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261 results

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Page 1
Identification of monogenic gene mutations in Japanese subjects diagnosed with type 1B diabetes between >5 and 15.1 years of age.
Moritani M, Yokota I, Horikawa R, Urakami T, Nishii A, Kawamura T, Kikuchi N, Kikuchi T, Ogata T, Sugihara S, Amemiya S; Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes (JSGIT)ª. Moritani M, et al. Among authors: horikawa r. J Pediatr Endocrinol Metab. 2016 Sep 1;29(9):1047-54. doi: 10.1515/jpem-2016-0030. J Pediatr Endocrinol Metab. 2016. PMID: 27398945
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
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
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: horikawa r. 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
Identification and functional analysis of novel human growth hormone-releasing hormone receptor (GHRHR) gene mutations in Japanese subjects with short stature.
Inoue H, Kangawa N, Kinouchi A, Sakamoto Y, Kimura C, Horikawa R, Shigematsu Y, Itakura M, Ogata T, Fujieda K; Japan Growth Genome Consortium. Inoue H, et al. Among authors: horikawa r. Clin Endocrinol (Oxf). 2011 Feb;74(2):223-33. doi: 10.1111/j.1365-2265.2010.03911.x. Clin Endocrinol (Oxf). 2011. PMID: 21044116
Identification and functional analysis of novel human growth hormone secretagogue receptor (GHSR) gene mutations in Japanese subjects with short stature.
Inoue H, Kangawa N, Kinouchi A, Sakamoto Y, Kimura C, Horikawa R, Shigematsu Y, Itakura M, Ogata T, Fujieda K; Japan Growth Genome Consortium. Inoue H, et al. Among authors: horikawa r. J Clin Endocrinol Metab. 2011 Feb;96(2):E373-8. doi: 10.1210/jc.2010-1570. Epub 2010 Nov 17. J Clin Endocrinol Metab. 2011. PMID: 21084395
261 results