BCS1L mutations produce Fanconi syndrome with developmental disability von Kanako, Kojima-Ishii, Sakakibara, Nana, Murayama, Kei, Nagatani, Koji, Murata, Satoshi, Otake, Akira, Koga, Yasutoshi, Suzuki, Hisato, Uehara, Tomoko, Kosaki, Kenjiro, Yoshiura, Koh-Ichiro, Mishima, Hiroyuki, Ichimiya, Yuko, Mushimoto, Yuichi, Horinouchi, Tomoko, Nagano, China, Yamamura, Tomohiko, Iijima, Kazumoto, Nozu, Kandai

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Clinical features of autosomal recessive polycystic kidney disease in the Japanese population and analysis of splicing in PKHD1 gene for determination of phenotypes von Ishiko, Shinya, Morisada, Naoya, Kondo, Atsushi, Nagai, Sadayuki, Aoto, Yuya, Okada, Eri, Rossanti, Rini, Sakakibara, Nana, Nagano, China, Horinouchi, Tomoko, Yamamura, Tomohiko, Ninchoji, Takeshi, Kaito, Hiroshi, Hamada, Riku, Shima, Yuko, Nakanishi, Koichi, Matsuo, Masafumi, Iijima, Kazumoto, Nozu, Kandai

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Genetic Analysis of UGT1A1 Polymorphisms Using Preserved Dried Umbilical Cord for Assessing the Potential of Neonatal Jaundice as a Risk Factor for Autism Spectrum Disorder in Chil... von Horinouchi, Tomoko, Maeyama, Kaori, Nagai, Masashi, Mizobuchi, Masami, Takagi, Yasuko, Okada, Yuka, Kato, Takeshi, Nishimura, Mio, Kawasaki, Yoko, Yoshioka, Mieko, Takada, Satoshi, Matsumoto, Hisayuki, Nakamachi, Yuji, Saegusa, Jun, Fukushima, Sachiyo, Fujioka, Kazumichi, Tomioka, Kazumi, Nagase, Hiroaki, Nozu, Kandai, Iijima, Kazumoto, Nishimura, Noriyuki

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An “old and new” complication in a child with nephrotic syndrome: Answers von Inaguma, Yosuke, Kaito, Hiroshi, Horinouchi, Tomoko, Ogawa, Yoshiharu, Yoshida, Makiko, Yoshikawa, Norishige, Tanaka, Ryojiro

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An “old and new” complication in a child with nephrotic syndrome: Questions von Inaguma, Yosuke, Kaito, Hiroshi, Horinouchi, Tomoko, Ogawa, Yoshiharu, Yoshida, Makiko, Yoshikawa, Norishige, Tanaka, Ryojiro

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Detection of Splicing Abnormalities and Genotype-Phenotype Correlation in X-linked Alport Syndrome von Horinouchi, Tomoko, Nozu, Kandai, Yamamura, Tomohiko, Minamikawa, Shogo, Omori, Takashi, Nakanishi, Keita, Fujimura, Junya, Ashida, Akira, Kitamura, Mineaki, Kawano, Mitsuhiro, Shimabukuro, Wataru, Kitabayashi, Chizuko, Imafuku, Aya, Tamagaki, Keiichi, Kamei, Koichi, Okamoto, Kenjirou, Fujinaga, Shuichiro, Oka, Masafumi, Igarashi, Toru, Miyazono, Akinori, Sawanobori, Emi, Fujimaru, Rika, Nakanishi, Koichi, Shima, Yuko, Matsuo, Masafumi, Ye, Ming Juan, Nozu, Yoshimi, Morisada, Naoya, Kaito, Hiroshi, Iijima, Kazumoto

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Glomerular galactose-deficient IgA1 expression analysis in pediatric patients with glomerular diseases von Ishiko, Shinya, Horinouchi, Tomoko, Fujimaru, Rika, Shima, Yuko, Kaito, Hiroshi, Tanaka, Ryojiro, Ishimori, Shingo, Kondo, Atsushi, Nagai, Sadayuki, Aoto, Yuya, Sakakibara, Nana, Nagano, China, Yamamura, Tomohiko, Yoshimura, Momoka, Nakanishi, Koichi, Fujimura, Junya, Kamiyoshi, Naohiro, Nagase, Hiroaki, Yoshikawa, Norishige, Iijima, Kazumoto, Nozu, Kandai

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Cryptic exon activation in SLC12A3 in Gitelman syndrome von Nozu, Kandai, Nozu, Yoshimi, Nakanishi, Keita, Konomoto, Takao, Horinouchi, Tomoko, Shono, Akemi, Morisada, Naoya, Minamikawa, Shogo, Yamamura, Tomohiko, Fujimura, Junya, Nakanishi, Koichi, Ninchoji, Takeshi, Kaito, Hiroshi, Morioka, Ichiro, Taniguchi-Ikeda, Mariko, Vorechovsky, Igor, Iijima, Kazumoto

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Study protocol: mycophenolate mofetil as maintenance therapy after rituximab treatment for childhood-onset, complicated, frequently-relapsing nephrotic syndrome or steroid-dependen... von Horinouchi, Tomoko, Sako, Mayumi, Nakanishi, Koichi, Ishikura, Kenji, Ito, Shuichi, Nakamura, Hidefumi, Oba, Mari Saito, Nozu, Kandai, Iijima, Kazumoto

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Molecular assay for an intronic variant in NUP93 that causes steroid resistant nephrotic syndrome von Rossanti, Rini, Shono, Akemi, Miura, Kenichiro, Hattori, Motoshi, Yamamura, Tomohiko, Nakanishi, Keita, Minamikawa, Shogo, Fujimura, Junya, Horinouchi, Tomoko, Nagano, China, Sakakibara, Nana, Kaito, Hiroshi, Nagase, Hiroaki, Morisada, Naoya, Asanuma, Katsuhiko, Matsuo, Masafumi, Nozu, Kandai, Iijima, Kazumoto

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Comprehensive genetic analysis using next-generation sequencing for the diagnosis of nephronophthisis-related ciliopathies in the Japanese population von Sakakibara, Nana, Nozu, Kandai, Yamamura, Tomohiko, Horinouchi, Tomoko, Nagano, China, Ye, Ming Juan, Ishiko, Shinya, Aoto, Yuya, Rossanti, Rini, Hamada, Riku, Okamoto, Nobuhiko, Shima, Yuko, Nakanishi, Koichi, Matsuo, Masafumi, Iijima, Kazumoto, Morisada, Naoya

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Efficacy of combination therapy for childhood complicated focal IgA nephropathy von Aoto, Yuya, Ninchoji, Takeshi, Kaito, Hiroshi, Shima, Yuko, Fujimura, Junya, Kamiyoshi, Naohiro, Ishimori, Shingo, Nakanishi, Koichi, Minamikawa, Shogo, Ishiko, Shinya, Sakakibara, Nana, Nagano, China, Horinouchi, Tomoko, Yamamura, Tomohiko, Nagai, Sadayuki, Kondo, Atsushi, Inaguma, Yosuke, Tanaka, Ryojiro, Yoshikawa, Norishige, Iijima, Kazumoto, Nozu, Kandai

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Genetic background, recent advances in molecular biology, and development of novel therapy in Alport syndrome von Nozu, Kandai, Takaoka, Yutaka, Kai, Hirofumi, Takasato, Minoru, Yabuuchi, Kensuke, Yamamura, Tomohiko, Horinouchi, Tomoko, Sakakibara, Nana, Ninchoji, Takeshi, Nagano, China, Iijima, Kazumoto

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Comparison between conventional and comprehensive sequencing approaches for genetic diagnosis of Alport syndrome von Yamamura, Tomohiko, Nozu, Kandai, Minamikawa, Shogo, Horinouchi, Tomoko, Sakakibara, Nana, Nagano, China, Aoto, Yuya, Ishiko, Shinya, Nakanishi, Koichi, Shima, Yuko, Nagase, Hiroaki, Rossanti, Rini, Ye, Ming J., Nozu, Yoshimi, Ishimori, Shingo, Morisada, Naoya, Kaito, Hiroshi, Iijima, Kazumoto

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The Contribution of COL4A5 Splicing Variants to the Pathogenesis of X-Linked Alport Syndrome von Yamamura, Tomohiko, Horinouchi, Tomoko, Aoto, Yuya, Lennon, Rachel, Nozu, Kandai

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Utility of glomerular Gd-IgA1 staining for indistinguishable cases of IgA nephropathy or Alport syndrome von Ishiko, Shinya, Tanaka, Akihito, Takeda, Asami, Hara, Masayuki, Hamano, Naoto, Koizumi, Masahiro, Ueno, Toshinori, Hayashi, Hiroki, Kondo, Atsushi, Nagai, Sadayuki, Aoto, Yuya, Sakakibara, Nana, Nagano, China, Horinouchi, Tomoko, Yamamura, Tomohiko, Ninchoji, Takeshi, Shima, Yuko, Nakanishi, Koichi, Yoshikawa, Norishige, Iijima, Kazumoto, Nozu, Kandai

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FAT1 biallelic truncating mutation causes a non-syndromic proteinuria in a child von Rossanti, Rini, Watanabe, Toshio, Nagano, China, Hara, Shigeo, Horinouchi, Tomoko, Yamamura, Tomohiko, Sakakibara, Nana, Ninchoji, Takeshi, Iijima, Kazumoto, Nozu, Kandai

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Clinical and Genetic Characteristics in Patients With Gitelman Syndrome von Fujimura, Junya, Nozu, Kandai, Yamamura, Tomohiko, Minamikawa, Shogo, Nakanishi, Keita, Horinouchi, Tomoko, Nagano, China, Sakakibara, Nana, Nakanishi, Koichi, Shima, Yuko, Miyako, Kenichi, Nozu, Yoshimi, Morisada, Naoya, Nagase, Hiroaki, Ninchoji, Takeshi, Kaito, Hiroshi, Iijima, Kazumoto

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Clinical characteristics and long-term outcome of diarrhea-associated hemolytic uremic syndrome: a single center experience von Ninchoji, Takeshi, Nozu, Kandai, Nakanishi, Keita, Horinouchi, Tomoko, Fujimura, Junya, Yamamura, Tomohiko, Minamikawa, Shogo, Ishimori, Shingo, Nakanishi, Koichi, Yoshikawa, Norishige, Morioka, Ichiro, Kaito, Hiroshi, Iijima, Kazumoto

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4q25 Microdeletion with Axenfeld-Rieger Syndrome and Developmental Delay von Kawanami, Yukino, Horinouchi, Tomoko, Morisada, Naoya, Kato, Takeshi, Nozu, Kandai

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