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Page 1
Mutation and gene copy number analyses of six pituitary transcription factor genes in 71 patients with combined pituitary hormone deficiency: identification of a single patient with LHX4 deletion.
Dateki S, Fukami M, Uematsu A, Kaji M, Iso M, Ono M, Mizota M, Yokoya S, Motomura K, Kinoshita E, Moriuchi H, Ogata T. Dateki S, et al. Among authors: motomura k. J Clin Endocrinol Metab. 2010 Aug;95(8):4043-7. doi: 10.1210/jc.2010-0150. Epub 2010 Jun 9. J Clin Endocrinol Metab. 2010. PMID: 20534763
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: motomura k. 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
A Japanese patient with a mild Lenz-Majewski syndrome.
Dateki S, Kondoh T, Nishimura G, Motomura K, Yoshiura KI, Kinoshita A, Kuniba H, Koga Y, Moriuchi H. Dateki S, et al. Among authors: motomura k. J Hum Genet. 2007;52(8):686-689. doi: 10.1007/s10038-007-0165-y. Epub 2007 Jun 26. J Hum Genet. 2007. PMID: 17593321
[Rothmund-Thomson syndrome].
Kuniba H, Egashira M, Motomura H, Motomura K, Kondoh T. Kuniba H, et al. Among authors: motomura k, motomura h. Nihon Rinsho. 2006 Sep 28;Suppl 3:481-4. Nihon Rinsho. 2006. PMID: 17022592 Review. Japanese. No abstract available.
[Rud syndrome].
Kuniba H, Egashira M, Motomura H, Motomura K, Kondoh T. Kuniba H, et al. Among authors: motomura k, motomura h. Nihon Rinsho. 2006 Sep 28;Suppl 3:485-7. Nihon Rinsho. 2006. PMID: 17022593 Review. Japanese. No abstract available.
[Hall syndrome (Pallister-Hall syndrome)].
Kuniba H, Egashira M, Motomura H, Motomura K, Kondoh T. Kuniba H, et al. Among authors: motomura k, motomura h. Nihon Rinsho. 2006 Sep 28;Suppl 3:591-3. Nihon Rinsho. 2006. PMID: 17022615 Review. Japanese. No abstract available.
640 results