-
1
-
-
0019967009
-
Familial hyperthyroidism without evidence of autoimmunity
-
Thomas J, Leclere J, Hartemann P, Duheille J, Orgiazzi J, Petersen M, Janot C, Guedenet J 1982 Familial hyperthyroidism without evidence of autoimmunity. Acta Endocrinol (Copenh) 100:512-518.
-
(1982)
Acta Endocrinol (Copenh)
, vol.100
, pp. 512-518
-
-
Thomas, J.1
Leclere, J.2
Hartemann, P.3
Duheille, J.4
Orgiazzi, J.5
Petersen, M.6
Janot, C.7
Guedenet, J.8
-
2
-
-
34548182865
-
Thyroid-stimulating hormone receptor mutation
-
De Groot LJ, Jameson JL eds, Philadelphia, PA, p
-
Vassart G 2006 Thyroid-stimulating hormone receptor mutation. In: De Groot LJ, Jameson JL (eds) Endocrinology. Elsevier Saunders, Philadelphia, PA, p 2191.
-
(2006)
Endocrinology. Elsevier Saunders
, pp. 2191
-
-
Vassart, G.1
-
3
-
-
0034853605
-
The first activating TSH receptor mutation in transmembrane domain 1 identified in a family with nonautoimmune hyperthyroidism
-
Biebermann H, Schoneberg T, Hess C, Germak J, Gudermann T, Gruters A 2001 The first activating TSH receptor mutation in transmembrane domain 1 identified in a family with nonautoimmune hyperthyroidism. J Clin Endocrinol Metab 86:4429-4433.
-
(2001)
J Clin Endocrinol Metab
, vol.86
, pp. 4429-4433
-
-
Biebermann, H.1
Schoneberg, T.2
Hess, C.3
Germak, J.4
Gudermann, T.5
Gruters, A.6
-
4
-
-
0033312613
-
A germline mutation of the thyrotropin receptor gene associated with thyrotoxicosis and mitral valve prolapse in a Chinese family
-
Khoo DH, Parma J, Rajasoorya C, Ho SC, Vassart G 1999 A germline mutation of the thyrotropin receptor gene associated with thyrotoxicosis and mitral valve prolapse in a Chinese family. J Clin Endocrinol Metab 84:1459-1462.
-
(1999)
J Clin Endocrinol Metab
, vol.84
, pp. 1459-1462
-
-
Khoo, D.H.1
Parma, J.2
Rajasoorya, C.3
Ho, S.C.4
Vassart, G.5
-
5
-
-
0034852079
-
A novel germline mutation in the TSH receptor gene causes non-autoimmune autosomal dominant hyperthyroidism
-
Alberti L, Proverbio MC, Costagliola S, Weber G, Beck-Peccoz P, Chiumello G, Persani L 2001 A novel germline mutation in the TSH receptor gene causes non-autoimmune autosomal dominant hyperthyroidism. Eur J Endocrinol 145:249-254.
-
(2001)
Eur J Endocrinol
, vol.145
, pp. 249-254
-
-
Alberti, L.1
Proverbio, M.C.2
Costagliola, S.3
Weber, G.4
Beck-Peccoz, P.5
Chiumello, G.6
Persani, L.7
-
6
-
-
0033747056
-
Constitutively activating TSH-receptor mutations as a molecular cause of non-autoimmune hyperthyroidism in childhood
-
Biebermann H, Schoneberg T, Krude H, Gudermann T, Gruters A 2000 Constitutively activating TSH-receptor mutations as a molecular cause of non-autoimmune hyperthyroidism in childhood. Langenbecks Arch Surg 385:390-392.
-
(2000)
Langenbecks Arch Surg
, vol.385
, pp. 390-392
-
-
Biebermann, H.1
Schoneberg, T.2
Krude, H.3
Gudermann, T.4
Gruters, A.5
-
7
-
-
0029973239
-
A neomutation of the thyroid-stimulating hormone receptor in a severe neonatal hyperthyroidism
-
de Roux N, Polak M, Couet J, Leger J, Czernichow P, Milgrom E, Misrahi M 1996 A neomutation of the thyroid-stimulating hormone receptor in a severe neonatal hyperthyroidism. J Clin Endocrinol Metab 81:2023-2026.
-
(1996)
J Clin Endocrinol Metab
, vol.81
, pp. 2023-2026
-
-
de Roux, N.1
Polak, M.2
Couet, J.3
Leger, J.4
Czernichow, P.5
Milgrom, E.6
Misrahi, M.7
-
8
-
-
0028240982
-
Germline mutations in the thyrotropin receptor gene cause non-autoimmune autosomal dominant hyperthyroidism
-
Duprez L, Parma J, Van Sande J, Allgeier A, Leclère J, Schvartz C, Delisle MJ, Decoulx M, Orgiazzi J, Dumont J, Vassart G 1994 Germline mutations in the thyrotropin receptor gene cause non-autoimmune autosomal dominant hyperthyroidism. Nat Genet 7:396-401.
-
(1994)
Nat Genet
, vol.7
, pp. 396-401
-
-
Duprez, L.1
Parma, J.2
Van Sande, J.3
Allgeier, A.4
Leclère, J.5
Schvartz, C.6
Delisle, M.J.7
Decoulx, M.8
Orgiazzi, J.9
Dumont, J.10
Vassart, G.11
-
9
-
-
0032751937
-
A novel thyrotropin receptor mutation in an infant with severe thyrotoxicosis
-
Esapa CT, Duprez L, Ludgate M, Mustafa MS, Kendall-Taylor P, Vassart G, Harris PE 1999 A novel thyrotropin receptor mutation in an infant with severe thyrotoxicosis. Thyroid 9:1005-1010.
-
(1999)
Thyroid
, vol.9
, pp. 1005-1010
-
-
Esapa, C.T.1
Duprez, L.2
Ludgate, M.3
Mustafa, M.S.4
Kendall-Taylor, P.5
Vassart, G.6
Harris, P.E.7
-
10
-
-
0030734932
-
Identification of a new thyrotropin receptor germline mutation (Leu629Phe) in a family with neonatal onset of autosomal dominant nonautoimmune hyperthyroidism
-
Fuhrer D, Wonerow P, Willgerodt H, Paschke R 1997 Identification of a new thyrotropin receptor germline mutation (Leu629Phe) in a family with neonatal onset of autosomal dominant nonautoimmune hyperthyroidism. J Clin Endocrinol Metab 82:4234-4238.
-
(1997)
J Clin Endocrinol Metab
, vol.82
, pp. 4234-4238
-
-
Fuhrer, D.1
Wonerow, P.2
Willgerodt, H.3
Paschke, R.4
-
11
-
-
0031763701
-
Autosomal dominant nonautoimmune hyperthyroidism. Clinical features-diagnosis-therapy
-
Fuhrer D, Mix M, Willgerodt H, Holzapfel HP, Von Petrykowski W, Wonerow P, Paschke R 1998 Autosomal dominant nonautoimmune hyperthyroidism. Clinical features-diagnosis-therapy. Exp Clin Endocrinol Diabetes 106:S10-S15.
-
(1998)
Exp Clin Endocrinol Diabetes
, vol.106
-
-
Fuhrer, D.1
Mix, M.2
Willgerodt, H.3
Holzapfel, H.P.4
Von Petrykowski, W.5
Wonerow, P.6
Paschke, R.7
-
12
-
-
0034505679
-
Novel TSHR germline mutation (Met463Val) masquerading as Graves' disease in a large Welsh kindred with hyperthyroidism
-
Fuhrer D, Warner J, Sequeira M, Paschke R, Gregory J, Ludgate M 2000 Novel TSHR germline mutation (Met463Val) masquerading as Graves' disease in a large Welsh kindred with hyperthyroidism. Thyroid 10:1035-1041.
-
(2000)
Thyroid
, vol.10
, pp. 1035-1041
-
-
Fuhrer, D.1
Warner, J.2
Sequeira, M.3
Paschke, R.4
Gregory, J.5
Ludgate, M.6
-
13
-
-
0031772403
-
Severe congenital hyperthyroidism caused by a germ-line neo mutation in the extracellular portion of the thyrotropin receptor
-
Gruters A, Schoneberg T, Biebermann H, Krude H, Krohn HP, Dralle H, Gudermann T 1998 Severe congenital hyperthyroidism caused by a germ-line neo mutation in the extracellular portion of the thyrotropin receptor. J Clin Endocrinol Metab 83:1431-1436.
-
(1998)
J Clin Endocrinol Metab
, vol.83
, pp. 1431-1436
-
-
Gruters, A.1
Schoneberg, T.2
Biebermann, H.3
Krude, H.4
Krohn, H.P.5
Dralle, H.6
Gudermann, T.7
-
14
-
-
0030715694
-
Sporadic congenital hyperthyroidism due to a spontaneous germline mutation in the thyrotropin receptor gene
-
Holzapfel H, Wonerow P, von Petrykowski W, Henschen M, Scherbaum W, Paschke R 1997 Sporadic congenital hyperthyroidism due to a spontaneous germline mutation in the thyrotropin receptor gene. J Clin Endocrinol Metab 82:3879-3884.
-
(1997)
J Clin Endocrinol Metab
, vol.82
, pp. 3879-3884
-
-
Holzapfel, H.1
Wonerow, P.2
von Petrykowski, W.3
Henschen, M.4
Scherbaum, W.5
Paschke, R.6
-
15
-
-
0028891649
-
Brief report: Congenital hyperthyroidism caused by a mutation in the thyrotropin-receptor gene
-
Kopp P, van Sande J, Parma J, Duprez L, Gerber H, Joss E, Jameson JL, Dumont JE, Vassart G 1995 Brief report: congenital hyperthyroidism caused by a mutation in the thyrotropin-receptor gene. N Engl J Med 332:150-154.
-
(1995)
N Engl J Med
, vol.332
, pp. 150-154
-
-
Kopp, P.1
van Sande, J.2
Parma, J.3
Duprez, L.4
Gerber, H.5
Joss, E.6
Jameson, J.L.7
Dumont, J.E.8
Vassart, G.9
-
16
-
-
0032891212
-
Long-term follow-up of an infant with thyrotoxicosis due to germline mutation of the TSH receptor gene (Met453Thr)
-
Lavard L, Sehested A, Brock Jacobsen B, Muller J, Perrild H, Feldt-Rasmussen U, Parma J, Vassart G 1998 Long-term follow-up of an infant with thyrotoxicosis due to germline mutation of the TSH receptor gene (Met453Thr). Horm Res 51:43-46.
-
(1998)
Horm Res
, vol.51
, pp. 43-46
-
-
Lavard, L.1
Sehested, A.2
Brock Jacobsen, B.3
Muller, J.4
Perrild, H.5
Feldt-Rasmussen, U.6
Parma, J.7
Vassart, G.8
-
17
-
-
0036002619
-
An activating mutation of the thyrotropin receptor gene in hereditary non-autoimmune hyperthyroidism
-
Lee Y, Poh L, Loke K 2002 An activating mutation of the thyrotropin receptor gene in hereditary non-autoimmune hyperthyroidism. J Pediatr Endocrinol Metab 15:211-215.
-
(2002)
J Pediatr Endocrinol Metab
, vol.15
, pp. 211-215
-
-
Lee, Y.1
Poh, L.2
Loke, K.3
-
18
-
-
0029857517
-
Mutations of the TSH receptor as cause of congenital hyperthyroidism
-
Schwab K, Sohlemann P, Gerlich M, Broecker M, Petrykowski W, Holzapfe LH, Paschke R, Grüters A, Derwahl M 1996 Mutations of the TSH receptor as cause of congenital hyperthyroidism. Exp Clin Endocrinol Diabetes 104 Suppl 4:124-128.
-
(1996)
Exp Clin Endocrinol Diabetes
, vol.104
, Issue.SUPPL. 4
, pp. 124-128
-
-
Schwab, K.1
Sohlemann, P.2
Gerlich, M.3
Broecker, M.4
Petrykowski, W.5
Holzapfe, L.H.6
Paschke, R.7
Grüters, A.8
Derwahl, M.9
-
19
-
-
9044240477
-
Functional characteristics of three new germline mutations of the thyrotropin receptor gene causing autosomal dominant toxic thyroid hyperplasia
-
Tonacchera M, Van Sande J, Cetani F, Swillens S, Schvartz C, Winiszewski P, Portmann L, Dumont JE, Vassart G, Parma J 1996 Functional characteristics of three new germline mutations of the thyrotropin receptor gene causing autosomal dominant toxic thyroid hyperplasia. J Clin Endocrinol Metab 81:547-554.
-
(1996)
J Clin Endocrinol Metab
, vol.81
, pp. 547-554
-
-
Tonacchera, M.1
Van Sande, J.2
Cetani, F.3
Swillens, S.4
Schvartz, C.5
Winiszewski, P.6
Portmann, L.7
Dumont, J.E.8
Vassart, G.9
Parma, J.10
-
20
-
-
0033773141
-
Sporadic nonautoimmune congenital hyperthyroidism due to a strong activating mutation of the thyrotropin receptor gene
-
Tonacchera M, Agretti P, Rosellini V, Ceccarini G, Perri A, Zampolli M, Longhi R, Larizza D, Pinchera A, Vitti P, Chiovato L 2000 Sporadic nonautoimmune congenital hyperthyroidism due to a strong activating mutation of the thyrotropin receptor gene. Thyroid 10:859-863.
-
(2000)
Thyroid
, vol.10
, pp. 859-863
-
-
Tonacchera, M.1
Agretti, P.2
Rosellini, V.3
Ceccarini, G.4
Perri, A.5
Zampolli, M.6
Longhi, R.7
Larizza, D.8
Pinchera, A.9
Vitti, P.10
Chiovato, L.11
-
21
-
-
2942724248
-
Premature birth and low birth weight associated with nonautoimmune hyperthyroidism due to an activating thyrotropin receptor gene mutation
-
Vaidya B, Campbell V, Tripp JH, Spyer G, Hattersley AT, Ellard S 2004 Premature birth and low birth weight associated with nonautoimmune hyperthyroidism due to an activating thyrotropin receptor gene mutation. Clin Endocrinol (Oxf) 60:711-718.
-
(2004)
Clin Endocrinol (Oxf)
, vol.60
, pp. 711-718
-
-
Vaidya, B.1
Campbell, V.2
Tripp, J.H.3
Spyer, G.4
Hattersley, A.T.5
Ellard, S.6
-
22
-
-
0036733847
-
Similarities and differences in the phenotype of members of an Italian family with hereditary non-autoimmune hyperthyroidism associated with an activating TSH receptor germline mutation
-
Arturi F, Chiefari E, Tumino S, Russo D, Squatrito S, Chazenbalk G, Persani L, Rapoport B, Filetti S 2002 Similarities and differences in the phenotype of members of an Italian family with hereditary non-autoimmune hyperthyroidism associated with an activating TSH receptor germline mutation. J Endocrinol Invest 25:696-701.
-
(2002)
J Endocrinol Invest
, vol.25
, pp. 696-701
-
-
Arturi, F.1
Chiefari, E.2
Tumino, S.3
Russo, D.4
Squatrito, S.5
Chazenbalk, G.6
Persani, L.7
Rapoport, B.8
Filetti, S.9
-
23
-
-
33745212044
-
A novel activating mutation in transmembrane helix 6 of the thyrotropin receptor as cause of hereditary nonautoimmune hyperthyroidism
-
Nwosu B, Gourgiotis L, Gershengorn M, Neumann S 2006 A novel activating mutation in transmembrane helix 6 of the thyrotropin receptor as cause of hereditary nonautoimmune hyperthyroidism. Thyroid 16:505-512.
-
(2006)
Thyroid
, vol.16
, pp. 505-512
-
-
Nwosu, B.1
Gourgiotis, L.2
Gershengorn, M.3
Neumann, S.4
-
24
-
-
0036312956
-
Expression of Gas proteins and TSH receptor signalling in hyperfunctioning thyroid nodules with TSH receptor mutations
-
Holzapfel H, Bergner B, Wonerow P, Paschke R 2002 Expression of Gas proteins and TSH receptor signalling in hyperfunctioning thyroid nodules with TSH receptor mutations. Eur J Endocrinol 147:109-116.
-
(2002)
Eur J Endocrinol
, vol.147
, pp. 109-116
-
-
Holzapfel, H.1
Bergner, B.2
Wonerow, P.3
Paschke, R.4
-
25
-
-
0029664322
-
Constitutive activation of the Gs alpha protein-adenylate cyclase pathway may not be sufficient to generate toxic thyroid adenomas
-
Derwahl M, Hamacher C, Russo D, Broecker M, Manole D, Schatz H, Kopp P, Filetti S 1996 Constitutive activation of the Gs alpha protein-adenylate cyclase pathway may not be sufficient to generate toxic thyroid adenomas. J Clin Endocrinol Metab 81:1898-1904.
-
(1996)
J Clin Endocrinol Metab
, vol.81
, pp. 1898-1904
-
-
Derwahl, M.1
Hamacher, C.2
Russo, D.3
Broecker, M.4
Manole, D.5
Schatz, H.6
Kopp, P.7
Filetti, S.8
-
27
-
-
0038293293
-
Thyrotropin receptor mutations and thyroid hyperfunctioning adenomas ten years after their first discovery: Unresolved questions
-
Arturi F, Scarpelli D, Coco A, Sacco R, Bruno R, Filetti S, Russo D 2003 Thyrotropin receptor mutations and thyroid hyperfunctioning adenomas ten years after their first discovery: unresolved questions. Thyroid 13:341-343.
-
(2003)
Thyroid
, vol.13
, pp. 341-343
-
-
Arturi, F.1
Scarpelli, D.2
Coco, A.3
Sacco, R.4
Bruno, R.5
Filetti, S.6
Russo, D.7
-
29
-
-
0029856190
-
Longitudinal study on goiter prevalence and goitrogen factors in northeastern Sicily
-
Regalbuto C, Squatrito S, La Rosa GL, Cercabene G, Ippolito A, Tita P, Salamone S, Vigneri R 1996 Longitudinal study on goiter prevalence and goitrogen factors in northeastern Sicily. J Endocrinol Invest 19:638-645.
-
(1996)
J Endocrinol Invest
, vol.19
, pp. 638-645
-
-
Regalbuto, C.1
Squatrito, S.2
La Rosa, G.L.3
Cercabene, G.4
Ippolito, A.5
Tita, P.6
Salamone, S.7
Vigneri, R.8
|