-
1
-
-
0014055213
-
Familial syndrome combining deaf-mutism, stippled epiphyses, goitre and abnormally high PBI: Possible target organ refractoriness to thyroid hormone
-
Refetoff S, De Wind LT. De Groot LJ. Familial syndrome combining deaf-mutism, stippled epiphyses, goitre and abnormally high PBI: possible target organ refractoriness to thyroid hormone. J Clin Endocrinol Metab 1967;27:279-94.
-
(1967)
J Clin Endocrinol Metab
, vol.27
, pp. 279-294
-
-
Refetoff, S.1
De Wind, L.T.2
De Groot, L.J.3
-
2
-
-
0027241002
-
The syndromes of resistance of thyroid hormone
-
Refetoff S, Weiss RE, Usala SJ. The syndromes of resistance of thyroid hormone. Endocr Rev 1993;14:348-99.
-
(1993)
Endocr Rev
, vol.14
, pp. 348-399
-
-
Refetoff, S.1
Weiss, R.E.2
Usala, S.J.3
-
3
-
-
33644984168
-
Resistance to thyroid hormone
-
Braverman LE, Utiger RE, eds, 9th ed. Philadelphia: Lippincott, Williams and Wilkins
-
Refetoff S. Resistance to thyroid hormone. In: Braverman LE, Utiger RE, eds. Werner and Ingbar's The thyroid: a fundamental and clinical text, 9th ed. Philadelphia: Lippincott, Williams and Wilkins, 2005:1109-29.
-
(2005)
Werner and Ingbar's The thyroid: A fundamental and clinical text
, pp. 1109-1129
-
-
Refetoff, S.1
-
4
-
-
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.
-
(1994)
Thyroid
, vol.4
, pp. 225
-
-
Beck-Peccoz, P.1
Chatterjee, V.K.K.2
-
5
-
-
0019471353
-
Partial peripheral resistance thyroid hormone
-
Kaplan MM, Swartz SL, Larson PR. Partial peripheral resistance thyroid hormone. Am J Med 1981;70:1115.
-
(1981)
Am J Med
, vol.70
, pp. 1115
-
-
Kaplan, M.M.1
Swartz, S.L.2
Larson, P.R.3
-
6
-
-
34249984656
-
Syndromes of reduced sensitivity to thyroid hormone: Genetic defects in hormone receptors, cell transporters and deiodination
-
Refetoff S, Dumitrescu AM. Syndromes of reduced sensitivity to thyroid hormone: genetic defects in hormone receptors, cell transporters and deiodination. Best Pract Res Clin Endocrinol Metabol 2007;21:277- 305.
-
(2007)
Best Pract Res Clin Endocrinol Metabol
, vol.21
, pp. 277-305
-
-
Refetoff, S.1
Dumitrescu, A.M.2
-
7
-
-
0024232621
-
Tight linkage between thyroid hormone resistance and the human c-erbAβ gene
-
Usala SJ, Bale AE, Gesundheit N, et al. Tight linkage between thyroid hormone resistance and the human c-erbAβ gene. Mol Endocrinol 1988;2:1217-20.
-
(1988)
Mol Endocrinol
, vol.2
, pp. 1217-1220
-
-
Usala, S.J.1
Bale, A.E.2
Gesundheit, N.3
-
9
-
-
0027930409
-
Genetic analysis of twenty-nine kindreds with generalized and pituitary resistance to thyroid hormone
-
Adams M, Matthews C, Collingwood TN, et al. Genetic analysis of twenty-nine kindreds with generalized and pituitary resistance to thyroid hormone. J Clin Invest 1994;94:506-15.
-
(1994)
J Clin Invest
, vol.94
, pp. 506-515
-
-
Adams, M.1
Matthews, C.2
Collingwood, T.N.3
-
10
-
-
33748741884
-
Mosaicism of a thyroid hormone receptor gene mutation in resistance to thyroid hormone
-
Mamanasiri S, Yesil S, Dumitrescu AM, et al. Mosaicism of a thyroid hormone receptor gene mutation in resistance to thyroid hormone. J Clin Endocrinol Metab 2006;91:3471-7.
-
(2006)
J Clin Endocrinol Metab
, vol.91
, pp. 3471-3477
-
-
Mamanasiri, S.1
Yesil, S.2
Dumitrescu, A.M.3
-
11
-
-
0029822862
-
Dominant inheritance of resistance to thyroid hormone not linked to defects in the thyroid hormone receptor α or β genes may be due to a defective cofactor
-
Weiss RE, Hayashi Y, Nagaya T, et al. Dominant inheritance of resistance to thyroid hormone not linked to defects in the thyroid hormone receptor α or β genes may be due to a defective cofactor. J Clin Endocrinol Metab 1996;81:4196-203.
-
(1996)
J Clin Endocrinol Metab
, vol.81
, pp. 4196-4203
-
-
Weiss, R.E.1
Hayashi, Y.2
Nagaya, T.3
-
12
-
-
0033805191
-
Resistance to thyroid hormone in the absence of mutations in the thyroid hormone receptor genes
-
Sadow P, Reutratkul S, Weiss RE, et al. Resistance to thyroid hormone in the absence of mutations in the thyroid hormone receptor genes. Curr Opin Endocrinol Diabetes 2000;7:253-9.
-
(2000)
Curr Opin Endocrinol Diabetes
, vol.7
, pp. 253-259
-
-
Sadow, P.1
Reutratkul, S.2
Weiss, R.E.3
-
13
-
-
27644590509
-
Mutations in SECISBP2 result in abnormal thyroid hormone metabolism
-
Dumitrescu AM, Liao Xiao-Hui, Abdullah MSY, et al. Mutations in SECISBP2 result in abnormal thyroid hormone metabolism. Nat Genet 2005;37:1247-52.
-
(2005)
Nat Genet
, vol.37
, pp. 1247-1252
-
-
Dumitrescu, A.M.1
Liao, X.-H.2
Abdullah, M.S.Y.3
-
14
-
-
0347634343
-
A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene
-
Dumitrescu AM, Liao XH, Best TB, et al. A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene. Am J Human Genet 2004;74:168-75.
-
(2004)
Am J Human Genet
, vol.74
, pp. 168-175
-
-
Dumitrescu, A.M.1
Liao, X.H.2
Best, T.B.3
-
15
-
-
5644276275
-
Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation
-
Friesema EC, Grueters A, Biebermann H, et al. Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation. Lancet 2004;364:1435-7.
-
(2004)
Lancet
, vol.364
, pp. 1435-1437
-
-
Friesema, E.C.1
Grueters, A.2
Biebermann, H.3
-
16
-
-
0033118328
-
Mice deficient in the steroid receptor coactivator I (SRC-1) are resistant to thyroid hormone
-
Weiss RE, Xu J, Ning G, et al. Mice deficient in the steroid receptor coactivator I (SRC-1) are resistant to thyroid hormone. EMBO J 1999;18:1900-4.
-
(1999)
EMBO J
, vol.18
, pp. 1900-1904
-
-
Weiss, R.E.1
Xu, J.2
Ning, G.3
-
17
-
-
0027978768
-
Spectrum of transcriptional dimerization and dominant negative properties of twenty different mutant thyroid β receptors in thyroid hormone resistance syndrome
-
Collingwood TN, Adams M, Tone Y, et al. Spectrum of transcriptional dimerization and dominant negative properties of twenty different mutant thyroid β receptors in thyroid hormone resistance syndrome. Mol Endocrinol 1994;8:1262-77.
-
(1994)
Mol Endocrinol
, vol.8
, pp. 1262-1277
-
-
Collingwood, T.N.1
Adams, M.2
Tone, Y.3
-
20
-
-
0028882610
-
Genetic and clinical features of 42 kindreds with resistance to thyroid hormone
-
Brucker DF, Skarulis MC, Grace MB, et al. Genetic and clinical features of 42 kindreds with resistance to thyroid hormone. Ann Intern Med 1995;123:572-83.
-
(1995)
Ann Intern Med
, vol.123
, pp. 572-583
-
-
Brucker, D.F.1
Skarulis, M.C.2
Grace, M.B.3
-
21
-
-
0028323464
-
Evidence for the secretion of thyrotropin with enhanced bioactivity in syndromes of thyroid hormone resistance
-
Persani L, Asteria C, Tonacchera M, et al. Evidence for the secretion of thyrotropin with enhanced bioactivity in syndromes of thyroid hormone resistance. J Clin Endocrinol Metab 1974;78:1034-9.
-
(1974)
J Clin Endocrinol Metab
, vol.78
, pp. 1034-1039
-
-
Persani, L.1
Asteria, C.2
Tonacchera, M.3
-
22
-
-
0027528480
-
Attention deficit-hyperactivity disorder in people with generalized resistance of thyroid hormone
-
Hauser P, Zametkin AJ, Martinez P, et al Attention deficit-hyperactivity disorder in people with generalized resistance of thyroid hormone. N Engl J Med 1993;328:997-1001.
-
(1993)
N Engl J Med
, vol.328
, pp. 997-1001
-
-
Hauser, P.1
Zametkin, A.J.2
Martinez, P.3
-
23
-
-
0026730036
-
Correlation of language abnormalities with localization of mutations in the β-thyroid hormone receptor in 13 kindreds with generalized resistance to thyroid hormone: Identification of four new mutations
-
Mixson AJ, Parrilla R, Ransom SC, et al. Correlation of language abnormalities with localization of mutations in the β-thyroid hormone receptor in 13 kindreds with generalized resistance to thyroid hormone: identification of four new mutations. J Clin Endocrinol Metab 1992;75:1039-15.
-
(1992)
J Clin Endocrinol Metab
, vol.75
, pp. 1039-1115
-
-
Mixson, A.J.1
Parrilla, R.2
Ransom, S.C.3
-
24
-
-
0029815337
-
Prevalence and mechanism of hearing loss in patients with resistance to thyroid hormone
-
Brucker-Davis F, Skarulis MC, Pikus A, et al. Prevalence and mechanism of hearing loss in patients with resistance to thyroid hormone. J Clin Endocrinol Metab 1996;81:2768-72.
-
(1996)
J Clin Endocrinol Metab
, vol.81
, pp. 2768-2772
-
-
Brucker-Davis, F.1
Skarulis, M.C.2
Pikus, A.3
-
26
-
-
0020602025
-
Successful treatment of hyperthyroidism due to nonneoplastic pituitary TSH hypersecretion with 3,5,3-triiodothyroacetic acid (TRIAC)
-
Beck-Peccoz P, Piscitelli G, Gattaneo MG, et al. Successful treatment of hyperthyroidism due to nonneoplastic pituitary TSH hypersecretion with 3,5,3-triiodothyroacetic acid (TRIAC). J Endocrinol Invest 1983;6:217-23.
-
(1983)
J Endocrinol Invest
, vol.6
, pp. 217-223
-
-
Beck-Peccoz, P.1
Piscitelli, G.2
Gattaneo, M.G.3
-
27
-
-
0031406558
-
Clinical and hormonal outcome after two years of TRIAC treatment in a child with thyroid hormone resistance
-
Radetti G, Persani L, Molinaro G, et al. Clinical and hormonal outcome after two years of TRIAC treatment in a child with thyroid hormone resistance. Thyroid 1997;7:775-8.
-
(1997)
Thyroid
, vol.7
, pp. 775-778
-
-
Radetti, G.1
Persani, L.2
Molinaro, G.3
-
28
-
-
0030331533
-
Differences in response of thyrotropin to 3,5,3′-triiodothyronine and 3,5,3′-triiodothyroacetic acid in patients with resistance to thyroid hormone
-
Ueda S, Takamatsu J, Fukata S, et al. Differences in response of thyrotropin to 3,5,3′-triiodothyronine and 3,5,3′-triiodothyroacetic acid in patients with resistance to thyroid hormone. Thyroid 1996;6:563-70.
-
(1996)
Thyroid
, vol.6
, pp. 563-570
-
-
Ueda, S.1
Takamatsu, J.2
Fukata, S.3
-
29
-
-
0023700739
-
Hyperthyroidism due to selective pituitary resistance to thyroid hormones in 15-month-old boy: Efficacy of D-thyroxine therapy
-
Hamon P, Bovier-LaPierre M, Robert M, et al. Hyperthyroidism due to selective pituitary resistance to thyroid hormones in 15-month-old boy: efficacy of D-thyroxine therapy. J Clin Endocrinol Metab 1988;67:1089-93.
-
(1988)
J Clin Endocrinol Metab
, vol.67
, pp. 1089-1093
-
-
Hamon, P.1
Bovier-LaPierre, M.2
Robert, M.3
-
30
-
-
0025190586
-
Thyrotoxicosis due to pituitary resistance to thyroid hormones. Successful control with D-thyroxine: A study in 3 patients
-
Dorey F, Stauch G, Gayno JP. Thyrotoxicosis due to pituitary resistance to thyroid hormones. Successful control with D-thyroxine: a study in 3 patients. Clin Endocrinol 1990;32:221-8.
-
(1990)
Clin Endocrinol
, vol.32
, pp. 221-228
-
-
Dorey, F.1
Stauch, G.2
Gayno, J.P.3
-
31
-
-
0026701104
-
Bromocriptine and TRIAC therapy for hyperthyroidism due to pituitary resistance to thyroid hormone
-
Dulgeroff AJ, Geffner ME, Koyal SN, et al. Bromocriptine and TRIAC therapy for hyperthyroidism due to pituitary resistance to thyroid hormone. J Clin Endocrinol Metab 1992;75:1071-5.
-
(1992)
J Clin Endocrinol Metab
, vol.75
, pp. 1071-1075
-
-
Dulgeroff, A.J.1
Geffner, M.E.2
Koyal, S.N.3
-
32
-
-
0024494834
-
Treatment of hyperthyroidism due to inappropriate secretion of thyrotropin with the somatostatin analog SMS 201-995
-
Beck-Peccoz P, Mariotti S, Guillausseau PJ, et al. Treatment of hyperthyroidism due to inappropriate secretion of thyrotropin with the somatostatin analog SMS 201-995. J Clin Endocrinol Metab 1989;68:208-14.
-
(1989)
J Clin Endocrinol Metab
, vol.68
, pp. 208-214
-
-
Beck-Peccoz, P.1
Mariotti, S.2
Guillausseau, P.J.3
-
33
-
-
1442334376
-
Regression of large goiter in a patient with resistance to thyroid hormone by every other day treatment with triiodothyronine
-
Anselmo J, Refetoff S. Regression of large goiter in a patient with resistance to thyroid hormone by every other day treatment with triiodothyronine. Thyroid 2004;14:71-4.
-
(2004)
Thyroid
, vol.14
, pp. 71-74
-
-
Anselmo, J.1
Refetoff, S.2
-
34
-
-
0033072276
-
Treatment of resistance to thyroid hormone - primum non nocere
-
Weiss RE, Refetoff S. Treatment of resistance to thyroid hormone - primum non nocere. J Clin Endocrinol Metab 1999;84:401-4.
-
(1999)
J Clin Endocrinol Metab
, vol.84
, pp. 401-404
-
-
Weiss, R.E.1
Refetoff, S.2
-
35
-
-
0038407750
-
Thyroid hormone receptors: Lessons from knock-out and knock-in mutant mice
-
Flamant F, Samarut J. Thyroid hormone receptors: lessons from knock-out and knock-in mutant mice. Trends Endocrinol Metab 2003;14:85-90.
-
(2003)
Trends Endocrinol Metab
, vol.14
, pp. 85-90
-
-
Flamant, F.1
Samarut, J.2
|