x80;#x9D; question -- 5 -- Rare variant study designs -- 6 -- Conclusions |
| Bibliography |
""References"" |
| Notes |
Print version record |
| Subject |
Bones -- Diseases -- Genetic aspects.
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Bones -- Diseases -- Genetic aspects.
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| Form |
Electronic book
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| Author |
Whyte, Michael P
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Eisman, John
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Igarashi, Takashi
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| ISBN |
9780128041987 |
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0128041986 |
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