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Descripción

Known for its up-to-date coverage of both basic science and clinical application, Medical Genetics and Genomics, 7th Edition, has been fully revised to reflect recent advances in the genetics of common diseases, as well as current progress in genetic testing and gene therapy. This accessible, practical text integrates key concepts with clinical practice, highlighted by numerous illustrations, tables, concept summaries, and more—all designed to enhance effective learning and retention of complex material.

  • Discusses topical issues such as polygenic scores and their potential uses in the diagnosis and treatment of diseases such as diabetes, cancer, and heart disease, along with the latest advancements in sequencing technologies and their role in genetic testing and diagnosis.
  • Provides an up-to-date discourse on the modes and applications of genetic testing.
  • Contains useful concept summaries, more than 230 photographs, illustrations, and tables, as well as patient/family vignettes that present valuable perspectives on disease and treatment.
  • Features a larger quantity of Clinical Commentary boxes that demonstrate how the hard science of genetics has real applications to everyday patient problems, preparing you for problem-based integrated courses.
  • Uses examples of diseases to illustrate important concepts, demonstrating their relevance to medicine.
  • Study questions for self-assessment are provided within the print book, as well as 200 additional USMLE-style questions online.

1. Cover image - p. c 2. Title page - p. iii 3. Copyright - p. iv 4. Dedication - p. v 5. Preface - p. vi 6. Acknowledgments - p. vii 7. Contents - p. viii 8. 1 Background and History - p. 1 9. 2 Basic Cell Biology - p. 5 10. 3 Genetic Variation: - p. 25 11. 4 Autosomal Dominant and Recessive Inheritance - p. 53 12. 5 Sex-Linked and Nontraditional Modes of Inheritance - p. 71 13. 6 Clinical Cytogenetics - p. 94 14. 7 Biochemical Genetics: - p. 122 15. 8 Disease-Gene Identification - p. 142 16. 9 Immunogenetics - p. 165 17. 10 Genetic Basis of Development - p. 180 18. 11 Cancer Genetics - p. 200 19. 12 Multifactorial Inheritance and Common Diseases - p. 220 20. 13 Genetic Testing and Gene Therapy - p. 244 21. 14 Genetics and Precision Medicine - p. 270 22. 15 Clinical Genetics and Genetic Counseling - p. 278 23. Glossary - p. 303 24. Answers to Study Questions - p. 319 25. Index - p. 329

Descripcion
Descripción

Known for its up-to-date coverage of both basic science and clinical application, Medical Genetics and Genomics, 7th Edition, has been fully revised to reflect recent advances in the genetics of common diseases, as well as current progress in genetic testing and gene therapy. This accessible, practical text integrates key concepts with clinical practice, highlighted by numerous illustrations, tables, concept summaries, and more—all designed to enhance effective learning and retention of complex material.

  • Discusses topical issues such as polygenic scores and their potential uses in the diagnosis and treatment of diseases such as diabetes, cancer, and heart disease, along with the latest advancements in sequencing technologies and their role in genetic testing and diagnosis.
  • Provides an up-to-date discourse on the modes and applications of genetic testing.
  • Contains useful concept summaries, more than 230 photographs, illustrations, and tables, as well as patient/family vignettes that present valuable perspectives on disease and treatment.
  • Features a larger quantity of Clinical Commentary boxes that demonstrate how the hard science of genetics has real applications to everyday patient problems, preparing you for problem-based integrated courses.
  • Uses examples of diseases to illustrate important concepts, demonstrating their relevance to medicine.
  • Study questions for self-assessment are provided within the print book, as well as 200 additional USMLE-style questions online.

1. Cover image - p. c 2. Title page - p. iii 3. Copyright - p. iv 4. Dedication - p. v 5. Preface - p. vi 6. Acknowledgments - p. vii 7. Contents - p. viii 8. 1 Background and History - p. 1 9. 2 Basic Cell Biology - p. 5 10. 3 Genetic Variation: - p. 25 11. 4 Autosomal Dominant and Recessive Inheritance - p. 53 12. 5 Sex-Linked and Nontraditional Modes of Inheritance - p. 71 13. 6 Clinical Cytogenetics - p. 94 14. 7 Biochemical Genetics: - p. 122 15. 8 Disease-Gene Identification - p. 142 16. 9 Immunogenetics - p. 165 17. 10 Genetic Basis of Development - p. 180 18. 11 Cancer Genetics - p. 200 19. 12 Multifactorial Inheritance and Common Diseases - p. 220 20. 13 Genetic Testing and Gene Therapy - p. 244 21. 14 Genetics and Precision Medicine - p. 270 22. 15 Clinical Genetics and Genetic Counseling - p. 278 23. Glossary - p. 303 24. Answers to Study Questions - p. 319 25. Index - p. 329

Indice
Autores
Muestra
Ficha Técnica