Morisada Naoya 森貞直哉

… Alternative Names

森貞直哉モリサダナオヤ

MORISADA Naoya 森貞直哉

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Researcher Number	00389446
Other IDs
Affiliation (Current)	2025: 神戸大学, 医学研究科, 客員准教授
Affiliation (based on the past Project Information) *help	2022 – 2023: 神戸大学, 医学研究科, 客員准教授 2016 – 2020: 神戸大学, 医学研究科, 客員准教授 2015: 神戸大学, 医学(系)研究科(研究院), 准教授 2010: 神戸大学, 大学院・医学研究科, 助教 2008 – 2009: University of Occupational and Environmental Health, Japan, 医学部, 非常勤医師
Review Section/Research Field	Principal Investigator Basic Section 53040:Nephrology-related / Kidney internal medicine Except Principal Investigator Kidney internal medicine
Keywords	Principal Investigator 遺伝カウンセリング / 次世代シークエンサー / 嚢胞性腎疾患 / 慢性腎疾患 / ネフロン癆 / 核酸医薬 / 遺伝性腎疾患 / 嚢胞腎 / ゲノム解析 / 遺伝性間質性腎疾患 … More / 常染色体優性間質性腎疾患 / 遺伝子解析 / NPHP-RC / 繊毛病 / 先天性腎尿路異常 / 小児CKD / CAKUT / Angiotensin II / EMT(上皮間葉形質転換) / UUO(片側尿管結紮) / NOS(一酸化窒素合成酵素) / レニン・アンギオテンシン系 / 片側尿管結紮 / 腎間質線維化 / 一酸化窒素合成酵素 … More Except Principal Investigator 多嚢胞性異形成腎(MCDK) / TCF2 / genome-wide CNV array / copy number variation(CNV) / microduplication / microdeletion / copy number variation (CNV) / 先天性腎尿路奇形(CAKUT) / 原因遺伝子 / CNV解析 / 先天性腎尿路奇形 Less

Construction of genomic medical infrastructure and development of specific treatments for pediatric polycystic kidney diseasePrincipal Investigator
- Principal Investigator
  
  森貞直哉
- Project Period (FY)
  2022 – 2025
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 53040:Nephrology-related
- Research Institution
  Kobe University
Construction of infrastructure for genomic medicine in autosomal dominant tubulointerstitial kidney diseasePrincipal Investigator
- Principal Investigator
  
  MORISADA Naoya
- Project Period (FY)
  2018 – 2020
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 53040:Nephrology-related
- Research Institution
  Kobe University
Identification of new causative gene for congenital anomalies of the kidney and urinary tract (CAKUT) and elucidation for pathology of CAKUT by iPS cellsPrincipal Investigator
- Principal Investigator
  
  Morisada Naoya
- Project Period (FY)
  2015 – 2017
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Kidney internal medicine
- Research Institution
  Kobe University
Identification of novel genes for congenital anomalies of Kidney and urinary tract (CAKUT) by CNV analyses and development of comprehensive gene testing for CAKUT
- Principal Investigator
  
  IIJIMA Kazumoto
- Project Period (FY)
  2008 – 2010
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Kidney internal medicine
- Research Institution
  Kobe University
Genetic disruption of all nitric oxide synthase isoforms causes accelerated renal interstitial fibrosis in mice in vivoPrincipal Investigator
- Principal Investigator
  
  MORISADA Naoya
- Project Period (FY)
  2008 – 2009
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Kidney internal medicine
- Research Institution
  University of Occupational and Environmental Health, Japan

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All Journal Article Presentation Book

[Book] 遺伝性甲状腺疾患のすべて2021
- Author(s)
  深田修司（共著　森貞直哉）
- Total Pages
  408
- Publisher
  日本医事新報社
- ISBN
  9784784959853
- Data Source
  KAKENHI-PROJECT-18K08243
[Book] 腎と透析【多発性嚢胞腎-基礎と臨床のトピックス】臨床　遺伝カウンセリングの実際2016
- Author(s)
  森貞直哉、飯島一誠
- Total Pages
  1080
- Publisher
  東京医学社
- Data Source
  KAKENHI-PROJECT-15K09261
[Book] 腎臓内科・泌尿器科　CAKUT2016
- Author(s)
  森貞直哉、飯島一誠
- Total Pages
  114
- Publisher
  科学評論社
- Data Source
  KAKENHI-PROJECT-15K09261
[Book] 小児疾患診療のための病態生理2　改訂5版2015
- Author(s)
  森貞直哉、飯島一誠
- Total Pages
  1120
- Publisher
  東京医学社
- Data Source
  KAKENHI-PROJECT-15K09261
[Book] こどもの病気　遺伝について聞かれたら2015
- Author(s)
  森貞直哉
- Total Pages
  260
- Publisher
  診断と治療社
- Data Source
  KAKENHI-PROJECT-15K09261
[Journal Article] Novel Digenic Variants in COL4A4 and COL4A5 Causing X-Linked Alport Syndrome: A Case Report2024
- Author(s)
 Uedono Hideki、Mori Katsuhito、Nakatani Shinya、Watanabe Kohei、Nakaya Rino、Morioka Fumiyuki、Sone Kazuma、Ono Chie、Hotta Junko、Tsuda Akihiro、Morisada Naoya、Seto Toshiyuki、Nozu Kandai、Emoto Masanori
- Journal Title
 
 Case Reports in Nephrology and Dialysis
 
 Volume: 14 Issue: 1 Pages: 1-9
- DOI
 10.1159/000535493
- Peer Reviewed
- Data Source
 KAKENHI-PROJECT-22K08334, KAKENHI-PROJECT-22K08351
[Journal Article] End-stage ADPKD with a low-frequency PKD1 mosaic variant accelerated by chemoradiotherapy2024
- Author(s)
  Hanafusa Hiroaki、Yamaguchi Hiroshi、Morisada Naoya、YE Ming Juan、Matsumoto Riki、Nagase Hiroaki、Nozu Kandai
- Journal Title
  
  Human Genome Variation
  
  Volume: 11 Issue: 1 Pages: 17-17
- DOI
  10.1038/s41439-024-00273-0
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22K08351
[Journal Article] Genetic autopsy and genetic counseling for a case of fatal oligohydramnios due to de novo 17q12 deletion syndrome2023
- Author(s)
  Hiromoto Kana、Morisada Naoya、Tairaku Shinya、Nozu Kandai、Iijima Kazumoto、Funakoshi Toru
- Journal Title
  
  Journal of Obstetrics and Gynaecology Research
  
  Volume: 49 Issue: 6 Pages: 1624-1627
- DOI
  10.1111/jog.15634
- Data Source
  KAKENHI-PROJECT-22K08351
[Journal Article] Comprehensive genetic analysis using next-generation sequencing for the diagnosis of nephronophthisis-related ciliopathies in the Japanese population2022
- Author(s)
  Sakakibara N, Nozu K, Yamamura T, Horinouchi T, Nagano C, Ye MJ, Ishiko S, Aoto Y, Rossanti R, Hamada R, Okamoto N, Shima Y, Nakanishi K, Matsuo M, Iijima K, Morisada N.
- Journal Title
  
  J Hum Genet.
  
  Volume: - Issue: 7 Pages: 427-440
- DOI
  10.1038/s10038-022-01020-5
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K07799, KAKENHI-PROJECT-22K08351
[Journal Article] Cite Share Detecting MUC1 Variants in Patients Clinicopathologically Diagnosed With Having Autosomal Dominant Tubulointerstitial Kidney Disease2022
- Author(s)
  Okada E, Morisada N, Horinouchi T, Fujii H, Tsuji T, Miura M, Katori H, Kitagawa M, Morozumi K, Toriyama T, Nakamura Y, Nishikomori R, Nagai S, Kondo A, Aoto Y, Ishiko S, Rossanti R, Sakakibara N, Nagano C, Yamamura T, Ishimori S, Usui J, Yamagata K, Iijima K, Imasawa T, Nozu K.
- Journal Title
  
  Kidney Int Rep.
  
  Volume: 7 Issue: 4 Pages: 857-866
- DOI
  10.1016/j.ekir.2021.12.037
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20K16892, KAKENHI-PROJECT-22K08351, KAKENHI-PROJECT-23K21401
[Journal Article] A case of Potter sequence with WT1 mutation2022
- Author(s)
  Yoshino Miwa、Shimabukuro Wataru、Takeichi Mina、Omura Junya、Yokota Chie、Yamamoto Junko、Nakanishi Koichi、Morisada Naoya、Nozu Kandai、Iijima Kazumoto、Takahashi Yasuhiko
- Journal Title
  
  CEN Case Reports
  
  Volume: 12 Issue: 2 Pages: 184-188
- DOI
  10.1007/s13730-022-00742-x
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22K08351
[Journal Article] Autosomal Dominant Tubulointerstitial Kidney Disease HNF1B With Maturity-Onset Diabetes of the Young: A Case Report With Kidney Biopsy2021
- Author(s)
  Oba Yuki、Sawa Naoki、Mizuno Hiroki、Hoshino Junichi、Kinowaki Keiichi、Ohashi Kenichi、Morisada Naoya、Iijima Kazumoto、Yamaguchi Yutaka、Ubara Yoshifumi
- Journal Title
  
  Kidney Medicine
  
  Volume: 3 Issue: 2 Pages: 278-281
- DOI
  10.1016/j.xkme.2020.10.007
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K08243
[Journal Article] Infantile spasms and early-onset progressive polycystic renal lesions associated with TSC2/PKD1 contiguous gene deletion syndrome2021
- Author(s)
  Matsubara Yoshie、Akamine Satoshi、Chong Pin Fee、Kawakami Saori、Maehara Kenji、Kaku Yoshitsugu、Kurokawa Mari、Morisada Naoya、Iijima Kazumoto、Kira Ryutaro
- Journal Title
  
  Seizure
  
  Volume: 86 Pages: 82-84
- DOI
  10.1016/j.seizure.2021.01.016
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19K10613, KAKENHI-PROJECT-18K08243
[Journal Article] Development of an Exon Skipping Therapy for X-linked Alport Syndrome With Truncating Variants in COL4A5.2020
- Author(s)
  Yamamura T, Horinouchi T, Adachi T, Terakawa M, Takaoka Y, Omachi K, Takasato M, Takaishi K, Shoji T, Onishi Y, Kanazawa Y, Koizumi M, Tomono Y, Sugano S, Shono A, Minamikawa S, Nagano C, Sakakibara N, Ishiko S, Aoto Y, Kamura M, Harita Y, Miura K, Kanda S, Morisada N, and 6 others.
- Journal Title
  
  Nat Commun .
  
  Volume: 11(1) Issue: 1 Pages: 2777-2777
- DOI
  10.1038/s41467-020-16605-x
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-19K09921, KAKENHI-PROJECT-18K07887, KAKENHI-PROJECT-19K08726, KAKENHI-PROJECT-19K12202, KAKENHI-PROJECT-20K08584, KAKENHI-PROJECT-19H03379, KAKENHI-PROJECT-18K07414, KAKENHI-PROJECT-18K08243
[Journal Article] Bardet-Biedl syndrome in two unrelated patients with identical compound heterozygous SCLT1 mutations2020
- Author(s)
  Morisada Naoya、Hamada Riku、Miura Kenichiro、Ye Ming Juan、Nozu Kandai、Hattori Motoshi、Iijima Kazumoto
- Journal Title
  
  CEN Case Reports
  
  Volume: 9 Issue: 3 Pages: 260-265
- DOI
  10.1007/s13730-020-00472-y
- NAID
  120006873081
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K07857, KAKENHI-PROJECT-18K08243
[Journal Article] Pathogenic evaluation of synonymous COL4A5 variants in X‐linked Alport syndrome using a minigene assay2020
- Author(s)
  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
- Journal Title
  
  Molecular Genetics & Genomic Medicine
  
  Volume: 8 Issue: 8
- DOI
  10.1002/mgg3.1342
- NAID
  120006879547
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18K07799, KAKENHI-PROJECT-19K08726, KAKENHI-PROJECT-18K08243
[Journal Article] Medullary Cystic Kidney Disease and Focal Segmental Glomerulosclerosis Caused by a Compound Heterozygous Mutation in TTC21B2020
- Author(s)
 Hibino Satoshi、Morisada Naoya、Takeda Asami、Tanaka Kazuki、Nozu Kandai、Yamakawa Satoshi、Iijima Kazumoto、Fujita Naoya
- Journal Title
 
 Intern. Med.
 
 Volume: 59 Issue: 14 Pages: 1735-1738
- DOI
 10.2169/internalmedicine.4266-19
- NAID
 130007873312
- ISSN
 0918-2918, 1349-7235
- Year and Date
 2020-07-15
- Language
 English
- Peer Reviewed
- Data Source
 KAKENHI-PROJECT-18K08243
[Journal Article] A case with somatic and germline mosaicism in COL4A5 detected by multiplex ligation-dependent probe amplification in X-linked Alport syndrome2020
- Author(s)
  Aoto Yuya、Kise Tomoo、Nakanishi Koichi、Nagano China、Horinouchi Tomoko、Yamamura Tomohiko、Ishiko Shinya、Sakakibara Nana、Shima Yuko、Morisada Naoya、Iijima Kazumoto、Nozu Kandai
- Journal Title
  
  CEN Case Reports
  
  Volume: 9 Issue: 4 Pages: 431-436
- DOI
  10.1007/s13730-020-00503-8
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18K07799, KAKENHI-PROJECT-18K08243
[Journal Article] Genotype-phenotype correlations influence the response to angiotensin-targeting drugs in Japanese patients with male X-linked Alport syndrome2020
- Author(s)
  Yamamura Tomohiko、Horinouchi Tomoko、Nagano China、Omori Takashi、Sakakibara Nana、Aoto Yuya、Ishiko Shinya、Nakanishi Koichi、Shima Yuko、Nagase Hiroaki、Takeda Hiroki、Rossanti Rini、Ye Ming Juan、Nozu Yoshimi、Ishimori Shingo、Ninchoji Takeshi、Kaito Hiroshi、Morisada Naoya、Iijima Kazumoto、Nozu Kandai
- Journal Title
  
  Kidney International
  
  Volume: 98 Issue: 6 Pages: 1605-1614
- DOI
  10.1016/j.kint.2020.06.038
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18K07799, KAKENHI-PROJECT-19K08726, KAKENHI-PROJECT-18K08243
[Journal Article] MPPH syndrome with aortic coarctation and macrosomia due to CCND2 mutations2020
- Author(s)
  Sameshima Tomohiro、Morisada Naoya、Egawa Tsuyoshi、Kugo Masaaki、Iijima Kazumoto
- Journal Title
  
  Pediatrics International
  
  Volume: 62 Issue: 1 Pages: 115-117
- DOI
  10.1111/ped.14068
- NAID
  120006940235
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K08243
[Journal Article] Poststreptococcal acute glomerulonephritis can be a risk factor for accelerating kidney dysfunction in Alport syndrome: a case experience2020
- Author(s)
  Araki Yoshinori、Kawaguchi Azusa、Sakakibara Nana、Nagaoka Yoshinobu、Yamamura Tomohiko、Horinouchi Tomoko、Nagano China、Morisada Naoya、Iijima Kazumoto、Nozu Kandai
- Journal Title
  
  CEN Case Reports
  
  Volume: 9 Issue: 4 Pages: 418-422
- DOI
  10.1007/s13730-020-00498-2
- NAID
  120006894023
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K08243
[Journal Article] A woman with a dual genetic diagnosis of autosomal dominant tubulointerstitial kidney disease and KBG syndrome2020
- Author(s)
  Tanaka Yu、Morisada Naoya、Suzuki Tomohiro、Ohashi Yoshitaka、Ye Ming Juan、Nozu Kandai、Tsuruta Satoru、Iijima Kazumoto
- Journal Title
  
  CEN Case Reports
  
  Volume: 10 Issue: 2 Pages: 184-188
- DOI
  10.1007/s13730-020-00543-0
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K08243
[Journal Article] Improvement of opsoclonus after congenital cataract surgery in an infant2020
- Author(s)
  Yamaguchi Hiroshi、Morisada Naoya、Maruyama Azusa、Kosaki Kenjiro、Nomura Koji
- Journal Title
  
  Pediatrics International
  
  Volume: 62 Issue: 1 Pages: 108-109
- DOI
  10.1111/ped.14039
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K08243
[Journal Article] A Novel Truncating PAX2 Mutation in a Boy With Renal Coloboma Syndrome With Focal Segmental Glomerulosclerosis Causing Rapid Progression to End-Stage Kidney Disease2020
- Author(s)
  Saida K, Kamei K, Morisada N, Ogura M, Ogata K, Matsuoka K, Nozu K, Iijima K, Ito S.
- Journal Title
  
  CEN Case Rep
  
  Volume: 9 Issue: 1 Pages: 19-23
- DOI
  10.1007/s13730-019-00419-y
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K08243, KAKENHI-PROJECT-18KK0244
[Journal Article] Expanding the phenotype of Bardet?Biedl syndrome: Newly diagnosed sibling cases2020
- Author(s)
  Aizawa Tomomi、Morisada Naoya、Nozu Kandai、Tandai Satoru、Tanaka Hiroshi
- Journal Title
  
  Pediatrics International
  
  Volume: 62 Issue: 1 Pages: 101-103
- DOI
  10.1111/ped.14066
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K08243
[Journal Article] Bardet-Biedl Syndrome Caused by Skipping of SCLT1 Complicated by Microvesicular Steatohepatitis2020
- Author(s)
 Horiuchi Kentaro、Kogiso Tomomi、Sagawa Takaomi、Ito Taito、Taniai Makiko、Miura Kenichiro、Hattori Motoshi、Morisada Naoya、Hashimoto Etsuko、Tokushige Katsutoshi
- Journal Title
 
 Intern. Med.
 
 Volume: 59 Issue: 21 Pages: 2719-2724
- DOI
 10.2169/internalmedicine.5045-20
- NAID
 130007934233
- ISSN
 0918-2918, 1349-7235
- Year and Date
 2020-11-01
- Language
 English
- Peer Reviewed
- Data Source
 KAKENHI-PROJECT-18K07857, KAKENHI-PROJECT-18K08243
[Journal Article] Molecular mechanisms determining severity in patients with Pierson syndrome2020
- Author(s)
  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、Nozu Kandai
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 65 Issue: 4 Pages: 355-362
- DOI
  10.1038/s10038-019-0715-0
- NAID
  120006811107
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-19K08726, KAKENHI-PROJECT-17K16087, KAKENHI-PROJECT-18K07799, KAKENHI-PROJECT-18K08243, KAKENHI-PROJECT-19K17297, KAKENHI-PROJECT-18KK0244
[Journal Article] Clinical and genetic variability of PAX2-related disorder in the Japanese population2020
- Author(s)
  Rossanti Rini、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
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 65 Issue: 6 Pages: 541-549
- DOI
  10.1038/s10038-020-0741-y
- NAID
  120006841471
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K08243
[Journal Article] Comparison of clinical and genetic characteristics between Dent disease 1 and Dent disease 22020
- Author(s)
  Sakakibara Nana、Nagano China、Ishiko Shinya、Horinouchi Tomoko、Yamamura Tomohiko、Minamikawa Shogo、Shima Yuko、Nakanishi Koichi、Ishimori Shingo、Morisada Naoya、Iijima Kazumoto、Nozu Kandai
- Journal Title
  
  Pediatric Nephrology
  
  Volume: 35 Issue: 12 Pages: 2319-2326
- DOI
  10.1007/s00467-020-04701-5
- NAID
  120007052636
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K07799, KAKENHI-PROJECT-19K08726, KAKENHI-PROJECT-18K08243
[Journal Article] 指節骨癒合症の1家系にみられたPfeiffer症候群の1例2019
- Author(s)
  倉信裕樹, 鈴木将浩, 河場康郎, 岡田隆好, 阿久津宣行, 小山淳二, 森貞直哉, 飯島一誠
- Journal Title
  
  鳥取医学雑誌
  
  Volume: 47 Pages: 23-26
- Data Source
  KAKENHI-PROJECT-18K08243
[Journal Article] Male CDPX2 patient with EBP mosaicism and asymmetrically lateralized skin lesions with strict midline demarcation2019
- Author(s)
  Horinouchi Tomoko、Morisada Naoya、Uemura Hiroyasu、Kobayashi Daisuke、Nozu Kandai、Okamoto Nobuhiko、Iijima Kazumoto
- Journal Title
  
  American Journal of Medical Genetics Part A
  
  Volume: 179 Issue: 7 Pages: 1315-1318
- DOI
  10.1002/ajmg.a.61159
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K08243, KAKENHI-PROJECT-18K15712
[Journal Article] A girl with CLOVES syndrome with a recurrent PIK3CA somatic mutation and pancreatic steatosis2019
- Author(s)
  Hanafusa Hiroaki、Morisada Naoya、Nomura Tadashi、Kobayashi Daisuke、Akasaka Yoshinobu、Ye Ming Juan、Nozu Kandai、Nishimura Noriyuki、Iijima Kazumoto、Nakao Hideto
- Journal Title
  
  Human Genome Variation
  
  Volume: 6 Issue: 1 Pages: 31-31
- DOI
  10.1038/s41439-019-0063-9
- NAID
  120006653144
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18K08243, KAKENHI-PROJECT-18K09481
[Journal Article] IFT172 as the 19th gene causative of oral‐facial‐digital syndrome2019
- Author(s)
  Yamada Mamiko、Uehara Tomoko、Suzuki Hisato、Takenouchi Toshiki、Fukushima Hiroyuki、Morisada Naoya、Tominaga Kenta、Onoda Motohiro、Kosaki Kenjiro
- Journal Title
  
  American Journal of Medical Genetics Part A
  
  Volume: 179 Issue: 12 Pages: 2510-2513
- DOI
  10.1002/ajmg.a.61373
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18K08243, KAKENHI-PROJECT-19K17342
[Journal Article] Determination of the pathogenicity of known COL4A5 intronic variants by in vitro splicing assay.2019
- Author(s)
  Horinouchi T, Nozu K, Yamamura T, Minamikawa S, Nagano C, Sakakibara N, Nakanishi K, Shima Y, Morisada N, Ishiko S, Aoto Y, Nagase H, Takeda H, Rossanti R, Kaito H, Matsuo M, Iijima K.
- Journal Title
  
  Sci Rep.
  
  Volume: 9(1) Issue: 1 Pages: 12696-12696
- DOI
  10.1038/s41598-019-48990-9
- NAID
  120006825910
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18K07799, KAKENHI-PROJECT-18K08243, KAKENHI-PROJECT-19K08726, KAKENHI-PROJECT-17H04189, KAKENHI-PROJECT-18K15712
[Journal Article] こども病院における遺伝子診療部門の役割2019
- Author(s)
  森貞直哉
- Journal Title
  
  兵庫県小児科医会報
  
  Volume: 72 Pages: 2-6
- Data Source
  KAKENHI-PROJECT-18K08243
[Journal Article] 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 Institution2019
- Author(s)
  Ishiwa S, Sato M, Morisada N, Nishi K, Kanamori T, Okutsu M, Ogura M, Sako M, Kosuga M, Kamei K, Ito S, Nozu K, Iijima K, Ishikura K.
- Journal Title
  
  Pediatric Nephrology
  
  Volume: 34 Issue: 8 Pages: 1457-1464
- DOI
  10.1007/s00467-019-04230-w
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K08243
[Journal Article] Clinical spectrum of male patients with OFD1 mutations.2019
- Author(s)
  Sakakibara N, Morisada N, Nozu K, Nagatani K, Ohta T, Shimizu J, Wada T, Shima Y, Yamamura T, Minamikawa S, Fujimura J, Horinouchi T, Nagano C, Shono A, Ye MJ, Nozu Y, Nakanishi K, Iijima K.
- Journal Title
  
  J Hum Genet.
  
  Volume: 64 Issue: 1 Pages: 3-9
- DOI
  10.1038/s10038-018-0532-x
- NAID
  120006888530
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K07799, KAKENHI-PROJECT-18K08243, KAKENHI-PROJECT-15K09694, KAKENHI-PROJECT-16K10066
[Journal Article] Clinical Characteristics of HNF1B-related Disorders in a Japanese Population2019
- Author(s)
  Nagano C, Morisada N, Nozu K, Kamei K, Tanaka R, Kanda S, Shiona S, Araki Y, Ohara S, Matsumura C, Kasahara K, Mori Y, Seo A, Miura K, Washiyama M, Sugimoto K, Harada R, Tazoe S, Kourakata H, Enseki M, Aotani D, Yamada T, Sakakibara N, Yamamura T, Minamikawa S, Ishikura K, Ito S, Hattori M, Iijima K
- Journal Title
  
  Clin Exp Nephrol.
  
  Volume: 23 Issue: 9 Pages: 1119-1129
- DOI
  10.1007/s10157-019-01747-0
- NAID
  120006873080
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K08243, KAKENHI-PROJECT-17K09689
[Journal Article] An Orofaciodigital Syndrome 1 Patient and Her Mother Carry the Same OFD1 Mutation but Have Different X Chromosome Inactivation Patterns2019
- Author(s)
 Iijima Takashi、Hayami Noriko、Takaichi Kenmei、Morisada Naoya、Nozu Kandai、Iijima Kazumoto、Sawa Naoki、Hoshino Junichi、Ubara Yoshifumi
- Journal Title
 
 Intern. Med.
 
 Volume: 58 Issue: 20 Pages: 2989-2992
- DOI
 10.2169/internalmedicine.2571-18
- NAID
 130007728761
- ISSN
 0918-2918, 1349-7235
- Year and Date
 2019-10-15
- Language
 English
- Peer Reviewed
- Data Source
 KAKENHI-PROJECT-18K08243
[Journal Article] Comparison between conventional and comprehensive sequencing approaches for genetic diagnosis of Alport syndrome.2019
- Author(s)
  Yamamura T, Nozu K, Minamikawa S, Horinouchi T, Sakakibara N, Nagano C, Aoto Y, Ishiko S, Nakanishi K, Shima Y, Nagase H, Rossanti R, Ye MJ, Nozu Y, Ishimori S, Morisada N, Kaito H, Iijima K.
- Journal Title
  
  Mol Genet Genomic Med.
  
  Volume: 7(9) Issue: 9
- DOI
  10.1002/mgg3.883
- NAID
  120006733124
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18K07799, KAKENHI-PROJECT-18K08243, KAKENHI-PROJECT-19K08726, KAKENHI-PROJECT-17H04189
[Journal Article] De novo NSF mutations cause early infantile epileptic encephalopathy2019
- Author(s)
  Suzuki Hisato、Yoshida Takeshi、Morisada Naoya、Uehara Tomoko、Kosaki Kenjiro、Sato Katsunori、Matsubara Kohei、Takano‐Shimizu Toshiyuki、Takenouchi Toshiki
- Journal Title
  
  Annals of Clinical and Translational Neurology
  
  Volume: 6 Issue: 11 Pages: 2334-2339
- DOI
  10.1002/acn3.50917
- NAID
  120006940294
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K08243, KAKENHI-PROJECT-19K06780
[Journal Article] ここが知りたい!グレーゾーンの赤ちゃん(第3回)　気掛かりな症状がある赤ちゃん　遺伝科の立場から2019
- Author(s)
  森貞直哉
- Journal Title
  
  with NEO
  
  Volume: 32 Pages: 468-469
- Data Source
  KAKENHI-PROJECT-18K08243
[Journal Article] Inherited salt‐losing tubulopathy: an old condition but a new category of tubulopathy2019
- Author(s)
  Nozu Kandai、Yamamura Tomohiko、Horinouchi Tomoko、Nagano China、Sakakibara Nana、Ishikura Kenji、Hamada Riku、Morisada Naoya、Iijima Kazumoto
- Journal Title
  
  Pediatrics International
  
  Volume: - Issue: 4 Pages: 428-437
- DOI
  10.1111/ped.14089
- NAID
  120006844963
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18K08243, KAKENHI-PROJECT-19K08726
[Journal Article] Renal-hepatic-pancreatic dysplasia-1 diagnosed on comprehensive gene analysis2019
- Author(s)
  Inaguma Yosuke、Kaito Hiroshi、Morisada Naoya、Iijima Kazumoto、Tanaka Ryojiro
- Journal Title
  
  Pediatrics International
  
  Volume: 61 Issue: 2 Pages: 210-212
- DOI
  10.1111/ped.13758
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K08243
[Journal Article] 【嚢胞性腎疾患】ネフロン癆の最近の知見2019
- Author(s)
  森貞直哉, 野津寛大, 飯島一誠
- Journal Title
  
  日本腎臓学会誌
  
  Volume: 61 Pages: 1102-1107
- Data Source
  KAKENHI-PROJECT-18K08243
[Journal Article] 【指定難病ペディア2019】個別の指定難病-聴覚・耳鼻科系　鰓耳腎症候群[指定難病190]2019
- Author(s)
  森貞直哉, 飯島一誠
- Journal Title
  
  日本医師会雑誌
  
  Volume: 148
- Data Source
  KAKENHI-PROJECT-18K08243
[Journal Article] 【腎生検から病因と病態を読む】病理診断で遺伝子検査を依頼されたら2019
- Author(s)
  榊原菜々, 野津寛大, 森貞直哉, 飯島一誠
- Journal Title
  
  腎と透析
  
  Volume: 87 Pages: 660-663
- Data Source
  KAKENHI-PROJECT-18K08243
[Journal Article] IGF2 Mutations2019
- Author(s)
  Masunaga Yohei、Inoue Takanobu、Yamoto Kaori、Fujisawa Yasuko、Sato Yasuhiro、Kawashima-Sonoyama Yuki、Morisada Naoya、Iijima Kazumoto、Ohata Yasuhisa、Namba Noriyuki、Suzumura Hiroshi、Kuribayashi Ryota、Yamaguchi Yu、Yoshihashi Hiroshi、Fukami Maki、Saitsu Hirotomo、Kagami Masayo、Ogata Tsutomu
- Journal Title
  
  The Journal of Clinical Endocrinology & Metabolism
  
  Volume: 105 Issue: 1 Pages: 116-125
- DOI
  10.1210/clinem/dgz034
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18K08243, KAKENHI-PLANNED-17H06428, KAKENHI-PROJECT-17H04204, KAKENHI-PROJECT-17K10078, KAKENHI-PROJECT-18K15708
[Journal Article] Phenotypic differences and similarities of monozygotic twins with maturity-onset diabetes of the young type?52019
- Author(s)
  Ohara Yasuko、Okada Yuko、Yamada Tomoko、Sugawara Kenji、Kanatani Masayuki、Fukuoka Hidenori、Hirota Yushi、Maeda Takaki、Morisada Naoya、Iijima Kazumoto、Ogawa Wataru
- Journal Title
  
  Journal of Diabetes Investigation
  
  Volume: - Issue: 4 Pages: 1112-1115
- DOI
  10.1111/jdi.13004
- NAID
  120006709586
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18K08243, KAKENHI-PROJECT-16K19537
[Journal Article] 新規PAX2遺伝子変異が同定されたnon-syndromic CAKUTの女児例2019
- Author(s)
  櫻谷浩志, 藤永周一郎, 梅田千里, 富井祐治, 渡邊佳孝, 野津寛大, 森貞直哉, 飯島一誠
- Journal Title
  
  日本小児腎不全学会雑誌
  
  Volume: 39 Pages: 108-110
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K08243
[Journal Article] 男性腎不全の家族歴からネフロン癆関連シリオパチーの診断に至った3歳男児例2019
- Author(s)
  和田卓三, 島友子, 浜武継, 向山弘展, 鈴木啓之, 森貞直哉, 野津寛大, 飯島一誠, 中西浩一
- Journal Title
  
  発達腎研究会誌
  
  Volume: 27 Pages: 9-11
- Data Source
  KAKENHI-PROJECT-18K08243
[Journal Article] PAX2関連腎疾患の遺伝子型と臨床像2019
- Author(s)
  森貞直哉, Rossanti Rini, 貝藤裕史, 野津寛大, 田中亮二郎, 飯島一誠
- Journal Title
  
  発達腎研究会誌
  
  Volume: 27 Pages: 31-34
- Data Source
  KAKENHI-PROJECT-18K08243
[Journal Article] Rapidly Progressive Nephronophthisis in a 2-Year-Old Boy with a Homozygous SDCCAG8 Mutation2019
- Author(s)
 Watanabe Yoshitaka、Fujinaga Shuichiro、Sakuraya Koji、Morisada Naoya、Nozu Kandai、Iijima Kazumoto
- Journal Title
 
 Tohoku J. Exp. Med.
 
 Volume: 249 Issue: 1 Pages: 29-32
- DOI
 10.1620/tjem.249.29
- NAID
 130007708876
- ISSN
 0040-8727, 1349-3329
- Language
 English
- Peer Reviewed / Open Access
- Data Source
 KAKENHI-PROJECT-18K08243
[Journal Article] 腎移植前精査中にHNF1B異常を同定した先天性腎尿路異常の1例2019
- Author(s)
  久富隆太郎, 三浦健一郎, 神田祥一郎, 谷口洋平, 長澤武, 伴英樹, 白井陽子, 金子直人, 薮内智朗, 高木陽子, 石塚喜世伸, 秋岡祐子, 原太一, 森貞直哉, 飯島一誠, 服部元史
- Journal Title
  
  日本臨床腎移植学会雑誌
  
  Volume: 7 Pages: 96-98
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K08243
[Journal Article] Molecular assay for an intronic variant in NUP93 that causes steroid resistant nephrotic syndrome2019
- Author(s)
  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
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 64 Issue: 7 Pages: 673-679
- DOI
  10.1038/s10038-019-0606-4
- NAID
  120006653286
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18K08243, KAKENHI-PROJECT-19K09921, KAKENHI-PROJECT-18KK0244, KAKENHI-PROJECT-18K15712, KAKENHI-PROJECT-18H02823
[Journal Article] Novel BICD2 mutation in a Japanese family with autosomal dominant lower extremity-predominant spinal muscular atrophy-22018
- Author(s)
  Yoshioka M, Morisada N, Toyoshima D, Yoshimura H, Nishio H, Iijima K, Takeshima Y, Uehara T, Kosaki K.
- Journal Title
  
  Brain & Devwlopment
  
  Volume: 40 Issue: 4 Pages: 343-347
- DOI
  10.1016/j.braindev.2017.12.001
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10077, KAKENHI-PROJECT-18K08243
[Journal Article] 腎合併症を持つ発達障害・重症心身障害児と移行期医療2018
- Author(s)
  森貞直哉、飯島一誠
- Journal Title
  
  日本腎臓学会誌
  
  Volume: 60 Pages: 992-995
- Data Source
  KAKENHI-PROJECT-18K08243
[Journal Article] Congenital chloride diarrhea needs to be distinguished from Bartter and Gitelman syndrome2018
- Author(s)
  Matsunoshita Natsuki、Nozu Kandai、Yoshikane Masahide、Kawaguchi Azusa、Fujita Naoya、Morisada Naoya、Ishimori Shingo、Yamamura Tomohiko、Minamikawa Shogo、Horinouchi Tomoko、Nakanishi Keita、Fujimura Junya、Ninchoji Takeshi、Morioka Ichiro、Nagase Hiroaki、Taniguchi-Ikeda Mariko、Kaito Hiroshi、Iijima Kazumoto
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 63 Issue: 8 Pages: 887-892
- DOI
  10.1038/s10038-018-0470-7
- NAID
  120006888531
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K08243
[Journal Article] Detection of copy number variations by pair analysis using next-generation sequencing data in inherited kidney diseases2018
- Author(s)
  Nagano C, Nozu K, Morisada N, Yazawa M, Ichikawa D, Numasawa K, Kourakata H, Matsumura C, Tazoe S, Tanaka R, Yamamura T, Minamikawa S, Horinouchi T, Nakanishi K, Fujimura J, Sakakibara N, Nozu Y, Ye MJ, Kaito H, Iijima K
- Journal Title
  
  Clinical and Experimental Nephrology
  
  Volume: 印刷中 Issue: 4 Pages: 881-888
- DOI
  10.1007/s10157-018-1534-x
- NAID
  120006624236
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-26293203, KAKENHI-PROJECT-17H04189, KAKENHI-PROJECT-15K09261, KAKENHI-PROJECT-15K09691, KAKENHI-PROJECT-16K19642, KAKENHI-PROJECT-18K08243
[Journal Article] Clinically diverse phenotypes and genotypes of patients with branchio-oto-renal syndrome2018
- Author(s)
  Unzaki Ai、Morisada Naoya、Nozu Kandai、Ye Ming Juan et al
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 63 Issue: 5 Pages: 647-656
- DOI
  10.1038/s10038-018-0429-8
- NAID
  120006647352
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-15K09261, KAKENHI-PROJECT-17K09689, KAKENHI-PROJECT-18K08243
[Journal Article] 指定難病最前線(Volume 58)　鰓耳腎(BOR)症候群の特徴と診療の実際2018
- Author(s)
  森貞直哉, 飯島一誠
- Journal Title
  
  新薬と臨牀
  
  Volume: 67 Pages: 461-464
- Data Source
  KAKENHI-PROJECT-18K08243
[Journal Article] Clinical and Genetic Characteristics in Patients With Gitelman Syndrome.2018
- Author(s)
  Fujimura J, Nozu K, Yamamura T, Minamikawa S, Nakanishi K, Horinouchi T, Nagano C, Sakakibara N, Nakanishi K, Shima Y, Miyako K, Nozu Y, Morisada N, Nagase H, Ninchoji T, Kaito H, Iijima K.
- Journal Title
  
  Kidney Int Rep.
  
  Volume: ４ Issue: 1 Pages: 119-125
- DOI
  10.1016/j.ekir.2018.09.015
- NAID
  120006847258
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18K07799, KAKENHI-PROJECT-18K08243, KAKENHI-PROJECT-15K09694, KAKENHI-PROJECT-19K08726
[Journal Article] Branchio-oto-renal症候群に脳海綿状血管腫を合併し、EYA1の新規変異を認めた1例2018
- Author(s)
  岩城拓磨, 若林誉幸, 井上杏海, 入江加奈子, 福家典子, 近藤健夫, 小西行彦, 岡田仁, 日下隆, 森貞直哉, 飯島一誠
- Journal Title
  
  日本小児腎臓病学会雑誌
  
  Volume: 31 Pages: 44-50
- NAID
  130006707749
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K08243
[Journal Article] Detection of Splicing Abnormalities and Genotype-Phenotype Correlation in X-linked Alport Syndrome.2018
- Author(s)
  Horinouchi T, Nozu K, Yamamura T, Minamikawa S, Omori T, Nakanishi K, Fujimura J, Ashida A, Kitamura M, Kawano M, Shimabukuro W, Kitabayashi C, Imafuku A, Tamagaki K, Kamei K, Okamoto K, Fujinaga S, Oka M, Igarashi T, Miyazono A, Sawanobori E, Fujimaru R, Nakanishi K, Shima Y et al
- Journal Title
  
  J Am Soc Nephrol.
  
  Volume: 29 Issue: 8 Pages: 2244-2254
- DOI
  10.1681/asn.2018030228
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18K07799, KAKENHI-PROJECT-18K08243, KAKENHI-PROJECT-17H04189, KAKENHI-PROJECT-15K09694
[Journal Article] 小児慢性腎臓病(CKD)の原因遺伝子解析と遺伝カウンセリング2018
- Author(s)
  森貞直哉、野津寛大、飯島一誠
- Journal Title
  
  日本遺伝カウンセリング学会誌
  
  Volume: 39 Pages: 31-36
- Data Source
  KAKENHI-PROJECT-18K08243
[Journal Article] Development of ultra-deep targeted RNA sequencing for analyzing X-chromosome inactivation in female Dent disease2018
- Author(s)
  Minamikawa S, Nozu K, Nozu Y, Yamamura T, Taniguchi-Ikeda M, Nakanishi K, Fujimura J, Horinouchi T, Shima Y, Nakanishi K, Hattori M, Kanda K, Tanaka R, Morisada N, Nagano C, Sakakibara N, Nagase H, Morioka I, Kaito H, Iijima K.
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 63 Issue: 5 Pages: 589-595
- DOI
  10.1038/s10038-018-0415-1
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-15K09694, KAKENHI-PROJECT-15K09261, KAKENHI-PROJECT-15K09691, KAKENHI-PROJECT-18K07799, KAKENHI-PROJECT-18K08243
[Journal Article] Cryptic exon activation in SLC12A3 in Gitelman syndrome.2017
- Author(s)
  Nozu K, Nozu Y, Nakanishi K, Konomoto T, Horinouchi T, Shono A, Morisada N, Minamikawa S, Yamamura T, Fujimura J, Nakanishi K, Ninchoji T, Kaito H, Morioka I, Taniguchi-Ikeda M, Vorechovsky I, Iijima K
- Journal Title
  
  J Hum Genet.
  
  Volume: 62 Issue: 2 Pages: 335-337
- DOI
  10.1038/jhg.2016.129
- NAID
  40021065185
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26293203, KAKENHI-PROJECT-26461632, KAKENHI-PROJECT-15K09261, KAKENHI-PROJECT-15K09691, KAKENHI-PROJECT-16K10066
[Journal Article] Pseudo-Bartter syndrome in an infant with renal hypo/dysplasia: PAX2 mutation identified by next-generation sequencing led to the diagnosis, renal coloboma syndrome2017
- Author(s)
 波多江健、慶田裕美、檜山麻衣子、黒木理恵、黒川麻里、森貞直哉、野津寛大、飯島一誠
- Journal Title
 
 Japanese journal of pediatric nephrology
 
 Volume: 30 Issue: 1 Pages: 54-59
- DOI
 10.3165/jjpn.cr.2016.0105
- NAID
 130006789708
- ISSN
 0915-2245, 1881-3933
- Language
 Japanese
- Data Source
 KAKENHI-PROJECT-15K09261
[Journal Article] Diversity of renal phenotypes in patients with WDR19 mutations: Two case reports2017
- Author(s)
  Yoshikawa Takahisa、Kamei Koichi、Nagata Hiroko、Saida Ken、Sato Mai、Ogura Masao、Ito Shuichi、Miyazaki Osamu、Urushihara Maki、Kondo Shuji、Sugawara Noriko、Ishizuka Kiyonobu、Hamasaki Yuko、Shishido Seiichiro、Morisada Naoya、Iijima Kazumoto、Nagata Michio、Yoshioka Takako、Ogata Kentaro、Ishikura Kenji
- Journal Title
  
  Nephrology
  
  Volume: 22 Issue: 7 Pages: 566-571
- DOI
  10.1111/nep.12996
- Data Source
  KAKENHI-PROJECT-15K09261
[Journal Article] 次世代シークエンサーを用いた先天性腎尿路奇形(CAKUT)の原因遺伝子解析2016
- Author(s)
  森貞直哉, 庄野朱美, 野津寛大, 叶明娟, 神田祥一郎, 井藤奈央子, 亀井宏一, 伊藤秀一, 山本勝輔, 里村憲一, 田中亮二郎, 西尾久英, 飯島一誠
- Journal Title
  
  発達腎研究会誌
  
  Volume: 24 Pages: 13-15
- Data Source
  KAKENHI-PROJECT-15K09261
[Journal Article] Pathogenesis of hypokalemia in autosomal dominant hypocalcemia type 1.2016
- Author(s)
  Kamiyoshi N, Nozu K, Urahama Y, Matsunoshita N, Yamamura T, Minamikawa S, Ninchoji T, Morisada N, Nakanishi K, Kaito H, Iijima K.
- Journal Title
  
  Clin Exp Nephrol.
  
  Volume: 20 Issue: 2 Pages: 253-257
- DOI
  10.1007/s10157-015-1160-9
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-15K09691, KAKENHI-PROJECT-26461618, KAKENHI-PROJECT-26293203, KAKENHI-PROJECT-26860800, KAKENHI-PROJECT-15K09261
[Journal Article] Telomeric Region of the Spinal Muscular Atrophy Locus Is Susceptible to Structural Variations.2016
- Author(s)
  Noguchi Y, Onishi A, Nakamachi Y, Hayashi N, Harahap NI, Rochmah MA, Shima A, Yanagisawa S, Morisada N, Nakagawa T, Iijima K, Kasagi S, Saegusa J, Kawano S, Shinohara M, Tairaku S, Saito T, Kubo Y, Saito K, Nishio H.
- Journal Title
  
  Pediatr Neurol
  
  Volume: 58 Pages: 83-89
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-15K09261
[Journal Article] Rare renal ciliopathies in non-consanguineous families that were identified by targeted resequencing.2016
- Author(s)
  Yamamura T, Morisada N, Nozu K, Minamikawa S, Ishimori S, Toyoshima D, Ninchoji T, Yasui M, Taniguchi-Ikeda M, Morioka I, Nakanishi K, Nishio H, Iijima K.
- Journal Title
  
  Clin Exp Nephrol.
  
  Volume: 20 Issue: 1 Pages: 136-142
- DOI
  10.1007/s10157-016-1256-x
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-26293203, KAKENHI-PROJECT-26461632, KAKENHI-PROJECT-15K09261
[Journal Article] New-onset diabetes after renal transplantation in a patient with a novel HNF1B mutation2016
- Author(s)
  Kanda S, Morisada N, Kaneko N, Yabuuchi T, Nawashiro Y, Tada N, Nishiyama K, Miyai T, Sugawara N, Ishizuka K, Chikamoto H, Akioka Y, Iijima K, Hattori M.
- Journal Title
  
  Pediatric Transplantation
  
  Volume: 20 Issue: 3 Pages: 467-471
- DOI
  10.1111/petr.12690
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-15K09261, KAKENHI-PROJECT-15K21385, KAKENHI-PROJECT-26293203
[Journal Article] Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome.2016
- Author(s)
  Kamiyoshi N, Nozu K, Fu XJ, Morisada N, Nozu Y, Ye MJ, Imafuku A, Miura K, Yamamura T, Minamikawa S, Shono A, Ninchoji T, Morioka I, Nakanishi K, Yoshikawa N, Kaito H, Iijima K
- Journal Title
  
  Clin J Am Soc Nephrol.
  
  Volume: 11 Issue: 8 Pages: 1441-1449
- DOI
  10.2215/cjn.01000116
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-26293203, KAKENHI-PROJECT-15K09261, KAKENHI-PROJECT-15K09682, KAKENHI-PROJECT-15K09695, KAKENHI-PROJECT-16K10066
[Journal Article] Diverse Renal Phenotypes Observed in a Single Family with a Genetic Mutation in Paired Box Protein 2.2016
- Author(s)
  Iwafuchi Y, Morioka T, Morita T, Yanagihara T, Oyama Y, Morisada N, Iijima K, Narita I.
- Journal Title
  
  Case Rep Nephrol Dial.
  
  Volume: 58 Issue: 1 Pages: 83-89
- DOI
  10.1159/000445679
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-15K09261
[Journal Article] Alternative splicing of a cryptic exon embedded in intron 6 of SMN1 and SMN2.2016
- Author(s)
  Yoshimoto S, Harahap NI, Hamamura Y, Ar Rochmah M, Shima A, Morisada N, Shinohara M, Saito T, Saito K, Lai PS, Matsuo M, Awano H, Morioka I, Iijima K, Nishio H.
- Journal Title
  
  Hum Genome Var.
  
  Volume: 3 Issue: 1 Pages: 16040-16040
- DOI
  10.1038/hgv.2016.40
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-15K09261
[Journal Article] Female X-linked Alport syndrome with somatic mosaicism2016
- Author(s)
  Yokota K, Nozu K, Minamikawa S, Yamamura T, Nakanishi K, Kaneda H, Hamada R, Nozu Y, Shono A, Ninchoji T, Morisada N, Ishimori S, Fujimura J, Horinouchi T, Kaito H, Nakanishi K, Morioka I, Taniguchi-Ikeda M, Iijima K.
- Journal Title
  
  Clin Exp Nephrol.
  
  Volume: 印刷中 Issue: 5 Pages: 877-883
- DOI
  10.1007/s10157-016-1352-y
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-15K09261, KAKENHI-PROJECT-16K10066, KAKENHI-PROJECT-26293203, KAKENHI-PROJECT-17H04189, KAKENHI-PROJECT-16K19642
[Journal Article] A 12p13 GRIN2B deletion is associated with developmental delay and macrocephaly.2016
- Author(s)
  Morisada N, Ioroi T, Taniguchi-Ikeda M, Juan Ye M, Okamoto N, Yamamoto T, Iijima K.
- Journal Title
  
  Hum Genome Var.
  
  Volume: 3 Issue: 1 Pages: 16029-16029
- DOI
  10.1038/hgv.2016.29
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-15K09261
[Journal Article] Daughter and mother with orofaciodigital syndrome type 1 and glomerulocystic kidney disease.2016
- Author(s)
  Iijima T, Hoshino J, Mise K, Sumida K, Suwabe T, Hayami N, Ueno T, Takaichi K, Fujii T, Ohashi K, Morisada N, Iijima K, Ubara Y.
- Journal Title
  
  Hum Pathol.
  
  Volume: 55 Pages: 24-29
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-15K09261
[Journal Article] A Novel UMOD Gene Mutation Associated with Uromodulin-associated Kidney Disease in a Young Woman with Moderate Kidney Dysfunction2015
- Author(s)
 Kuma A, Tamura M, Ishimatsu N, Miyamoto T, Serino R, Ishimori S, Morisada N, IijimaK, Takeuchi M, Abe H, Otsuji Y:
- Journal Title
 
 Intern. Med.
 
 Volume: 54 Issue: 6 Pages: 631-635
- DOI
 10.2169/internalmedicine.54.3151
- NAID
 130004903078
- ISSN
 0918-2918, 1349-7235
- Language
 English
- Peer Reviewed / Open Access
- Data Source
 KAKENHI-PROJECT-25461081, KAKENHI-PROJECT-15K09261
[Journal Article] 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.2015
- Author(s)
  Fu XJ, Nozu K, Eguchi A, Nozu Y, Morisada N, Shono A, Taniguchi-Ikeda M, Shima Y, Nakanishi K, Vorechovsky I, Iijima K
- Journal Title
  
  Clin Exp Nephrol.
  
  Volume: 20 Issue: 5 Pages: 699-702
- DOI
  10.1007/s10157-015-1197-9
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-26293203, KAKENHI-PROJECT-15K09261
[Journal Article] ヒトCAKUTの原因遺伝子解析2015
- Author(s)
  森貞直哉, 野津寛大, 亀井宏一, 伊藤秀一, 田中亮二郎, 飯島一誠
- Journal Title
  
  発達腎研究会誌
  
  Volume: 23 Pages: 19-22
- Data Source
  KAKENHI-PROJECT-15K09261
[Journal Article] Branchio-oto-renal syndrome caused by partial EYA1 deletion due to LINE-1 insertion2010
- Author(s)
  Morisada N, Rendtorff ND, Nozu K, Morishita T, Miyakawa T, Matsumoto T, Hisano S, Iijima K, Tranebjaerg L, Shirahata A, Matsuo M, Kusuhara K
- Journal Title
  
  Pediatr Nephrol
  
  Volume: 25 Pages: 1343-1348
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390240
[Journal Article] Branchio-oto-renal syndrome caused by partial EYA1 deletion due to LINE-1 insertion2010
- Author(s)
  Morisada N, Rendtorff ND, Nozu K, Morishita T, Miyakawa T, Matsumoto T, Hisano S, Iijima K, Tranebjaerg L, Shirahata A, Matsuo M, Kusuhara K.
- Journal Title
  
  Pediatr Nephrol
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20390240
[Journal Article] Branchio-oto-renal syndrome caused by partial EYA1 deletion due to LINE-1 insertion.2010
- Author(s)
  Morisada N, Rendtorff ND, Nozu K, Morishita T, Miyakawa T, Matsumoto T, Hisano S, Iijima K, Tranebjarg L, Shirahata A, Matsuo M, Kusuhara K.
- Journal Title
  
  Pediatr Nephrol 25(7)
  
  Pages: 1343-1348
- Data Source
  KAKENHI-PROJECT-20390240
[Presentation] ADPKDの診断基準を満たしたが遺伝子検査でADTKDの確定診断に至った一例2023
- Author(s)
  服部晃久, 臼井俊明, 中島健太郎, 原田拓也, 秋山知希, 角田亮也, 岡田絵里, 甲斐平康, 間瀬かおり, 森戸直記, 斎藤知栄, 臼井丈一, 森貞直哉, 野津寛大
- Organizer
  第53回日本腎臓学会東部学術大会
- Data Source
  KAKENHI-PROJECT-22K08351
[Presentation] 当科で診断したMAFB異常5例と腎症に関する考察2023
- Author(s)
  田中悠, 平田優, 木越隆晶, 池田洋一郎, 榊原菜々, 市川裕太, 上田知佳, 北角英晶, 近藤淳, 堀之内智子, 南裕佳, 平本龍吾, 稲垣徹史, 森貞直哉, 野津寛大
- Organizer
  第58回日本小児腎臓病学会学術集会
- Data Source
  KAKENHI-PROJECT-22K08351
[Presentation] 神戸大学でのCAKUT・嚢胞性腎疾患遺伝子解析の総括2023
- Author(s)
  森貞直哉, 叶明娟, 野津寛大, 飯島一誠
- Organizer
  第58回日本小児腎臓病学会学術集会
- Data Source
  KAKENHI-PROJECT-22K08351
[Presentation] 胎児期から腎腫大を認めた常染色体優性多発性嚢胞腎の女児2023
- Author(s)
  郷田聡, 大田敏之, 市場啓嗣, 藤原信, 藤村清香, 福原里恵, 森貞直哉, 野津寛大
- Organizer
  第58回日本小児腎臓病学会学術集会
- Data Source
  KAKENHI-PROJECT-22K08351
[Presentation] 6歳で保存期腎不全のINVS遺伝子変異による乳児ネフロン癆の一例2023
- Author(s)
  山崎陽子, 小林靖子, 田端洋太, 岩脇史郎, 武井麻里子, 池内由果, 森貞直哉, 野津寛大, 滝沢琢己
- Organizer
  第58回日本小児腎臓病学会学術集会
- Data Source
  KAKENHI-PROJECT-22K08351
[Presentation] In vitro splicing assayにより病原性を確定したARPKDの1例2023
- Author(s)
  野崎晴花, 榊原菜々, 田中悠, 市川裕太, 北角英昌, 上田知佳, 近藤淳, 堀之内智子, 猪野木雄太,亀井宏一, 森貞直哉, 野津寛大
- Organizer
  第58回日本小児腎臓病学会学術集会
- Data Source
  KAKENHI-PROJECT-22K08351
[Presentation] 遺伝性腎疾患の診断と遺伝カウンセリング2023
- Author(s)
  森貞直哉
- Organizer
  第58回日本小児腎臓病学会学術集会
- Invited
- Data Source
  KAKENHI-PROJECT-22K08351
[Presentation] 学校検診での尿糖陽性を契機にMODY5の診断に至った一例2023
- Author(s)
  位田敬明, 青谷大介, 森貞直哉, 加藤春佳, 浜田けい子, 伊藤隆彦, 竹田勝志, 服部麗, 小山博之, 野津寛大, 田中智洋
- Organizer
  第96回日本内分泌学会学術総会
- Data Source
  KAKENHI-PROJECT-22K08351
[Presentation] 原因不明の腎機能障害からADTKD-RENと診断した一例2023
- Author(s)
  山田祐子, 木下亮，藤森大輔, 横山浩己, 河場康郎, 森貞直哉, 野津寛大, 難波範行
- Organizer
  第58回日本小児腎臓病学会学術集会
- Data Source
  KAKENHI-PROJECT-22K08351
[Presentation] 小児重症ADPKDに対するトルバプタン治療2023
- Author(s)
  横山浩己, 木下亮, 室賀千佳, 藤森大輔, 山田祐子, 岡西徹, 森貞直哉, 野津寛大, 難波範行
- Organizer
  第58回日本小児腎臓病学会学術集会
- Data Source
  KAKENHI-PROJECT-22K08351
[Presentation] 臨床遺伝科の役割・小児泌尿器科への提言2023
- Author(s)
  森貞直哉
- Organizer
  第32回日本泌尿器科学会
- Invited
- Data Source
  KAKENHI-PROJECT-22K08351
[Presentation] The comprehensive genetic analyses of cystic kidney disease in Japan.2023
- Author(s)
  Naoya Morisada, Ming Juan Ye, Yu Tanaka, Eri Okada, Kazumoto Iijima, Kandai Nozu.
- Organizer
  Human Genetics Asia 2023
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-22K08351
[Presentation] 遺伝性嚢胞性腎疾患の多様性.2022
- Author(s)
  島友子、向山弘展、田中侑、島袋渡、森貞直哉、野津寛大、飯島一誠、中西浩一
- Organizer
  第57回日本小児腎臓病学会学術集会
- Data Source
  KAKENHI-PROJECT-22K08351
[Presentation] 急速な腎嚢胞拡大に対してトルバプタン治療を導入した、常染色体優性多発性嚢胞腎と結節性硬化症併発の乳児例2022
- Author(s)
  木下亮、横山浩己、山田祐子、森貞直哉、野津寛大、難波範行
- Organizer
  第57回日本小児腎臓病学会学術集会
- Data Source
  KAKENHI-PROJECT-22K08351
[Presentation] The genetic basis of nephrotic syndrome and asymptomatic proteinuria in Japanese population.2022
- Author(s)
  榊原菜々、長野智那、ロサンティリニ、増田知佳、北角英晶、永井貞之、近藤淳、青砥悠哉、堀之内智子、森貞直哉、飯島一誠、野津寛大
- Organizer
  第57回日本小児腎臓病学会学術集会
- Data Source
  KAKENHI-PROJECT-22K08351
[Presentation] 血尿から診断に至ったシスチン尿症とARPKDのdual genetic diseaseの一例2022
- Author(s)
  青砥悠哉、森貞直哉、坂本信一、北角英明、増田知佳、永井貞之、近藤淳、榊原菜々、堀之内智子、野津寛大.
- Organizer
  第57回日本小児腎臓病学会学術集会
- Data Source
  KAKENHI-PROJECT-22K08351
[Presentation] 片側のびまん性腎腫大を契機に診断に至ったHDR症候群の１例.2022
- Author(s)
  飯塚裕典、長岡由修、富井祐治、下村遼太郎、櫻井のどか、平川賢史、布施茂登、森俊彦、森貞直哉、野津寛大
- Organizer
  第57回日本小児腎臓病学会学術集会
- Data Source
  KAKENHI-PROJECT-22K08351
[Presentation] 発性嚢胞腎の診断基準と遺伝子解析2022
- Author(s)
  森貞直哉
- Organizer
  第57回日本小児腎臓病学会学術集会
- Data Source
  KAKENHI-PROJECT-22K08351
[Presentation] 先天性腎尿路異常2022
- Author(s)
  森貞直哉
- Organizer
  第65回日本腎臓学会学術集会
- Data Source
  KAKENHI-PROJECT-22K08351
[Presentation] In vitro splicing解析によるHNF1B遺伝子イントロン変異の病原性の評価2022
- Author(s)
  辻一七子、榊原菜々、黒崎雅典、近藤淳、永井貞之、青砥悠哉、堀之内智子、森貞直哉、野津寛大.
- Organizer
  第57回日本小児腎臓病学会学術集会
- Data Source
  KAKENHI-PROJECT-22K08351
[Presentation] 姉妹間生体腎移植後に判明した無症候ドナーのMUC1遺伝子変異2022
- Author(s)
  玉懸直人、中村祐貴、伊藤貞利、露久保敬嗣、柿崎裕太、小山純司、清水健司、中屋来哉、藤澤宏光、臼田昌広、相馬淳、岡田絵里、森貞直哉、野津寛大
- Organizer
  第55回日本臨床腎移植学会
- Data Source
  KAKENHI-PROJECT-22K08351
[Presentation] Genetic autopsyで17q12欠失症候群と診断したPotter sequenceの1男児例2022
- Author(s)
  洪本加奈、森貞直哉、平久進也、大西徳子、船越徹、野津寛大、飯島一誠.
- Organizer
  第67回日本人類遺伝学会学術集会
- Data Source
  KAKENHI-PROJECT-22K08351
[Presentation] BOR症候群との鑑別に苦慮したTownes-Brocks症候群2021
- Author(s)
  内田奈生, 菊池敦生, 高橋俊成, 松木琢磨, 菅原典子, 熊谷直憲, 藤原幾磨, 森貞直哉, 野津寛大, 飯島一誠, 呉繁夫
- Organizer
  第55回日本小児腎臓病学会
- Data Source
  KAKENHI-PROJECT-18K08243
[Presentation] 小児腎領域の希少・難治性疾患の発見時期および契機に関する全国調査研究2021
- Author(s)
  濱田陸, 濱崎祐子, 上村治, 服部元史, 中西浩一, 丸山彰一, 伊藤秀一, 森貞直哉, 野津寛大, 張田豊, 原田涼子, 金子徹治, 本田雅敬, 石倉健司
- Organizer
  第55回日本小児腎臓病学会
- Data Source
  KAKENHI-PROJECT-18K08243
[Presentation] 妊娠中期に一過性羊水過少を呈したPAX2変異症例2021
- Author(s)
  梶保祐子, 神田祥一郎, 張田豊, 森貞直哉, 野津寛大, 飯島一誠, 岡明
- Organizer
  第55回日本小児腎臓病学会
- Data Source
  KAKENHI-PROJECT-18K08243
[Presentation] 出生時より腎嚢胞を認め遺伝子診断を行い10歳で末期腎不全となった常染色体優性多発性嚢胞腎(ADPKD)の女児2021
- Author(s)
  荒木義則, 河口亜津彩, 森貞直哉, 野津寛大, 飯島一誠
- Organizer
  第55回日本小児腎臓病学会
- Data Source
  KAKENHI-PROJECT-18K08243
[Presentation] 常染色体優性間質性腎疾患(ADTKD)の原因遺伝子と臨床像　ネフロン癆との比較2021
- Author(s)
  森貞直哉, 岡田絵里, 今澤俊之, 野津寛大, 飯島一誠．
- Organizer
  第55回日本小児腎臓病学会
- Data Source
  KAKENHI-PROJECT-18K08243
[Presentation] 千葉市3歳児検尿・腎エコー有所見者より発見された慢性腎臓病(CKD)と腎機能予後について2021
- Author(s)
  松村千恵子, 菅谷雅人, 升田真依, 小林雅代, 鵜野裕一, 金本勝義, 久野正貴, 松野大輔, 本間澄恵, 大嶋寛子, 福田亜純, 岡田絵里, 森貞直哉, 野津寛大, 末廣真美子, 山口淳．
- Organizer
  第55回日本小児腎臓病学会
- Data Source
  KAKENHI-PROJECT-18K08243
[Presentation] 小児腎疾患の遺伝カウンセリング2020
- Author(s)
  森貞直哉
- Organizer
  第63回日本腎臓学会
- Data Source
  KAKENHI-PROJECT-18K08243
[Presentation] SALL1変異例の遺伝型と臨床像の検討.2020
- Author(s)
  森貞直哉，野津寛大，飯島一誠
- Organizer
  第65回日本人類遺伝学会
- Data Source
  KAKENHI-PROJECT-18K08243
[Presentation] CEP104複合ヘテロ接合性バリアントによるJoubert症候群関連疾患の1例2020
- Author(s)
  田中悠、森貞直哉、小林由典、鶴田悟、野津寛大、飯島一誠
- Organizer
  第65回日本人類遺伝学会
- Data Source
  KAKENHI-PROJECT-18K08243
[Presentation] わが国における常染色体劣性多発性嚢胞腎(ARPKD)の遺伝型と臨床像2020
- Author(s)
  森貞直哉、野津寛大、中西浩一, 飯島一誠
- Organizer
  第123回日本小児科学会学術集会
- Data Source
  KAKENHI-PROJECT-18K08243
[Presentation] The causative genes of congenital anomalies of the kidney and urinary tract (CAKUT) in Japan.2019
- Author(s)
  Naoya Morisada, Kandai Nozu, Kazumoto Iijima.
- Organizer
  The 17th Japan-Korea-China Pediatric Nephrology Seminar
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-18K08243
[Presentation] 遺伝性腎疾患に対するプレシジョンメディスン　小児腎疾患における遺伝子診断の現況2019
- Author(s)
  森貞直哉，野津寛大，飯島一誠
- Organizer
  第54回日本小児腎臓病学会
- Invited
- Data Source
  KAKENHI-PROJECT-18K08243
[Presentation] 常染色体劣性Alport症候群39家系46人の臨床遺伝学的検討2019
- Author(s)
  堀之内智子，野津寛大，石河慎也，青砥悠哉，榊原菜々，長野智那，南川将吾，山村智彦，貝藤裕史，森貞直哉，飯島一誠
- Organizer
  第54回日本小児腎臓病学会
- Data Source
  KAKENHI-PROJECT-18K08243
[Presentation] ネフロン癆5例の臨床病理学的検討2019
- Author(s)
  藤丸季可，久富隆太郎，松田百代，野津寛大，飯島一誠，森貞直哉
- Organizer
  第62回日本腎臓学会
- Data Source
  KAKENHI-PROJECT-18K08243
[Presentation] 心不全・腎不全で診断された頭蓋外胚葉異形成(CED)の姉妹例2019
- Author(s)
  齊藤綾子，泉維昌，鈴木竜太郎，塚越隆司，佐藤琢郎，林立申，塩野淳子，堀米仁志，稲垣隆介，濱田陸，幡谷浩史，緒方謙太郎，森貞直哉，飯島一誠，須磨崎亮
- Organizer
  第54回日本小児腎臓病学会
- Data Source
  KAKENHI-PROJECT-18K08243
[Presentation] UMOD変異による常染色体優性間質性腎疾患（ADTKD）を合併したKBG症候群の1女性例2019
- Author(s)
  田中悠，森貞直哉，鈴木智大，大橋佳隆，野津寛大，飯島一誠．
- Organizer
  第64回日本人類遺伝学会
- Data Source
  KAKENHI-PROJECT-18K08243
[Presentation] 全前脳胞症microformを合併したCurrarino症候群の1女児例2019
- Author(s)
  森貞直哉，福澤宏明，小山淳二，野津寛大，飯島一誠
- Organizer
  第278回日本小児科学会兵庫県地方会
- Data Source
  KAKENHI-PROJECT-18K08243
[Presentation] IGF2遺伝子変異に起因するシルバーラッセル症候群の臨床的特徴　6例での検討2019
- Author(s)
  増永陽平，矢本香織，才津浩智，井上毅信，中川憲夫，中島久和，長谷川龍志，大幡泰久，難波範行，鞁嶋有紀，佐藤恭弘，磯島豪，小川英伸，山口有，吉橋博史，森貞直哉，飯島一誠，栗林良多，鈴村宏，藤澤泰子，鏡雅代，深見真紀，緒方勤
- Organizer
  第92回日本内分泌学会
- Data Source
  KAKENHI-PROJECT-18K08243
[Presentation] I型インターフェロン症を疑う9歳の女児症例2019
- Author(s)
  中岸保夫，西村明紘，浜田佳奈，岡本圭祐，水田麻雄，本田吉孝，宮本尚幸，井澤和司，貝藤裕史，黒澤寛史，清水正樹，森貞直哉，八角高裕，西小森隆太
- Organizer
  第29回日本小児リウマチ学会
- Data Source
  KAKENHI-PROJECT-18K08243
[Presentation] 遺伝性腎疾患の包括的遺伝子解析2019
- Author(s)
  森貞直哉，野津寛大，飯島一誠
- Organizer
  第64回日本人類遺伝学会
- Invited
- Data Source
  KAKENHI-PROJECT-18K08243
[Presentation] 新規STXBP1変異を認め大田原症候群と診断したSTXBP1脳症2019
- Author(s)
  山口宏，永瀬裕朗，西山将広，徳元翔一，豊嶋大作，丸山あずさ，森貞直哉，飯島一誠
- Organizer
  第53回日本てんかん学会
- Data Source
  KAKENHI-PROJECT-18K08243
[Presentation] OFD1に変異を有する生存男児4例の遺伝子型と臨床像2019
- Author(s)
  森貞直哉，榊原菜々，清水順也，長谷幸治，大田敏之，和田卓三，島友子，中西浩一，野津寛大，飯島一誠
- Organizer
  第41回日本小児遺伝学会学術集会
- Data Source
  KAKENHI-PROJECT-18K08243
[Presentation] 生直後に先天性胆道拡張症が疑われたZellweger症候群の一例2019
- Author(s)
  山本青葉，久枝義也，鵜川寿子，山田浩之，竹田知洋，天方秀輔，中尾厚，中原さおり，森貞直哉，飯島一誠，野津寛大
- Organizer
  第46回日本小児栄養消化器肝臓学会
- Data Source
  KAKENHI-PROJECT-18K08243
[Presentation] 巣状分節性糸球体硬化症(FSGS)を合併した6番染色体短腕中間部欠失症候群の一例2019
- Author(s)
  松野下夏樹，元生和宏，徳田央士，山本寛子，竹中佳奈栄，川崎圭一郎，森貞直哉，榊原菜々，南川将吾，野津寛大，飯島一誠
- Organizer
  第54回日本小児腎臓病学会
- Data Source
  KAKENHI-PROJECT-18K08243
[Presentation] X染色体不活化と腎病変に顕著な差を認めたOrofaciodigital syndrome 1の母子2019
- Author(s)
  渡邊佳孝，藤永周一郎，遠藤翔太，梅田千里，西野智彦，仲川真由，村上仁彦，森貞直哉，野津寛大，飯島一誠
- Organizer
  第49回日本腎臓学会東部学術大会
- Data Source
  KAKENHI-PROJECT-18K08243
[Presentation] ネフロン癆関連シリオパチー（NPHP-RC）の原因遺伝子と臨床像.2019
- Author(s)
  森貞直哉，榊原菜々，長野智那，野津寛大，飯島一誠.
- Organizer
  第122回日本小児科学会
- Data Source
  KAKENHI-PROJECT-18K08243
[Presentation] IFT140遺伝子異常によるネフロン癆患者の1例　走査電子顕微鏡を用いた繊毛形状観察2019
- Author(s)
  吉岡祐也，神田祥一郎，堀田茂，大野真由子，森貞直哉，野木歩美，白井陽子，三浦健一郎，横山美貴，飯島一誠，服部元史
- Organizer
  第54回日本小児腎臓病学会
- Data Source
  KAKENHI-PROJECT-18K08243
[Presentation] 新規PAX2遺伝子変異が同定されたnon-syndromic CAKUTの女児例2019
- Author(s)
  櫻谷浩志，藤永周一郎，梅田千里，富井祐治，渡邊佳孝，野津寛大，森貞直哉，飯島一誠
- Organizer
  第41回日本小児腎不全学会
- Data Source
  KAKENHI-PROJECT-18K08243
[Presentation] 小児科領域の遺伝性腎疾患と遺伝カウンセリング2019
- Author(s)
  森貞直哉
- Organizer
  第49回日本腎臓学会東部学術大会
- Invited
- Data Source
  KAKENHI-PROJECT-18K08243
[Presentation] ADTKD-MUC1/UMODの抗体診断法確立へ向けた検討2019
- Author(s)
  岡田絵里，森貞直哉，李紀廉，森維久郎，福田亜純，上原正樹，川口武彦，首村守俊，北村博司，野津寛大，飯島一誠，今澤俊之
- Organizer
  第62回日本腎臓学会
- Data Source
  KAKENHI-PROJECT-18K08243
[Presentation] 遺伝学的に診断できた常染色体劣性多発性嚢胞腎の遺伝型と臨床像2019
- Author(s)
  森貞直哉，野津寛大，中西浩一，飯島一誠
- Organizer
  第27回嚢胞性腎疾患研究会
- Data Source
  KAKENHI-PROJECT-18K08243
[Presentation] 兵庫県立こども病院におけるゲノム医療体制の構築～先天異常，出生前診断，がんゲノムと遺伝カウンセリング～2019
- Author(s)
  森貞直哉，平久進也，船越徹，長谷川大一郎，小阪嘉之，飯島一誠
- Organizer
  第17回兵庫県立病院学会
- Data Source
  KAKENHI-PROJECT-18K08243
[Presentation] 当科で遺伝学的に診断を確定したCFC症候群5例の臨床像2019
- Author(s)
  長坂美和子，森貞直哉，飯島一誠
- Organizer
  第64回日本人類遺伝学会
- Data Source
  KAKENHI-PROJECT-18K08243
[Presentation] KAT6B 遺伝子変異により診断した Young-Simpson 症候群の一例2019
- Author(s)
  柄川剛，森貞直哉，飯島一誠
- Organizer
  第41回日本小児遺伝学会学術集会
- Data Source
  KAKENHI-PROJECT-18K08243
[Presentation] ネフロン癆関連シリオパチーの原因遺伝子と臨床症状2019
- Author(s)
  森貞直哉，野津寛大，飯島一誠
- Organizer
  第62回日本腎臓学会
- Invited
- Data Source
  KAKENHI-PROJECT-18K08243
[Presentation] 遺伝学的に診断できた常染色体劣性多発性嚢胞腎の遺伝型と臨床像2019
- Author(s)
  森貞直哉，野津寛大，中西浩一，飯島一誠
- Organizer
  第28回発達腎研究会
- Data Source
  KAKENHI-PROJECT-18K08243
[Presentation] 次子の着床前診断を検討している遺伝性腎疾患の2家系2019
- Author(s)
  久富隆太郎，松田百代，中西浩一，森貞直哉，野津寛大，飯島一誠，藤丸季可
- Organizer
  第54回日本小児腎臓病学会
- Data Source
  KAKENHI-PROJECT-18K08243
[Presentation] FOXL2近傍領域欠失による眼瞼裂狭小症候群の１女児例2019
- Author(s)
  宍戸亜由美，森貞直哉，小野田素大，清水健司，大橋博文，飯島一誠
- Organizer
  第64回日本人類遺伝学会
- Data Source
  KAKENHI-PROJECT-18K08243
[Presentation] 学校検尿を契機に診断されたARPKDの16歳女児例2019
- Author(s)
  森口駿，神田祥一郎，森貞直哉，梶保祐子，張田豊，飯島一誠，岡明
- Organizer
  第54回日本小児腎臓病学会
- Data Source
  KAKENHI-PROJECT-18K08243
[Presentation] 先天性腎尿路異常の臨床像と遺伝子変異の関連性2018
- Author(s)
  石和翔，佐藤舞，金森透，西健太朗，奥津美夏，小椋雅夫，佐古まゆみ，亀井宏一，伊藤秀一，森貞直哉，野津寛大，飯島一誠，石倉健司
- Organizer
  第40回日本小児腎不全学会学術集会
- Data Source
  KAKENHI-PROJECT-18K08243
[Presentation] Copy Number Variations解析により遺伝学的診断が臨床診断と異なる結果を得た4症例の検討2018
- Author(s)
  長野智那, 野津寛大, 森貞直哉, 松村千恵子, 榊原菜々, 中西啓太, 藤村順也, 堀之内智子, 山村智彦, 南川将吾, 貝藤裕史, 飯島一誠
- Organizer
  第53回日本小児腎臓病学会
- Data Source
  KAKENHI-PROJECT-18K08243
[Presentation] WDR35遺伝子変異によるネフロン癆関連シリオパチーの同胞例2018
- Author(s)
  角田朋大, 柴野貴之, 西岡隆文, 寺崎英佑, 前川講平, 森貞直哉, 飯島一誠, 服部益治, 竹島泰弘
- Organizer
  第40回日本小児腎不全学会学術集会
- Data Source
  KAKENHI-PROJECT-18K08243
[Presentation] WDR35遺伝子変異によるネフロン癆関連シリオパチーの同胞例2018
- Author(s)
  西岡隆文, 柴野貴之, 角田朋大, 寺崎英佑, 前川講平, 森貞直哉, 飯島一誠, 服部益治, 竹島泰弘
- Organizer
  第48回日本腎臓学会西部学術大会
- Data Source
  KAKENHI-PROJECT-18K08243
[Presentation] 腎移植前精査中にHNF1B異常を同定した先天性腎尿路異常の1例2018
- Author(s)
  久富隆太郎, 三浦健一郎, 神田祥一郎, 谷口洋平, 長澤武, 伴英樹, 白井陽子, 金子直人, 薮内智朗, 高木陽子, 石塚喜世伸, 秋岡祐子,原太一, 森貞直哉, 飯島一誠, 服部元史
- Organizer
  第40回日本小児腎不全学会学術集会
- Data Source
  KAKENHI-PROJECT-18K08243
[Presentation] OFD1 に変異を有するシリオパチーの生存男児 3 例2018
- Author(s)
  榊原菜々, 森貞直哉, 青砥悠哉，石河慎也，長野智那，南川将吾，山村智彦，清水順也, 和田卓三, 島友子, 中西浩一, 野津寛大, 飯島一誠
- Organizer
  第40回日本小児腎不全学会学術集会
- Data Source
  KAKENHI-PROJECT-18K08243
[Presentation] 腎生検と遺伝子検査にて診断できた髄質嚢胞腎の一例2018
- Author(s)
  藤原光史, 森貞直哉, 嶋津啓二, 服部洸輝, 長谷川申治, 楠田梨沙, 飯島一誠, 田中敬雄
- Organizer
  第48回日本腎臓学会西部学術大会
- Data Source
  KAKENHI-PROJECT-18K08243
[Presentation] 次世代シークエンサーによるネフロン癆関連シリオパチーの包括的遺伝子解析2018
- Author(s)
  榊原菜々, 森貞直哉, 長野智那, 藤村順也, 堀之内智子, 中西啓太, 南川将吾, 山村智彦, 貝藤裕史, 野津寛大, 飯島一誠
- Organizer
  第53回日本小児腎臓病学会
- Data Source
  KAKENHI-PROJECT-18K08243
[Presentation] 常染色体優性間質性腎疾患（ADTKD）の原因遺伝子と臨床像2018
- Author(s)
  森貞直哉，榊原菜々，長野智那，運﨑愛，岡田絵里，今澤俊之，野津寛大，飯島一誠
- Organizer
  第63回日本人類遺伝学会
- Data Source
  KAKENHI-PROJECT-18K08243
[Presentation] 小児遺伝性疾患に対するゲノム医療体制の構築に向けて2018
- Author(s)
  森貞直哉
- Organizer
  第274回日本小児科学会兵庫県地方会
- Invited
- Data Source
  KAKENHI-PROJECT-18K08243
[Presentation] 遺伝子解析にて診断しえたARPKDの成人例2018
- Author(s)
  木下千春, 松田航一, 河合裕美子, 岡田あかね,森貞直哉, 飯島一誠
- Organizer
  第48回日本腎臓学会西部学術大会
- Data Source
  KAKENHI-PROJECT-18K08243
[Presentation] KAT6B異常によるGenitopatellar症候群の1女児例2018
- Author(s)
  森貞直哉，運﨑愛，坂田亮介，杉多良文，田中敏克，田中亮二郎，飯島一誠
- Organizer
  第275回日本小児科学会兵庫県地方会
- Data Source
  KAKENHI-PROJECT-18K08243
[Presentation] 3歳児検尿を契機に発見されたTTC21B変異の一例2018
- Author(s)
  白鳥孝俊, 櫻井俊輔, 阿部祥英, RiniRosanti,長野智那, 中西啓太, 野津寛大, 飯島一誠, 森貞直哉, 山口裕, 水野克己
- Organizer
  第40回日本小児腎不全学会学術集会
- Data Source
  KAKENHI-PROJECT-18K08243
[Presentation] 腎病理所見にて髄質嚢胞腎（MCKD）の特徴を認めた2例2017
- Author(s)
  岡田絵里、川口武彦、森維久郎、山田亜純、上原正樹、岡島真里、山川貴史、首村守俊、北村博司、森貞直哉、野津寛大、今澤俊之
- Organizer
  第47回日本腎臓学会東部学術大会
- Data Source
  KAKENHI-PROJECT-15K09261
[Presentation] 海綿状血管腫を合併した鰓弓耳腎(Branchio-oto-renal)症候群の1例2017
- Author(s)
  岩城拓磨、近藤健夫、小西行彦、福家典子、郡司朗子、岡田　仁、日下隆、若林誉幸、森貞直哉、飯島一誠
- Organizer
  第52回日本小児腎臓病学会学術集会
- Data Source
  KAKENHI-PROJECT-15K09261
[Presentation] 原因遺伝子が同定された稀少ネフロン癆関連シリオパチー症例の検討2017
- Author(s)
  森貞直哉、叶明娟、庄野朱美、野津寛大、飯島一誠
- Organizer
  第62回日本人類遺伝学会
- Data Source
  KAKENHI-PROJECT-15K09261
[Presentation] 未診断疾患における網羅的ゲノム解析時代の遺伝カウンセリング小児CKD(慢性腎臓病)の原因遺伝子解析と遺伝カウンセリング2017
- Author(s)
  森貞直哉、野津寛大、飯島一誠
- Organizer
  第41回日本遺伝カウンセリング学会学術集会
- Invited
- Data Source
  KAKENHI-PROJECT-15K09261
[Presentation] EYA1遺伝子欠損による鰓弓耳腎症候群の1例2017
- Author(s)
  岩重洋平、伊東悠貴、嘉藤光歩、大棟浩平、杉谷盛太、前沢浩司、東義人、森貞直哉、野津寛大、飯島一誠
- Organizer
  第47回日本腎臓学会西部学術大会
- Data Source
  KAKENHI-PROJECT-15K09261
[Presentation] OFD1ヘミ接合性変異を認めたネフロン癆関連シリオパチーの1男児例2017
- Author(s)
  森貞直哉、清水順也、庄野朱美、野津寛大、飯島一誠
- Organizer
  第271回　日本小児科学会兵庫県地方会
- Data Source
  KAKENHI-PROJECT-15K09261
[Presentation] Clinical Diagnosis of Senior Loken Syndrome in a Patient with SDCCAG8 Mutation Genetically Diagnosed as Having Bardet-Biedle Syndrome2017
- Author(s)
  Yuko Fujii, Hiroshi Tamai, Akira Ashida, Hideki Matsumura, Akihiko Shirasu, Satoshi Yamazaki, Hyogo Nakakura, Naoya Morisada, Kazumoto Iijima, Motoshi Hattori
- Organizer
  Kidney Week (American Society of Nephrology) 2017
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K09261
[Presentation] NPH・MCKDの遺伝子診断と病型2017
- Author(s)
  森貞直哉、野津寛大、飯島一誠
- Organizer
  第60回日本腎臓学会学術総会
- Invited
- Data Source
  KAKENHI-PROJECT-15K09261
[Presentation] 家族内検索が有用であった腎コロボーマ症候群の一家系2017
- Author(s)
  溝端理恵、大塚泰史、陣内久美子、大串栄彦、岡政史、佐藤忠司、青木茂久、森貞直哉、叶明娟、飯島一誠、松尾宗明
- Organizer
  第52回日本小児腎臓病学会学術集会
- Data Source
  KAKENHI-PROJECT-15K09261
[Presentation] Potter Sequenceの原因となり得る遺伝性腎泌尿器疾患2017
- Author(s)
  森貞直哉
- Organizer
  Dysmorphologyの夕べ
- Invited
- Data Source
  KAKENHI-PROJECT-15K09261
[Presentation] Comprehensive analysis using target sequencing panel for congenital anomalies of the kidney and urinary tract and nephronophthisis in Japan2017
- Author(s)
  Naoya Morisada, Akemi Shono, Kandai Nozu, Ryojiro Tanaka, Kazumoto Iijima
- Organizer
  American society of Human Genetics 2017
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K09261
[Presentation] 出生前に常染色体劣性多発性嚢胞腎と画像診断され遺伝子診断を行った2症例2017
- Author(s)
  金井麻子、武藤はる香、林周作、金川武司、岡本陽子、石井桂介、光田信明、岡本伸彦、森貞直哉、飯島一誠
- Organizer
  第41回日本遺伝カウンセリング学会学術集会
- Data Source
  KAKENHI-PROJECT-15K09261
[Presentation] 3歳時に蛋白尿を契機に発見されたmulticentric carpotarsal osteolysis syndromeの1例2017
- Author(s)
  白鳥孝俊、稲熊洋祐、中川拓、神田杏子、森貞直哉、飯島一誠、田中亮二郎
- Organizer
  第52回日本小児腎臓病学会学術集会
- Data Source
  KAKENHI-PROJECT-15K09261
[Presentation] NGSターゲット遺伝子シークエンスパネルによるCAKUTおよびNPHの包括的原因遺伝子解析2017
- Author(s)
  森貞直哉、庄野朱美、野津寛大、忍頂寺毅史、田中亮二郎、飯島一誠
- Organizer
  第60回日本腎臓学会学術総会
- Data Source
  KAKENHI-PROJECT-15K09261
[Presentation] OFD1ヘミ接合性ミスセンス変異を認めたネフロン癆関連シリオパチーの1男児例2017
- Author(s)
  清水順也、森貞直哉、飯島一誠、神農陽子、城謙輔、竹村司、久保俊英、塚原宏一
- Organizer
  第52回日本小児腎臓病学会学術集会
- Data Source
  KAKENHI-PROJECT-15K09261
[Presentation] NGSターゲット遺伝子シークエンスパネルによるCAKUTおよびNPHの包括的原因遺伝子解析2017
- Author(s)
  森貞直哉、庄野朱美、野津寛大、忍頂寺毅史、叶明娟、井藤奈央子、神田祥一郎、亀井宏一、石倉健司、伊藤秀一、山本勝輔、塚口裕康、里村憲一、田中亮二郎、飯島一誠
- Organizer
  第52回日本小児腎臓病学会学術集会
- Data Source
  KAKENHI-PROJECT-15K09261
[Presentation] 遺伝性腎疾患2016
- Author(s)
  野津寛大, 森貞直哉, 飯島一誠
- Organizer
  第59回日本腎臓学会学術総会
- Place of Presentation
  パシフィコ横浜（神奈川県横浜市）
- Year and Date
  2016-06-17
- Data Source
  KAKENHI-PROJECT-15K09261
[Presentation] PAX2変異のある先天性腎尿路奇形に合併した後腹膜成熟奇形腫にectopic immature renal tissueを認めた一例2016
- Author(s)
  菅原典子, 永野千代子, 稲垣徹史, 森貞直哉, 野津寛大, 飯島一誠
- Organizer
  第46回日本腎臓学会東部学術大会
- Place of Presentation
  京王プラザホテル（東京都新宿区）
- Year and Date
  2016-10-07
- Data Source
  KAKENHI-PROJECT-15K09261
[Presentation] The comprehensive genetic analysis of congenital anomalies of the kidney and urinary tract (CAKUT) in Japan2016
- Author(s)
  Naoya Morisada, Akemi Shono, Mariko Taniguchi-Ikeda, Kandai Nozu, Koichi Kamei, Kenji Ishikura, Shuichi Ito, Ryojiro Tanaka, Hisahide Nishio, Kazumoto Iijima
- Organizer
  The 13th International Congress of Human GeneticsKyoto
- Place of Presentation
  Kyoto (Japan)
- Year and Date
  2016-04-03
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K09261
[Presentation] 偽性バーター症候群を呈し次世代シークエンサーによりPAX2遺伝子変異が同定された腎低異形成の1女児例2016
- Author(s)
  波多江健, 慶田裕美, 檜山麻衣子, 黒木理恵, 黒川麻里, 山中一郎, 森貞直哉, 野津寛大, 飯島一誠
- Organizer
  第51回日本小児腎臓病学会学術集会
- Place of Presentation
  ウインクあいち（愛知県名古屋市）
- Year and Date
  2016-07-07
- Data Source
  KAKENHI-PROJECT-15K09261
[Presentation] 次世代シークエンサーによる稀少ネフロン癆関連シリオパチーの原因遺伝子解析2016
- Author(s)
  森貞直哉，野津寛大，庄野朱美，忍頂寺毅史，田中亮二郎，飯島一誠
- Organizer
  第39回日本小児遺伝学会
- Place of Presentation
  慶應義塾大学三田北館ホールと会議室（東京）
- Year and Date
  2016-12-09
- Data Source
  KAKENHI-PROJECT-15K09261
[Presentation] Rare nephronophthisis related ciliopathy identified by next generation sequencing in ten non-consanguineous families2016
- Author(s)
  Naoya Morisada, Akemi Shono, Kandai Nozu, Takeshi Ninchoji, Koji Nagatani, Toshiyuki Ohta, Junya Shimizu, Takahisa Yoshikawa, Ken Saida, Shingo Ishimori, Masato Yasui, China Nagano, Koichi Kamei, Kenji Ishikura, Shuichi Ito, Ryojiro Tanaka, Kazumoto Iijima
- Organizer
  American Society of Human Genetics 2016
- Place of Presentation
  Vancouver (Canada)
- Year and Date
  2016-10-18
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K09261
[Presentation] 左後腹膜成熟奇形腫にEctopic　immature renal　tissueを伴った左無形成腎・右低形成腎の一例2016
- Author(s)
  菅原典子,永野千代子,安藤亮,遠藤尚文,佐藤智樹,高橋立子,手塚文明,稲垣徹史,佐藤篤,森貞直哉,野津寛大,飯島一誠
- Organizer
  第51回日本小児腎臓病学会学術集会
- Place of Presentation
  ウインクあいち（愛知県名古屋市）
- Year and Date
  2016-07-07
- Data Source
  KAKENHI-PROJECT-15K09261
[Presentation] 平滑筋腫を合併したアルポート症候群の臨床像と遺伝学的検討2016
- Author(s)
  南川将吾, 野津寛大, 中西啓太, 藤村順也, 堀之内智子, 神吉直宙, 忍頂寺毅史, 長野智那, 後藤芳充, 平野大志, 藤永周一郎, 高橋英彦, 森下高弘, 森貞直哉, 田村雅仁, 飯島一誠
- Organizer
  第51回日本小児腎臓病学会学術集会
- Place of Presentation
  ウインクあいち（愛知県名古屋市）
- Year and Date
  2016-07-07
- Data Source
  KAKENHI-PROJECT-15K09261
[Presentation] 次世代シークエンサーによる重症心身障害者施設での原因遺伝子解析2016
- Author(s)
  森貞直哉, 加藤威, 加藤神奈, 島亜衣, 藤田花織, 西村範行, 西尾久英, 和田博子, 飯島一誠
- Organizer
  第119回日本小児科学会学術集会
- Place of Presentation
  ロイトン札幌、ホテルさっぽろ芸文館（北海道札幌市）
- Year and Date
  2016-05-13
- Data Source
  KAKENHI-PROJECT-15K09261
[Presentation] CAKUT及び原因不明の小児期発症慢性腎機能障害患者への包括的原因遺伝子解析2016
- Author(s)
  森貞直哉, 野津寛大, 庄野朱美, 忍頂寺毅史, 叶明娟, 井藤奈央子, 神田祥一郎, 亀井宏一, 石倉健司, 伊藤秀一, 山本勝輔, 里村憲一, 服部元史, 田中亮二郎, 西尾久英, 飯島一誠
- Organizer
  第51回日本小児腎臓病学会学術集会
- Place of Presentation
  ウインクあいち（愛知県名古屋市）
- Year and Date
  2016-07-07
- Data Source
  KAKENHI-PROJECT-15K09261
[Presentation] 次世代シークエンサーとアレイCGHによる神経発達疾患の網羅的原因遺伝子解析2016
- Author(s)
  森貞直哉
- Organizer
  南阪神小児神経疾患研究会
- Place of Presentation
  西宮すなご医療福祉センター（兵庫県西宮市）
- Invited
- Data Source
  KAKENHI-PROJECT-15K09261
[Presentation] ネフロン発生にかかわる遺伝子とその腎外での役割と異常の検出方法2016
- Author(s)
  森貞直哉, 飯島一誠
- Organizer
  第59回日本腎臓学会学術総会
- Place of Presentation
  パシフィコ横浜（神奈川県横浜市）
- Year and Date
  2016-06-17
- Data Source
  KAKENHI-PROJECT-15K09261
[Presentation] 女性先天性腎尿路奇形（Congenital Anomalies of the Kidney and Urinary Tract：CAKUT）患者の生殖器奇形合併について2016
- Author(s)
  神田祥一郎、森貞直哉, 滝澤慶一, 富井祐治, 濱浩隆, 金子直人, 薮内智朗, 中野栄治, 多田憲正, 石塚喜世伸, 近本裕子, 秋岡祐子, 三浦健一郎, 飯島一誠, 服部元史
- Organizer
  第51回日本小児腎臓病学会学術集会
- Place of Presentation
  ウインクあいち（愛知県名古屋市）
- Year and Date
  2016-07-07
- Data Source
  KAKENHI-PROJECT-15K09261
[Presentation] X染色体連鎖型Alport症候群女性267例の遺伝学的・臨床的検討2016
- Author(s)
  山村智彦, 野津寛大, 中西啓太, 堀之内智子, 藤村順也, 南川将吾, 神吉直宙, 忍頂寺毅史, 貝藤裕史, 森貞直哉, 中西浩一, 吉川徳茂, 飯島一誠
- Organizer
  第51回日本小児腎臓病学会学術集会
- Place of Presentation
  ウインクあいち（愛知県名古屋市）
- Year and Date
  2016-07-07
- Data Source
  KAKENHI-PROJECT-15K09261
[Presentation] 頻回の尿路感染症を契機に子宮膀胱瘻の診断に至ったHDR (hypoparathyroidism, deafness, renal dysplasia)症候群の1例2016
- Author(s)
  富井祐治,神田祥一朗,森貞直哉,滝澤慶一,笹田洋平,薮内智朗,金子直人,佐藤泰征,石塚喜世伸,近本裕子,秋岡祐子,三浦健一郎,飯島一誠,服部元史
- Organizer
  第51回日本小児腎臓病学会学術集会
- Place of Presentation
  ウインクあいち（愛知県名古屋市）
- Year and Date
  2016-07-07
- Data Source
  KAKENHI-PROJECT-15K09261
[Presentation] CAKUTとネフロン癆の臨床遺伝学2016
- Author(s)
  森貞直哉
- Organizer
  第24回中部日本小児腎臓病研究会
- Place of Presentation
  信州大学（長野県松本市）
- Invited
- Data Source
  KAKENHI-PROJECT-15K09261
[Presentation] 頻回の尿路感染症を契機に子宮膀胱瘻の診断に至ったHDR症候群の1例2016
- Author(s)
  富井祐治,神田祥一朗,森貞直哉,滝澤慶一,笹田洋平,薮内智朗,金子直人,佐藤泰征,石塚喜世伸,近本裕子,秋岡祐子,三浦健一郎,飯島一誠,服部元史
- Organizer
  第46回日本腎臓学会東部学術大会
- Place of Presentation
  京王プラザホテル（東京都新宿区）
- Year and Date
  2016-10-07
- Data Source
  KAKENHI-PROJECT-15K09261
[Presentation] BOR（Branchio－Oto－Renal）症候群が確定した腎移植の1例2016
- Author(s)
  濱浩隆, 神田祥一郎, 森貞直哉, 熊谷直憲, 滝澤慶一, 富井祐治, 薮内智朗, 金子直人, 中野栄治, 多田憲正, 菅原典子, 石塚喜世伸, 近本裕子, 秋岡祐子, 飯島一誠, 服部元史
- Organizer
  第51回日本小児腎臓病学会学術集会
- Place of Presentation
  ウインクあいち（愛知県名古屋市）
- Year and Date
  2016-07-07
- Data Source
  KAKENHI-PROJECT-15K09261
[Presentation] 次世代シークエンサーにて診断に至った SDCCAG8変異によるネフロン虜の女児例2016
- Author(s)
  中西啓太, 忍頂寺毅史, 藤村順也, 堀之内智子, 南川将吾, 山村智彦, 神吉直宙, 石森真吾, 野津寛大, 森貞直哉, 飯島一誠
- Organizer
  第51回日本小児腎臓病学会学術集会
- Place of Presentation
  ウインクあいち（愛知県名古屋市）
- Year and Date
  2016-07-07
- Data Source
  KAKENHI-PROJECT-15K09261
[Presentation] 臨床的にAlagille症候群が疑われたが次世代シークエンサーによる解析でNPHP3遺伝子変異を認めRHPD1と診断した1例2016
- Author(s)
  白鳥孝俊, 中川拓, 神田杏子, 叶明娟, 森貞直哉, 飯島一誠, 田中亮二郎
- Organizer
  第51回日本小児腎臓病学会学術集会
- Place of Presentation
  ウインクあいち（愛知県名古屋市）
- Year and Date
  2016-07-07
- Data Source
  KAKENHI-PROJECT-15K09261
[Presentation] 腎外症状のないNPHP1遺伝子欠失若年性ネフロン癆の2例2015
- Author(s)
  堀朋子, 上野茉央, 前川明洋, 中沢将之, 岩崎啓介, 早田宏, 森貞直哉, 飯島一誠, 澄川耕二, 西野友哉
- Organizer
  第45回日本腎臓学会西部学術大会
- Place of Presentation
  金沢市
- Year and Date
  2015-10-23
- Data Source
  KAKENHI-PROJECT-15K09261
[Presentation] Branchio-oto-renal（BOR）症候群の原因遺伝子と腎症状に関する検討2015
- Author(s)
  森貞直哉、野津寛大、松永達雄、飯島一誠
- Organizer
  第58回日本腎臓学会学術集会
- Place of Presentation
  名古屋市
- Year and Date
  2015-06-05
- Data Source
  KAKENHI-PROJECT-15K09261
[Presentation] HNF1B変異が同定されたNODAT(New-Onset Diabetes After Transplantation)の1例2015
- Author(s)
  神田祥一郎、森貞直哉、秋岡祐子、滝澤慶一、富井祐治、金子直人、薮内智朗、濱浩隆、中野栄治、多田憲正、石塚喜世伸、近本裕子、飯島一誠、服部元史
- Organizer
  第45回日本腎臓学会東部学術大会
- Place of Presentation
  東京都
- Year and Date
  2015-10-02
- Data Source
  KAKENHI-PROJECT-15K09261
[Presentation] 巨大腎腫大を認めた口顔指症候群1型（OFD1）の一例2015
- Author(s)
  竹村浩至、早見典子、乳原善文、今福　礼、川田真宏、住田圭一、上野智敏、三瀬広記、平松里佳子、長谷川詠子、諏訪部達也、星野純一、澤直樹、森貞直哉、飯島一誠、高市憲明
- Organizer
  第45回日本腎臓学会東部学術大会
- Place of Presentation
  東京都
- Year and Date
  2015-10-02
- Data Source
  KAKENHI-PROJECT-15K09261
[Presentation] PAX2異常を認めた腎コロボーマ症候群の2例2015
- Author(s)
  山本雅紀、藤田直也, 深山雄大, 大前隆志, 森貞直哉, 飯島一誠
- Organizer
  第50回日本小児腎臓病学会学術集会
- Place of Presentation
  神戸市
- Year and Date
  2015-06-18
- Data Source
  KAKENHI-PROJECT-15K09261
[Presentation] Target gene sequencing panelを用いた先天性腎尿路奇形症候群（CAKUT）の網羅的遺伝子解析2015
- Author(s)
  森貞直哉、庄野朱美、野津寛大、叶明娟、神田祥一郎、井藤奈央子、亀井宏一、伊藤秀一、山本勝輔、里村憲一、西尾久英、飯島一誠
- Organizer
  第60回日本人類遺伝学会
- Place of Presentation
  東京都
- Year and Date
  2015-10-14
- Data Source
  KAKENHI-PROJECT-15K09261
[Presentation] 肝酵素上昇を契機にHNF1b変異が同定されたCAKUT(Congenital Anomalies of the Kidney and Urinary Tract)の1例2015
- Author(s)
  神田祥一郎, 森貞直哉, 秋岡祐子, 金子直人, 苗代有鈴, 薮内智朗, 多田憲正, 宮井貴之, 菅原典子, 石塚喜世伸, 近本裕子, 飯島一誠, 服部元史
- Organizer
  第50回日本小児腎臓病学会学術集会
- Place of Presentation
  神戸市
- Year and Date
  2015-06-18
- Data Source
  KAKENHI-PROJECT-15K09261
[Presentation] Branchio-oto-renal（BOR）症候群の原因遺伝子と腎症状に関する検討2015
- Author(s)
  森貞直哉、野津寛大、松永達雄、飯島一誠
- Organizer
  第50回日本小児腎臓病学会学術集会
- Place of Presentation
  神戸市
- Year and Date
  2015-06-18
- Data Source
  KAKENHI-PROJECT-15K09261
[Presentation] Nutcracker症候群を合併した軽症IgA腎症の1例2011
- Author(s)
  石森真吾、大坪裕美、橋本総子、橋村裕也、貝藤裕史、森貞直哉、飯島一誠、松尾雅文
- Organizer
  第24回近畿小児科学会
- Place of Presentation
  神戸国際会議場(兵庫県)
- Year and Date
  2011-03-12
- Data Source
  KAKENHI-PROJECT-20390240
[Presentation] LINE-1レトロトランスポゾンの置換によるEYA1遺伝子変異をともなったbranchio-oto-renal症候群の1女児例2010
- Author(s)
  森貞直哉、野津寛大、Nanna Dahl Rendtorff、森下高弘、宮川隆之、松元透、LisbethTrahebjaerg、飯島一誠、松尾雅文、楠原浩一
- Organizer
  第45回日本小児腎臓病学会学術集会
- Place of Presentation
  大阪国際会議場(大阪府)
- Year and Date
  2010-07-02
- Data Source
  KAKENHI-PROJECT-20390240
[Presentation] Protective Role of Nitric Oxide Synthase System Against Renal Remodeling: Lesson From Mice Lacking All Three Nitric Oxide Synthase Isoforms2010
- Author(s)
  森貞直哉、渡辺聖二、野村昌良、佐羽内研、松本哲朗、下川宏明、柳原延章、白幡聡、楠原浩一、筒井正人
- Organizer
  第74回日本循環器学会
- Place of Presentation
  京都
- Year and Date
  2010-03-06
- Data Source
  KAKENHI-PROJECT-20790605
[Presentation] Protective Role of Nitric Oxide Synthase System Against Renal Remodeling : Lesson From Mice Lacking All Three Nitric Oxide Synthase Isoforms2010
- Author(s)
  Naoya Morisada, Masato Tsutsui et al
- Organizer
  第74回日本循環器学会
- Place of Presentation
  京都市(国立京都国際会館)
- Year and Date
  2010-03-06
- Data Source
  KAKENHI-PROJECT-20790605
[Presentation] 平滑筋腫合併アルポート症候群(DL-AS)の遺伝学的検討2010
- Author(s)
  岡政史、野津寛大、森貞直哉、平野大志、藤永周一郎、忍頂寺毅史、橋村裕也、貝藤裕史、飯島一誠、松尾雅文
- Organizer
  第53回日本腎臓学会学術総会
- Place of Presentation
  神戸国際会議場(兵庫県)
- Year and Date
  2010-06-16
- Data Source
  KAKENHI-PROJECT-20390240
[Presentation] Genetic Disruption of All Nitric Oxide Synthase Isoforms Causes Accelerated Renal Lesion Formation in Mice in Vivo2009
- Author(s)
  Naoya Morisada, Masato Tsutsui, Masayoshi Nomura, Ken Sabanai, Seiji Watanabe, Tetsuro Matsumoto, Hiroaki Shimokawa, Akira Shirahata, Nobuyuki Yanagihara
- Organizer
  第73回日本循環器学会
- Place of Presentation
  大阪
- Year and Date
  2009-03-22
- Data Source
  KAKENHI-PROJECT-20790605
[Presentation] 腎病変形成に対するNO合成酵素システムの保護的役割2009
- Author(s)
  森貞直哉、筒井正人、古野由美、渡邊聖二、野村昌良、松本哲郎、下川宏明、柳原延章、白幡聡、芹野良太、田村雅仁
- Organizer
  第1回腎と高血圧研究会
- Place of Presentation
  東京
- Year and Date
  2009-07-04
- Data Source
  KAKENHI-PROJECT-20790605
[Presentation] Accelerated Renal Lesion Formation in Mice Lacking Entire Nitric Oxide Synthase System2009
- Author(s)
  Naoya Morisada, Masato Tsutsui, Yumi Furuno, Tetsuro Matsumoto, Masahito Tamura, Hiroaki Shimokawa, Akira Shirahata, Koichi Kusuhara, Nobuyuki Yanagihara
- Organizer
  American Society of Nephrology 2009
- Place of Presentation
  San Diego
- Year and Date
  2009-10-29
- Data Source
  KAKENHI-PROJECT-20790605
[Presentation] Accelerated Renal Lesion Formation in Mice Lacking Entire Nitric Oxide Synthase System2009
- Author(s)
  Naoya Morisada, Masato Tsutsui et al
- Organizer
  American Society of Nephrology, Renal Week 2009
- Place of Presentation
  San Diego(USA)
- Year and Date
  2009-10-29
- Data Source
  KAKENHI-PROJECT-20790605
[Presentation] 尿管結紮後の腎病変形成におけるNO合成酵素システムの腎保護作用 : NO, ARBの腎保護効果2008
- Author(s)
  森貞直哉、筒井正人、野村昌良、佐羽内研、谷本昭英、他
- Organizer
  第51回日本腎臓学会
- Place of Presentation
  福岡市
- Year and Date
  2008-05-11
- Data Source
  KAKENHI-PROJECT-20790605
[Presentation] Genetic Disruption of All Nitric Oxide Synthase Isoforms Causes Accelerated Renal Lesion Formation in Mice in Vivo2008
- Author(s)
  Naoya Morisada, Masato Tsutsui, et.al.
- Organizer
  American Society of Nephrology, Renal Week 2008
- Place of Presentation
  Philadelphia (USA)
- Year and Date
  2008-11-05
- Data Source
  KAKENHI-PROJECT-20790605
[Presentation] 尿管結紮後の腎病変形成におけるNO合成酵素系の保護的役割 : NO合成酵素完全欠損マウスにおける検討2008
- Author(s)
  森貞直哉、筒井正人、野村昌良、佐羽内研、谷本昭英、他
- Organizer
  第43回日本小児腎臓病学会
- Place of Presentation
  福岡市
- Year and Date
  2008-06-14
- Data Source
  KAKENHI-PROJECT-20790605
[Presentation] 尿管結紮後の腎病変形成におけるNO合成酵素システムの腎保護作用:NO, ARBの腎保護効果2008
- Author(s)
  森貞直哉、筒井正人、野村昌良、佐羽内研、谷本昭英、渡邊聖二、西井久枝、松本哲朗、下川宏明、笹栗靖之、柳原延章、白幡聡
- Organizer
  第51回日本腎臓学会
- Place of Presentation
  福岡市
- Year and Date
  2008-05-31
- Data Source
  KAKENHI-PROJECT-20790605
[Presentation] Genetic Disruption of All Nitric Oxide Synthase Isoforms Causes Accelerated Renal Lesion Formation in Mice in Vivo2008
- Author(s)
  Naoya Morisada, Masato Tsutsui, Masayoshi Nomura, Ken Sabanai, Seiji Watanabe, Tetsuro Matsumoto, Hiroaki Shimokawa, Akira Shirahata, Nobuyuki Yanagihara
- Organizer
  American Society of Nephrology 2008
- Place of Presentation
  Philadelphia
- Year and Date
  2008-11-06
- Data Source
  KAKENHI-PROJECT-20790605
[Presentation] 尿管結紮後の腎病変形成におけるNO合成酵素系の保護的役割:NO合成酵素完全欠損マウスにおける検討2008
- Author(s)
  森貞直哉、筒井正人、野村昌良、佐羽内研、谷本昭英、渡邊聖二、西井久枝、松本哲郎、笹栗靖之、下川宏明、柳原延章、白幡聡
- Organizer
  第43回日本小児腎臓病学会
- Place of Presentation
  福岡市
- Year and Date
  2008-06-14
- Data Source
  KAKENHI-PROJECT-20790605

1. IIJIMA Kazumoto (00240854)

# of Collaborated Projects: 2 results

# of Collaborated Products: 67 results
2. NAGATA Michio (10192238)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
3. NAKAYAMA Makioko (80469999)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
4. NOZU Kandai (70362796)

# of Collaborated Projects: 1 results

# of Collaborated Products: 12 results
5. HASHIMURA Yuya (80457077)

# of Collaborated Projects: 1 results

# of Collaborated Products: 2 results
6. 庄野朱美 (10535066)

# of Collaborated Projects: 1 results

# of Collaborated Products: 16 results
7. MORI Katsuhito

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
8. NAKANISHI Koichi

# of Collaborated Projects: 0 results

# of Collaborated Products: 11 results
9. SHIMA Yuko

# of Collaborated Projects: 0 results

# of Collaborated Products: 11 results
10. 西尾久英

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
11. 服部元史

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
12. 上殿英記

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
13. 絵本正憲

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
14. チョンピンフィー

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
15. 堀之内智子

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

Morisada Naoya 森貞 直哉

森貞 直哉 モリサダ ナオヤ

MORISADA Naoya 森貞 直哉

Research Projects

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Co-Researchers

Construction of genomic medical infrastructure and development of specific treatments for pediatric polycystic kidney diseasePrincipal Investigator

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Construction of infrastructure for genomic medicine in autosomal dominant tubulointerstitial kidney diseasePrincipal Investigator

Principal Investigator

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Identification of new causative gene for congenital anomalies of the kidney and urinary tract (CAKUT) and elucidation for pathology of CAKUT by iPS cellsPrincipal Investigator

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Identification of novel genes for congenital anomalies of Kidney and urinary tract (CAKUT) by CNV analyses and development of comprehensive gene testing for CAKUT

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Genetic disruption of all nitric oxide synthase isoforms causes accelerated renal interstitial fibrosis in mice in vivoPrincipal Investigator

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[Book] 遺伝性甲状腺疾患のすべて2021

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[Book] 腎と透析【多発性嚢胞腎-基礎と臨床のトピックス】 臨床 遺伝カウンセリングの実際2016

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[Book] 腎臓内科・泌尿器科 CAKUT2016

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[Book] 小児疾患診療のための病態生理2 改訂5版2015

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[Book] こどもの病気 遺伝について聞かれたら2015

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[Journal Article] Novel Digenic Variants in &lt;i&gt;COL4A4&lt;/i&gt; and &lt;i&gt;COL4A5&lt;/i&gt; Causing X-Linked Alport Syndrome: A Case Report2024

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[Journal Article] End-stage ADPKD with a low-frequency PKD1 mosaic variant accelerated by chemoradiotherapy2024

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[Journal Article] Genetic autopsy and genetic counseling for a case of fatal oligohydramnios due to de novo 17q12 deletion syndrome2023

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[Journal Article] Comprehensive genetic analysis using next-generation sequencing for the diagnosis of nephronophthisis-related ciliopathies in the Japanese population2022

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Journal Title

Morisada Naoya 森貞直哉

森貞直哉モリサダナオヤ

MORISADA Naoya 森貞直哉

[Book] 腎と透析【多発性嚢胞腎-基礎と臨床のトピックス】臨床　遺伝カウンセリングの実際2016

[Book] 腎臓内科・泌尿器科　CAKUT2016

[Book] 小児疾患診療のための病態生理2　改訂5版2015

[Book] こどもの病気　遺伝について聞かれたら2015

[Journal Article] Novel Digenic Variants in <i>COL4A4</i> and <i>COL4A5</i> Causing X-Linked Alport Syndrome: A Case Report2024