-
1
-
-
0034844004
-
The TSH receptor and its role in thyroid disease
-
Kopp P. The TSH receptor and its role in thyroid disease. Cell Mol Life Sci. 2001;58:1301-1322.
-
(2001)
Cell Mol Life Sci.
, vol.58
, pp. 1301-1322
-
-
Kopp, P.1
-
2
-
-
78650293544
-
Sporadic nonautoimmune neonatal hyperthyroidism due to A623V germline mutation in the thyrotropin receptor gene
-
Aycan Z, A∂́ladýo∂́lu SY, Ceylaner S, Cetinkaya S, Bap VN, Kendirici HN. Sporadic nonautoimmune neonatal hyperthyroidism due to A623V germline mutation in the thyrotropin receptor gene. J Clin Res Pediatr Endocrinol. 2010;2:168-172.
-
(2010)
J Clin Res Pediatr Endocrinol.
, vol.2
, pp. 168-172
-
-
Aycan, Z.1
Aladýolu, S.Y.2
Ceylaner, S.3
Cetinkaya, S.4
Bap, V.N.5
Kendirici, H.N.6
-
3
-
-
46049092788
-
Congenital neonatal hyperthyroidism caused by germline mutations in the TSH receptor gene
-
Chester J, Rotenstein D, Ringkananont U, et al. Congenital neonatal hyperthyroidism caused by germline mutations in the TSH receptor gene. J Pediatr Endocrinol Metab. 2008;21:479-486.
-
(2008)
J Pediatr Endocrinol Metab.
, vol.21
, pp. 479-486
-
-
Chester, J.1
Rotenstein, D.2
Ringkananont, U.3
-
4
-
-
0032437928
-
Hyperthyroidism in early infancy: Pathogenesis, clinical features and diagnosis with a focus on neonatal hyperthyroidism
-
Polak M. Hyperthyroidism in early infancy: pathogenesis, clinical features and diagnosis with a focus on neonatal hyperthyroidism. Thyroid. 1998;8:1171-1177.
-
(1998)
Thyroid.
, vol.8
, pp. 1171-1177
-
-
Polak, M.1
-
5
-
-
58149375164
-
Persistent neonatal thyrotoxicosis in a neonate secondary to a rare thyroid-stimulating hormone receptor activating mutation: Case report and literature review
-
Watkins MG, Dejkhamron P, Huo J, Vazquez DM, Menon RK. Persistent neonatal thyrotoxicosis in a neonate secondary to a rare thyroid-stimulating hormone receptor activating mutation: case report and literature review. Endocr Pract. 2008;14:479-483.
-
(2008)
Endocr Pract.
, vol.14
, pp. 479-483
-
-
Watkins, M.G.1
Dejkhamron, P.2
Huo, J.3
Vazquez, D.M.4
Menon, R.K.5
-
6
-
-
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, et al. Germline mutations in the thyrotropin receptor gene cause non-autoimmune autosomal dominant hyperthyroidism. Nat Genet. 1994;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
-
7
-
-
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. Sporadic nonautoimmune congenital hyperthyroidism due to a strong activating mutation of the thyrotropin receptor gene. Thyroid. 2000;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
-
8
-
-
27844605058
-
Long-term carbimazole treatment of neonatal nonautoimmune hyperthyroidism due to a new activating TSH receptor gene mutation (Ala428Val)
-
Bö rgel K, Pohlenz J, Koch HG, Bramswig JH. Long-term carbimazole treatment of neonatal nonautoimmune hyperthyroidism due to a new activating TSH receptor gene mutation (Ala428Val). Horm Res. 2005;64:203-208.
-
(2005)
Horm Res.
, vol.64
, pp. 203-208
-
-
Börgel, K.1
Pohlenz, J.2
Koch, H.G.3
Bramswig, J.H.4
-
9
-
-
23844467711
-
TSH receptor mutation V509A causes familial hyperthyroidism by release of interhelical constraints between transmembrane helices TMH3 and TMH5
-
Karges B, Krause G, Homoki J, Debatin KM, de Roux N, Karges W. TSH receptor mutation V509A causes familial hyperthyroidism by release of interhelical constraints between transmembrane helices TMH3 and TMH5. J Endocrinol. 2005;186:377-385.
-
(2005)
J Endocrinol.
, vol.186
, pp. 377-385
-
-
Karges, B.1
Krause, G.2
Homoki, J.3
Debatin, K.M.4
De Roux, N.5
Karges, W.6
-
10
-
-
26944450868
-
Novel thyrotropin receptor germline mutation (Ile568Val) in a Saxonian family with hereditary nonautoimmune hyperthyroidism
-
Claus M, Maier J, Paschke R, Kujat C, Stumvoll M, Fü hrer D. Novel thyrotropin receptor germline mutation (Ile568Val) in a Saxonian family with hereditary nonautoimmune hyperthyroidism. Thyroid. 2005;15:1089-1094.
-
(2005)
Thyroid.
, vol.15
, pp. 1089-1094
-
-
Claus, M.1
Maier, J.2
Paschke, R.3
Kujat, C.4
Stumvoll, M.5
Führer, D.6
-
11
-
-
23844450115
-
Autosomal-dominant non-autoimmune hyperthyroidism presenting with neuromuscular symptoms
-
Elgadi A, Arvidsson CG, Janson A, Marcus C, Costagliola S, Norgren S. Autosomal-dominant non-autoimmune hyperthyroidism presenting with neuromuscular symptoms. Acta Paediatr. 2005;94: 1145-1148.
-
(2005)
Acta Paediatr.
, vol.94
, pp. 1145-1148
-
-
Elgadi, A.1
Arvidsson, C.G.2
Janson, A.3
Marcus, C.4
Costagliola, S.5
Norgren, S.6
-
12
-
-
0034853605
-
The first activating TSH receptor mutation in transmembrane domain 1 identified in a family with nonautoimmune hyperthyroidism
-
Biebermann H, Schö neberg T, Hess C, Germak J, Gudermann T, Grü ters A. The first activating TSH receptor mutation in transmembrane domain 1 identified in a family with nonautoimmune hyperthyroidism. J Clin Endocrinol Metab. 2001;86:4429-4433.
-
(2001)
J Clin Endocrinol Metab.
, vol.86
, pp. 4429-4433
-
-
Biebermann, H.1
Schöneberg, T.2
Hess, C.3
Germak, J.4
Gudermann, T.5
Grüters, A.6
-
13
-
-
33745212044
-
A novel activating mutation in transmembrane helix 6 of the thyrotropin receptor as cause of hereditary nonautoimmune hyperthyroidism
-
Nwosu BU, Gourgiotis L, Gershengorn MC, Neumann S. A novel activating mutation in transmembrane helix 6 of the thyrotropin receptor as cause of hereditary nonautoimmune hyperthyroidism. Thyroid. 2006;16:505-512.
-
(2006)
Thyroid.
, vol.16
, pp. 505-512
-
-
Nwosu, B.U.1
Gourgiotis, L.2
Gershengorn, M.C.3
Neumann, S.4
-
14
-
-
33845249139
-
Subclinical hyperthyroidism due to a thyrotropin receptor (TSHR) gene mutation (S505R)
-
Pohlenz J, Pfarr N, Krü ger S, Hesse V. Subclinical hyperthyroidism due to a thyrotropin receptor (TSHR) gene mutation (S505R). Acta Paediatr. 2006;95:1685-1687.
-
(2006)
Acta Paediatr.
, vol.95
, pp. 1685-1687
-
-
Pohlenz, J.1
Pfarr, N.2
Krüger, S.3
Hesse, V.4
-
15
-
-
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, et al. Functional characteristics of three new germline mutations of the thyrotropin receptor gene causing autosomal dominant toxic thyroid hyperplasia. J Clin Endocrinol Metab. 1996;81:547-554.
-
(1996)
J Clin Endocrinol Metab.
, vol.81
, pp. 547-554
-
-
Tonacchera, M.1
Van Sande, J.2
Cetani, F.3
-
16
-
-
46749139052
-
Multiple relapses of hyperthyroidism after thyroid surgeries in a patient with long term follow-up of sporadic non-autoimmune hyperthyroidism
-
Bircan R, Miehle K, Mladenova G, et al. Multiple relapses of hyperthyroidism after thyroid surgeries in a patient with long term follow-up of sporadic non-autoimmune hyperthyroidism. Exp Clin Endocrinol Diabetes. 2008;116:341-346.
-
(2008)
Exp Clin Endocrinol Diabetes.
, vol.116
, pp. 341-346
-
-
Bircan, R.1
Miehle, K.2
Mladenova, G.3
-
17
-
-
82355188204
-
Developmental and cell-specific expression of thyroid hormone transporters in the mouse cochlea
-
Sharlin DS, Visser TJ, Forrest D. Developmental and cell-specific expression of thyroid hormone transporters in the mouse cochlea. Endocrinology. 2011;152:5053-5064.
-
(2011)
Endocrinology.
, vol.152
, pp. 5053-5064
-
-
Sharlin, D.S.1
Visser, T.J.2
Forrest, D.3
-
18
-
-
0030218145
-
Thyroxine affects physiological and morphological development of the ear
-
Freeman S, Cherny L, Sohmer H. Thyroxine affects physiological and morphological development of the ear. Hear Res. 1996;97: 19-29.
-
(1996)
Hear Res.
, vol.97
, pp. 19-29
-
-
Freeman, S.1
Cherny, L.2
Sohmer, H.3
-
19
-
-
84873619501
-
Dehiscent jugular bulb
-
Hoeffner EG, Mukherji SK, Gandhi D, Gomez-Hassan D, Guchar S, Ibrahim M, Parmar H, eds. New York, NY: Thieme Medical Publishers, Inc
-
Gujar S. Dehiscent jugular bulb. In: Hoeffner EG, Mukherji SK, Gandhi D, Gomez-Hassan D, Guchar S, Ibrahim M, Parmar H, eds. Temporal Bone Imaging. New York, NY: Thieme Medical Publishers, Inc.; 2008:61-62.
-
(2008)
Temporal Bone Imaging
, pp. 61-62
-
-
Gujar, S.1
|