Not logged inNovel HK1 intronic variant in congenital hyperinsulinism: impaired transactivation function for FOXA2
Yamoto, Kaori; Miyamoto, Sachiko; Sano, Shinichiro; Ohkubo, Yumiko; Tanikawa, Wataru; Masunaga, Yohei; Higuchi, Shinji; Mori, Jun; Fujisawa, Yasuko; Saitsu, Hirotomo; Ogata, Tsutomu .png)
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SaveShare Save Share Save Clinical practice guidelines for the management of differences of sex development in JapanIshii, Tomohiro; Kashimada, Kenichi; Kawai, Masanobu; Itonaga, Tomoyo; Iwasa, Takeshi; Utsunomiya, Akari; Ozaki, Kayo; Kawamura, Kazuhiro; Kanno, Junko; Koh, Jun; Kojima, Yoshiyuki; Sasaki, Shoko; Sato, Hiroyuki; Shiraishi, Koji; Naiki, Yasuhiro; Nishiyama, Mitsuru; Hamajima, Takashi; Fujisawa, Yasuko; Makita, Noriko; Matsui, Katsuyuki; Yanai, Toshihiro; Horikawa, Reiko; Ogata, Tsutomu Share Save Clinical practice guidelines for the management of differences of sex development in JapanIshii, Tomohiro; Kashimada, Kenichi; Kawai, Masanobu; Itonaga, Tomoyo; Iwasa, Takeshi; Utsunomiya, Akari; Ozaki, Kayo; Kawamura, Kazuhiro; Kanno, Junko; Koh, Jun; Kojima, Yoshiyuki; Sasaki, Shoko; Sato, Hiroyuki; Shiraishi, Koji; Naiki, Yasuhiro; Nishiyama, Mitsuru; Hamajima, Takashi; Fujisawa, Yasuko; Makita, Noriko; Matsui, Katsuyuki; Yanai, Toshihiro; Horikawa, Reiko; Ogata, Tsutomu Share Save Comprehensive Molecular Studies in 88 Japanese Patients With Congenital Hypogonadotropic HypogonadismTanikawa, Wataru; Okamoto, Shingo; Ohara, Osamu; Masunaga, Yohei; Yamoto, Kaori; Fujisawa, Yasuko; Ohyama, Ibuki; Saitsu, Hirotomo; Fukami, Maki; Kaname, Tadashi; Ogata, Tsutomu Share Save Share Save Share Save Production of 11-ketotestosterone in childhood adrenal tumors with virilization or peripheral precocious puberty: Dominant expression of 11β-hydroxysteroid dehydrogenase type 2Fujisawa, Yasuko; Sano, Shinichiro; Murai, Yuki; Sakaguchi, Kimiyoshi; Masunaga, Yohei; Kinjo, Kenichi; Tanikawa, Wataru; Ikeda, Maiko; Oyama, Ibuki; Ogata, Tsutomu Share Save Missense and truncated variants in ERF in individuals with a Noonan-like phenotype without craniosynostosisGoto, Yusuke; Niihori, Tetsuya; Mizuno, Seiji; Okamoto, Nobuhiko; Ogata, Tsutomu; Kurosawa, Kenji; Ohashi, Hirofumi; Matsubara, Yoichi; Abe, Taiki; Kikuchi, Atsuo; Aoki, Yoko Share Save Share Save Temple Syndrome: Comprehensive Clinical Study in Genetically Confirmed 60 Japanese PatientsOgawa, Tomoe; Narusawa, Hiromune; Nagasaki, Keisuke; Kosaki, Rika; Naiki, Yasuhiro; Aramaki, Michihiko; Matsubara, Keiko; Nakamura, Akie; Fukami, Maki; Ogata, Tsutomu; Kagami, Masayo Share Save Share Save Comprehensive molecular and clinical findings in 29 patients with multi-locus imprinting disturbanceUrakawa, Tatsuki; Soejima, Hidenobu; Yamoto, Kaori; Hara-Isono, Kaori; Nakamura, Akie; Kawashima, Sayaka; Narusawa, Hiromune; Kosaki, Rika; Nishimura, Yutaka; Yamazawa, Kazuki; Hattori, Tetsuo; Muramatsu, Yukako; Inoue, Takanobu; Matsubara, Keiko; Fukami, Maki; Saitoh, Shinji; Ogata, Tsutomu; Kagami, Masayo Share Save Comprehensive Study on Central Precocious Puberty: Molecular and Clinical Analyses in 90 PatientsNarusawa, Hiromune; Ogawa, Tomoe; Yagasaki, Hideaki; Nagasaki, Keisuke; Urakawa, Tatsuki; Saito, Tomohiro; Soneda, Shun; Kinjo, Saori; Sano, Shinichiro; Mamada, Mitsukazu; Terashita, Shintaro; Dateki, Sumito; Narumi, Satoshi; Naiki, Yasuhiro; Horikawa, Reiko; Ogata, Tsutomu; Fukami, Maki; Kagami, Masayo Share Save Share Save Expression levels and DNA methylation profiles of the growth gene SHOX in cartilage tissues and chondrocytesHattori, Atsushi; Seki, Atsuhito; Inaba, Naoto; Nakabayashi, Kazuhiko; Takeda, Kazue; Tatsusmi, Kuniko; Naiki, Yasuhiro; Nakamura, Akie; Ishiwata, Keisuke; Matsumoto, Kenji; Nasu, Michiyo; Okamura, Kohji; Michigami, Toshimi; Katoh-Fukui, Yuko; Umezawa, Akihiro; Ogata, Tsutomu; Kagami, Masayo; Fukami, Maki Share Save Multiple TP53 p.R337H haplotypes and implications for tumor susceptibilityPinto, Emilia M.; Fridman, Cintia; Figueiredo, Bonald C.; Salvador, Hector; Teixeira, Manuel R.; Pinto, Carla; Pinheiro, Manuela; Kratz, Christian P.; Lavarino, Cinzia; Legal, Edith A. M. F.; Le, Anh; Kelly, Gregory; Koeppe, Erika; Stoffel, Elena M.; Breen, Kelsey; Hahner, Stefanie; Heinze, Britta; Techavichit, Piti; Krause, Amanda; Ogata, Tsutomu; Fujisawa, Yasuko; Walsh, Michael F.; Rana, Huma Q.; Maxwell, Kara N.; Garber, Judy E.; Rodriguez-Galindo, Carlos; Ribeiro, Raul C.; Zambetti, Gerard P. Share Save (Epi)genetic and clinical characteristics in 84 patients with pseudohypoparathyroidism type 1BUrakawa, Tatsuki; Sano, Shinichiro; Kawashima, Sayaka; Nakamura, Akie; Shima, Hirohito; Ohta, Motoki; Yamada, Yuki; Nishida, Ai; Narusawa, Hiromune; Ohtsu, Yoshiaki; Matsubara, Keiko; Dateki, Sumito; Maruo, Yoshihiro; Fukami, Maki; Ogata, Tsutomu; Kagami, Masayo Share Save Risk assessment of assisted reproductive technology and parental age at childbirth for the development of uniparental disomy-mediated imprinting disorders caused by aneuploid gametesHara-Isono, Kaori; Matsubara, Keiko; Nakamura, Akie; Sano, Shinichiro; Inoue, Takanobu; Kawashima, Sayaka; Fuke, Tomoko; Yamazawa, Kazuki; Fukami, Maki; Ogata, Tsutomu; Kagami, Masayo Share Save 
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