-
1
-
-
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
-
2
-
-
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
-
3
-
-
33644984168
-
Resistance to thyroid hormone (Chapter 81)
-
Braverman LE, Utiger RE eds, Ninth ed. Lippincott, Williams and Wilkins, Philadelphia
-
Refetoff S. Resistance to thyroid hormone (Chapter 81). In: Braverman LE, Utiger RE (eds) Werner and Ingbar's The Thyroid: A Fundamental and Clinical Text, Ninth ed. Lippincott, Williams and Wilkins, Philadelphia 2005; 1109-1129
-
(2005)
Werner and Ingbar's The Thyroid: A Fundamental and Clinical Text
, pp. 1109-1129
-
-
Refetoff, S.1
-
4
-
-
17744396662
-
Cardiac ion channel expression and contractile function in mice with deletion of thyroid hormone receptor alpha or beta
-
Gloss B, Trost SU, Bluhm WF, Swanson EA, Clark R, Winkfein R, Janzen KM, Giles W, Chassande O, Samarut J, Dillmann WH. Cardiac ion channel expression and contractile function in mice with deletion of thyroid hormone receptor alpha or beta. Endocrinology 2001; 142: 544-550
-
(2001)
Endocrinology
, vol.142
, pp. 544-550
-
-
Gloss, B.1
Trost, S.U.2
Bluhm, W.F.3
Swanson, E.A.4
Clark, R.5
Winkfein, R.6
Janzen, K.M.7
Giles, W.8
Chassande, O.9
Samarut, J.10
Dillmann, W.H.11
-
5
-
-
0036146260
-
Cardiac involvement in thyroid hormone resistance
-
Kahaly GJ, Matthews CH, Mohr-Kahaly S, Richards CA, Chatterjee VK. Cardiac involvement in thyroid hormone resistance. J Clin Endocrinol Metab 2002; 87: 204-122
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 204-122
-
-
Kahaly, G.J.1
Matthews, C.H.2
Mohr-Kahaly, S.3
Richards, C.A.4
Chatterjee, V.K.5
-
6
-
-
33748741884
-
Mosaicism of a Thyroid Hormone Receptor (TR) Beta Gene Mutation in Resistance to Thyroid Hormone (RTH)
-
Mamanasiri S, Yesil S, Dumitrescu AM, Liao XH, Demir T, Weiss RE, Refetoff S. Mosaicism of a Thyroid Hormone Receptor (TR) Beta Gene Mutation in Resistance to Thyroid Hormone (RTH). J Clin Endocrinol Metab 2006; 91: 3471-3477
-
(2006)
J Clin Endocrinol Metab
, vol.91
, pp. 3471-3477
-
-
Mamanasiri, S.1
Yesil, S.2
Dumitrescu, A.M.3
Liao, X.H.4
Demir, T.5
Weiss, R.E.6
Refetoff, S.7
-
7
-
-
0027930409
-
Genetic analysis of 29 kindreds with generalized and pituitary resistance to thyroid hormone: Identification of thirteen novel mutations in the thyroid hormone receptor ß gene
-
Adams M, Matthews C, Collingwood TN, Tone Y, Beck-Peccoz P, Chatterjee KK. Genetic analysis of 29 kindreds with generalized and pituitary resistance to thyroid hormone: identification of thirteen novel mutations in the thyroid hormone receptor ß gene. J Clin Invest 1994; 94: 506-515
-
(1994)
J Clin Invest
, vol.94
, pp. 506-515
-
-
Adams, M.1
Matthews, C.2
Collingwood, T.N.3
Tone, Y.4
Beck-Peccoz, P.5
Chatterjee, K.K.6
-
8
-
-
0033306889
-
Five new families with resistance to thyroid hormone not caused by mutations in the thyroid hormone receptor 1 gene
-
Pohlenz J, Weiss RE, Macchia PE, Pannain S, Lau IT, Ho H, Refetoff S. Five new families with resistance to thyroid hormone not caused by mutations in the thyroid hormone receptor 1 gene. J Clin Endocrinol Metab 1999; 84: 3919-3928
-
(1999)
J Clin Endocrinol Metab
, vol.84
, pp. 3919-3928
-
-
Pohlenz, J.1
Weiss, R.E.2
Macchia, P.E.3
Pannain, S.4
Lau, I.T.5
Ho, H.6
Refetoff, S.7
-
9
-
-
18544409937
-
Identification de huit mutations dans le géne c-erbAß chez des patients atteints de résistance aux hormones thyroïdiennes. [Identification of eight new mutations in the c-erbAB gene of patients with resistance to thyroid hormone]
-
Margotat A, Sarkissian G, Malezet-Desmoulins C, Peyrol N, Vlaeminck Guillem V, Wemeau JL, Torresani J. Identification de huit mutations dans le géne c-erbAß chez des patients atteints de résistance aux hormones thyroïdiennes. [Identification of eight new mutations in the c-erbAB gene of patients with resistance to thyroid hormone]. Ann Endocrinol (Paris) 2001; 62: 220-225
-
(2001)
Ann Endocrinol (Paris)
, vol.62
, pp. 220-225
-
-
Margotat, A.1
Sarkissian, G.2
Malezet-Desmoulins, C.3
Peyrol, N.4
Vlaeminck Guillem, V.5
Wemeau, J.L.6
Torresani, J.7
-
10
-
-
23444451622
-
Resistance to thyroid hormone associated with autoimmune thyroid disease in a Turkish family
-
Aksoy DY, Gurlek A, Ringkananont U, Weiss RE, Refetoff S. Resistance to thyroid hormone associated with autoimmune thyroid disease in a Turkish family. J Endocrinol Invest 2005; 28: 379-383
-
(2005)
J Endocrinol Invest
, vol.28
, pp. 379-383
-
-
Aksoy, D.Y.1
Gurlek, A.2
Ringkananont, U.3
Weiss, R.E.4
Refetoff, S.5
-
11
-
-
33749840430
-
Thyroid hormone resistance: The role of mutational analysis
-
Florkowski CM, Brownlie BE, Croxson MS, Manning P, Farrand S, Smith G, Potter HC, George PM. Thyroid hormone resistance: the role of mutational analysis. Intern Med J 2006; 36: 738-741
-
(2006)
Intern Med J
, vol.36
, pp. 738-741
-
-
Florkowski, C.M.1
Brownlie, B.E.2
Croxson, M.S.3
Manning, P.4
Farrand, S.5
Smith, G.6
Potter, H.C.7
George, P.M.8
-
12
-
-
33747686420
-
Study on TR beta gene mutation in a thyroid hormone resistance syndrome family
-
Liu J, Shi B. Study on TR beta gene mutation in a thyroid hormone resistance syndrome family. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2006; 23: 423-426
-
(2006)
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
, vol.23
, pp. 423-426
-
-
Liu, J.1
Shi, B.2
-
13
-
-
0030901251
-
Phenotype differences of resistance to thyroid hormone (RTH) in two unrelated families with identical mutations in the thyroid hormone receptor ß gene (R320C)
-
Weiss RE, Tunca H, Knapple WL, Faas FH, Refetoff S. Phenotype differences of resistance to thyroid hormone (RTH) in two unrelated families with identical mutations in the thyroid hormone receptor ß gene (R320C). Thyroid 1997; 7: 35-38
-
(1997)
Thyroid
, vol.7
, pp. 35-38
-
-
Weiss, R.E.1
Tunca, H.2
Knapple, W.L.3
Faas, F.H.4
Refetoff, S.5
-
14
-
-
0030723649
-
Thyroid hormone resistance: Variable clinical manifestations in five patients
-
Reinhardt W, Jockenhövel F, Deuble J, Chatterjee VKK, Reinwein D, Mann K. Thyroid hormone resistance: variable clinical manifestations in five patients. Nuklearmedizin 1997; 36: 250-255
-
(1997)
Nuklearmedizin
, vol.36
, pp. 250-255
-
-
Reinhardt, W.1
Jockenhövel, F.2
Deuble, J.3
Chatterjee, V.K.K.4
Reinwein, D.5
Mann, K.6
-
15
-
-
0026740702
-
A point mutation in the 3,5,3′-triiodothyronine-binding domain of thyroid hormone receptor ß associated with a family with generalized resistance to thyroid hormone
-
Shuto Y, Wakabayashi I, Amuro N, Minami S, Okazaki T. A point mutation in the 3,5,3′-triiodothyronine-binding domain of thyroid hormone receptor ß associated with a family with generalized resistance to thyroid hormone. J Clin Endocrinol Metab 1992; 75: 213-217
-
(1992)
J Clin Endocrinol Metab
, vol.75
, pp. 213-217
-
-
Shuto, Y.1
Wakabayashi, I.2
Amuro, N.3
Minami, S.4
Okazaki, T.5
-
16
-
-
0038702060
-
A new case of resistance to thyroid hormone caused by a de novo P453T Mutation in the thyroid hormone receptor gene in an israeli child
-
Ishay A, Dumitrescu A, Luboshitzky R, Rakover Y, Refetoff S. A new case of resistance to thyroid hormone caused by a de novo P453T Mutation in the thyroid hormone receptor gene in an israeli child. Thyroid 2003; 13: 409-412
-
(2003)
Thyroid
, vol.13
, pp. 409-412
-
-
Ishay, A.1
Dumitrescu, A.2
Luboshitzky, R.3
Rakover, Y.4
Refetoff, S.5
-
17
-
-
0037810774
-
Identification de una transversión heterocigota 1337C>A (P453T) en el exón 10 del gen del receptor de hormonas tiroideas ß en una familia con resistencia a hormonas tiroideas.
-
Rivolta CM, Feijoo MC, Targovnik HM, Funes A. Identification de una transversión heterocigota 1337C>A (P453T) en el exón 10 del gen del receptor de hormonas tiroideas ß en una familia con resistencia a hormonas tiroideas. Rev Arg Endocinol Metab 2003; 40: 13-22
-
(2003)
Rev Arg Endocinol Metab
, vol.40
, pp. 13-22
-
-
Rivolta, C.M.1
Feijoo, M.C.2
Targovnik, H.M.3
Funes, A.4
-
18
-
-
23744508429
-
Tissue responses to thyroid hormone in a kindred with resistance to thyroid hormone harboring a commonly occurring mutation in the thyroid hormone receptor beta gene (P453T)
-
Wu SY, Sadow PM, Refetoff S, Weiss RE. Tissue responses to thyroid hormone in a kindred with resistance to thyroid hormone harboring a commonly occurring mutation in the thyroid hormone receptor beta gene (P453T). J Lab Clin Med 2005; 146: 85-94
-
(2005)
J Lab Clin Med
, vol.146
, pp. 85-94
-
-
Wu, S.Y.1
Sadow, P.M.2
Refetoff, S.3
Weiss, R.E.4
-
19
-
-
33745619210
-
A family showing resistance to thyroid hormone associated with chronic thyroiditis and its clinical features: A case report
-
Sato H, Sakai H. A family showing resistance to thyroid hormone associated with chronic thyroiditis and its clinical features: A case report. Endocr J 2006; 53: 421-425
-
(2006)
Endocr J
, vol.53
, pp. 421-425
-
-
Sato, H.1
Sakai, H.2
-
20
-
-
0026508374
-
Rapid localization of mutations in the thyroid hormone receptor-ß gene by denaturing gradient gel electrophoresis in 18 families with thyroid hormone resistance
-
Takeda K, Weiss RE, Refetoff S. Rapid localization of mutations in the thyroid hormone receptor-ß gene by denaturing gradient gel electrophoresis in 18 families with thyroid hormone resistance. J Clin Endocrinol Metab 1992; 74: 712-719
-
(1992)
J Clin Endocrinol Metab
, vol.74
, pp. 712-719
-
-
Takeda, K.1
Weiss, R.E.2
Refetoff, S.3
-
21
-
-
0028022074
-
Resistance to thyroid hormone in subjects from two unrelated families is associated with a point mutation in the thyroid hormone receptor ß gene resulting in the replacement of the normal proline 453 with serine
-
Refetoff S, Weiss RE, Wing JR, Sarne D, Chyna B, Hayashi Y. Resistance to thyroid hormone in subjects from two unrelated families is associated with a point mutation in the thyroid hormone receptor ß gene resulting in the replacement of the normal proline 453 with serine. Thyroid 1994; 4: 249-254
-
(1994)
Thyroid
, vol.4
, pp. 249-254
-
-
Refetoff, S.1
Weiss, R.E.2
Wing, J.R.3
Sarne, D.4
Chyna, B.5
Hayashi, Y.6
-
22
-
-
0028820358
-
Functional analysis of a proline to serine mutation in codon 453 of the thyroid hormone receptor ß1 gene
-
Ozata M, Suzuki S, Takeda T, Malkin DG, Miyamoto T, Liu R-T, Suzuki N, Silverberg JDH, Daneman D, DeGroot LJ. Functional analysis of a proline to serine mutation in codon 453 of the thyroid hormone receptor ß1 gene. J Clin Endocrinol Metab 1995; 80: 3239-3245
-
(1995)
J Clin Endocrinol Metab
, vol.80
, pp. 3239-3245
-
-
Ozata, M.1
Suzuki, S.2
Takeda, T.3
Malkin, D.G.4
Miyamoto, T.5
Liu, R.-T.6
Suzuki, N.7
Silverberg, J.D.H.8
Daneman, D.9
DeGroot, L.J.10
-
23
-
-
0027978768
-
Spectrum of transcriptional, dimerization, and dominant negative properties of twenty different mutant thyroid hormone ß-receptors in thyroid hormone resistance syndrome
-
Collingwood TN, Adams M, Tone Y, Chatterjee VKK. Spectrum of transcriptional, dimerization, and dominant negative properties of twenty different mutant thyroid hormone ß-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
-
24
-
-
0025141255
-
A base mutation of the c-erbAb thyroid hormone receptor in a kindred with generalized thyroid hormone resistance. Molecular heterogeneity in two other kindreds
-
Usala SJ, Tennyson GE, Bale AE, Lash RW, Gesundheit N, Wondisford FE, Accili D, Hauser P, Weintraub BD. A base mutation of the c-erbAb thyroid hormone receptor in a kindred with generalized thyroid hormone resistance. Molecular heterogeneity in two other kindreds. J Clin Invest 1990; 85: 93-100
-
(1990)
J Clin Invest
, vol.85
, pp. 93-100
-
-
Usala, S.J.1
Tennyson, G.E.2
Bale, A.E.3
Lash, R.W.4
Gesundheit, N.5
Wondisford, F.E.6
Accili, D.7
Hauser, P.8
Weintraub, B.D.9
-
25
-
-
0025164139
-
Thyroid hormone and DNA binding properties of a mutant c-erbAß receptor associated with generalized thyroid hormone resistance
-
Usala SJ, Wondisford FE, Watson TL, Menke JB, Weintraub BD. Thyroid hormone and DNA binding properties of a mutant c-erbAß receptor associated with generalized thyroid hormone resistance. Biochem Biophys Res Commun 1990; 171: 575-580
-
(1990)
Biochem Biophys Res Commun
, vol.171
, pp. 575-580
-
-
Usala, S.J.1
Wondisford, F.E.2
Watson, T.L.3
Menke, J.B.4
Weintraub, B.D.5
-
26
-
-
0031911110
-
Antibody interference in thyroid assays: A potential for clinical misinformation
-
Despres N, Grant AM. Antibody interference in thyroid assays: a potential for clinical misinformation. Clin Chem 1998; 44: 440-454
-
(1998)
Clin Chem
, vol.44
, pp. 440-454
-
-
Despres, N.1
Grant, A.M.2
-
27
-
-
61849105941
-
-
Defects of thyroid hormone transport in serum, ed Thyroid Disease Manager
-
Refetoff S. Defects of thyroid hormone transport in serum. In: DeGroot LJ (ed) Thyroid Disease Manager. http://www.thyroidmanager.org 2007
-
(2007)
Refetoff S
-
-
-
28
-
-
0030447911
-
Thyrotropin-secreting pituitary tumors
-
Beck-Peccoz P, Brucker-Davis F, Persani L, Smallridge RC, Weintraub BD. Thyrotropin-secreting pituitary tumors. Endocr Rev 1996; 17: 610-838
-
(1996)
Endocr Rev
, vol.17
, pp. 610-838
-
-
Beck-Peccoz, P.1
Brucker-Davis, F.2
Persani, L.3
Smallridge, R.C.4
Weintraub, B.D.5
-
29
-
-
0027528480
-
Attention deficit-hyperactivity disorder in people with generalized resistance to thyroid hormone
-
Hauser P, Zametkin AJ, Martinez P, Vitiello B, Matochik JA, Mixson AJ, Weintraub BD. Attention deficit-hyperactivity disorder in people with generalized resistance to 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
Vitiello, B.4
Matochik, J.A.5
Mixson, A.J.6
Weintraub, B.D.7
-
30
-
-
0027490481
-
Attention-deficit hyperactivity disorder and thyroid function
-
Weiss RE, Stein MA, Trommer B, Refetoff S. Attention-deficit hyperactivity disorder and thyroid function. J Pediatr 1993; 123: 539-545
-
(1993)
J Pediatr
, vol.123
, pp. 539-545
-
-
Weiss, R.E.1
Stein, M.A.2
Trommer, B.3
Refetoff, S.4
-
31
-
-
0032442365
-
Thyroid hormone receptor ß-dependent expression of a potassium conductance in inner hair cells at the onset of hearing
-
Rüsch A, Erway LC, Oliver D, Vennström B, Forrest D. Thyroid hormone receptor ß-dependent expression of a potassium conductance in inner hair cells at the onset of hearing. Proc Natl Acad Sci (USA) 1998; 95: 15758-15762
-
(1998)
Proc Natl Acad Sci (USA)
, vol.95
, pp. 15758-15762
-
-
Rüsch, A.1
Erway, L.C.2
Oliver, D.3
Vennström, B.4
Forrest, D.5
-
32
-
-
0347362566
-
Pathophysiology of pediatric fecal incontinence
-
Lorenzo C Di, Benninga MA. Pathophysiology of pediatric fecal incontinence. Gastroenterology 2004; 126: S33-40
-
(2004)
Gastroenterology
, vol.126
-
-
Di, L.C.1
MA, B.2
-
33
-
-
0034443163
-
Review of the treatment literature for encopresis, functional constipation, and stool-toileting refusal
-
Brooks RC, Copen RM, Cox DJ, Morris J, Borowitz S, Sutphen J. Review of the treatment literature for encopresis, functional constipation, and stool-toileting refusal. Ann Behav Med 2000; 22: 260-267
-
(2000)
Ann Behav Med
, vol.22
, pp. 260-267
-
-
Brooks, R.C.1
Copen, R.M.2
Cox, D.J.3
Morris, J.4
Borowitz, S.5
Sutphen, J.6
-
34
-
-
0028314009
-
Pituitary magnetic resonance imaging in normal human volunteers: Occult adenomas in the general population
-
Hall WA, Luciano MG, Doppman JL, Patronas NJ, Oldfield EH. Pituitary magnetic resonance imaging in normal human volunteers: occult adenomas in the general population. Ann Intern Med 1994; 120: 817-820
-
(1994)
Ann Intern Med
, vol.120
, pp. 817-820
-
-
Hall, W.A.1
Luciano, M.G.2
Doppman, J.L.3
Patronas, N.J.4
Oldfield, E.H.5
|