Genetics of Bone Biology and Skeletal Disease.

Detalles Bibliográficos
Clasificación:Libro Electrónico
Autor principal: Thakker, Rajesh V.
Otros Autores: Whyte, Michael P., Eisman, John, Igarashi, Takashi
Formato: Electrónico eBook
Idioma:Inglés
Publicado: Saint Louis : Elsevier Science, 2017.
Edición:2nd ed.
Temas:
Bones > Diseases > Genetic aspects.
Os > Maladies > Aspect génétique.
Bones > Diseases > Genetic aspects
Acceso en línea:Texto completo
Tabla de Contenidos:
  • 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
  • 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?
  • 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
  • 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
  • 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

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