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59 results for Morisada,+Naoya

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What is the cause of kidney dysfunction in a newborn with trisomy 21? Questions
Author / Creator:Tao, Katsuo ; Morisada, Naoya ; Awazu, Midori
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Pediatric nephrology (Berlin, West), 2022-02, Vol.37 (2), p.351-352
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What is the cause of kidney dysfunction in a newborn with trisomy 21? Answers
Author / Creator:Tao, Katsuo ; Morisada, Naoya ; Awazu, Midori
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Pediatric nephrology (Berlin, West), 2022-02, Vol.37 (2), p.353-355
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Phenotype–genotype correlation in patients with typical and atypical branchio-oto-renal syndrome
Author / Creator:Masuda, Masatsugu ; Kanno, Ayako ; Nara, Kiyomitsu ; Mutai, Hideki ; Morisada, Naoya ; Iijima, Kazumoto ; Morimoto, Noriko ; Nakano, Atsuko ; Sugiuchi, Tomoko ; Okamoto, Yasuhide ; Masuda, Sawako ; Katsunuma, Sayaka ; Ogawa, Kaoru ; Matsunaga, Tatsuo
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2022-01, Vol.12 (1), p.969-10, Article 969
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Examination of the predicted prevalence of Gitelman syndrome by ethnicity based on genome databases
Author / Creator:Kondo, Atsushi ; Nagano, China ; Ishiko, Shinya ; Omori, Takashi ; Aoto, Yuya ; Rossanti, Rini ; Sakakibara, Nana ; Horinouchi, Tomoko ; Yamamura, Tomohiko ; Nagai, Sadayuki ; Okada, Eri ; Shima, Yuko ; Nakanishi, Koichi ; Ninchoji, Takeshi ; Kaito, Hiroshi ; Takeda, Hiroki ; Nagase, Hiroaki ; Morisada, Naoya ; Iijima, Kazumoto ; Nozu, Kandai
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2021-08, Vol.11 (1), p.16099-7, Article 16099
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Development of an exon skipping therapy for X-linked Alport syndrome with truncating variants in COL4A5
Author / Creator:Yamamura, Tomohiko ; Horinouchi, Tomoko ; Adachi, Tomomi ; Terakawa, Maki ; Takaoka, Yutaka ; Omachi, Kohei ; Takasato, Minoru ; Takaishi, Kiyosumi ; Shoji, Takao ; Onishi, Yoshiyuki ; Kanazawa, Yoshito ; Koizumi, Makoto ; Tomono, Yasuko ; Sugano, Aki ; Shono, Akemi ; Minamikawa, Shogo ; Nagano, China ; Sakakibara, Nana ; Ishiko, Shinya ; Aoto, Yuya ; Kamura, Misato ; Harita, Yutaka ; Miura, Kenichiro ; Kanda, Shoichiro ; Morisada, Naoya ; Rossanti, Rini ; Ye, Ming Juan ; Nozu, Yoshimi ; Matsuo, Masafumi ; Kai, Hirofumi ; Iijima, Kazumoto ; Nozu, Kandai
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2020-06, Vol.11 (1), p.2777-8, Article 2777
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ArticlesPeer ReviewedFull Text
Clinical and genetic variability of PAX2-related disorder in the Japanese population
Author / Creator:Rini, Rossanti ; Morisada Naoya ; Nozu Kandai ; Kamei Koichi ; Horinouchi Tomoko ; Yamamura Tomohiko ; Minamikawa Shogo ; Fujimura Junya ; Nagano China ; Sakakibara Nana ; Ninchoji Takeshi ; Kaito Hiroshi ; Ito Shuichi ; Tanaka Ryojiro ; Iijima Kazumoto
Publisher:London: Nature Publishing Group
Journal title:Journal of human genetics, 2020-06, Vol.65 (6), p.541-549
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Differential diagnosis of Bartter syndrome, Gitelman syndrome, and pseudo–Bartter/Gitelman syndrome based on clinical characteristics
Author / Creator: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
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2016-02, Vol.18 (2), p.180-188
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Milder clinical aspects of X-linked Alport syndrome in men positive for the collagen IV α5 chain
Author / Creator: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
Publisher:United States: Elsevier Inc
Journal title:Kidney international, 2014-05, Vol.85 (5), p.1208-1213
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Characterization of contiguous gene deletions in COL4A6 and COL4A5 in Alport syndrome-diffuse leiomyomatosis
Author / Creator:Nozu, Kandai ; Minamikawa, Shogo ; Yamada, Shiro ; Oka, Masafumi ; Yanagita, Motoko ; Morisada, Naoya ; Fujinaga, Shuichiro ; Nagano, China ; Gotoh, Yoshimitsu ; Takahashi, Eihiko ; Morishita, Takahiro ; Yamamura, Tomohiko ; Ninchoji, Takeshi ; Kaito, Hiroshi ; Morioka, Ichiro ; Nakanishi, Koichi ; Vorechovsky, Igor ; Iijima, Kazumoto
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2017-07, Vol.62 (7), p.733-735
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Association between the clinical presentation of congenital anomalies of the kidney and urinary tract (CAKUT) and gene mutations: an analysis of 66 patients at a single institution
Author / Creator:Ishiwa, Sho ; Sato, Mai ; Morisada, Naoya ; Nishi, Kentaro ; Kanamori, Toru ; Okutsu, Mika ; Ogura, Masao ; Sako, Mayumi ; Kosuga, Motomichi ; Kamei, Koichi ; Ito, Shuichi ; Nozu, Kandai ; Iijima, Kazumoto ; Ishikura, Kenji
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Pediatric nephrology (Berlin, West), 2019-08, Vol.34 (8), p.1457-1464
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ArticlesPeer ReviewedFull Text
Cryptic exon activation in SLC12A3 in Gitelman syndrome
Author / Creator: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
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2017-02, Vol.62 (2), p.335-337
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ArticlesPeer ReviewedFull Text
End-stage ADPKD with a low-frequency PKD1 mosaic variant accelerated by chemoradiotherapy
Publisher:London: Springer Nature B.V
Journal title:Human genome variation, 2024-03, Vol.11 (1), p.17
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Natural history of genetically proven autosomal recessive Alport syndrome
Author / Creator: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
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Pediatric nephrology (Berlin, West), 2014-09, Vol.29 (9), p.1535-1544
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Comprehensive genetic analysis using next-generation sequencing for the diagnosis of nephronophthisis-related ciliopathies in the Japanese population
Author / Creator: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
Publisher:London: Nature Publishing Group
Journal title:Journal of human genetics, 2022-07, Vol.67 (7), p.427-440
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Clinical characteristics of HNF1B-related disorders in a Japanese population
Author / Creator:Nagano, China ; Morisada, Naoya ; Nozu, Kandai ; Kamei, Koichi ; Tanaka, Ryojiro ; Kanda, Shoichiro ; Shiona, Shinichi ; Araki, Yoshinori ; Ohara, Shinichiro ; Matsumura, Chieko ; Kasahara, Katsuaki ; Mori, Yukiko ; Seo, Akane ; Miura, Kenichiro ; Washiyama, Miki ; Sugimoto, Keisuke ; Harada, Ryoko ; Tazoe, Satoshi ; Kourakata, Hiroyo ; Enseki, Mayumi ; Aotani, Daisuke ; Yamada, Takeshi ; Sakakibara, Nana ; Yamamura, Tomohiko ; Minamikawa, Shogo ; Ishikura, Kenji ; Ito, Shuichi ; Hattori, Motoshi ; Iijima, Kazumoto
Publisher:Tokyo: Springer Nature B.V
Journal title:Clinical and experimental nephrology, 2019-09, Vol.23 (9), p.1119-1129
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Molecular assay for an intronic variant in NUP93 that causes steroid resistant nephrotic syndrome
Author / Creator: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
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2019-07, Vol.64 (7), p.673-679
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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
Author / Creator:Ishiko Shinya ; Morisada Naoya ; Kondo Atsushi ; Nagai Sadayuki ; Aoto Yuya ; Okada Eri ; Rini, Rossanti ; Sakakibara Nana ; Nagano China ; Horinouchi Tomoko ; Yamamura Tomohiko ; Ninchoji Takeshi ; Kaito Hiroshi ; Hamada Riku ; Shima Yuko ; Nakanishi Koichi ; Matsuo Masafumi ; Iijima Kazumoto ; Nozu Kandai
Publisher:Tokyo: Springer Nature B.V
Journal title:Clinical and experimental nephrology, 2022-02, Vol.26 (2), p.140-153
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Pathogenic evaluation of synonymous COL4A5 variants in X-linked Alport syndrome using a minigene assay
Author / Creator:Horinouchi, Tomoko ; Yamamura, Tomohiko ; Minamikawa, Shogo ; Nagano, China ; Sakakibara, Nana ; Nakanishi, Koichi ; Shima, Yuko ; Morisada, Naoya ; Ishiko, Shinya ; Aoto, Yuya ; Nagase, Hiroaki ; Takeda, Hiroki ; Rossanti, Rini ; Ishimori, Shingo ; Kaito, Hiroshi ; Matsuo, Masafumi ; Iijima, Kazumoto ; Nozu, Kandai
Publisher:United States: Wiley
Journal title:Molecular Genetics & Genomic Medicine, 2020-08, Vol.8 (8), p.e1342-n/a
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Molecular mechanisms determining severity in patients with Pierson syndrome
Author / Creator:Minamikawa Shogo ; Miwa Saori ; Inagaki Tetsuji ; Nishiyama Kei ; Kaito Hiroshi ; Ninchoji Takeshi ; Yamamura Tomohiko ; Nagano China ; Sakakibara Nana ; Ishimori Shingo ; Hara Shigeo ; Yoshikawa Norishige ; Hirano Daishi ; Harada Ryoko ; Hamada Riku ; Matsunoshita Natsuki ; Nagata Michio ; Shima Yuko ; Nakanishi Koichi ; Nagase Hiroaki ; Takeda Hiroki ; Morisada Naoya ; Iijima Kazumoto ; Nozu Kandai
Publisher:London: Nature Publishing Group
Journal title:Journal of human genetics, 2020-04, Vol.65 (4), p.355-362
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Clinically diverse phenotypes and genotypes of patients with branchio-oto-renal syndrome
Author / Creator:Ai Unzaki ; Morisada, Naoya ; Nozu, Kandai ; Ming Juan Ye ; Ito, Shuichi ; Matsunaga, Tatsuo ; Ishikura, Kenji ; Shihomi Ina ; Nagatani, Koji ; Okamoto, Takayuki ; Inaba, Yuji ; Ito, Naoko ; Igarashi, Toru ; Kanda, Shoichiro ; Ito, Ken ; Omune, Kohei ; Iwaki, Takuma ; Ueno, Kazuyuki ; Yahata, Mayumi ; Ohtsuka, Yasufumi ; Nishi, Eriko ; Takahashi, Nobuya ; Ishikawa, Tomoaki ; Goto, Shunsuke ; Okamoto, Nobuhiko ; Iijima, Kazumoto
Publisher:London: Nature Publishing Group
Journal title:Journal of human genetics, 2018-05, Vol.63 (5), p.647-656
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What is the cause of kidney dysfunction in a newborn with trisomy 21? Questions

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What is the cause of kidney dysfunction in a newborn with trisomy 21? Answers

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Phenotype–genotype correlation in patients with typical and atypical branchio-oto-renal syndrome

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Examination of the predicted prevalence of Gitelman syndrome by ethnicity based on genome databases

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Development of an exon skipping therapy for X-linked Alport syndrome with truncating variants in COL4A5

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Clinical and genetic variability of PAX2-related disorder in the Japanese population

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Differential diagnosis of Bartter syndrome, Gitelman syndrome, and pseudo–Bartter/Gitelman syndrome based on clinical characteristics

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Milder clinical aspects of X-linked Alport syndrome in men positive for the collagen IV α5 chain

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Characterization of contiguous gene deletions in COL4A6 and COL4A5 in Alport syndrome-diffuse leiomyomatosis

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Association between the clinical presentation of congenital anomalies of the kidney and urinary tract (CAKUT) and gene mutations: an analysis of 66 patients at a single institution

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Cryptic exon activation in SLC12A3 in Gitelman syndrome

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End-stage ADPKD with a low-frequency PKD1 mosaic variant accelerated by chemoradiotherapy

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Natural history of genetically proven autosomal recessive Alport syndrome

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Comprehensive genetic analysis using next-generation sequencing for the diagnosis of nephronophthisis-related ciliopathies in the Japanese population

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Clinical characteristics of HNF1B-related disorders in a Japanese population

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Molecular assay for an intronic variant in NUP93 that causes steroid resistant nephrotic syndrome

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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

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Pathogenic evaluation of synonymous COL4A5 variants in X-linked Alport syndrome using a minigene assay

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Molecular mechanisms determining severity in patients with Pierson syndrome

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Clinically diverse phenotypes and genotypes of patients with branchio-oto-renal syndrome

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