메뉴 건너뛰기




Volumn 110, Issue 2, 2002, Pages 145-147

Linkage analysis identifies the thyroglobulin gene region as a major locus for familial congenital hypothyroidism

Author keywords

[No Author keywords available]

Indexed keywords

THYROGLOBULIN; THYROTROPIN;

EID: 0036488011     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-002-0680-z     Document Type: Article
Times cited : (9)

References (23)
  • 2
    • 0030994365 scopus 로고    scopus 로고
    • Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland
    • Abramowicz MJ, Duprez L, Parma J, Vassart G, Heinrichs C (1997) Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland. J Clin Invest 99:3018-3024
    • (1997) J Clin Invest , vol.99 , pp. 3018-3024
    • Abramowicz, M.J.1    Duprez, L.2    Parma, J.3    Vassart, G.4    Heinrichs, C.5
  • 3
    • 0030983833 scopus 로고    scopus 로고
    • Mutations of the human thyrotropin receptor gene causing thyroid hyperplasia and persistent congenital hypothyroidism
    • Biebermann H, Schöneberg T, Krude H, Schultz G, Gudermann T, Gruters A (1997) Mutations of the human thyrotropin receptor gene causing thyroid hyperplasia and persistent congenital hypothyroidism. J Clin Endocr Metab 82:3471-3480
    • (1997) J Clin Endocr Metab , vol.82 , pp. 3471-3480
    • Biebermann, H.1    Schöneberg, T.2    Krude, H.3    Schultz, G.4    Gudermann, T.5    Gruters, A.6
  • 4
    • 84995853515 scopus 로고
    • A 20-basepair duplication in the human thyroid peroxidase gene results in a total iodide organification defect and congenital hypothyroidism
    • Bikker H, Den Hartog MT, Baas F, Gons MH, Vulsma T, De Vijlder JJM (1994) A 20-basepair duplication in the human thyroid peroxidase gene results in a total iodide organification defect and congenital hypothyroidism. J Clin Endocr Metab 79:248-252
    • (1994) J Clin Endocr Metab , vol.79 , pp. 248-252
    • Bikker, H.1    Den Hartog, M.T.2    Baas, F.3    Gons, M.H.4    Vulsma, T.5    De Vijlder, J.J.M.6
  • 5
    • 0029039137 scopus 로고
    • Identification of five novel inactivating mutations in the human thyroid peroxidase gene by denaturing gradient gel electrophoresis
    • Bikker H, Vulsma T, Baas F, De Vijlder JJM (1995) Identification of five novel inactivating mutations in the human thyroid peroxidase gene by denaturing gradient gel electrophoresis. Hum Mutat 6:9-16
    • (1995) Hum Mutat , vol.6 , pp. 9-16
    • Bikker, H.1    Vulsma, T.2    Baas, F.3    De Vijlder, J.J.M.4
  • 6
    • 0030013089 scopus 로고    scopus 로고
    • Congenital hypothyroidism caused by a premature termination signal in exon 10 of the human thyroid peroxidase gene
    • Bikker H, Waelkens JJJ, Bravenhoer B, De Vijlder JJM (1996) Congenital hypothyroidism caused by a premature termination signal in exon 10 of the human thyroid peroxidase gene. J Clin Endocr Metabol 81:2076-2079
    • (1996) J Clin Endocr Metabol , vol.81 , pp. 2076-2079
    • Bikker, H.1    Waelkens, J.J.J.2    Bravenhoer, B.3    De Vijlder, J.J.M.4
  • 7
    • 0031025824 scopus 로고    scopus 로고
    • Molecular analysis of a mutated thyroid peroxidase detected in patients with total iodide organification defects
    • Bikker H, Baas F, De Vijlder JJM (1997) Molecular analysis of a mutated thyroid peroxidase detected in patients with total iodide organification defects. J Clin Endocr Metab 82;649-653
    • (1997) J Clin Endocr Metab , vol.82 , pp. 649-653
    • Bikker, H.1    Baas, F.2    De Vijlder, J.J.M.3
  • 10
    • 0031037078 scopus 로고    scopus 로고
    • Genetic and linkage analysis of familial congenital hypothyroidism: Exclusion of linkage to the TSH receptor gene
    • Edman Ahlbom B, Yaqoob M, Larsson A, Ilicki A, Annerén G. Wadelius C (1997) Genetic and linkage analysis of familial congenital hypothyroidism: Exclusion of linkage to the TSH receptor gene. Hum Genet 99:186-190
    • (1997) Hum Genet , vol.99 , pp. 186-190
    • Edman Ahlbom, B.1    Yaqoob, M.2    Larsson, A.3    Ilicki, A.4    Annerén, G.5    Wadelius, C.6
  • 13
    • 0026334976 scopus 로고
    • A 3′ splice site mutation in the thyroglobulin gene responsible for congenital goiter with hypothyroidism
    • Ieiri T, Cochaux P, Targovnik HM, Suzuki M, Shimoda S, Perret J, Vassart G. (1991) A 3′ splice site mutation in the thyroglobulin gene responsible for congenital goiter with hypothyroidism. J Clin Invest 88:1901-1905
    • (1991) J Clin Invest , vol.88 , pp. 1901-1905
    • Ieiri, T.1    Cochaux, P.2    Targovnik, H.M.3    Suzuki, M.4    Shimoda, S.5    Perret, J.6    Vassart, G.7
  • 14
    • 0032544022 scopus 로고    scopus 로고
    • A single amino acid change in the acetylcholinesterase-like domain of thyroglobulin cause congenital goiter with hypothyroidism in the cog/cog mouse: A model of human endoplasmatic reticulum storage disease
    • Kim PS, Hossaim S, Park YN, Lee I, Yoo SE, Arvan P (1996) A single amino acid change in the acetylcholinesterase-like domain of thyroglobulin cause congenital goiter with hypothyroidism in the cog/cog mouse: A model of human endoplasmatic reticulum storage disease. Proc Natl Acad Sci USA 18: 9909-9913
    • (1996) Proc Natl Acad Sci USA , vol.18 , pp. 9909-9913
    • Kim, P.S.1    Hossaim, S.2    Park, Y.N.3    Lee, I.4    Yoo, S.E.5    Arvan, P.6
  • 16
    • 0027512869 scopus 로고
    • Defective thyroglobulin synthesis and secretion causing goiter and hypothyroidism
    • Medeiros-Neto G, Targovnik HM, Vassart G (1993) Defective thyroglobulin synthesis and secretion causing goiter and hypothyroidism. Endocr Rev 14:165-183
    • (1993) Endocr Rev , vol.14 , pp. 165-183
    • Medeiros-Neto, G.1    Targovnik, H.M.2    Vassart, G.3
  • 20
    • 0027244729 scopus 로고
    • A nonsense mutation causes human hereditary congenital goiter with preferential production of a 171-nucleotide-deleted thyroglobulin ribonucleic acid messenger
    • Targovnik HM, Medeiros-Neto G, Varela V, Cochaux P, Wajchenberg BL, Vassartz G (1993) A nonsense mutation causes human hereditary congenital goiter with preferential production of a 171-nucleotide-deleted thyroglobulin ribonucleic acid messenger. J Clin Endocrinol Metab 77:210-215
    • (1993) J Clin Endocrinol Metab , vol.77 , pp. 210-215
    • Targovnik, H.M.1    Medeiros-Neto, G.2    Varela, V.3    Cochaux, P.4    Wajchenberg, B.L.5    Vassartz, G.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.