Genetic diagnosis of endocrine disorders /

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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 variou...

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Bibliographic Details
Call Number:Libro Electrónico
Other Authors: Weiss, Roy E. (Editor), Refetoff, Samuel (Editor)
Format: Electronic eBook
Language:Inglés
Published: London : Academic Press is an imprint of Elsevier, [2016]
Edition:Second edition.
Subjects:
Endocrine glands > Diseases > Genetic aspects.
Endocrine glands > Diseases > Diagnosis.
Endocrine glands > Diseases > Treatment.
Genetic screening.
Endocrine System Diseases > genetics
Endocrine System Diseases > diagnosis
Genetic Testing
Molecular Diagnostic Techniques
Glandes endocrines > Maladies > Aspect g�en�etique.
Glandes endocrines > Maladies > Traitement.
D�epistage g�en�etique.
Genetic screening
Endocrine glands > Diseases > Diagnosis
Endocrine glands > Diseases > Genetic aspects
Endocrine glands > Diseases > Treatment
Internet Resources.
Online Access:Texto completo
Table of Contents:
  • Mechanisms of mutation
  • A clinical guide to monogenic diabetes
  • Hypoglycemia
  • Functioning pituitary adenomas
  • Diabetes insipidus
  • States of pituitary hypofunction
  • Congenital defects of thyroid hormone synthesis
  • Developmental abnormalities of the thyroid
  • Syndromes of impaired sensitivity to thyroid hormone
  • Molecular diagnosis of thyroid cancer
  • Genetics of hyperparathyroidism including parathyroid cancer
  • Genetic diagnosis of skeletal dysplasias
  • Vitamin d disorders
  • Congenital adrenal hyperplasia
  • Genetics of adrenocortical tumors (ACT) and hypersecretory syndromes
  • Hereditary syndromes involving pheochromocytoma and paraganglioma
  • Genetic conditions associated with congenital adrenocortical insufficiency or glucocorticoid and/or mineralocorticoid resistance
  • Genetic considerations in the evaluation of menstrual cycle irregularities
  • Disorders of sex development
  • Androgen insensitivity due to mutations of the androgen receptor
  • Obesity
  • Syndromes of severe insulin resistance and/or lipodystrophy
  • Lipodystrophies
  • Multiple endocrine neoplasia type 1 (MEN1)
  • Genetics of polyglandular failure
  • Genetic diagnosis of growth failure
  • Cost-effectiveness of genetic testing for monogenic diabetes
  • Genetic counseling: the role of genetic counselors on healthcare provider and endocrinology teams
  • Setting up a laboratory
  • Introduction to applications of genomic sequencing.

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