Search Results - "Aizu, Katsuya"

Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance by Hosoe, Jun, Kadowaki, Hiroko, Miya, Fuyuki, Aizu, Katsuya, Kawamura, Tomoyuki, Miyata, Ichiro, Satomura, Kenichi, Ito, Takeru, Hara, Kazuo, Tanaka, Masaki, Ishiura, Hiroyuki, Tsuji, Shoji, Suzuki, Ken, Takakura, Minaka, Boroevich, Keith A, Tsunoda, Tatsuhiko, Yamauchi, Toshimasa, Shojima, Nobuhiro, Kadowaki, Takashi

“…The insulin receptor ( ) gene was analyzed in four patients with severe insulin resistance, revealing five novel mutations and a deletion that removed exon 2…”
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Pregnancy outcome of Japanese patients with glucokinase–maturity‐onset diabetes of the young by Hosokawa, Yuki, Higuchi, Shinji, Kawakita, Rie, Hata, Ikue, Urakami, Tatsuhiko, Isojima, Tsuyoshi, Takasawa, Kei, Matsubara, Yohei, Mizuno, Haruo, Maruo, Yoshihiro, Matsui, Katsuyuki, Aizu, Katsuya, Jinno, Kazuhiko, Araki, Shunsuke, Fujisawa, Yasuko, Osugi, Koji, Tono, Chikako, Takeshima, Yasuhiro, Yorifuji, Tohru

“…Aims/Introduction Glucokinase–maturity‐onset diabetes of the young (GCK‐MODY; also known as MODY2) is a benign hyperglycemic condition, which generally does…”
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Single-Exon Deletions of ZNRF3 Exon 2 Cause Congenital Adrenal Hypoplasia by Amano, Naoko, Narumi, Satoshi, Aizu, Katsuya, Miyazawa, Mari, Okamura, Kohji, Ohashi, Hirofumi, Katsumata, Noriyuki, Ishii, Tomohiro, Hasegawa, Tomonobu

“…Primary adrenal insufficiency (PAI) is a life-threatening condition characterized by the inability of the adrenal cortex to produce sufficient steroid…”
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Osteopenia caused by growth hormone deficiency in childhood by Mochizuki, Hiroshi, Aizu, Katsuya

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Efficacy and safety of long-term, continuous subcutaneous octreotide infusion for patients with different subtypes of KATP-channel hyperinsulinism by Yorifuji, Tohru, Kawakita, Rie, Hosokawa, Yuki, Fujimaru, Rika, Matsubara, Kousaku, Aizu, Katsuya, Suzuki, Shigeru, Nagasaka, Hironori, Nishibori, Hironori, Masue, Michiya

“…Summary Objective To evaluate the efficacy of long‐term, continuous, subcutaneous octreotide infusion for congenital hyperinsulinism caused by mutations in the…”
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Comprehensive molecular analysis of Japanese patients with pediatric-onset MODY-type diabetes mellitus by Yorifuji, Tohru, Fujimaru, Rika, Hosokawa, Yuki, Tamagawa, Nobuyoshi, Shiozaki, Momoko, Aizu, Katsuya, Jinno, Kazuhiko, Maruo, Yoshihiro, Nagasaka, Hironori, Tajima, Toshihiro, Kobayashi, Koji, Urakami, Tatsuhiko

“…Yorifuji T, Fujimaru R, Hosokawa Y, Tamagawa N, Shiozaki M, Aizu K, Jinno K, Maruo Y, Nagasaka H, Tajima T, Kobayashi K, Urakami T. Comprehensive molecular…”
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Clinical usefulness of multigene screening with phenotype-driven bioinformatics analysis for the diagnosis of patients with monogenic diabetes or severe insulin resistance by Hosoe, Jun, Miya, Fuyuki, Kadowaki, Hiroko, Fujiwara, Toyofumi, Suzuki, Ken, Kato, Takashi, Waki, Hironori, Sasako, Takayoshi, Aizu, Katsuya, Yamamura, Natsumi, Sasaki, Fusako, Kurano, Makoto, Hara, Kazuo, Tanaka, Masaki, Ishiura, Hiroyuki, Tsuji, Shoji, Honda, Kenjiro, Yoshimura, Jun, Morishita, Shinichi, Matsuzawa, Fumiko, Aikawa, Sei-Ichi, Boroevich, Keith A., Nangaku, Masaomi, Okada, Yukinori, Tsunoda, Tatsuhiko, Shojima, Nobuhiro, Yamauchi, Toshimasa, Kadowaki, Takashi

“…Monogenic diabetes is clinically heterogeneous and differs from common forms of diabetes (type 1 and 2). We aimed to investigate the clinical usefulness of a…”
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Low prevalence of maternal microchimerism in peripheral blood of Japanese children with type 1 diabetes by Ushijima, K., Okuno, M., Ayabe, T., Kikuchi, N., Kawamura, T., Urakami, T., Yokota, I., Amemiya, S., Uchiyama, T., Kikuchi, T., Ogata, T., Sugihara, S., Fukami, M.

“…Aim To clarify the prevalence and degree of maternal microchimerism in Japanese children with type 1 diabetes, as well as its effect on phenotypic variation…”
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Efficacy and safety of long‐term, continuous subcutaneous octreotide infusion for patients with different subtypes of K ATP ‐channel hyperinsulinism by Yorifuji, Tohru, Kawakita, Rie, Hosokawa, Yuki, Fujimaru, Rika, Matsubara, Kousaku, Aizu, Katsuya, Suzuki, Shigeru, Nagasaka, Hironori, Nishibori, Hironori, Masue, Michiya

“…Summary Objective To evaluate the efficacy of long‐term, continuous, subcutaneous octreotide infusion for congenital hyperinsulinism caused by mutations in the…”
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Refinement of the locus for X-linked recessive chondrodysplasia punctata by MUROYA, K, OGATA, T, RAPPOLD, G, KLINK, A, NAKAHORI, Y, FUKUSHIMA, Y, AIZU, K, MATSUO, N

“…Although the locus for X-linked recessive chondrodysplasia punctata (CDPX1) has been mapped to the region between PABX and DXS31 (the critical region is about…”
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