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Volumn 36, Issue 11, 2006, Pages 738-741

Thyroid hormone resistance: The role of mutational analysis

Author keywords

Generalized resistance to thyroid hormone; Mutational analysis; Thyroid hormone; Thyroid hormone receptor

Indexed keywords

LIOTHYRONINE; THYROID HORMONE; THYROID HORMONE RECEPTOR BETA; THYROTROPIN; THYROXINE;

EID: 33749840430     PISSN: 14440903     EISSN: 14455994     Source Type: Journal    
DOI: 10.1111/j.1445-5994.2006.01189.x     Document Type: Article
Times cited : (13)

References (16)
  • 1
    • 0035758644 scopus 로고    scopus 로고
    • Elevated thyroid hormone levels with normal or raised thyroid-stimulating hormone: A diagnostic and therapeutic dilemma
    • Holdaway IM. Elevated thyroid hormone levels with normal or raised thyroid-stimulating hormone: a diagnostic and therapeutic dilemma. Intern Med J 2001; 31: 379-81.
    • (2001) Intern Med J , vol.31 , pp. 379-381
    • Holdaway, I.M.1
  • 2
    • 0035758980 scopus 로고    scopus 로고
    • Asymptomatic thyrotropin-secreting pituitary microadenoma
    • Lim EM, Bhagat CI, Walsh J. Asymptomatic thyrotropin-secreting pituitary microadenoma. Intern Med J 2001; 31: 428-9.
    • (2001) Intern Med J , vol.31 , pp. 428-429
    • Lim, E.M.1    Bhagat, C.I.2    Walsh, J.3
  • 3
    • 0035758994 scopus 로고    scopus 로고
    • Chronically elevated thyroid-stimulating hormone: Resistance to thyroid hormone
    • Platts A, Greenaway T, Parameswaran V. Chronically elevated thyroid-stimulating hormone: resistance to thyroid hormone. Intern Med J 2001; 31: 430-31.
    • (2001) Intern Med J , vol.31 , pp. 430-431
    • Platts, A.1    Greenaway, T.2    Parameswaran, V.3
  • 4
    • 0031911110 scopus 로고    scopus 로고
    • Antibody interference in thyroid assays: A potential for clinical misinformation
    • Despres N, Grant AM. Antibody interference in thyroid assays: a potential for clinical misinformation. Clin Chem 1998; 44: 440-54.
    • (1998) Clin Chem , vol.44 , pp. 440-454
    • Despres, N.1    Grant, A.M.2
  • 5
    • 0023688222 scopus 로고
    • Detection of protein binding abnormalities in euthyroid hyperthyroxinemia
    • George PM, Sheat JM, Palmer BN. Detection of protein binding abnormalities in euthyroid hyperthyroxinemia. Clin Chem 1988; 34: 1745-8.
    • (1988) Clin Chem , vol.34 , pp. 1745-1748
    • George, P.M.1    Sheat, J.M.2    Palmer, B.N.3
  • 6
    • 0014055213 scopus 로고
    • Familial syndrome combining deaf-mutism, stippled epiphyses, goiter and abnormally high PBI: Possible target organ refractoriness to thyroid hormone
    • Refetoff S, DeWind LT, DeGroot LJ. Familial syndrome combining deaf-mutism, stippled epiphyses, goiter and abnormally high PBI: possible target organ refractoriness to thyroid hormone. J Clin Endocrinol Metab 1967; 27: 279-94.
    • (1967) J Clin Endocrinol Metab , vol.27 , pp. 279-294
    • Refetoff, S.1    Dewind, L.T.2    Degroot, L.J.3
  • 7
    • 0027930409 scopus 로고
    • Genetic analysis of 29 kindreds with generalised and pituitary resistance to thyroid hormone. Identification of thirteen novel mutations in the TRβ gene
    • Adams M, Matthews C, Collingwood TN, Tone Y, Beck-Peccoz P, Chatterjee KK. Genetic analysis of 29 kindreds with generalised and pituitary resistance to thyroid hormone. Identification of thirteen novel mutations in the TRβ gene. J Clin Invest 1994; 94: 506-15.
    • (1994) J Clin Invest , vol.94 , pp. 506-515
    • Adams, M.1    Matthews, C.2    Collingwood, T.N.3    Tone, Y.4    Beck-Peccoz, P.5    Chatterjee, K.K.6
  • 8
    • 0027281426 scopus 로고
    • Identical mutations in unrelated families with generalized resistance to thyroid hormone occur in cytosine-guanine-rich areas of the TRbeta gene. Analysis of 15 families
    • Weiss RE, Weinberg M, Refetoff S. Identical mutations in unrelated families with generalized resistance to thyroid hormone occur in cytosine-guanine-rich areas of the TRbeta gene. Analysis of 15 families. J Clin Invest 1993; 91: 2408-15.
    • (1993) J Clin Invest , vol.91 , pp. 2408-2415
    • Weiss, R.E.1    Weinberg, M.2    Refetoff, S.3
  • 9
    • 0030986999 scopus 로고    scopus 로고
    • Resistance to thyroid hormone in a family caused by a new point mutation L330S in the thyroid receptor (TR) beta gene
    • Pohlenz J, Wildthardt G, Zabel B, Wildgerodt H. Resistance to thyroid hormone in a family caused by a new point mutation L330S in the thyroid receptor (TR) beta gene. Thyroid 1997; 7: 39-41.
    • (1997) Thyroid , vol.7 , pp. 39-41
    • Pohlenz, J.1    Wildthardt, G.2    Zabel, B.3    Wildgerodt, H.4
  • 10
    • 0027528837 scopus 로고
    • Identification of a novel mutation in the gene encoding the beta-triiodothyronine receptor in a patient with apparent selective resistance to pituitary thyroid hormone
    • Mixson AJ, Renault JC, Ransom S, Bodenner DL, Weintraub BD. Identification of a novel mutation in the gene encoding the beta- triiodothyronine receptor in a patient with apparent selective resistance to pituitary thyroid hormone. Clin Endocrinol (Oxf) 1993; 38: 227-34.
    • (1993) Clin Endocrinol (Oxf) , vol.38 , pp. 227-234
    • Mixson, A.J.1    Renault, J.C.2    Ransom, S.3    Bodenner, D.L.4    Weintraub, B.D.5
  • 11
    • 0029762751 scopus 로고    scopus 로고
    • A new mutation in the TR beta gene (V458A) in a family with resistance to thyroid hormone (RTH)
    • Weiss RE, Tunca H, Gerstein HC, Refetoff S. A new mutation in the TR beta gene (V458A) in a family with resistance to thyroid hormone (RTH). Thyroid 1996; 6: 311-12.
    • (1996) Thyroid , vol.6 , pp. 311-312
    • Weiss, R.E.1    Tunca, H.2    Gerstein, H.C.3    Refetoff, S.4
  • 12
    • 0027241002 scopus 로고
    • The syndromes of resistance to thyroid hormone
    • Refetoff S, Weiss RE, Usala SJ. The syndromes of resistance to thyroid hormone. Endocr Rev 1993; 14: 348-99.
    • (1993) Endocr Rev , vol.14 , pp. 348-399
    • Refetoff, S.1    Weiss, R.E.2    Usala, S.J.3
  • 13
    • 0033072276 scopus 로고    scopus 로고
    • Treatment of resistance to thyroid hormone - Primum non nocere
    • [editorial]
    • Weiss RE, Refetoff S. Treatment of resistance to thyroid hormone - Primum non nocere [editorial]. J Clin Endocrinol Metab 1999; 84: 401-3.
    • (1999) J Clin Endocrinol Metab , vol.84 , pp. 401-403
    • Weiss, R.E.1    Refetoff, S.2
  • 14
    • 0028882610 scopus 로고
    • Genetic and clinical features of 42 kindreds with resistance to thyroid hormone: The National Institutes of Health Prospective Study
    • Brucker-Davis F, Skarulis MC, Grace MB, Benichou J, Hauser P, Wiggs E et al. Genetic and clinical features of 42 kindreds with resistance to thyroid hormone: the National Institutes of Health Prospective Study. Ann Intern Med 1995; 123: 572-83.
    • (1995) Ann Intern Med , vol.123 , pp. 572-583
    • Brucker-Davis, F.1    Skarulis, M.C.2    Grace, M.B.3    Benichou, J.4    Hauser, P.5    Wiggs, E.6
  • 15
    • 22044433015 scopus 로고    scopus 로고
    • DNA-based diagnosis of thyroid hormone resistance syndrome: A novel THRB mutation associated with mild resistance to thyroidhormone
    • Lam C-W, Chan AO-K, Tong S-F, Shek C-C, Tiu SC. DNA-based diagnosis of thyroid hormone resistance syndrome: a novel THRB mutation associated with mild resistance to thyroidhormone. Clin Chim Acta 2005; 358: 55-9.
    • (2005) Clin Chim Acta , vol.358 , pp. 55-59
    • Lam, C.-W.1    Chan, A.O.-K.2    Tong, S.-F.3    Shek, C.-C.4    Tiu, S.C.5
  • 16
    • 0024468343 scopus 로고
    • Thyrotropin-secreting pituitary adenomas: Clinical and biochemical heterogeneity. Case reports and follow up of nine patients
    • Gesundheit N, Petrick P, Nissim S, Dahlberg PA, Doppman JL, Emerson CH et al. Thyrotropin-secreting pituitary adenomas: clinical and biochemical heterogeneity. Case reports and follow up of nine patients. Ann Intern Med 1989; 111: 827-35.
    • (1989) Ann Intern Med , vol.111 , pp. 827-835
    • Gesundheit, N.1    Petrick, P.2    Nissim, S.3    Dahlberg, P.A.4    Doppman, J.L.5    Emerson, C.H.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.