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Results: 1 to 20 of 106

1.

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
[PubMed - indexed for MEDLINE]
2.

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
[PubMed - indexed for MEDLINE]
3.

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
[PubMed - indexed for MEDLINE]
4.

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.

PMID:
20929407
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

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
[PubMed - indexed for MEDLINE]
6.

Molecular description of non-autoimmune hyperthyroidism at a neonate caused by a new thyrotropin receptor germline mutation.

Biebermann H, Winkler F, Handke D, Grüters A, Krude H, Kleinau G.

Thyroid Res. 2011 Aug 3;4 Suppl 1:S8. doi: 10.1186/1756-6614-4-S1-S8.

PMID:
21835055
[PubMed]
Free PMC Article
7.

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
[PubMed - indexed for MEDLINE]
8.

New pathogenic thyrotropin receptor mutations decipher differentiated activity switching at a conserved helix 6 motif of family A GPCR.

Biebermann H, Winkler F, Handke D, Teichmann A, Gerling B, Cameron F, Eichhorst J, Grüters A, Wiesner B, Kühnen P, Krude H, Kleinau G.

J Clin Endocrinol Metab. 2012 Feb;97(2):E228-32. doi: 10.1210/jc.2011-2106. Epub 2011 Nov 23.

PMID:
22112806
[PubMed - indexed for MEDLINE]
9.

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.

Thyroid. 2006 May;16(5):505-12.

PMID:
16756474
[PubMed - indexed for MEDLINE]
10.

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
[PubMed - in process]
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
[PubMed - indexed for MEDLINE]
12.

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
[PubMed - indexed for MEDLINE]
13.

Hyperthyroidism caused by a germline activating mutation of the thyrotropin receptor gene: difficulties in diagnosis and therapy.

Bertalan R, Sallai A, Sólyom J, Lotz G, Szabó I, Kovács B, Szabó E, Patócs A, Rácz K.

Thyroid. 2010 Mar;20(3):327-32. doi: 10.1089/thy.2009.0182.

PMID:
20146656
[PubMed - indexed for MEDLINE]
14.

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.

PMID:
21274318
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Long-term carbimazole treatment of neonatal nonautoimmune hyperthyroidism due to a new activating TSH receptor gene mutation (Ala428Val).

Börgel K, Pohlenz J, Koch HG, Bramswig JH.

Horm Res. 2005;64(4):203-8. Epub 2005 Oct 4.

PMID:
16260895
[PubMed - indexed for MEDLINE]
16.

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
[PubMed - indexed for MEDLINE]
17.

Constitutive activation of the thyroid-stimulating hormone receptor (TSHR) by mutating Ile691 in the cytoplasmic tail segment.

Liu Z, Fan F, Xiao X, Sun Y.

PLoS One. 2011 Jan 21;6(1):e16335. doi: 10.1371/journal.pone.0016335.

PMID:
21283701
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

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.

PMID:
18025759
[PubMed - indexed for MEDLINE]
Free Article
19.
20.

A new silent germline mutation of the TSH receptor: coexpression in a hyperthyroid family member with a second activating somatic mutation.

Gozu HI, Mueller S, Bircan R, Krohn K, Ekinci G, Yavuzer D, Sargin H, Sargin M, Ones T, Gezen C, Orbay E, Cirakoglu B, Paschke R.

Thyroid. 2008 May;18(5):499-508. doi: 10.1089/thy.2007.0335.

PMID:
18466076
[PubMed - indexed for MEDLINE]
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