194 related articles for article (PubMed ID: 16187920)
1. 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. PubMed ID: 16187920
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 11201847
[TBL] [Abstract][Full Text] [Related]
3. 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. PubMed ID: 9398746
[TBL] [Abstract][Full Text] [Related]
4. 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. PubMed ID: 16756474
[TBL] [Abstract][Full Text] [Related]
5. 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. PubMed ID: 11549687
[TBL] [Abstract][Full Text] [Related]
6. A new case of familial nonautoimmune hyperthyroidism caused by the M463V mutation in the TSH receptor with anticipation of the disease across generations: a possible role of iodine supplementation.
Ferrara AM; Capalbo D; Rossi G; Capuano S; Del Prete G; Esposito V; Montesano G; Zampella E; Fenzi G; Salerno M; Macchia PE
Thyroid; 2007 Jul; 17(7):677-80. PubMed ID: 17696839
[TBL] [Abstract][Full Text] [Related]
7. 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. PubMed ID: 18025759
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 15163335
[TBL] [Abstract][Full Text] [Related]
9. 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. PubMed ID: 18466076
[TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 9589634
[TBL] [Abstract][Full Text] [Related]
11. Variable phenotype associated with Ser505Asn-activating thyrotropin-receptor germline mutation.
Führer D; Mix M; Wonerow P; Richter I; Willgerodt H; Paschke R
Thyroid; 1999 Aug; 9(8):757-61. PubMed ID: 10482366
[TBL] [Abstract][Full Text] [Related]
12. 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. PubMed ID: 20846293
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 20146656
[TBL] [Abstract][Full Text] [Related]
14. 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; Longhi R; Larizza D; Pinchera A; Vitti P; Chiovato L
Thyroid; 2000 Oct; 10(10):859-63. PubMed ID: 11081252
[TBL] [Abstract][Full Text] [Related]
15. 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. PubMed ID: 20929407
[TBL] [Abstract][Full Text] [Related]
16. 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. PubMed ID: 18175146
[TBL] [Abstract][Full Text] [Related]
17. Identification and functional characterization of two novel activating thyrotropin receptor mutants in toxic thyroid follicular adenomas.
Castro I; Lima L; Seoane R; Lado-Abeal J
Thyroid; 2009 Jun; 19(6):645-9. PubMed ID: 19499991
[TBL] [Abstract][Full Text] [Related]
18. 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. PubMed ID: 24947036
[TBL] [Abstract][Full Text] [Related]
19. Sporadic congenital hyperthyroidism due to a spontaneous germline mutation in the thyrotropin receptor gene.
Holzapfel HP; Wonerow P; von Petrykowski W; Henschen M; Scherbaum WA; Paschke R
J Clin Endocrinol Metab; 1997 Nov; 82(11):3879-84. PubMed ID: 9360555
[TBL] [Abstract][Full Text] [Related]
20. Shared sporadic and somatic thyrotropin receptor mutations display more active in vitro activities than familial thyrotropin receptor mutations.
Lueblinghoff J; Eszlinger M; Jaeschke H; Mueller S; Bircan R; Gozu H; Sancak S; Akalin S; Paschke R
Thyroid; 2011 Mar; 21(3):221-9. PubMed ID: 21190443
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
