A genome-wide association study identifies RNF213 as the first Moyamoya disease gene
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
Published in Journal of human genetics (01.01.2011)
Published in Journal of human genetics (01.01.2011)
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Journal Article
A case of 49,XXXYY followed-up from infancy to adulthood with review of literature
Kanno, Junko, Miura, Akinobu, Kawashima, Sayaka, Shima, Hirohito, Suzuki, Dai, Kamimura, Miki, Fujiwara, Ikuma, Kamimura, Masayuki, Uematsu, Mitsugu, Kudo, Masataka, Kikuchi, Atsuo
Published in Endocrine Journal (01.01.2024)
Published in Endocrine Journal (01.01.2024)
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Journal Article
Trends in endogenous insulin secretion capacity and anti-islet autoantibody titers in two childhood-onset slowly progressive insulin-dependent diabetes mellitus cases
Suzuki, Dai, Shima, Hirohito, Kawashima, Sayaka, Kamimura, Miki, Kikuchi, Atsuo, Kanno, Junko
Published in Clinical Pediatric Endocrinology (2024)
Published in Clinical Pediatric Endocrinology (2024)
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Journal Article
Identification of clinical factors related to antibody‐mediated immune response to the subfornical organ
Nakamura‐Utsunomiya, Akari, Goda, Satoshi, Hayakawa, Seiichi, Sonoko, Sakata, Hoorn, Ewout J., Blanchard, Anne, Saito‐Hakoda, Akiko, Kakimoto, Haruna, Hachiya, Rumi, Kamimura, Miki, Kawakita, Rie, Higuchi, Shinji, Fujimaru, Rika, Shirai, Yoko, Miyaoka, Daichi, Nagata, Yuki, Kishi, Yutaro, Wada, Aya, Mitsuboshi, Akari, Ozaki, Kayo, Komatsu, Nagisa, Niizuma, Hidetaka, Kanno, Junko, Fujiwara, Ikuma, Hasegawa, Yukihiro, Yorifuji, Tohru, Brickman, Wendy, Vantyghem, Marie‐Christine, Yamaguchi, Kei, Goshima, Naoki, Hiyama, Takeshi Y.
Published in Clinical endocrinology (Oxford) (01.07.2022)
Published in Clinical endocrinology (Oxford) (01.07.2022)
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Journal Article
Familial Paget’s disease of bone with ocular manifestations and a novel TNFRSF11A duplication variant (72dup27)
Saito-Hakoda, Akiko, Kikuchi, Atsuo, Takahashi, Tadahisa, Yokoyama, Yu, Himori, Noriko, Adachi, Mika, Ikeda, Ryoukichi, Nomura, Yuri, Takayama, Jun, Kawashima, Junko, Katsuoka, Fumiki, Fujishima, Fumiyoshi, Yamaguchi, Takehiko, Ito, Akiyo, Hanita, Takushi, Kanno, Junko, Aizawa, Toshimi, Nakazawa, Toru, Kawase, Tetsuaki, Tamiya, Gen, Yamamoto, Masayuki, Fujiwara, Ikuma, Kure, Shigeo
Published in Journal of bone and mineral metabolism (01.03.2023)
Published in Journal of bone and mineral metabolism (01.03.2023)
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Journal Article
Investigation of TSH receptor blocking antibodies in childhood-onset atrophic autoimmune thyroiditis
Nagasaki, Keisuke, Nakamura, Akie, Yamauchi, Takeru, Kamasaki, Hotaka, Hara, Yosuke, Kanno, Junko, Koyama, Satomi, Ohtsu, Yoshiaki, Takahashi, Ikuko, Suzuki, Shigeru, Kashimada, Kenichi, Tajima, Toshihiro
Published in Clinical Pediatric Endocrinology (2021)
Published in Clinical Pediatric Endocrinology (2021)
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Journal Article
Hearing loss with two pathogenic SLC26A4 variants and positive thyroid autoantibody: a case report
Miura, Akinobu, Nakagawa, Tomohiro, Sogi, Chisumi, Shima, Hirohito, Adachi, Mika, Honkura, Yohei, Kikuchi, Atsuo, Kanno, Junko
Published in Clinical Pediatric Endocrinology (2024)
Published in Clinical Pediatric Endocrinology (2024)
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Journal Article
Idiopathic infantile hypercalcemia with a CYP24A1 variant triggered by vitamin D supplementation in fortified milk: a case report
Iwafuchi, Sota, Uchida, Nao, Saijo, Naoya, Sogi, Chisumi, Kamimura, Miki, Takayama, Jun, Tamiya, Gen, Kikuchi, Atsuo, Kanno, Junko
Published in Clinical Pediatric Endocrinology (2024)
Published in Clinical Pediatric Endocrinology (2024)
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Journal Article
Case Report: Infantile-Onset Fulminant Type 1 Diabetes Mellitus Caused by Novel Compound Heterozygous LRBA Variants
Totsune, Eriko, Nakano, Tomohiro, Moriya, Kunihiko, Sato, Daichi, Suzuki, Dai, Miura, Akinobu, Katayama, Saori, Niizuma, Hidetaka, Kanno, Junko, van Zelm, Menno C, Imai, Kohsuke, Kanegane, Hirokazu, Sasahara, Yoji, Kure, Shigeo
Published in Frontiers in immunology (12.04.2021)
Published in Frontiers in immunology (12.04.2021)
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Journal Article
A case of long-term survival of SADDAN treated with growth hormone for marked short stature
Kanno, Junko, Katata, Yu, Kawashima, Sayaka, Shima, Hirohito, Sogi, Chisumi, Umeki, Ikumi, Suzuki, Dai, Tomita, Hasumi, Kamimura, Miki, Saito-Hakoda, Akiko, Fujiwara, Ikuma, Hanita, Takushi, Kikuchi, Atsuo
Published in Clinical Pediatric Endocrinology (2024)
Published in Clinical Pediatric Endocrinology (2024)
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Journal Article
CHARGE syndrome in a child with a CHD7 variant and a novel pathogenic SOX2 variant: a case report
Kamimura, Miki, Shima, Hirohito, Suzuki, Erina, Sogi, Chisumi, Fujiwara, Ikuma, Adachi, Mika, Haruna, Hidenori, Takubo, Noriyuki, Fukami, Maki, Kikuchi, Atsuo, Kanno, Junko
Published in Clinical Pediatric Endocrinology (2024)
Published in Clinical Pediatric Endocrinology (2024)
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Journal Article
Solitary median maxillary central incisor syndrome caused by 22q11.2 microdeletion
Shima, Hirohito, Miura, Akinobu, Kawashima, Sayaka, Umeki, Ikumi, Sogi, Chisumi, Suzuki, Dai, Takezawa, Yusuke, Sato, Ryo, Arai-Ichinoi, Natsuko, Kamimura, Miki, Fujiwara, Ikuma, Adachi, Mika, Yamada, Aya, Kawame, Hiroshi, Kikuchi, Atsuo, Kanno, Junko
Published in Clinical Pediatric Endocrinology (2024)
Published in Clinical Pediatric Endocrinology (2024)
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Journal Article
Pathological variants in genes associated with disorders of sex development and central causes of hypogonadism in a whole-genome reference panel of 8380 Japanese individuals
Shiga, Naomi, Yamaguchi-Kabata, Yumi, Igeta, Saori, Yasuda, Jun, Tadaka, Shu, Minato, Takamichi, Watanabe, Zen, Kanno, Junko, Tamiya, Gen, Fuse, Nobuo, Kinoshita, Kengo, Kure, Shigeo, Kondo, Akiko, Tachibana, Masahito, Yamamoto, Masayuki, Yaegashi, Nobuo, Sugawara, Junichi
Published in Human genome variation (28.09.2022)
Published in Human genome variation (28.09.2022)
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Journal Article
A nationwide questionnaire survey targeting Japanese pediatric endocrinologists regarding transitional care in childhood, adolescent, and young adult cancer survivors
Miyoshi, Yoko, Yorifuji, Tohru, Shimizu, Chikako, Nagasaki, Keisuke, Kawai, Masanobu, Ishiguro, Hiroyuki, Okada, Satoshi, Kanno, Junko, Takubo, Noriyuki, Muroya, Koji, Ito, Junko, Horikawa, Reiko, Yokoya, Susumu, Ozono, Keiichi
Published in Clinical Pediatric Endocrinology (01.01.2020)
Published in Clinical Pediatric Endocrinology (01.01.2020)
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Journal Article
A case of 49,XXXYY followed-up from infancy to adulthood with review of literature
Junko Kanno, Akinobu Miura, Sayaka Kawashima, Hirohito Shima, Dai Suzuki, Miki Kamimura, Ikuma Fujiwara, Masayuki Kamimura, Mitsugu Uematsu, Masataka Kudo, Atsuo Kikuchi
Published in ENDOCRINE JOURNAL (2024)
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Published in ENDOCRINE JOURNAL (2024)
Journal Article
A follow-up during puberty in a Japanese girl with type A insulin resistance due to a novel mutation in INSR
Saito-Hakoda, Akiko, Nishii, Aki, Uchida, Takashi, Kikuchi, Atsuo, Kanno, Junko, Fujiwara, Ikuma, Kure, Shigeo
Published in Clinical Pediatric Endocrinology (2018)
Published in Clinical Pediatric Endocrinology (2018)
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Journal Article
Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri-Weill dyschondrosteosis
Shima, Hirohito, Tanaka, Toshiaki, Kamimaki, Tsutomu, Dateki, Sumito, Muroya, Koji, Horikawa, Reiko, Kanno, Junko, Adachi, Masanori, Naiki, Yasuhiro, Tanaka, Hiroyuki, Mabe, Hiroyo, Yagasaki, Hideaki, Kure, Shigeo, Matsubara, Yoichi, Tajima, Toshihiro, Kashimada, Kenichi, Ishii, Tomohiro, Asakura, Yumi, Fujiwara, Ikuma, Soneda, Shun, Nagasaki, Keisuke, Hamajima, Takashi, Kanzaki, Susumu, Jinno, Tomoko, Ogata, Tsutomu, Fukami, Maki
Published in Journal of human genetics (01.07.2016)
Published in Journal of human genetics (01.07.2016)
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Journal Article
A case of long-term survival of SADDAN treated with growth hormone for marked short stature
Junko Kanno, Yu Katata, Sayaka Kawashima, Hirohito Shima, Chisumi Sogi, Ikumi Umeki, Dai Suzuki, Hasumi Tomita, Miki Kamimura, Akiko Saito-Hakoda, Ikuma Fujiwara, Takushi Hanita, Atsuo Kikuchi
Published in Clinical Pediatric Endocrinology (01.07.2024)
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Published in Clinical Pediatric Endocrinology (01.07.2024)
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