-
1
-
-
0030994365
-
Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland
-
Abramowicz, M. J., Duprez, L., Parma, J., Vassart, G., Heinrichs, C. 1997. Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland. Journal of Clinical Investigation 99: 3018-3024.
-
(1997)
Journal of Clinical Investigation
, vol.99
, pp. 3018-3024
-
-
Abramowicz, M.J.1
Duprez, L.2
Parma, J.3
Vassart, G.4
Heinrichs, C.5
-
2
-
-
18444389956
-
Germline mutations of TSH Receptor gene as a cause of nonautoimmune subclinical hypothyroidism
-
Alberti, L., Proverbio, M. C., Costagliola, S., Romoli, R., Boldrighini, B., Vigone, M. C., Weber, G., Chiumello, G., Beck-Peccoz, P., Persani, L. 2002. Germline mutations of TSH Receptor gene as a cause of nonautoimmune subclinical hypothyroidism Journal of Clinical Endocrinolog y and Metabolism 87 (6) : 2549-2555
-
(2002)
Journal of Clinical Endocrinolog y and Metabolism
, vol.87
, Issue.6
, pp. 2549-2555
-
-
Alberti, L.1
Proverbio, M.C.2
Costagliola, S.3
Romoli, R.4
Boldrighini, B.5
Vigone, M.C.6
Weber, G.7
Chiumello, G.8
Beck-Peccoz, P.9
Persani, L.10
-
3
-
-
12244262763
-
A Germline Single Nucleotide Polymorphism at the Intracellular Domain of the Human Thyrotropin Receptor Does Not Have a Major Effect on the Development of Graves' disease
-
Ban, Y., Greenberg, D. A., Concepcion, E. S., Tomer, Y. 2002. A Germline Single Nucleotide Polymorphism at the Intracellular Domain of the Human Thyrotropin Receptor Does Not Have a Major Effect on the Development of Graves' disease. Thyroid 12 (12) : 1079-1083.
-
(2002)
Thyroid
, vol.12
, Issue.12
, pp. 1079-1083
-
-
Ban, Y.1
Greenberg, D.A.2
Concepcion, E.S.3
Tomer, Y.4
-
4
-
-
0030983833
-
Mutations of the human thyrotropin receptor gene causing thyroid hypoplasia and persistent congenital hypothyroidism
-
Biebermann, H., Schoneberg, T., Krude, H., Schultz, G., Gudermann, T., Gruters, A. 1997. Mutations of the human thyrotropin receptor gene causing thyroid hypoplasia and persistent congenital hypothyroidism. Journal of Clinical Endocrinology and Metabolism 82: 3471-3480.
-
(1997)
Journal of Clinical Endocrinology and Metabolism
, vol.82
, pp. 3471-3480
-
-
Biebermann, H.1
Schoneberg, T.2
Krude, H.3
Schultz, G.4
Gudermann, T.5
Gruters, A.6
-
5
-
-
17944389189
-
Further studies of genetic susceptibility to Graves' disease in a Russian population
-
Chistiakov D. A., Savost'anov K. V., Turakulov R. I., Petunina N., Balabolkin M. I., Nosikov V. V. 2002. Further studies of genetic susceptibility to Graves' disease in a Russian population. Medical Science Monitor 8: 180-4.
-
(2002)
Medical Science Monitor
, vol.8
, pp. 180-184
-
-
Chistiakov, D.A.1
Savost'anov, K.V.2
Turakulov, R.I.3
Petunina, N.4
Balabolkin, M.I.5
Nosikov, V.V.6
-
6
-
-
0344924846
-
Thyroid-stimulating hormone receptor and its role in Graves' disease
-
Chistiakov, D. A. 2003. Thyroid-stimulating hormone receptor and its role in Graves' disease. Molecular Genetics and Metabolism 80: 377-388.
-
(2003)
Molecular Genetics and Metabolism
, vol.80
, pp. 377-388
-
-
Chistiakov, D.A.1
-
7
-
-
84902232469
-
-
Clifton-Bligh, R. J, Gregory, J. W, Ludgate, M, John, R, Persani, L, Asteria, C, Beck-Peccoz, P, Chatterjee, V. K
-
Clifton-Bligh, R. J., Gregory, J. W., Ludgate, M., John, R., Persani, L., Asteria, C., Beck-Peccoz, P., Chatterjee, V. K.
-
-
-
-
8
-
-
0030989828
-
Two novel mutations in the thyrotropin (TSH) receptor gene in a child with resistance to TSH
-
1997. Two novel mutations in the thyrotropin (TSH) receptor gene in a child with resistance to TSH. Journal of Clinical Endocrinology and Metabolism 82: 1094-1100.
-
(1997)
Journal of Clinical Endocrinology and Metabolism
, vol.82
, pp. 1094-1100
-
-
-
9
-
-
10544240361
-
Four families with loss of function mutations of the thyrotropin receptor
-
de Roux, N., Misrahi, M., Brauner, R., Houang, M., Carel, J. C., Granier, M., Le Bouc, Y., Ghinea, N., Boumedienne, A., Toublanc, J. E., Milgrom, E. 1996. Four families with loss of function mutations of the thyrotropin receptor. Journal of Clinical Endocrinology and Metabolism 81: 4229-4235.
-
(1996)
Journal of Clinical Endocrinology and Metabolism
, vol.81
, pp. 4229-4235
-
-
de Roux, N.1
Misrahi, M.2
Brauner, R.3
Houang, M.4
Carel, J.C.5
Granier, M.6
Le Bouc, Y.7
Ghinea, N.8
Boumedienne, A.9
Toublanc, J.E.10
Milgrom, E.11
-
10
-
-
0033305338
-
Germ line polymorphism of codon 727 of human thyroid-stimulating hormone receptor is associated with toxic multinodular goiter
-
Gabriel, E. M., Bergert, E. R., Grant C. S. Van Heerden, J. A., Thompson, G. B., Morris, J. C. 1999. Germ line polymorphism of codon 727 of human thyroid-stimulating hormone receptor is associated with toxic multinodular goiter. Journal of Clinical Endocrinology and Metabolism 84: 3328-3335.
-
(1999)
Journal of Clinical Endocrinology and Metabolism
, vol.84
, pp. 3328-3335
-
-
Gabriel, E.M.1
Bergert, E.R.2
Grant, C.S.3
Van Heerden, J.A.4
Thompson, G.B.5
Morris, J.C.6
-
11
-
-
84902232470
-
-
Gagne, N, Parma, J, Deal, C, Vassart, G, Van Vliet, G
-
Gagne, N., Parma, J., Deal, C., Vassart, G., Van Vliet, G.
-
-
-
-
12
-
-
0031755047
-
Apparent congenital athyreosis contrasting with normal plasma thyroglobulin levels and associated with inactivating mutations in the thyrotropin receptor gene: Are athyreosis and ectopic thyroid distinct entities?
-
1998. Apparent congenital athyreosis contrasting with normal plasma thyroglobulin levels and associated with inactivating mutations in the thyrotropin receptor gene: are athyreosis and ectopic thyroid distinct entities? Journal of Clinical Endocrinology and Metabolism 83: 1771-1775.
-
(1998)
Journal of Clinical Endocrinology and Metabolism
, vol.83
, pp. 1771-1775
-
-
-
13
-
-
0038506972
-
Association of Graves' Disease with Intragenic Polymorphism of the Thyrotropin Receptor Gene in a Cohort of Singapore Patients of Multi-Ethnic Origins
-
Ho, SC., Goh, S. S., Khoo, D. H. 2003. Association of Graves' Disease with Intragenic Polymorphism of the Thyrotropin Receptor Gene in a Cohort of Singapore Patients of Multi-Ethnic Origins. Thyroid 13 (6) : 523-528.
-
(2003)
Thyroid
, vol.13
, Issue.6
, pp. 523-528
-
-
Ho, S.C.1
Goh, S.S.2
Khoo, D.H.3
-
15
-
-
0037341985
-
The W546X mutation of the thyrotropin receptor gene: Potential major contributor to thyroid dysfunction in a Caucasian population
-
Jordan, N., Williams, N., Gregory, J. W., Evans, C., Owen, M., Ludgate, M. 2003. The W546X mutation of the thyrotropin receptor gene: potential major contributor to thyroid dysfunction in a Caucasian population. Journal of Clinical Endocrinology and Metabolism 88: 1002-1005.
-
(2003)
Journal of Clinical Endocrinology and Metabolism
, vol.88
, pp. 1002-1005
-
-
Jordan, N.1
Williams, N.2
Gregory, J.W.3
Evans, C.4
Owen, M.5
Ludgate, M.6
-
16
-
-
0034457053
-
Lack of association of non-autoimmune hyperfunctioning thyroid disorders and germline polymorphism of codon 727 of the human thyrotropin receptor in a European Caucasion population
-
Muhlberg, T., Herrmann, K., Joba, W., Kirchberger,. Heberling, H. J., Heufelder, A. E. 2000. Lack of association of non-autoimmune hyperfunctioning thyroid disorders and germline polymorphism of codon 727 of the human thyrotropin receptor in a European Caucasion population. Journal of Clinical Endocrinology and Metabolism 85: 2640-2643.
-
(2000)
Journal of Clinical Endocrinology and Metabolism
, vol.85
, pp. 2640-2643
-
-
Muhlberg, T.1
Herrmann, K.2
Joba, W.3
Kirchberger4
Heberling, H.J.5
Heufelder, A.E.6
-
17
-
-
65349185214
-
Molecular analysis of the thyroid stimulating hormone receptor gene in unrelated patients with congenital hypothyroidism
-
Musa, M., Harun, F., and Mat Junit, S. 2007 Molecular analysis of the thyroid stimulating hormone receptor gene in unrelated patients with congenital hypothyroidism. Malaysian Journal of Biochemistry and Molecular Biology 15: 8-18.
-
(2007)
Malaysian Journal of Biochemistry and Molecular Biology
, vol.15
, pp. 8-18
-
-
Musa, M.1
Harun, F.2
Mat Junit, S.3
-
18
-
-
0034948831
-
Novel inactivating missense mutations in the thyrotropin receptor gene in Japanese children with resistance to thyrotropin
-
Nagashima, T., Murakami, M., Onigata, K., Morimura, T., Nagashima, K., Mori, M., Morikawa, A. 2001. Novel inactivating missense mutations in the thyrotropin receptor gene in Japanese children with resistance to thyrotropin. Thyroid 11: 551-559.
-
(2001)
Thyroid
, vol.11
, pp. 551-559
-
-
Nagashima, T.1
Murakami, M.2
Onigata, K.3
Morimura, T.4
Nagashima, K.5
Mori, M.6
Morikawa, A.7
-
19
-
-
0032720242
-
Thyrotropin receptor mutations in hyperfunctioning thyroid adenomas from Brazil
-
Nogueira, C. R., Kopp, P., Arseven, O. K., Santos, C. L. S., Jameson, J. L., Medeiros-Neto, G. 1999. Thyrotropin receptor mutations in hyperfunctioning thyroid adenomas from Brazil. Thyroid 9: 1063-1068.
-
(1999)
Thyroid
, vol.9
, pp. 1063-1068
-
-
Nogueira, C.R.1
Kopp, P.2
Arseven, O.K.3
Santos, C.L.S.4
Jameson, J.L.5
Medeiros-Neto, G.6
-
20
-
-
84902232463
-
-
Onigata, K., Hattori, S., Yamada, S., Kowase, T., Takano, Y., Moriwaka, A., Nishiyama, S., Mizuno, H. 2003. The R450H mutation of the thyrotropin receptor gene is common in Japanese patients with resistance to thyrotropin. Proc 75th Annual Meeting of the American Thyroid Association, Palm Beach, FL, (Abstract 061). Thyroid 13: 689.
-
Onigata, K., Hattori, S., Yamada, S., Kowase, T., Takano, Y., Moriwaka, A., Nishiyama, S., Mizuno, H. 2003. The R450H mutation of the thyrotropin receptor gene is common in Japanese patients with resistance to thyrotropin. Proc 75th Annual Meeting of the American Thyroid Association, Palm Beach, FL, (Abstract 061). Thyroid 13: 689.
-
-
-
-
21
-
-
0028888593
-
Brief report: Resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene
-
Sunthornthepvarakul, T., Gottschalk, M. E., Hayashi, Y., Refetoff, S. 1995. Brief report: resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene. New England Journal of Medicine 332: 155-160.
-
(1995)
New England Journal of Medicine
, vol.332
, pp. 155-160
-
-
Sunthornthepvarakul, T.1
Gottschalk, M.E.2
Hayashi, Y.3
Refetoff, S.4
-
22
-
-
0036083401
-
Thyroid stimulating hormone and thyroid stimulating hormone receptor structure-function relationships
-
Szkudlinski, M. W., Fremont, V., Ronin, C., and Weintraub, BD. 2002. Thyroid stimulating hormone and thyroid stimulating hormone receptor structure-function relationships. Physiology Review 82: 473-502
-
(2002)
Physiology Review
, vol.82
, pp. 473-502
-
-
Szkudlinski, M.W.1
Fremont, V.2
Ronin, C.3
Weintraub, B.D.4
-
23
-
-
0032881333
-
The hypothyroidism in an inbred kindred with congenital thyroid hormone and glucocorticoid defciency is due to a mutation producing a truncated thyrotropin receptor
-
Tiosano, D., Pannain, S., Vassart, G., Parma, J., Gershoni- Baruch, R., Mandel, H., Lotan, R., Zaharan, Y., Pery, M., Weiss, R. E., Refetoff, S., Hochberg, Z. 1999. The hypothyroidism in an inbred kindred with congenital thyroid hormone and glucocorticoid defciency is due to a mutation producing a truncated thyrotropin receptor. Thyroid 9: 887-894.
-
(1999)
Thyroid
, vol.9
, pp. 887-894
-
-
Tiosano, D.1
Pannain, S.2
Vassart, G.3
Parma, J.4
Gershoni- Baruch, R.5
Mandel, H.6
Lotan, R.7
Zaharan, Y.8
Pery, M.9
Weiss, R.E.10
Refetoff, S.11
Hochberg, Z.12
-
24
-
-
0034454929
-
Congenital hypothyroidism with impaired thyroid response to thyrotropin (TSH) and absent circulating thyroglobulin: Evidence for a new inactivating mutation of the TSH receptor gene
-
Tonacchera, M., Agretti, P., Pinchera, A., Rosellini, V., Perri, A., Collecchi, P., Vitti, P., Chiovato, L. 2000. Congenital hypothyroidism with impaired thyroid response to thyrotropin (TSH) and absent circulating thyroglobulin: evidence for a new inactivating mutation of the TSH receptor gene. Journal of Clinical Endocrinology and Metabolism 85: 1001-1008.
-
(2000)
Journal of Clinical Endocrinology and Metabolism
, vol.85
, pp. 1001-1008
-
-
Tonacchera, M.1
Agretti, P.2
Pinchera, A.3
Rosellini, V.4
Perri, A.5
Collecchi, P.6
Vitti, P.7
Chiovato, L.8
-
25
-
-
0026968920
-
Comparison of epidemiological data on congenital hypothyroidism in Europe with those of other parts in the world
-
Toublanc, J. E. 1992. Comparison of epidemiological data on congenital hypothyroidism in Europe with those of other parts in the world. Hormone Research 138: 230-235
-
(1992)
Hormone Research
, vol.138
, pp. 230-235
-
-
Toublanc, J.E.1
-
26
-
-
0004805266
-
Thyroid function
-
Burtis, C. A, Ed, W. B. Saunders
-
Whitley, R. J. 1999. Thyroid function. In: Burtis, C. A. (Ed). Tietz Textbook of Clinical Chemistry. W. B. Saunders : 1496-1529.
-
(1999)
Tietz Textbook of Clinical Chemistry
, pp. 1496-1529
-
-
Whitley, R.J.1
|