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Items: 1 to 20 of 78

1.

A Japanese family with nonautoimmune hyperthyroidism caused by a novel heterozygous thyrotropin receptor gene mutation.

Nakamura A, Morikawa S, Aoyagi H, Ishizu K, Tajima T.

Pediatr Res. 2014 Jun;75(6):749-53. doi: 10.1038/pr.2014.34. Epub 2014 Mar 7.

PMID:
24608569
2.

A new phenotype of nongoitrous and nonautoimmune hyperthyroidism caused by a heterozygous thyrotropin receptor mutation in transmembrane helix 6.

Winkler F, Kleinau G, Tarnow P, Rediger A, Grohmann L, Gaetjens I, Krause G, L'Allemand D, Grüters A, Krude H, Biebermann H.

J Clin Endocrinol Metab. 2010 Aug;95(8):3605-10. doi: 10.1210/jc.2010-0112. Epub 2010 May 25.

PMID:
20501679
3.

The first activating TSH receptor mutation in transmembrane domain 1 identified in a family with nonautoimmune hyperthyroidism.

Biebermann H, Schöneberg T, Hess C, Germak J, Gudermann T, Grüters A.

J Clin Endocrinol Metab. 2001 Sep;86(9):4429-33.

PMID:
11549687
4.

Severe congenital hyperthyroidism caused by a germ-line neo mutation in the extracellular portion of the thyrotropin receptor.

Grüters A, Schöneberg T, Biebermann H, Krude H, Krohn HP, Dralle H, Gudermann T.

J Clin Endocrinol Metab. 1998 May;83(5):1431-6.

PMID:
9589634
5.

Novel thyrotropin receptor germline mutation (Ile568Val) in a Saxonian family with hereditary nonautoimmune hyperthyroidism.

Claus M, Maier J, Paschke R, Kujat C, Stumvoll M, Führer D.

Thyroid. 2005 Sep;15(9):1089-94.

PMID:
16187920
6.

Subclinical nonautoimmune hyperthyroidism in a family segregates with a thyrotropin receptor mutation with weakly increased constitutive activity.

Nishihara E, Chen CR, Higashiyama T, Mizutori-Sasai Y, Ito M, Kubota S, Amino N, Miyauchi A, Rapoport B.

Thyroid. 2010 Nov;20(11):1307-14. doi: 10.1089/thy.2010.0261. Epub 2010 Oct 7.

7.

Sporadic congenital hyperthyroidism due to a germline mutation in the thyrotropin receptor gene (Leu 512 Gln) in a Japanese patient.

Nishihara E, Fukata S, Hishinuma A, Kudo T, Ohye H, Ito M, Kubota S, Amino N, Kuma K, Miyauchi A.

Endocr J. 2006 Dec;53(6):735-40. Epub 2006 Sep 7.

8.

A newly discovered TSHR variant (L665F) associated with nonautoimmune hyperthyroidism in an Austrian family induces constitutive TSHR activation by steric repulsion between TM1 and TM7.

Jaeschke H, Schaarschmidt J, Eszlinger M, Huth S, Puttinger R, Rittinger O, Meiler J, Paschke R.

J Clin Endocrinol Metab. 2014 Oct;99(10):E2051-9. doi: 10.1210/jc.2014-1436. Epub 2014 Jun 20.

PMID:
24947036
9.

Sporadic nonautoimmune neonatal hyperthyroidism due to A623V germline mutation in the thyrotropin receptor gene.

Aycan Z, Ağladıoğlu SY, Ceylaner S, Cetinkaya S, Baş VN, Kendirici HN.

J Clin Res Pediatr Endocrinol. 2010;2(4):168-72. doi: 10.4274/jcrpe.v2i4.168. Epub 2010 Nov 7.

10.

Sporadic congenital nonautoimmune hyperthyroidism caused by P639S mutation in thyrotropin receptor gene.

Agretti P, De Marco G, Biagioni M, Iannilli A, Marigliano M, Pinchera A, Vitti P, Cherubini V, Tonacchera M.

Eur J Pediatr. 2012 Jul;171(7):1133-7. doi: 10.1007/s00431-012-1702-z. Epub 2012 Feb 28.

PMID:
22371259
11.

Identification of a new thyrotropin receptor germline mutation (Leu629Phe) in a family with neonatal onset of autosomal dominant nonautoimmune hyperthyroidism.

Führer D, Wonerow P, Willgerodt H, Paschke R.

J Clin Endocrinol Metab. 1997 Dec;82(12):4234-8. Review.

PMID:
9398746
12.

A novel thyrotropin receptor germline mutation (Asp617Tyr) causing hereditary hyperthyroidism.

Nishihara E, Nagayama Y, Amino N, Hishinuma A, Takano T, Yoshida H, Kubota S, Fukata S, Kuma K, Miyauchi A.

Endocr J. 2007 Dec;54(6):927-34. Epub 2007 Nov 16.

13.

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.

Clin Endocrinol (Oxf). 2004 Jun;60(6):711-8. Review.

PMID:
15163335
14.

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.

Eur J Endocrinol. 2001 Sep;145(3):249-54.

15.

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, et al.

Nat Genet. 1994 Jul;7(3):396-401.

PMID:
7920658
16.

Lack of in vitro constitutive activity for four previously reported TSH receptor mutations identified in patients with nonautoimmune hyperthyroidism and hot thyroid carcinomas.

Jaeschke H, Mueller S, Eszlinger M, Paschke R.

Clin Endocrinol (Oxf). 2010 Dec;73(6):815-20. doi: 10.1111/j.1365-2265.2010.03872.x.

PMID:
20846293
17.

A family with a novel TSH receptor activating germline mutation (p.Ala485Val).

Akcurin S, Turkkahraman D, Tysoe C, Ellard S, De Leener A, Vassart G, Costagliola S.

Eur J Pediatr. 2008 Nov;167(11):1231-7. doi: 10.1007/s00431-007-0659-9. Epub 2008 Jan 4.

PMID:
18175146
18.

Subclinical hyperthyroidism due to a thyrotropin receptor (TSHR) gene mutation (S505R).

Pohlenz J, Pfarr N, Krüger S, Hesse V.

Acta Paediatr. 2006 Dec;95(12):1685-7.

PMID:
17129985
19.

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.

Thyroid. 2000 Dec;10(12):1035-41.

PMID:
11201847
20.

Genetic hyperthyroidism: hyperthyroidism due to activating TSHR mutations.

Hébrant A, van Staveren WC, Maenhaut C, Dumont JE, Leclère J.

Eur J Endocrinol. 2011 Jan;164(1):1-9. doi: 10.1530/EJE-10-0775. Epub 2010 Oct 6. Review.

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