Genetic Diagnosis of Endocrine Disorders
eBook - ePub

Genetic Diagnosis of Endocrine Disorders

  1. 472 pages
  2. English
  3. ePUB (mobile friendly)
  4. Available on iOS & Android
eBook - ePub

Genetic Diagnosis of Endocrine Disorders

About this book

Genetic Diagnosis of Endocrine Disorders, Second Edition provides users with a comprehensive reference that is organized by endocrine grouping (i.e., thyroid, pancreas, parathyroid, pituitary, adrenal, and reproductive and bone), discussing the genetic and molecular basis for the diagnosis of various disorders. The book emphasizes the practical nature of diagnosing a disease, including which tests should be done for the diagnosis of diabetes mellitus in adults and children, which genes should be evaluated for subjects with congenital hypothyroidism, which genetic tests should be ordered in obese patients or for those with parathyroid carcinoma, and the rationale behind testing for multiple endocrine neoplasias. - Offers a clear presentations of pharmacogenetics and the actual assays used in detecting endocrine diseases - Teaches the essentials of the genetic basis of disease in each major endocrine organ system - Offers expert advice from genetic counselors on how to use genetic information in counseling patients - Includes new chapters on the genetics of lipid disorders and glycogen storage diseases, genetics of hypoglycemia, and whole genome/exome sequencing

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Information

Publisher
Academic Press
Year
2015
Edition
2
eBook ISBN
9780128011348
Topic
Biological Sciences
Subtopic
Biology
Index
Biological Sciences

Table of contents

  1. Cover
  2. Front matter
  3. Table of Contents
  4. Copyright
  5. List of Contributors
  6. Preface to the First Edition
  7. Preface to the Second Edition
  8. List of Illustrations
  9. List of Tables
  10. Chapter 1 : Mechanisms of Mutation
  11. Chapter 2 : A Clinical Guide to Monogenic Diabetes
  12. Chapter 3 : Hypoglycemia
  13. Chapter 4 : Functioning Pituitary Adenomas
  14. Chapter 5 : Diabetes Insipidus
  15. Chapter 6 : States of Pituitary Hypofunction
  16. Chapter 7 : Congenital Defects of Thyroid Hormone Synthesis
  17. Chapter 8 : Developmental Abnormalities of the Thyroid
  18. Chapter 9 : Syndromes of Impaired Sensitivity to Thyroid Hormone
  19. Chapter 10 : Molecular Diagnosis of Thyroid Cancer
  20. Chapter 11 : Genetics of Hyperparathyroidism Including Parathyroid Cancer
  21. Chapter 12 : Genetic Diagnosis of Skeletal Dysplasias
  22. Chapter 13 : Vitamin D Disorders
  23. Chapter 14 : Congenital Adrenal Hyperplasia
  24. Chapter 15 : Genetics of Adrenocortical Tumors (ACT) and Hypersecretory Syndromes
  25. Chapter 16 : Hereditary Syndromes Involving Pheochromocytoma and Paraganglioma
  26. Chapter 17 : Genetic Conditions Associated with Congenital Adrenocortical Insufficiency or Glucocorticoid and/or Mineralocorticoid Resistance
  27. Chapter 18 : Genetic Considerations in the Evaluation of Menstrual Cycle Irregularities
  28. Chapter 19 : Disorders of Sex Development
  29. Chapter 20 : Androgen Insensitivity Due to Mutations of the Androgen Receptor
  30. Chapter 21 : Obesity
  31. Chapter 22 : Syndromes of Severe Insulin Resistance and/or Lipodystrophy
  32. Chapter 23 : Lipodystrophies
  33. Chapter 24 : Multiple Endocrine Neoplasia Type 1 (MEN1)
  34. Chapter 25 : Genetics of Polyglandular Failure
  35. Chapter 26 : Genetic Diagnosis of Growth Failure
  36. Chapter 27 : Cost-Effectiveness of Genetic Testing for Monogenic Diabetes
  37. Chapter 28 : Genetic Counseling: The Role of Genetic Counselors on Healthcare Provider and Endocrinology Teams
  38. Chapter 29 : Setting Up a Laboratory
  39. Chapter 30 : Introduction to Applications of Genomic Sequencing
  40. Index
  41. A

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Yes, you can access Genetic Diagnosis of Endocrine Disorders by Roy E. Weiss,Samuel Refetoff in PDF and/or ePUB format, as well as other popular books in Biological Sciences & Biology. We have over 1.5 million books available in our catalogue for you to explore.