-
1
-
-
0031006011
-
-
Yagi H, Pohlenz J, Hayashi Y, et al. Resistance to thyroid hormone caused by two mutant thyroid hormone receptors beta, R243Q and R243W, with marked impairment of function that cannot be explained by altered in vitro 3,5,5′ -triiodothyroinine binding affinity. J Clin Endocrinol Metab 1997; 82:1608-1614.
-
Yagi H, Pohlenz J, Hayashi Y, et al. Resistance to thyroid hormone caused by two mutant thyroid hormone receptors beta, R243Q and R243W, with marked impairment of function that cannot be explained by altered in vitro 3,5,5′ -triiodothyroinine binding affinity. J Clin Endocrinol Metab 1997; 82:1608-1614.
-
-
-
-
3
-
-
0028287579
-
The variable clinical phenotype in thyroid hormone resistance syndrome
-
Beck-Peccoz P, Chatterjee VKK. The variable clinical phenotype in thyroid hormone resistance syndrome. Thyroid 1994; 4:225-232.
-
(1994)
Thyroid
, vol.4
, pp. 225-232
-
-
Beck-Peccoz, P.1
Chatterjee, V.K.K.2
-
4
-
-
0024232621
-
Tight linkage betweenthe syndrome of generalized resistance to thyroid hormone and the human c-erbA beta gene
-
Usala SJ, Bale AE, Gesundheit N, et al. Tight linkage betweenthe syndrome of generalized resistance to thyroid hormone and the human c-erbA beta gene. Mol Endocrinol 1988; 2:1217-1220.
-
(1988)
Mol Endocrinol
, vol.2
, pp. 1217-1220
-
-
Usala, S.J.1
Bale, A.E.2
Gesundheit, N.3
-
5
-
-
0029643769
-
A structural role for hormone in the thyroid hormone receptor
-
Wagner RL, Apriletti JW, McGrath ME, et al. A structural role for hormone in the thyroid hormone receptor. Nature 1995; 378:690-697.
-
(1995)
Nature
, vol.378
, pp. 690-697
-
-
Wagner, R.L.1
Apriletti, J.W.2
McGrath, M.E.3
-
6
-
-
0027978768
-
Spectrum of transcrip-tional, dimerization, and dominant-negative properties of 20 different mutant thyroid hormone beta receptors in thyroid hormone resistance syndrome
-
Collingwood TN, Adams M, Tone Y, Chatterjee VKK. Spectrum of transcrip-tional, dimerization, and dominant-negative properties of 20 different mutant thyroid hormone beta receptors in thyroid hormone resistance syndrome. Mol Endocrinol 1994; 8:1262-1277.
-
(1994)
Mol Endocrinol
, vol.8
, pp. 1262-1277
-
-
Collingwood, T.N.1
Adams, M.2
Tone, Y.3
Chatterjee, V.K.K.4
-
7
-
-
0026026319
-
Point mutation causing a single amino acid substitution in the hormone binding domain of the glucocorticoid receptor in famililal gluococorticoid resistance
-
Hurley DM, Accili D, Stratakis CA, et al. Point mutation causing a single amino acid substitution in the hormone binding domain of the glucocorticoid receptor in famililal gluococorticoid resistance. J Clin Invest 1991; 87: 680-686.
-
(1991)
J Clin Invest
, vol.87
, pp. 680-686
-
-
Hurley, D.M.1
Accili, D.2
Stratakis, C.A.3
-
8
-
-
0032511086
-
Hormone-dependent coactivator binding to a hydrophobic cleft on nuclear receptors
-
Feng WJ, Ribeiro RCJ, Wagner RL, et al. Hormone-dependent coactivator binding to a hydrophobic cleft on nuclear receptors. Science 1998; 280: 1747-1749.
-
(1998)
Science
, vol.280
, pp. 1747-1749
-
-
Feng, W.J.1
Ribeiro, R.C.J.2
Wagner, R.L.3
-
9
-
-
0027241002
-
The syndromes of resistance to thyroid hormone
-
Refetoff S, Weiss RE, Usala SJ. The syndromes of resistance to thyroid hormone. Endocr Rev 1993; 14:348-399.
-
(1993)
Endocr Rev
, vol.14
, pp. 348-399
-
-
Refetoff, S.1
Weiss, R.E.2
Usala, S.J.3
-
10
-
-
0026611997
-
A point mutation (Ala299 to Thr) in the hinge domain of the C-Erba-beta thyroid-hormone receptor gene in a family with generalized thyroid-hormone resistance
-
Behr M, Loos U. A point mutation (Ala299 to Thr) in the hinge domain of the C-Erba-beta thyroid-hormone receptor gene in a family with generalized thyroid-hormone resistance. Mol Endocrinol 1992; 6:1119-1126.
-
(1992)
Mol Endocrinol
, vol.6
, pp. 1119-1126
-
-
Behr, M.1
Loos, U.2
-
11
-
-
0032515153
-
Defective release of corepressor by hinge mutants of the thyroid hormone receptor found in patients with resistance to thyroid hormone
-
Safer JD, Cohen RN, Hollenberg AN, Wondisford FE. Defective release of corepressor by hinge mutants of the thyroid hormone receptor found in patients with resistance to thyroid hormone. J Biol Chem 1998; 273: 30175-30182.
-
(1998)
J Biol Chem
, vol.273
, pp. 30175-30182
-
-
Safer, J.D.1
Cohen, R.N.2
Hollenberg, A.N.3
Wondisford, F.E.4
-
12
-
-
33644984168
-
Resistance to thyroid hormone
-
Braverman LE, Utiger RE, editors, 9th ed. Philadelphia: Lippincott, Williams and Wilkins;
-
Refetoff S. Resistance to thyroid hormone. In: Braverman LE, Utiger RE, editors. Werner and Ingbar's The thyroid: a fundamental and clinical text, 9th ed. Philadelphia: Lippincott, Williams and Wilkins; 2005. pp. 1109-1129.
-
(2005)
Werner and Ingbar's The thyroid: A fundamental and clinical text
, pp. 1109-1129
-
-
Refetoff, S.1
-
13
-
-
0026511358
-
Recessive inheritance of thyroid hormone resistance caused by complete deletion of the protein-coding region of the thyroid hormone receptor-beta gene
-
Takeda K, Sakurai A, DeGroot LJ, Refetoff S. Recessive inheritance of thyroid hormone resistance caused by complete deletion of the protein-coding region of the thyroid hormone receptor-beta gene. J Clin Endocrinol Metab 1992; 74:49-55.
-
(1992)
J Clin Endocrinol Metab
, vol.74
, pp. 49-55
-
-
Takeda, K.1
Sakurai, A.2
DeGroot, L.J.3
Refetoff, S.4
-
14
-
-
31544451528
-
Endocrine and neuropsychological assessment in a child with a novel mutation of thyroid hormone receptor: Response to 12-month triiodothyroacetic acid (TRIAC) therapy
-
Torre P, Bertoli M, Di Giovanni S, et al. Endocrine and neuropsychological assessment in a child with a novel mutation of thyroid hormone receptor: response to 12-month triiodothyroacetic acid (TRIAC) therapy. J Endocrinol Invest 2005; 28:657-662.
-
(2005)
J Endocrinol Invest
, vol.28
, pp. 657-662
-
-
Torre, P.1
Bertoli, M.2
Di Giovanni, S.3
-
15
-
-
0030849022
-
Behavioral effects of liothyronine (L-T3) in children with attention deficit hyperactivity disorder in the presence and absence of resistance to thyroid hormone
-
Weiss RE, Stein Ma, Refetoff S. Behavioral effects of liothyronine (L-T3) in children with attention deficit hyperactivity disorder in the presence and absence of resistance to thyroid hormone. Thyroid 1997; 7:389-393.
-
(1997)
Thyroid
, vol.7
, pp. 389-393
-
-
Weiss, R.E.1
Ma, S.2
Refetoff, S.3
-
16
-
-
0041440992
-
Effectiveness of 3, 5, 30-triiodothyroacetic acid (TRIAC), but not bromocriptine, in lowering TSH secretion in one hyperthyroid patient with nonneoplastic pituitary TSH hypersecretion [Abstract]
-
Beck-Peccoz P, Piscitelli G, Cattaneo MG, Faglia G. Effectiveness of 3, 5, 30-triiodothyroacetic acid (TRIAC), but not bromocriptine, in lowering TSH secretion in one hyperthyroid patient with nonneoplastic pituitary TSH hypersecretion [Abstract]. Ann d'Endocrinol 1983; 44:38A.
-
(1983)
Ann d'Endocrinol
, vol.44
-
-
Beck-Peccoz, P.1
Piscitelli, G.2
Cattaneo, M.G.3
Faglia, G.4
-
17
-
-
0026701104
-
Bromocriptine and TRIAC therapy for hyperthyroidism due to pituitary resistance to thyroid hormone
-
Dulgeroff A, Geffner M, Koyal S, et al. Bromocriptine and TRIAC therapy for hyperthyroidism due to pituitary resistance to thyroid hormone. J Clin Endocrinol Metab 1992; 75:1071-1075.
-
(1992)
J Clin Endocrinol Metab
, vol.75
, pp. 1071-1075
-
-
Dulgeroff, A.1
Geffner, M.2
Koyal, S.3
-
18
-
-
0001798916
-
Management of patients with resistance to thyroid hormone
-
Weiss RE. Management of patients with resistance to thyroid hormone. Thyroid Today 1999; 12:1-11.
-
(1999)
Thyroid Today
, vol.12
, pp. 1-11
-
-
Weiss, R.E.1
-
19
-
-
0141960421
-
Successful therapy with L-T4 in a 5 year-old boy with generalized thyroid hormone resistance
-
Dundar B, Bober E, Buyukgebiz A. Successful therapy with L-T4 in a 5 year-old boy with generalized thyroid hormone resistance. J Pediatr Endocrinol Metab 2003; 16:1051-1056.
-
(2003)
J Pediatr Endocrinol Metab
, vol.16
, pp. 1051-1056
-
-
Dundar, B.1
Bober, E.2
Buyukgebiz, A.3
-
20
-
-
0031781158
-
-
Gurnell m, Rajanayagam O, Barbar I, et al. Reversible pituitary enlargement in the syndrome of resistance to thyroid hormone. Thyroid 1998; 7:678-682.
-
Gurnell m, Rajanayagam O, Barbar I, et al. Reversible pituitary enlargement in the syndrome of resistance to thyroid hormone. Thyroid 1998; 7:678-682.
-
-
-
-
21
-
-
0027241002
-
The syndromes of resistance to thyroid hormone
-
Refetoff S, Weiss RE, Usala SJ. The syndromes of resistance to thyroid hormone. Endocr Rev 1993; 14:348-399.
-
(1993)
Endocr Rev
, vol.14
, pp. 348-399
-
-
Refetoff, S.1
Weiss, R.E.2
Usala, S.J.3
-
22
-
-
0033535580
-
Central hypothyroidism associated with retionid X receptor-selective ligands
-
Sherman SI, Gopal J,Haugen BR, et al. Central hypothyroidism associated with retionid X receptor-selective ligands. N Engl J Med 1999; 340:1075-1079.
-
(1999)
N Engl J Med
, vol.340
, pp. 1075-1079
-
-
Sherman, S.I.1
Gopal, J.2
Haugen, B.R.3
-
23
-
-
0028882610
-
Genetic and clinical features of 42 kindreds with resistance to thyroid hormone. The National Institutes of Health prospective study
-
Brucker-Davis F, Skarulis MC, Grace MB, et al. Genetic and clinical features of 42 kindreds with resistance to thyroid hormone. The National Institutes of Health prospective study. Ann Intern Med 1995; 123:573-583.
-
(1995)
Ann Intern Med
, vol.123
, pp. 573-583
-
-
Brucker-Davis, F.1
Skarulis, M.C.2
Grace, M.B.3
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