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Clinical characteristics of septo-optic dysplasia accompanied by congenital central hypothyroidism in Japan.
Nagasaki K, Kubota T, Kobayashi H, Sawada H, Numakura C, Harada S, Takasawa K, Minamitani K, Ishii T, Okada S, Kamasaki H, Sugihara S, Adachi M, Tajima T. Nagasaki K, et al. Among authors: tajima t. Clin Pediatr Endocrinol. 2017;26(4):207-213. doi: 10.1297/cpe.26.207. Epub 2017 Sep 28. Clin Pediatr Endocrinol. 2017. PMID: 29026269 Free PMC article.
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: tajima t. 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
Cytochrome P450 oxidoreductase deficiency: identification and characterization of biallelic mutations and genotype-phenotype correlations in 35 Japanese patients.
Fukami M, Nishimura G, Homma K, Nagai T, Hanaki K, Uematsu A, Ishii T, Numakura C, Sawada H, Nakacho M, Kowase T, Motomura K, Haruna H, Nakamura M, Ohishi A, Adachi M, Tajima T, Hasegawa Y, Hasegawa T, Horikawa R, Fujieda K, Ogata T. Fukami M, et al. Among authors: tajima t. J Clin Endocrinol Metab. 2009 May;94(5):1723-31. doi: 10.1210/jc.2008-2816. Epub 2009 Mar 3. J Clin Endocrinol Metab. 2009. PMID: 19258400
1,509 results