메뉴 건너뛰기




Volumn 2, Issue 4, 2010, Pages 168-172

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

Author keywords

Germline mutation; Nonautoimmune hyperthyroidism; Thyrotropin receptor

Indexed keywords

PROPRANOLOL; PROPYLTHIOURACIL; THYROTROPIN RECEPTOR;

EID: 78650293544     PISSN: 13085727     EISSN: 13085735     Source Type: Journal    
DOI: 10.4274/jcrpe.v2i4.168     Document Type: Article
Times cited : (9)

References (19)
  • 1
    • 0021075073 scopus 로고
    • Pregnancy-associated changes in the thyroid-stimulating antibody of Graves' disease and the relationship to neonatal hyperthyroidism
    • Zakarija M, McKenzie JM. Pregnancy-associated changes in the thyroid-stimulating antibody of Graves' disease and the relationship to neonatal hyperthyroidism. J Clin Endocrinol Metab 1983;57:1036-1040.
    • (1983) J Clin Endocrinol Metab , vol.57 , pp. 1036-1040
    • Zakarija, M.1    McKenzie, J.M.2
  • 2
    • 0034505679 scopus 로고    scopus 로고
    • 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. Novel TSHR germline mutation (Met463Val) masquerading as Graves' disease in a large Welsh kindred with hyperthyroidism. Thyroid 2000;10:1035-1041.
    • (2000) Thyroid , vol.10 , pp. 1035-1041
    • Fuhrer, D.1    Warner, J.2    Sequeira, M.3    Paschke, R.4    Gregory, J.5    Ludgate, M.6
  • 3
    • 0034844004 scopus 로고    scopus 로고
    • The TSH receptor and its role in thyroid disease
    • Kopp P. The TSH receptor and its role in thyroid disease. Cell Mol Life Sci 2001;58:1301-1322.
    • (2001) Cell Mol Life Sci , vol.58 , pp. 1301-1322
    • Kopp, P.1
  • 5
    • 0030734932 scopus 로고    scopus 로고
    • Identification of a new thyrotropin receptor germline mutation (Leu629Phe) in a family with neonatal onset of autosomal dominant nonautoimmune hyperthyroidism
    • Fuhrer D, Wonerow P, Willgerodt H, Paschke R. Identification of a new thyrotropin receptor germline mutation (Leu629Phe) in a family with neonatal onset of autosomal dominant nonautoimmune hyperthyroidism. J Clin Endocrinol Metab 1997;82:4234-4238.
    • (1997) J Clin Endocrinol Metab , vol.82 , pp. 4234-4238
    • Fuhrer, D.1    Wonerow, P.2    Willgerodt, H.3    Paschke, R.4
  • 8
    • 0031772403 scopus 로고    scopus 로고
    • Severe congenital hyperthyroidism caused by a germ-line neomutation in the extracellular portion of the thyrotropin receptor
    • Gruters A, Schoneberg T, Biebermann H, Krude H, Krohn HP, Dralle H, Gudermann T. Severe congenital hyperthyroidism caused by a germ-line neomutation in the extracellular portion of the thyrotropin receptor. J Clin Endocrinol Metab 1998;83:1431-1436.
    • (1998) J Clin Endocrinol Metab , vol.83 , pp. 1431-1436
    • Gruters, A.1    Schoneberg, T.2    Biebermann, H.3    Krude, H.4    Krohn, H.P.5    Dralle, H.6    Gudermann, T.7
  • 9
    • 0028588698 scopus 로고
    • Identification and functional characterization of two new somatic mutations causing constitutive activation of the thyrotropin receptor in hyperfunctioning autonomous adenomas of the thyroid
    • Paschke R, Tonacchera M, Van Sande J, Parma J, Vassart G. Identification and functional characterization of two new somatic mutations causing constitutive activation of the thyrotropin receptor in hyperfunctioning autonomous adenomas of the thyroid. J Clin Endocrinol Metab 1994; 79:1785-1789.
    • (1994) J Clin Endocrinol Metab , vol.79 , pp. 1785-1789
    • Paschke, R.1    Tonacchera, M.2    van Sande, J.3    Parma, J.4    Vassart, G.5
  • 11
    • 33846028558 scopus 로고    scopus 로고
    • 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. Sporadic congenital hyperthyroidism due to a germline mutation in the thyrotropin receptor gene (Leu 512 Gln) in a Japanese patient. Endocr J 2006;53:735-740.
    • (2006) Endocr J , vol.53 , pp. 735-740
    • Nishihara, E.1    Fukata, S.2    Hishinuma, A.3    Kudo, T.4    Ohye, H.5    Ito, M.6    Kubota, S.7    Amino, N.8    Kuma, K.9    Miyauchi, A.10
  • 14
    • 2442755611 scopus 로고    scopus 로고
    • Variable phenotype associated with Ser505Asnactivating thyrotropin-receptor germline mutation
    • Fuhrer D, Mix M, Wonerow P, Richter I, Willgerodt H, Paschke R. Variable phenotype associated with Ser505Asnactivating thyrotropin-receptor germline mutation. Thyroid 1999;9:757-761.
    • (1999) Thyroid , vol.9 , pp. 757-761
    • Fuhrer, D.1    Mix, M.2    Wonerow, P.3    Richter, I.4    Willgerodt, H.5    Paschke, R.6
  • 15
    • 27844605058 scopus 로고    scopus 로고
    • 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 J. Long-term carbimazole treatment of neonatal nonautoimmune hyperthyroidism due to a new activating TSH receptor gene mutation (Ala428Val). Hormon Res 2005;64:203-208.
    • (2005) Hormon Res , vol.64 , pp. 203-208
    • Börgel, K.1    Pohlenz, J.2    Koch, H.G.3    Bramswig, J.4
  • 18
    • 0031406420 scopus 로고    scopus 로고
    • Congenital nonautoimmune hyperthyroidism in a nonidentical twin caused by a sporadic germline mutation in the thyrotropin receptor gene
    • Kopp P, Jameson JL, Roe TF. Congenital nonautoimmune hyperthyroidism in a nonidentical twin caused by a sporadic germline mutation in the thyrotropin receptor gene. Thyroid 1997;7:765-770.
    • (1997) Thyroid , vol.7 , pp. 765-770
    • Kopp, P.1    Jameson, J.L.2    Roe, T.F.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.