000			02882cam a2200229 4500
001			9780128008928
008			220107t2016 xxu||||| |||| 00| 0 eng d
020			_a9780128008928
020			_a9780128008928
041			_aeng
100			_aWeiss, Roy E.
245		0	_aGenetic diagnosis of endocrine disorders
250			_a2nd ed.
260			_aLondon : _bAcademic Press, _c2016
300			_a1 online resource (xv, 433 pages):illustrations (some color)
505			_aMechanisms 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.
520			_aGenetic 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.
690			_aEndocrine glands _96048
700			_aRefetoff, Samuel
856			_uhttps://go.openathens.net/redirector/nhs?url=https://www.clinicalkey.com/dura/browse/bookChapter/3-s2.0-C20130144558
999			_c58761 _d58761