The Resource Genetic diagnosis of endocrine disorders, edited by Roy E. Weiss, Samuel Refetoff

Genetic diagnosis of endocrine disorders, edited by Roy E. Weiss, Samuel Refetoff

Label
Genetic diagnosis of endocrine disorders
Title
Genetic diagnosis of endocrine disorders
Statement of responsibility
edited by Roy E. Weiss, Samuel Refetoff
Contributor
Editor
Subject
Language
eng
Summary
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
Related
Cataloging source
OPELS
Dewey number
616.4042
Illustrations
illustrations
Index
no index present
LC call number
RC648
Literary form
non fiction
Nature of contents
  • dictionaries
  • bibliography
Label
Genetic diagnosis of endocrine disorders, edited by Roy E. Weiss, Samuel Refetoff
Publication
Copyright
Note
Revised edition of: Genetic diagnosis of endocrine disorders / edited by Roy E. Weiss, Samuel Refetoff. 1st ed. 2010
Bibliography note
Includes bibliographical references
http://library.link/vocab/branchCode
  • net
Carrier category
online resource
Carrier category code
cr
Carrier MARC source
rdacarrier
Content category
  • still image
  • text
Content type code
  • sti
  • txt
Content type MARC source
  • rdacontent
  • rdacontent
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
Control code
ocn921886444
Dimensions
unknown
Edition
Second edition
Extent
1 online resource (xv, 433 pages)
Form of item
online
Isbn
9780128008928
Media category
computer
Media MARC source
rdamedia
Media type code
c
Other physical details
illustrations (some color)
http://library.link/vocab/recordID
.b34884014
Specific material designation
remote
System control number
  • (OCoLC)921886444
  • clinic012800892X

Library Locations

    • Deakin University Library - Geelong Waurn Ponds CampusBorrow it
      75 Pigdons Road, Waurn Ponds, Victoria, 3216, AU
      -38.195656 144.304955
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