論文 - 八木 弘子
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Screening for imprinting disorders in 58 patients with clinically diagnosed idiopathic short stature.
Kawashima S, Yagi H, Hirano Y, Toki M, Izumi K, Dateki S, Namba N, Kamimaki T, Muroya K, Tanaka T, Fukami M, Kagami M, Japanese SHOX study group.
Journal of pediatric endocrinology & metabolism : JPEM 33 ( 10 ) 1335 - 1339 2020年08月
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Relaxin-3 regulates corticotropin-releasing factor gene expression in cultured rat hypothalamic 4B cells.
Hiroko Yagi, Kazunori Kageyama, Noriko Kinoshita, Kanako Niioka, Satoshi Yamagata, Etsuro Ito, Makoto Daimon
Neuroscience letters 692 137 - 142 2018年11月
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A familial case of spondyloepiphyseal dysplasia tarda caused by a novel splice site mutation in <i>TRAPPC2</i>
Fukuma Mami, Takagi Masaki, Shimazu Tomoyuki, Imamura Hoseki, Yagi Hiroko, Nishimura Gen, Hasegawa Tomonobu
Ｃｌｉｎｉｃａｌ Ｐｅｄｉａｔｒｉｃ Ｅｎｄｏｃｒｉｎｏｌｏｇｙ 27 ( 3 ) 193 - 196 2018年
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Regulation of gonadotropins by urocortin 2 in gonadotropic tumor LβT2 cells.
Kageyama K, Murasawa S, Niioka K, Otsuka F, Yagi H, Daimon M
Neuroscience letters 660 63 - 67 2017年11月
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A novel heterozygous intronic mutation in POU1F1 is associated with combined pituitary hormone deficiency.
Takagi M, Kamasaki H, Yagi H, Fukuzawa R, Narumi S, Hasegawa T
Endocrine journal 64 ( 2 ) 229 - 234 2017年02月
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Gradually increasing ethinyl estradiol for Turner syndrome may produce good final height but not ideal BMD.
Hasegawa Y, Ariyasu D, Izawa M, Igaki-Miyamoto J, Fukuma M, Hatano M, Yagi H, Goto M
Endocrine journal 64 ( 2 ) 221 - 227 2017年02月
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Syndromic disorder of sex development due to a novel hemizygous mutation in the carboxyl-terminal domain of <i>ATRX</i>.
Takagi M, Yagi H, Fukuzawa R, Narumi S, Hasegawa T
Human genome variation 4 17012 2017年
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Five cases of childhood-onset Graves' disease treated with either surgery or radio-iodine therapy.
Tomari K, Goto M, Shimada A, Yagi H, Nagashima Y, Hasegawa Y
Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 26 ( 4 ) 265 - 269 2017年
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A case of transient neonatal diabetes due to a novel mutation in <i>ABCC8</i>.
Takagi M, Takeda R, Yagi H, Ariyasu D, Fukuzawa R, Hasegawa T
Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 25 ( 4 ) 139 - 141 2016年10月
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Early-onset urological disorders due to Wolfram syndrome: A case of neonatal onset.
Fukuma M, Ariyasu D, Hatano M, Yagi H, Hasegawa Y
Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 25 ( 2 ) 67 - 9 2016年04月
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Stippled calcification in an infant with a recurrent SRCAP gene mutation.
Yagi H, Takagi M, Narumi S, Hasegawa T, Nishimura G, Hasegawa Y
American journal of medical genetics. Part A 170A ( 4 ) 1088 - 91 2016年04月
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Novel heterozygous mutation in the extracellular domain of <i>FGFR1</i> associated with Hartsfield syndrome.
Takagi M, Miyoshi T, Nagashima Y, Shibata N, Yagi H, Fukuzawa R, Hasegawa T
Human genome variation 3 16034 2016年
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Functional Characterization of c.870+3_6delGAGT Splice Site Mutation in NR5A1.
Takagi M, Nishina N, Yagi H, Hasegawa Y
Hormone research in paediatrics 85 ( 1 ) 65 - 8 2016年
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A case of a Japanese patient with neonatal diabetes mellitus caused by a novel mutation in the ABCC8 gene and successfully controlled with oral glibenclamide.
Takeda R, Takagi M, Miyai K, Shinohara H, Yagi H, Moritani M, Yokota I, Hasegawa Y
Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 24 ( 4 ) 191 - 3 2015年10月
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A case of spondyloepiphyseal dysplasia tarda caused by a novel intragenic deletion of TRAPPC2.
Takagi M, Yagi H, Nakamura Y, Shinohara H, Takeda R, Shimada A, Nishimura G, Hasegawa Y
Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 24 ( 3 ) 139 - 41 2015年07月
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Sclerosteosis (craniotubular hyperostosis-syndactyly) with complex hyperphalangy of the index finger.
Yagi H, Takagi M, Hasegawa Y, Kayserili H, Nishimura G
Pediatric radiology 45 ( 8 ) 1239 - 43 2015年07月
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Fertility preservation in a family with a novel NR5A1 mutation.
Yagi H, Takagi M, Kon M, Igarashi M, Fukami M, Hasegawa Y
Endocrine journal 62 ( 3 ) 289 - 95 2015年