BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

228 related articles for article (PubMed ID: 11201847)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 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. Late manifestation of subclinical hyperthyroidism after goitrogenesis in an index patient with a N670S TSH receptor germline mutation masquerading as TSH receptor antibody negative Graves' disease.
    Schaarschmidt J; Paschke S; Özerden M; Jäschke H; Huth S; Eszlinger M; Meller J; Paschke R
    Horm Metab Res; 2012 Dec; 44(13):962-5. PubMed ID: 22763653
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 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. PubMed ID: 21274318
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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. PubMed ID: 20501679
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Utility of systematic TSHR gene testing in adults with hyperthyroidism lacking overt autoimmunity and diffuse uptake on thyroid scintigraphy.
    Patel KA; Knight B; Aziz A; Babiker T; Tamar A; Findlay J; Cox S; Dimitropoulos I; Tysoe C; Panicker V; Vaidya B
    Clin Endocrinol (Oxf); 2019 Feb; 90(2):328-333. PubMed ID: 30372544
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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. PubMed ID: 16260895
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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. PubMed ID: 22371259
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.