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|b eng
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|d OCLCO
|d OCLCF
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|a 9780128041987
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|a 0128041986
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|a (OCoLC)1011197368
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|a RC930.4
|b .G464 2018
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|a 616.71042
|2 23
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|a UAMI
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|a Thakker, Rajesh V.
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|a Genetics of Bone Biology and Skeletal Disease.
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|a 2nd ed.
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| 260 |
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|a Saint Louis :
|b Elsevier Science,
|c 2017.
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| 300 |
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|a 1 online resource (880 pages)
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| 336 |
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|a text
|b txt
|2 rdacontent
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|a computer
|b c
|2 rdamedia
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|a online resource
|b cr
|2 rdacarrier
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|a Print version record.
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|a 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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|a 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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| 505 |
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|a 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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|a 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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|a 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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| 504 |
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|a ""References""
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| 590 |
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|a ProQuest Ebook Central
|b Ebook Central Academic Complete
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| 650 |
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0 |
|a Bones
|x Diseases
|x Genetic aspects.
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| 650 |
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6 |
|a Os
|x Maladies
|x Aspect génétique.
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| 650 |
|
7 |
|a Bones
|x Diseases
|x Genetic aspects
|2 fast
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| 700 |
1 |
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|a Whyte, Michael P.
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| 700 |
1 |
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|a Eisman, John.
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| 700 |
1 |
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|a Igarashi, Takashi.
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| 758 |
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|i has work:
|a Genetics of bone biology and skeletal disease (Text)
|1 https://id.oclc.org/worldcat/entity/E39PCGQM4HGGvkcYKRMGbDHY8y
|4 https://id.oclc.org/worldcat/ontology/hasWork
|
| 776 |
0 |
8 |
|i Print version:
|a Thakker, Rajesh V.
|t Genetics of Bone Biology and Skeletal Disease.
|d Saint Louis : Elsevier Science, ©2017
|z 9780128041826
|
| 856 |
4 |
0 |
|u https://ebookcentral.uam.elogim.com/lib/uam-ebooks/detail.action?docID=5118537
|z Texto completo
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|a ProQuest Ebook Central
|b EBLB
|n EBL5118537
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|a 92
|b IZTAP
|
