A genome-wide association study identifies RNF213 as the first Moyamoya disease gene von Kamada, Fumiaki, Aoki, Yoko, Narisawa, Ayumi, Abe, Yu, Komatsuzaki, Shoko, Kikuchi, Atsuo, Kanno, Junko, Niihori, Tetsuya, Ono, Masao, Ishii, Naoto, Owada, Yuji, Fujimura, Miki, Mashimo, Yoichi, Suzuki, Yoichi, Hata, Akira, Tsuchiya, Shigeru, Tominaga, Teiji, Matsubara, Yoichi, Kure, Shigeo

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Ras/MAPK syndromes and childhood hemato-oncological diseases von Aoki, Yoko, Matsubara, Yoichi

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11-oxygenated C19 steroids as circulating androgens in women with polycystic ovary syndrome von Yoshida, Tomoko, Matsuzaki, Toshiya, Miyado, Mami, Saito, Kazuki, Iwasa, Takeshi, Matsubara, Yoichi, Ogata, Tsutomu, Irahara, Minoru, Fukami, Maki

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Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome von Aoki, Yoko, Niihori, Tetsuya, Banjo, Toshihiro, Okamoto, Nobuhiko, Mizuno, Seiji, Kurosawa, Kenji, Ogata, Tsutomu, Takada, Fumio, Yano, Michihiro, Ando, Toru, Hoshika, Tadataka, Barnett, Christopher, Ohashi, Hirofumi, Kawame, Hiroshi, Hasegawa, Tomonobu, Okutani, Takahiro, Nagashima, Tatsuo, Hasegawa, Satoshi, Funayama, Ryo, Nagashima, Takeshi, Nakayama, Keiko, Inoue, Shin-ichi, Watanabe, Yusuke, Ogura, Toshihiko, Matsubara, Yoichi

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STAT6 gain-of-function variant exacerbates multiple allergic symptoms von Takeuchi, Ichiro, Yanagi, Kumiko, Takada, Shuji, Uchiyama, Toru, Igarashi, Arisa, Motomura, Kenichiro, Hayashi, Yuka, Nagano, Naoko, Matsuoka, Ryo, Sugiyama, Hiroki, Yoshioka, Takako, Saito, Hirohisa, Kawai, Toshinao, Miyaji, Yumiko, Inuzuka, Yusuke, Matsubara, Yoichi, Ohya, Yukihiro, Shimizu, Toshiaki, Matsumoto, Kenji, Arai, Katsuhiro, Nomura, Ichiro, Kaname, Tadashi, Morita, Hideaki

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ZNF384-related fusion genes define a subgroup of childhood B-cell precursor acute lymphoblastic leukemia with a characteristic immunotype von Hirabayashi, Shinsuke, Ohki, Kentaro, Nakabayashi, Kazuhiko, Ichikawa, Hitoshi, Momozawa, Yukihide, Okamura, Kohji, Yaguchi, Akinori, Terada, Kazuki, Saito, Yuya, Yoshimi, Ai, Ogata-Kawata, Hiroko, Sakamoto, Hiromi, Kato, Motohiro, Fujimura, Junya, Hino, Moeko, Kinoshita, Akitoshi, Kakuda, Harumi, Kurosawa, Hidemitsu, Kato, Keisuke, Kajiwara, Ryosuke, Moriwaki, Koichi, Morimoto, Tsuyoshi, Nakamura, Kozue, Noguchi, Yasushi, Osumi, Tomoo, Sakashita, Kazuo, Takita, Junko, Yuza, Yuki, Matsuda, Koich, Yoshida, Teruhiko, Matsumoto, Kenji, Hata, Kenichiro, Kubo, Michiaki, Matsubara, Yoichi, Fukushima, Takashi, Koh, Katsuyoshi, Manabe, Atsushi, Ohara, Akira, Kiyokawa, Nobutaka

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Human genetic variation database, a reference database of genetic variations in the Japanese population von Higasa, Koichiro, Miyake, Noriko, Yoshimura, Jun, Okamura, Kohji, Niihori, Tetsuya, Saitsu, Hirotomo, Doi, Koichiro, Shimizu, Masakazu, Nakabayashi, Kazuhiko, Aoki, Yoko, Tsurusaki, Yoshinori, Morishita, Shinichi, Kawaguchi, Takahisa, Migita, Osuke, Nakayama, Keiko, Nakashima, Mitsuko, Mitsui, Jun, Narahara, Maiko, Hayashi, Keiko, Funayama, Ryo, Yamaguchi, Daisuke, Ishiura, Hiroyuki, Ko, Wen-Ya, Hata, Kenichiro, Nagashima, Takeshi, Yamada, Ryo, Matsubara, Yoichi, Umezawa, Akihiro, Tsuji, Shoji, Matsumoto, Naomichi, Matsuda, Fumihiko

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Biallelic CC2D2A variants, SNV and LINE-1 insertion simultaneously identified in siblings using long-read whole-genome sequencing and haplotype phasing von Yanagi, Kumiko, Coker, Jonathan, Miyana, Kaori, Aso, Seijiro, Kobayashi, Nana, Satou, Kazuhito, Richman, Adam, Indupuru, Suneel, Matsubara, Yoichi, Kaname, Tadashi

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Maternal Uniparental Disomy for Chromosome 20: Physical and Endocrinological Characteristics of Five Patients von Kawashima, Sayaka, Nakamura, Akie, Inoue, Takanobu, Matsubara, Keiko, Horikawa, Reiko, Wakui, Keiko, Takano, Kyoko, Fukushima, Yoshimitsu, Tatematsu, Toshi, Mizuno, Seiji, Tsubaki, Junko, Kure, Shigeo, Matsubara, Yoichi, Ogata, Tsutomu, Fukami, Maki, Kagami, Masayo

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Germline mutations in HRAS proto-oncogene cause Costello syndrome von Aoki, Yoko, Niihori, Tetsuya, Kawame, Hiroshi, Kurosawa, Kenji, Ohashi, Hirofumi, Tanaka, Yukichi, Filocamo, Mirella, Kato, Kumi, Suzuki, Yoichi, Kure, Shigeo, Matsubara, Yoichi

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Pixel-wise parallel calculation for depth from focus with adaptive focus measure von Matsubara, Yoichi, Shirai, Keiichiro, Ito, Yuya, Tanaka, Kiyoshi

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A novel missense variant of the GNAI3 gene and recognisable morphological characteristics of the mandibula in ARCND1 von Yanagi, Kumiko, Morimoto, Noriko, Iso, Manami, Abe, Yukimi, Okamura, Kohji, Nakamura, Tomoo, Matsubara, Yoichi, Kaname, Tadashi

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Efficacy and safety of two doses of Norditropin® (somatropin) in short stature due to Noonan syndrome: a 2-year randomized, double-blind, multicenter trial in Japanese patients von Ozono, Keiichi, Ogata, Tsutomu, Horikawa, Reiko, Matsubara, Yoichi, Ogawa, Yoshihisa, Nishijima, Keiji, Yokoya, Susumu

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Mutations of CYP1B1 and FOXC1 genes for childhood glaucoma in Japanese individuals von Fuse, Nobuo, Kimura, Masae, Shimizu, Ai, Koshiba, Seizo, Hamanaka, Teruhiko, Nakamura, Makoto, Ishida, Nobuo, Sakai, Hiroshi, Ikeda, Yoko, Mori, Kazuhiko, Endo, Atsushi, Nagasaki, Masao, Katsuoka, Fumiki, Yasuda, Jun, Matsubara, Yoichi, Nakazawa, Toru, Yamamoto, Masayuki

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Long-term efficacy and safety of two doses of Norditropin® (somatropin) in Noonan syndrome: a 4-year randomized, double-blind, multicenter trial in Japanese patients von Horikawa, Reiko, Ogata, Tsutomu, Matsubara, Yoichi, Yokoya, Susumu, Ogawa, Yoshihisa, Nishijima, Keiji, Endo, Takaaki, Ozono, Keiichi

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Next generation sequencing-based mutation screening of 86 patients with idiopathic short stature von Hattori, Atsushi, Katoh-Fukui, Yuko, Nakamura, Akie, Matsubara, Keiko, Kamimaki, Tsutomu, Tanaka, Hiroyuki, Dateki, Sumito, Adachi, Masanori, Muroya, Koji, Yoshida, Shinobu, Ida, Shinobu, Mitani, Marie, Nagasaki, Keisuke, Ogata, Tsutomu, Suzuki, Erina, Hata, Kenichiro, Nakabayashi, Kazuhiko, Matsubara, Yoichi, Narumi, Satoshi, Tanaka, Toshiaki, Fukami, Maki

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Recent advances in RASopathies von Aoki, Yoko, Niihori, Tetsuya, Inoue, Shin-ichi, Matsubara, Yoichi

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Recurrent de novo MAPK8IP3 variants cause neurological phenotypes von Iwasawa, Shinya, Yanagi, Kumiko, Kikuchi, Atsuo, Kobayashi, Yasuko, Haginoya, Kazuhiro, Matsumoto, Hiroshi, Kurosawa, Kenji, Ochiai, Masayuki, Sakai, Yasunari, Fujita, Atsushi, Miyake, Noriko, Niihori, Tetsuya, Shirota, Matsuyuki, Funayama, Ryo, Nonoyama, Shigeaki, Ohga, Shouichi, Kawame, Hiroshi, Nakayama, Keiko, Aoki, Yoko, Matsumoto, Naomichi, Kaname, Tadashi, Matsubara, Yoichi, Shoji, Wataru, Kure, Shigeo

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Functional analysis of RRAS2 pathogenic variants with a Noonan-like phenotype von Iida, Takaya, Igarashi, Arisa, Fukunaga, Kae, Aoki, Taiga, Hidai, Tomomi, Yanagi, Kumiko, Yamamori, Masahiko, Satou, Kazuhito, Go, Hayato, Kosho, Tomoki, Maki, Ryuto, Suzuki, Takashi, Nitta, Yohei, Sugie, Atsushi, Asaoka, Yoichi, Furutani-Seiki, Makoto, Kimura, Tetsuaki, Matsubara, Yoichi, Kaname, Tadashi

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New BRAF knockin mice provide a pathogenetic mechanism of developmental defects and a therapeutic approach in cardio-facio-cutaneous syndrome von Inoue, Shin-Ichi, Moriya, Mitsuji, Watanabe, Yusuke, Miyagawa-Tomita, Sachiko, Niihori, Tetsuya, Oba, Daiju, Ono, Masao, Kure, Shigeo, Ogura, Toshihiko, Matsubara, Yoichi, Aoki, Yoko

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