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Turner syndrome and Xp deletions: clinical and molecular studies in 47 patients.
Ogata T, Muroya K, Matsuo N, Shinohara O, Yorifuji T, Nishi Y, Hasegawa Y, Horikawa R, Tachibana K. Ogata T, et al. Among authors: horikawa r. J Clin Endocrinol Metab. 2001 Nov;86(11):5498-508. doi: 10.1210/jcem.86.11.8058. J Clin Endocrinol Metab. 2001. PMID: 11701728 Clinical Trial.
Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients.
Sato N, Katsumata N, Kagami M, Hasegawa T, Hori N, Kawakita S, Minowada S, Shimotsuka A, Shishiba Y, Yokozawa M, Yasuda T, Nagasaki K, Hasegawa D, Hasegawa Y, Tachibana K, Naiki Y, Horikawa R, Tanaka T, Ogata T. Sato N, et al. Among authors: horikawa r. J Clin Endocrinol Metab. 2004 Mar;89(3):1079-88. doi: 10.1210/jc.2003-030476. J Clin Endocrinol Metab. 2004. PMID: 15001591
Genitourinary phenotype in XX patients with distal 9p monosomy.
Fujimoto Y, Okuyama T, Iijima M, Tanaka T, Horikawa R, Yamada K, Ogata T. Fujimoto Y, et al. Among authors: horikawa r. Mol Genet Metab. 2004 Jun;82(2):173-9. doi: 10.1016/j.ymgme.2004.04.003. Mol Genet Metab. 2004. PMID: 15172006
Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients.
Fukami M, Horikawa R, Nagai T, Tanaka T, Naiki Y, Sato N, Okuyama T, Nakai H, Soneda S, Tachibana K, Matsuo N, Sato S, Homma K, Nishimura G, Hasegawa T, Ogata T. Fukami M, et al. Among authors: horikawa r. J Clin Endocrinol Metab. 2005 Jan;90(1):414-26. doi: 10.1210/jc.2004-0810. Epub 2004 Oct 13. J Clin Endocrinol Metab. 2005. PMID: 15483095
254 results