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1)Van Vliet G. Development of the thyroid gland: lessons from congenitally hypothyroid mice and men. Clin Genet. 2003; 63: 445-55
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2)Effects of neonatal screening for hypothyroidism: prevention of mental retardation by treatment before clinical manifestations. New England congenital hypothyroidism collaborative. Lancet. 1981; 2: 1095-8
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3)Narumi S, Muroya K, Asakura Y, et al. Transcription factor mutations and congenital hypothyroidism: systematic genetic screening of a population-based cohort of Japanese patients. J Clin Endocrinol Metab. 2010; 95: 1981-5
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4)Narumi S, Muroya K, Asakura Y, et al. Molecular basis of thyroid dyshormonogenesis: genetic screening in population-based Japanese patients. J Clin Endocrinol Metab. 2011; 96: E1838-42
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5)Hishinuma A, Fukata S, Nishiyama S, et al. Haplotype analysis reveals founder effects of thyroglobulin gene mutations C1058R and C1977S in Japan. J Clin Endocrinol Metab. 2006; 91: 3100-4
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6)Hishinuma A, Fukata S, Kakudo K, et al. High incidence of thyroid cancer in long-standing goiters with thyroglobulin mutations. Thyroid. 2005; 15: 1079-84
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7)Tsunekawa K, Onigata K, Morimura T, et al. Identification and functional analysis of novel inactivating thyrotropin receptor mutations in patients with thyrotropin resistance. Thyroid. 2006; 16: 471-9
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8)Hishinuma A. [Genetics of thyroid diseases]. Nihon Rinsho. 2012; 70: 1885-91
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9)Refetoff S. Resistance to thyroid hormone: one of several defects causing reduced sensitivity to thyroid hormone. Nat Clin Pract Endocrinol Metab. 2008; 4: 1
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10)Nakajima Y, Yamada M, Horiguchi K, et al. Resistance to thyroid hormone due to a novel thyroid hormone receptor mutant in a patient with hypothyroidism secondary to lingual thyroid and functional characterization of the mutant receptor. Thyroid. 2010; 20: 917-26
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11)Bochukova E, Schoenmakers N, Agostini M, et al. A mutation in the thyroid hormone receptor alpha gene. N Engl J Med. 2012; 366: 243-9
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12)van Mullem AA, Chrysis D, Eythimiadou A, et al. Clinical phenotype of a new type of thyroid hormone resistance caused by a mutation of the TRα1 receptor: consequences of LT4 treatment. J Clin Endocrinol Metab. 2013; 98: 3029-38
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13)Vaurs-Barrière C, Deville M, Sarret C, et al. Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects. Ann Neurol. 2009; 65: 114-8
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14)Dumitrescu AM, Refetoff S. The syndromes of reduced sensitivity to thyroid hormone. Biochim Biophys Acta. 2013; 1830: 3987-4003
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15)Di Cosmo C, Liao XH, Dumitrescu AM, et al. Mice deficient in MCT8 reveal a mechanism regulating thyroid hormone secretion. J Clin Invest. 2010; 120: 3377-88
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16)山田正信.論文紹介:MCT8欠損マウスにより明らかとなった甲状腺からの甲状腺ホルモン分泌機構.日本甲状腺学会雑誌. 2011; 2(2): 127
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17)Wirth EK, Roth S, Blechschmidt C, et al. Neuronal 3',3,5-triiodothyronine (T3) uptake and behavioral phenotype of mice deficient in Mct8, the neuronal T3 transporter mutated in Allan-Herndon-Dudley syndrome. J Neurosci. 2009; 29: 9439-49
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18)鯉淵典之.論文紹介: 変異によりAllan-Herndon-Dudley症候群を生じる神経細胞型T3輸送体Mct8遺伝子を欠損したマウスニューロンにおける3',3,5-トリヨードサイロニン(T3)取り込みと行動表現型の解析.日本甲状腺学会雑誌. 2010; 1(2): 138
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19)Dumitrescu AM, Liao XH, Abdullah MS, et al. Mutations in SECISBP2 result in abnormal thyroid hormone metabolism. Nat Genet. 2005; 37: 1247-52
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20)Hamajima T, Mushimoto Y, Kobayashi H, et al. Novel compound heterozygous mutations in the SBP2 gene: characteristic clinical manifestations and the implications of GH and triiodothyronine in longitudinal bone growth and maturation. Eur J Endocrinol. 2012; 166: 757-64
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