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Handbook of clinical adult genetics and genomics : a practice-based approach /
Handbook of Clinical Adult Genetics and Genomics: A Practice-Based Approach provides a thorough overview of genetic disorders that are commonly encountered in adult populations and supports the full translation of adult genetic and genomic modalities into clinical practice. Expert chapter authors su...
| Clasificación: | Libro Electrónico |
|---|---|
| Otros Autores: | , , , |
| Formato: | Electrónico eBook |
| Idioma: | Inglés |
| Publicado: |
London, United Kingdom :
Academic Press,
[2020]
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| Temas: | |
| Acceso en línea: | Texto completo |
MARC
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| 245 | 0 | 0 | |a Handbook of clinical adult genetics and genomics : |b a practice-based approach / |c edited by Shweta U. Dhar, Sandesh C.S. Nagamani and Tanya N. Eble. |
| 264 | 1 | |a London, United Kingdom : |b Academic Press, |c [2020] | |
| 264 | 4 | |c �2020 | |
| 300 | |a 1 online resource (504 pages) : |b color illustrations | ||
| 336 | |a text |b txt |2 rdacontent | ||
| 337 | |a computer |b c |2 rdamedia | ||
| 338 | |a online resource |b cr |2 rdacarrier | ||
| 504 | |a Includes bibliographical references and index | ||
| 505 | 0 | |a Front Cover -- Handbook of Clinical Adult Genetics and Genomics: A Practice-Based Approach -- Copyright Page -- Contents -- List of contributors -- Foreword -- Preface -- I. The Practice of Adult Genetics -- 1 Introduction to the practice of adult genetics -- Overview of the field of adult genetics -- Why is it necessary to learn more about this? -- How are we teaching our medical students? -- How are we training our genetics residents? -- Who will impart genetic care to adult patients? -- Why do we need a book like this? -- References -- 2 Basic concepts of genetics and genomics | |
| 505 | 8 | |a Introduction -- Functional elements of the human genome -- Molecular architecture of DNA -- Nuclear and mitochondrial genomes -- Gene structure -- Human genomic variation -- Types of genetic and genomic variants -- Single-nucleotide variant -- Indel variants -- Large SVs -- Chromosomal variation -- Impact of genetic and genomic variation -- Modes of inheritance -- Autosomal Dominant (AD) -- Autosomal Recessive (AR) -- X-linked (XL) -- Mitochondrial -- Imprinting -- Digenic -- Complex inheritance -- Special considerations -- Dual molecular diagnoses -- Mutational burden -- Incomplete penetrance | |
| 505 | 8 | |a Relevance to clinical care -- References -- 3 Genetic evaluation of an adult -- Introduction -- Approach to the patient -- Phenome-first approach -- Genome-first approach -- Understanding the family context -- How to apply diagnostic DNA technologies -- Clinical cytogenetics and chromosomal analysis -- DNA sequencing -- Choosing the right test -- Understanding the genetic and genomic contribution to disease -- Monogenic disease -- Polygenic disease -- Follow-up and management -- References -- 4 Genetic counseling for adults -- Introduction -- Finding healthcare providers with genetics expertise | |
| 505 | 8 | |a Resources for patients and clinicians -- Principles of genetic counseling in the evaluation of adults -- Vignette 4.1 -- Contracting -- Approaches to history taking -- Personal history-special considerations in adults -- Elements of a pedigree -- Incomplete family history information -- Vignette 4.1 (contd.) -- Patient education and counseling -- Unique considerations for genetics evaluation and testing in adults -- Testing coordination -- Case management for adults -- References -- 5 Genetic testing in adults -- Introduction -- Basic principles and practical approach to genetic testing in adults | |
| 505 | 8 | |a Cytogenetic testing -- Karyotyping -- Fluorescence in situ hybridization -- Chromosomal microarray -- Sequencing tests -- Single-gene testing -- Panel testing -- Exome sequencing -- Other tests -- Variant interpretation -- Genome sequencing -- Direct-to-consumer testing -- Clinical vignettes -- Vignette 5.1 -- Vignette 5.2 -- Vignette 5.3 -- Vignette 5.4 -- References -- 6 Transitioning to adult care -- Introduction -- Vignette 6.1 -- Psychosocial considerations -- Vignette 6.2 -- Education and employment -- Health insurance -- Medical decision-making and guardianship -- Vignette 6.3 | |
| 520 | |a Handbook of Clinical Adult Genetics and Genomics: A Practice-Based Approach provides a thorough overview of genetic disorders that are commonly encountered in adult populations and supports the full translation of adult genetic and genomic modalities into clinical practice. Expert chapter authors supplement foundational knowledge with case-based strategies for the evaluation and management of genetic disorders in each organ system and specialty area. Topics discussed include employing genetic testing technologies, reporting test results, genetic counseling for adult patients, medical genetics referrals, issues of complex inheritance, gene therapy, and diagnostic and treatment criteria for developmental, cardiovascular, gastrointestinal, neuropsychiatric, pulmonary issues, and much more. Employs clinical case studies to demonstrate how to evaluate, diagnosis and treat adult patients with genetic disorders Offers a practical framework for establishing an adult genetics clinic, addressing infrastructure, billing, counseling, and challenges unique to adult clinical genetics Features chapter contributions from authors at leading adult genetics institutions in the US and abroad -- |c provider's description | ||
| 588 | 0 | |a Online resource; title from PDF title page (ProQuest Ebook Central, viewed August 28, 2020) | |
| 650 | 0 | |a Medical genetics |v Handbooks, manuals, etc. | |
| 650 | 0 | |a Medical genetics. | |
| 650 | 1 | 2 | |a Genetics, Medical |0 (DNLM)D005826 |
| 650 | 6 | |a G�en�etique m�edicale |0 (CaQQLa)201-0001432 |v Guides, manuels, etc. |0 (CaQQLa)201-0377046 | |
| 650 | 6 | |a G�en�etique m�edicale. |0 (CaQQLa)201-0001432 | |
| 650 | 7 | |a Medical genetics |2 fast |0 (OCoLC)fst01014133 | |
| 655 | 2 | |a Handbook |0 (DNLM)D020479 | |
| 655 | 7 | |a handbooks. |2 aat |0 (CStmoGRI)aatgf300311807 | |
| 655 | 7 | |a Handbooks and manuals |2 fast |0 (OCoLC)fst01423877 | |
| 655 | 7 | |a Handbooks and manuals. |2 lcgft | |
| 655 | 7 | |a Guides et manuels. |2 rvmgf |0 (CaQQLa)RVMGF-000001065 | |
| 700 | 1 | |a Dhar, Shweta U., |e editor | |
| 700 | 1 | |a Nagamani, Sandesh C. S., |e editor | |
| 700 | 1 | |a Eble, Tanya N., |e editor | |
| 700 | 1 | |a Beaudet, Arthur L., |e writer of foreword. | |
| 776 | 0 | 8 | |i Print version: |t Handbook of clinical adult genetics and genomics. |d London ; San Diego, CA : Academic Press, [2020] |z 9780128173442 |w (OCoLC)1104067300 |
| 856 | 4 | 0 | |u https://sciencedirect.uam.elogim.com/science/book/9780128173442 |z Texto completo |