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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: soneda s. 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
Variants associated with autoimmune Type 1 diabetes in Japanese children: implications for age-specific effects of cis-regulatory haplotypes at 17q12-q21.
Ayabe T, Fukami M, Ogata T, Kawamura T, Urakami T, Kikuchi N, Yokota I, Ihara K, Takemoto K, Mukai T, Nishii A, Kikuchi T, Mori T, Shimura N, Sasaki G, Kizu R, Takubo N, Soneda S, Fujisawa T, Takaya R, Kizaki Z, Kanzaki S, Hanaki K, Matsuura N, Kasahara Y, Kosaka K, Takahashi T, Minamitani K, Matsuo S, Mochizuki H, Kobayashi K, Koike A, Horikawa R, Teno S, Tsubouchi K, Mochizuki T, Igarashi Y, Amemiya S, Sugihara S; Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes (JSGIT). Ayabe T, et al. Among authors: soneda s. Diabet Med. 2016 Dec;33(12):1717-1722. doi: 10.1111/dme.13175. Epub 2016 Jul 15. Diabet Med. 2016. PMID: 27352912
FUT2 non-secretor status is associated with Type 1 diabetes susceptibility in Japanese children.
Ihara K, Fukano C, Ayabe T, Fukami M, Ogata T, Kawamura T, Urakami T, Kikuchi N, Yokota I, Takemoto K, Mukai T, Nishii A, Kikuchi T, Mori T, Shimura N, Sasaki G, Kizu R, Takubo N, Soneda S, Fujisawa T, Takaya R, Kizaki Z, Kanzaki S, Hanaki K, Matsuura N, Kasahara Y, Kosaka K, Takahashi T, Minamitani K, Matsuo S, Mochizuki H, Kobayashi K, Koike A, Horikawa R, Teno S, Tsubouchi K, Mochizuki T, Igarashi Y, Amemiya S, Sugihara S; Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes (JSGIT). Ihara K, et al. Among authors: soneda s. Diabet Med. 2017 Apr;34(4):586-589. doi: 10.1111/dme.13288. Epub 2016 Dec 15. Diabet Med. 2017. PMID: 27859559
Aromatase excess syndrome: identification of cryptic duplications and deletions leading to gain of function of CYP19A1 and assessment of phenotypic determinants.
Fukami M, Shozu M, Soneda S, Kato F, Inagaki A, Takagi H, Hanaki K, Kanzaki S, Ohyama K, Sano T, Nishigaki T, Yokoya S, Binder G, Horikawa R, Ogata T. Fukami M, et al. Among authors: soneda s. J Clin Endocrinol Metab. 2011 Jun;96(6):E1035-43. doi: 10.1210/jc.2011-0145. Epub 2011 Apr 6. J Clin Endocrinol Metab. 2011. PMID: 21470988
Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri-Weill dyschondrosteosis.
Shima H, Tanaka T, Kamimaki T, Dateki S, Muroya K, Horikawa R, Kanno J, Adachi M, Naiki Y, Tanaka H, Mabe H, Yagasaki H, Kure S, Matsubara Y, Tajima T, Kashimada K, Ishii T, Asakura Y, Fujiwara I, Soneda S, Nagasaki K, Hamajima T, Kanzaki S, Jinno T, Ogata T, Fukami M; Japanese SHOX study group. Shima H, et al. Among authors: soneda s. J Hum Genet. 2016 Jul;61(7):585-91. doi: 10.1038/jhg.2016.18. Epub 2016 Mar 17. J Hum Genet. 2016. PMID: 26984564
(Epi)genetic defects of MKRN3 are rare in Asian patients with central precocious puberty.
Suzuki E, Shima H, Kagami M, Soneda S, Tanaka T, Yatsuga S, Nishioka J, Oto Y, Kamiya T, Naiki Y, Ogata T, Fujisawa Y, Nakamura A, Kawashima S, Morikawa S, Horikawa R, Sano S, Fukami M. Suzuki E, et al. Among authors: soneda s. Hum Genome Var. 2019 Jan 21;6:7. doi: 10.1038/s41439-019-0039-9. eCollection 2019. Hum Genome Var. 2019. PMID: 30675365 Free PMC article.
24 results