Somatic mosaicism of a CDKL5 mutation identified by next-generation sequencing von Kato, Takeshi, Morisada, Naoya, Nagase, Hiroaki, Nishiyama, Masahiro, Toyoshima, Daisaku, Nakagawa, Taku, Maruyama, Azusa, Fu, Xue Jun, Nozu, Kandai, Wada, Hiroko, Takada, Satoshi, Iijima, Kazumoto

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Early RAAS Blockade Exerts Renoprotective Effects in Autosomal Recessive Alport Syndrome von Uchida, Nao, Kumagai, Naonori, Nozu, Kandai, Fu, Xue Jun, Iijima, Kazumoto, Kondo, Yoshiaki, Kure, Shigeo

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Differential diagnosis of Bartter syndrome, Gitelman syndrome, and pseudo–Bartter/Gitelman syndrome based on clinical characteristics von Matsunoshita, Natsuki, Nozu, Kandai, Shono, Akemi, Nozu, Yoshimi, Fu, Xue Jun, Morisada, Naoya, Kamiyoshi, Naohiro, Ohtsubo, Hiromi, Ninchoji, Takeshi, Minamikawa, Shogo, Yamamura, Tomohiko, Nakanishi, Koichi, Yoshikawa, Norishige, Shima, Yuko, Kaito, Hiroshi, Iijima, Kazumoto

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Milder clinical aspects of X-linked Alport syndrome in men positive for the collagen IV α5 chain von Hashimura, Yuya, Nozu, Kandai, Kaito, Hiroshi, Nakanishi, Koichi, Fu, Xue Jun, Ohtsubo, Hiromi, Hashimoto, Fusako, Oka, Masafumi, Ninchoji, Takeshi, Ishimori, Shingo, Morisada, Naoya, Matsunoshita, Natsuki, Kamiyoshi, Naohiro, Yoshikawa, Norishige, Iijima, Kazumoto

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Somatic mosaicism for a mutation of the COL4A5 gene is a cause of mild phenotype male Alport syndrome von Krol, Rafal Przybyslaw, Nozu, Kandai, Nakanishi, Koichi, Iijima, Kazumoto, Takeshima, Yasuhiro, Fu, Xue Jun, Nozu, Yoshimi, Kaito, Hiroshi, Kanda, Kyoko, Matsuo, Masafumi, Yoshikawa, Norishige

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Natural history of genetically proven autosomal recessive Alport syndrome von Oka, Masafumi, Nozu, Kandai, Kaito, Hiroshi, Fu, Xue Jun, Nakanishi, Koichi, Hashimura, Yuya, Morisada, Naoya, Yan, Kunimasa, Matsuo, Masafumi, Yoshikawa, Norishige, Vorechovsky, Igor, Iijima, Kazumoto

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X-linked Alport syndrome caused by splicing mutations in COL4A5 von Nozu, Kandai, Vorechovsky, Igor, Kaito, Hiroshi, Fu, Xue Jun, Nakanishi, Koichi, Hashimura, Yuya, Hashimoto, Fusako, Kamei, Koichi, Ito, Shuichi, Kaku, Yoshitsugu, Imasawa, Toshiyuki, Ushijima, Katsumi, Shimizu, Junya, Makita, Yoshio, Konomoto, Takao, Yoshikawa, Norishige, Iijima, Kazumoto

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Enamel-renal syndrome associated with hypokalaemic metabolic alkalosis and impaired renal concentration: a novel syndrome? von Fu, Xue Jun, Nozu, Kandai, Goji, Katsumi, Ikeda, Kazushige, Kamioka, Ichiro, Fujita, Teruo, Kaito, Hiroshi, Nishio, Hisahide, Iijima, Kazumoto, Matsuo, Masafumi

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Natural History and Genotype-Phenotype Correlation in Female X-Linked Alport Syndrome von Yamamura, Tomohiko, Nozu, Kandai, Fu, Xue Jun, Nozu, Yoshimi, Ye, Ming Juan, Shono, Akemi, Yamanouchi, Satoko, Minamikawa, Shogo, Morisada, Naoya, Nakanishi, Koichi, Shima, Yuko, Yoshikawa, Norishige, Ninchoji, Takeshi, Morioka, Ichiro, Kaito, Hiroshi, Iijima, Kazumoto

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Somatic mosaicism and variant frequency detected by next-generation sequencing in X-linked Alport syndrome von Fu, Xue Jun, Nozu, Kandai, Kaito, Hiroshi, Ninchoji, Takeshi, Morisada, Naoya, Nakanishi, Koichi, Yoshikawa, Norishige, Ohtsubo, Hiromi, Matsunoshita, Natsuki, Kamiyoshi, Naohiro, Matsumura, Chieko, Takagi, Nobuaki, Maekawa, Kohei, Taniguchi-Ikeda, Mariko, Iijima, Kazumoto

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A novel mutation in KCNJ1 in a Bartter syndrome case diagnosed as pseudohypoaldosteronism von Nozu, Kandai, Fu, Xue Jun, Kaito, Hiroshi, Kanda, Kyoko, Yokoyama, Naoki, Przybyslaw Krol, Rafal, Nakajima, Toshihiro, Kajiyama, Mizutaka, Iijima, Kazumoto, Matsuo, Masafumi

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X-linked Alport syndrome associated with a synonymous p.Gly292Gly mutation alters the splicing donor site of the type IV collagen alpha chain 5 gene von Fu, Xue Jun, Nozu, Kandai, Eguchi, Aya, Nozu, Yoshimi, Morisada, Naoya, Shono, Akemi, Taniguchi-Ikeda, Mariko, Shima, Yuko, Nakanishi, Koichi, Vorechovsky, Igor, Iijima, Kazumoto

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In vivo and in vitro splicing assay of SLC12A1 in an antenatal salt-losing tubulopathy patient with an intronic mutation von Nozu, Kandai, Iijima, Kazumoto, Kawai, Kazuo, Nozu, Yoshimi, Nishida, Atsushi, Takeshima, Yasuhiro, Fu, Xue Jun, Hashimura, Yuya, Kaito, Hiroshi, Nakanishi, Koichi, Yoshikawa, Norishige, Matsuo, Masafumi

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Alport syndrome caused by a COL4A5 deletion and exonization of an adjacent AluY von Nozu, Kandai, Iijima, Kazumoto, Ohtsuka, Yasufumi, Fu, Xue Jun, Kaito, Hiroshi, Nakanishi, Koichi, Vorechovsky, Igor

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A Deep Intronic Mutation in the SLC12A3 Gene Leads to Gitelman Syndrome von Nozu, Kandai, Iijima, Kazumoto, Nozu, Yoshimi, Ikegami, Ei, Imai, Takehide, Fu, Xue Jun, Kaito, Hiroshi, Nakanishi, Koichi, Yoshikawa, Norishige, Matsuo, Masafumi

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OCRL1 mutations in patients with Dent disease phenotype in Japan von Sekine, Takashi, Nozu, Kandai, Iyengar, Rashmi, Fu, Xue Jun, Matsuo, Masafumi, Tanaka, Ryojiro, Iijima, Kazumoto, Matsui, Emiko, Harita, Yutaka, Inatomi, Jun, Igarashi, Takashi

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Molecular analysis of patients with type III bartter syndrome : Picking up large heterozygous deletions with semiquantitative PCR von NOZU, Kandai, XUE JUN FU, HAYASHI, Yoshiki, SATOMURA, Kenichi, SHIMIZU, Nobuhiko, IIJIMA, Kazumoto, MATSUO, Masafumi, NAKANISHI, Koichi, YOSHIKAWA, Norishige, KAITO, Hiroshi, KANDA, Kyoko, PRZYBYSLAW KROL, Rafal, MIYASHITA, Ritsuko, KAMITSUJI, Hidekazu, KANDA, Shoichiro

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Atypical phenotype of type I Bartter syndrome accompanied by focal segmental glomerulosclerosis von Yamazaki, Hajime, Nozu, Kandai, Narita, Ichiei, Nagata, Michio, Nozu, Yoshimi, Fu, Xue Jun, Matsuo, Masafumi, Iijima, Kazumoto, Gejyo, Fumitake

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Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome von Kamiyoshi, Naohiro, Nozu, Kandai, Fu, Xue Jun, Morisada, Naoya, Nozu, Yoshimi, Ye, Ming Juan, Imafuku, Aya, Miura, Kenichiro, Yamamura, Tomohiko, Minamikawa, Shogo, Shono, Akemi, Ninchoji, Takeshi, Morioka, Ichiro, Nakanishi, Koichi, Yoshikawa, Norishige, Kaito, Hiroshi, Iijima, Kazumoto

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Clinicopathological, treatment, and prognosis study of 43 gastric neuroendocrine carcinomas von Liu, De-Jun, Fu, Xue-Liang, Liu, Wei, Zheng, Lu-Ying, Zhang, Jun-Feng, Huo, Yan-Miao, Li, Jiao, Hua, Rong, Liu, Qiang, Sun, Yong-Wei

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