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Page 1
Congenital euthyroid goitre with impaired thyroglobulin transport.
Ohyama Y, Hosoya T, Kameya T, Suzuki N, Nakamura S, Kazahari K, Shibayama K, Yokota Y, Matsuura N. Ohyama Y, et al. Clin Endocrinol (Oxf). 1994 Jul;41(1):129-35. doi: 10.1111/j.1365-2265.1994.tb03794.x. Clin Endocrinol (Oxf). 1994. PMID: 8050126
Two novel cysteine substitutions (C1263R and C1995S) of thyroglobulin cause a defect in intracellular transport of thyroglobulin in patients with congenital goiter and the variant type of adenomatous goiter.
Hishinuma A, Takamatsu J, Ohyama Y, Yokozawa T, Kanno Y, Kuma K, Yoshida S, Matsuura N, Ieiri T. Hishinuma A, et al. Among authors: ohyama y. J Clin Endocrinol Metab. 1999 Apr;84(4):1438-44. doi: 10.1210/jcem.84.4.5633. J Clin Endocrinol Metab. 1999. PMID: 10199792
Haplotype analysis reveals founder effects of thyroglobulin gene mutations C1058R and C1977S in Japan.
Hishinuma A, Fukata S, Nishiyama S, Nishi Y, Oh-Ishi M, Murata Y, Ohyama Y, Matsuura N, Kasai K, Harada S, Kitanaka S, Takamatsu J, Kiwaki K, Ohye H, Uruno T, Tomoda C, Tajima T, Kuma K, Miyauchi A, Ieiri T. Hishinuma A, et al. Among authors: ohyama y. J Clin Endocrinol Metab. 2006 Aug;91(8):3100-4. doi: 10.1210/jc.2005-2702. Epub 2006 May 23. J Clin Endocrinol Metab. 2006. PMID: 16720658
457 results