Resistance to Thyroid Hormone: Report of 2 Kindreds with 35 Patients
Tài liệu tham khảo
Albright, 1942, Pseudohypoparathyroidism—an example of Seabright Bantam syndrome, Endocrinology., 30, 922
Hughes, 1988, Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets, Science., 242, 1702, 10.1126/science.2849209
Brown, 1988, Deletion of the steroid-binding domain of the human androgen receptor gene in one family with complete androgen insensitivity syndrome: evidence for further genetic heterogeneity in this syndrome, Proc Natl Acad Sci US A., 85, 8151, 10.1073/pnas.85.21.8151
Ray, 1996, Molecular mechanisms of glucocorticoid resistance, J Endocrinol., 149, 1, 10.1677/joe.0.1490001
Refetoff, 1980, Defective thyroid hormone feedback regulation in the syndrome of peripheral resistance to thyroid hormone, J Clin Endocrinol Metab., 51, 41, 10.1210/jcem-51-1-41
McDermott, 1993, Thyroid hormone resistance syndromes, Am J Med., 94, 424, 10.1016/0002-9343(93)90155-I
Weiss, 1992, Thyroid hormone resistance, Annu Rev Med., 43, 363, 10.1146/annurev.me.43.020192.002051
Hauser, 1993, Attention deficit-hyperactivity disorder in people with generalized resistance to thyroid hormone, N Engl J Med., 328, 997, 10.1056/NEJM199304083281403
Refetoff, 1993, The syndromes of resistance to thyroid hormone, Endocr Rev., 14, 348
Refetoff, 1967, Familial syndrome combining deaf-mutism, stippled epiphyses, goiter and abnormally high PBI: possible target organ refractoriness to thyroid hormone, J Clin Endocrinol Metab., 27, 279, 10.1210/jcem-27-2-279
Refetoff, 1994, Resistance to thyroid hormone: an historical overview, Thyroid., 4, 345, 10.1089/thy.1994.4.345
Brucker-Davis, 1995, Genetic and clinical features of 42 kindreds with resistance to thyroid hormone: the National Institutes of Health Prospective Study, Ann Intern Med., 123, 572, 10.7326/0003-4819-123-8-199510150-00002
Takeda, 1992, Recessive inheritance of thyroid hormone resistance caused by complete deletion of the protein-coding region of thyroid hormone receptor-beta gene, J Clin Endocrinol Metab., 74, 49
Boothroyd, 1991, Single base mutation in the hormone binding domain of the thyroid hormone receptor beta gene in generalized thyroid hormone resistance demonstrated by single stranded conformation polymorphism analysis, Biochem Biophys Res Commun., 178, 606, 10.1016/0006-291X(91)90151-V
Takeda, 1992, Rapid localization of mutations in the thyroid hormone receptor-beta gene by denaturing gradient gel electrophoresis in 18 families with thyroid hormone resistance, J Clin Endocrinol Metab., 74, 712, 10.1210/jcem.74.4.1548332
Refetoff, 1994, Resistance to thyroid hormone in subjects from two unrelated families is associated with a point mutation in the thyroid hormone receptor beta gene resulting in the replacement of normal proline 453 with serine, Thyroid., 4, 249, 10.1089/thy.1994.4.249
Menezes-Ferreira, 1984, Decreased nuclear uptake of [125I]triiodo-L-thyronine in fibroblasts from patients with peripheral thyroid hormone resistance, J Clin Endocrinol Metab., 59, 1081, 10.1210/jcem-59-6-1081
Usala, 1990, Thyroid hormone and DNA binding properties of a mutant C-erbA beta receptor associated with generalized thyroid hormone resistance, Biochem Biophys Res Commun., 171, 575, 10.1016/0006-291X(90)91185-U
Jameson, 1994, Mechanisms by which thyroid hormone receptor mutations cause clinical syndromes of resistance to thyroid hormone, Thyroid., 4, 485, 10.1089/thy.1994.4.485
Usala, 1990, A base mutation of the C-erbA beta thyroid hormone receptor in a kindred with generalized thyroid hormone resistance: molecular heterogeneity in two other kindreds, J Clin Invest., 85, 93, 10.1172/JCI114438
Parrilla, 1991, Characterization of seven novel mutations of the c-erbA beta gene in unrelated kindreds with generalized thyroid hormone resistance: evidence for two “hot spot” regions of the ligand binding domain, J Clin Invest., 88, 2123, 10.1172/JCI115542
Lazar, 1990, Nuclear thyroid hormone receptors, J Clin Invest., 86, 1777, 10.1172/JCI114906
Geffner, 1993, An arginine to histidine mutation in codon 311 of the C-erbA beta gene results in a mutant thyroid hormone receptor that does not mediate a dominant negative phenotype, J Clin Invest., 91, 538, 10.1172/JCI116233
Weintraub, 1981, Inappropriate secretion of thyroid stimulating hormone, Ann Intern Med., 95, 339, 10.7326/0003-4819-95-3-339
Kaplan, 1981, Partial peripheral resistance to thyroid hormone, Am J Med., 70, 1115, 10.1016/0002-9343(81)90885-8
Sarne, 1990, Serum thyrotropin and prolactin in the syndrome of generalized resistance to thyroid hormone: responses to thyrotropin-releasing hormone stimulation and short term triiodothyronine suppression, J Clin Endocrinol Metab., 70, 1305, 10.1210/jcem-70-5-1305
Beck-Peccoz, 1990, Sex hormone-binding globulin measurement in patients with inappropriate secretion of thyrotropin (IST): evidence against selective pituitary thyroid hormone resistance in nonneoplastic IST, J Clin Endocrinol Metab., 71, 19, 10.1210/jcem-71-1-19
Sarne, 1988, Sex hormone-binding globulin in the diagnosis of peripheral tissue resistance to thyroid hormone: the value of changes after short term triiodothyronine administration, J Clin Endocrinol Metab., 66, 740, 10.1210/jcem-66-4-740
Ruiz, 1982, Familial dysalbuminemic hyperthyroxinemia: a syndrome that can be confused with thyrotoxicosis, N Engl J Med., 306, 635, 10.1056/NEJM198203183061103
Kourides, 1977, Thyrotropin-induced hyperthyroidism: use of alpha and beta subunit levels to identify patients with pituitary tumors, J Clin Endocrinol Metab., 45, 534, 10.1210/jcem-45-3-534
Samuels, 1989, Clinical and molecular studies of a thyrotropin-secreting pituitary adenoma, J Clin Endocrinol Metab., 68, 1211, 10.1210/jcem-68-6-1211
Gesundheit, 1989, Thyrotropin-secreting pituitary adenomas: clinical and biochemical heterogeneity; case reports and follow-up of nine patients, Ann Intern Med., 111, 827, 10.7326/0003-4819-111-10-827
Smallridge, 1989, Thyroid hormone resistance in a large kindred: physiologic, biochemical, pharmacologic, and neuropsychologic studies, Am J Med., 86, 289, 10.1016/0002-9343(89)90298-2
Persani, 1994, Evidence for the secretion of thyrotropin with enhanced bioactivity in syndromes of thyroid hormone resistance, J Clin Endocrinol Metab., 78, 1034
Lamberg, 1973, Congenital euthyroid goitre and partial resistance to thyroid hormones, Lancet., 1, 854, 10.1016/S0140-6736(73)91421-9
Bantle, 1982, Resistance to thyroid hormones: a disorder frequently confused with Graves’ disease, Arch Intern Med., 142, 1867, 10.1001/archinte.1982.00340230113020
Dussault, 1987, Thyroid hormones and brain development, Annu Rev Physiol., 49, 321, 10.1146/annurev.ph.49.030187.001541
Beck-Peccoz, 1994, The variable clinical phenotype in thyroid hormone resistance syndrome, Thyroid., 4, 225, 10.1089/thy.1994.4.225