195 related articles for article (PubMed ID: 10524567)
1. The hypothyroidism in an inbred kindred with congenital thyroid hormone and glucocorticoid deficiency 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 RE; Refetoff S; Hochberg Z
Thyroid; 1999 Sep; 9(9):887-94. PubMed ID: 10524567
[TBL] [Abstract][Full Text] [Related]
2. Congenital primary hypothyroidism in a turkish family caused by a homozygous nonsense mutation (R609X) in the thyrotropin receptor gene.
Richter-Unruh A; Hauffa BP; Pfarr N; Pohlenz J
Thyroid; 2004 Nov; 14(11):971-4. PubMed ID: 15671778
[TBL] [Abstract][Full Text] [Related]
3. Congenital hypothyroidism and apparent athyreosis with compound heterozygosity or compensated hypothyroidism with probable hemizygosity for inactivating mutations of the TSH receptor.
Park SM; Clifton-Bligh RJ; Betts P; Chatterjee VK
Clin Endocrinol (Oxf); 2004 Feb; 60(2):220-7. PubMed ID: 14725684
[TBL] [Abstract][Full Text] [Related]
4. Congenital secondary hypothyroidism due to a mutation C105Vfs114X thyrotropin-beta mutation: genetic study of five unrelated families from Switzerland and Argentina.
Deladoëy J; Vuissoz JM; Domené HM; Malik N; Gruneiro-Papendieck L; Chiesa A; Heinrich JJ; Mullis PE
Thyroid; 2003 Jun; 13(6):553-9. PubMed ID: 12930599
[TBL] [Abstract][Full Text] [Related]
5. Resistance to thyrotropin (TSH) in three families is not associated with mutations in the TSH receptor or TSH.
Xie J; Pannain S; Pohlenz J; Weiss RE; Moltz K; Morlot M; Asteria C; Persani L; Beck-Peccoz P; Parma J; Vassart G; Refetoff S
J Clin Endocrinol Metab; 1997 Dec; 82(12):3933-40. PubMed ID: 9398691
[TBL] [Abstract][Full Text] [Related]
6. 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
J Clin Endocrinol Metab; 2000 Mar; 85(3):1001-8. PubMed ID: 10720030
[TBL] [Abstract][Full Text] [Related]
7. Mild congenital primary hypothyroidism in a Turkish family caused by a homozygous missense thyrotropin receptor (TSHR) gene mutation (A593 V).
Fricke-Otto S; Pfarr N; Mühlenberg R; Pohlenz J
Exp Clin Endocrinol Diabetes; 2005 Dec; 113(10):582-5. PubMed ID: 16320156
[TBL] [Abstract][Full Text] [Related]
8. Structural analysis of the thyrotropin receptor in four patients with congenital hypothyroidism due to thyroid hypoplasia.
Nogueira CR; Nguyen LQ; Coelho-Neto JR; Arseven OK; Jameson JL; Kopp P; Medeiros-Neto GA
Thyroid; 1999 Jun; 9(6):523-9. PubMed ID: 10411113
[TBL] [Abstract][Full Text] [Related]
9. Mutations of the human thyrotropin receptor gene causing thyroid hypoplasia and persistent congenital hypothyroidism.
Biebermann H; Schöneberg T; Krude H; Schultz G; Gudermann T; Grüters A
J Clin Endocrinol Metab; 1997 Oct; 82(10):3471-80. PubMed ID: 9329388
[TBL] [Abstract][Full Text] [Related]
10. A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: evidence for phenotypic variability in mother and child.
Congdon T; Nguyen LQ; Nogueira CR; Habiby RL; Medeiros-Neto G; Kopp P
J Clin Endocrinol Metab; 2001 Aug; 86(8):3962-7. PubMed ID: 11502839
[TBL] [Abstract][Full Text] [Related]
11. Sequence analysis of the thyrotropin (TSH) receptor gene in congenital primary hypothyroidism associated with TSH unresponsiveness.
Takeshita A; Nagayama Y; Yamashita S; Takamatsu J; Ohsawa N; Maesaka H; Tachibana K; Tokuhiro E; Ashizawa K; Yokoyama N
Thyroid; 1994; 4(3):255-9. PubMed ID: 7833660
[TBL] [Abstract][Full Text] [Related]
12. Long-term outcome of loss-of-function mutations in thyrotropin receptor gene.
Tenenbaum-Rakover Y; Almashanu S; Hess O; Admoni O; Hag-Dahood Mahameed A; Schwartz N; Allon-Shalev S; Bercovich D; Refetoff S
Thyroid; 2015 Mar; 25(3):292-9. PubMed ID: 25557138
[TBL] [Abstract][Full Text] [Related]
13. Low TSH congenital hypothyroidism: identification of a novel mutation of the TSH beta-subunit gene in one sporadic case (C85R) and of mutation Q49stop in two siblings with congenital hypothyroidism.
Sertedaki A; Papadimitriou A; Voutetakis A; Dracopoulou M; Maniati-Christidi M; Dacou-Voutetakis C
Pediatr Res; 2002 Dec; 52(6):935-41. PubMed ID: 12438673
[TBL] [Abstract][Full Text] [Related]
14. A novel mutation in the thyrotropin (thyroid-stimulating hormone) receptor gene in a case of congenital hypothyroidism.
Jeziorowska A; Pniewska-Siark B; Brzeziańska E; Pastuszak-Lewandoska D; Lewiński A
Thyroid; 2006 Dec; 16(12):1303-9. PubMed ID: 17199441
[TBL] [Abstract][Full Text] [Related]
15. Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland.
Abramowicz MJ; Duprez L; Parma J; Vassart G; Heinrichs C
J Clin Invest; 1997 Jun; 99(12):3018-24. PubMed ID: 9185526
[TBL] [Abstract][Full Text] [Related]
16. Four new cases of congenital secondary hypothyroidism due to a splice site mutation in the thyrotropin-beta gene: phenotypic variability and founder effect.
Borck G; Topaloglu AK; Korsch E; Martiné U; Wildhardt G; Onenli-Mungan N; Yuksel B; Aumann U; Koch G; Ozer G; Pfäffle R; Scherberg NH; Refetoff S; Pohlenz J
J Clin Endocrinol Metab; 2004 Aug; 89(8):4136-41. PubMed ID: 15292359
[TBL] [Abstract][Full Text] [Related]
17. Thyrotropin receptor gene mutations and TSH resistance: variable expressivity in the heterozygotes.
Camilot M; Teofoli F; Gandini A; Franceschi R; Rapa A; Corrias A; Bona G; Radetti G; Tatò L
Clin Endocrinol (Oxf); 2005 Aug; 63(2):146-51. PubMed ID: 16060907
[TBL] [Abstract][Full Text] [Related]
18. A familial case of congenital hypothyroidism caused by a homozygous mutation of the thyrotropin receptor gene.
Bretones P; Duprez L; Parma J; David M; Vassart G; Rodien P
Thyroid; 2001 Oct; 11(10):977-80. PubMed ID: 11716047
[TBL] [Abstract][Full Text] [Related]
19. Germline mutations of TSH receptor gene as cause of nonautoimmune subclinical hypothyroidism.
Alberti L; Proverbio MC; Costagliola S; Romoli R; Boldrighini B; Vigone MC; Weber G; Chiumello G; Beck-Peccoz P; Persani L
J Clin Endocrinol Metab; 2002 Jun; 87(6):2549-55. PubMed ID: 12050212
[TBL] [Abstract][Full Text] [Related]
20. Functional studies of new TSH receptor (TSHr) mutations identified in patients affected by hypothyroidism or isolated hyperthyrotrophinaemia.
De Marco G; Agretti P; Camilot M; Teofoli F; Tatò L; Vitti P; Pinchera A; Tonacchera M
Clin Endocrinol (Oxf); 2009 Feb; 70(2):335-8. PubMed ID: 18727713
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
