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Human Genome Variation|December 6, 2016
Alternative splicing of a cryptic exon embedded in intron 6 of SMN1 and SMN2Satomi Yoshimoto, Nur Imma Fatimah Harahap, Yuko Hamamura, et al.Kidney Medicine|April 24, 2026
Serial Kidney Biopsies Reveal Progressive Pathology in Townes-Brocks Syndrome: A Case ReportSusumu Tsunoda, Shigekazu Kurihara, Toshiharu Ueno, et al.Kidney International Reports|January 1, 2019
Clinical and Genetic Characteristics in Patients With Gitelman SyndromeJunya Fujimura, Kandai Nozu, Tomohiko Yamamura, et al.Scientific Reports|September 5, 2019
Determination of the pathogenicity of known COL4A5 intronic variants by in vitro splicing assayTomoko Horinouchi, Kandai Nozu, Tomohiko Yamamura, et al.Nitric Oxide : Biology and Chemistry|July 20, 2011
Crucial vasculoprotective role of the whole nitric oxide synthase system in vascular lesion formation in mice: Involvement of bone marrow-derived cellsYumi Furuno, Tsuyoshi Morishita, Yumiko Toyohira, et al.Kidney International Reports|December 23, 2017
Natural History and Genotype-Phenotype Correlation in Female X-Linked Alport SyndromeTomohiko Yamamura, Kandai Nozu, Xue Jun Fu, et al.Cardiovascular Research|March 23, 2010
Severe dyslipidaemia, atherosclerosis, and sudden cardiac death in mice lacking all NO synthases fed a high-fat dietYasuko Yatera, Kiyoko Shibata, Yumi Furuno, et al.Journal of Human Genetics|October 28, 2016
Cryptic exon activation in SLC12A3 in Gitelman syndromeKandai Nozu, Yoshimi Nozu, Keita Nakanishi, et al.Journal of Human Genetics|April 25, 2019
Molecular assay for an intronic variant in NUP93 that causes steroid resistant nephrotic syndromeRini Rossanti, Akemi Shono, Kenichiro Miura, et al.Molecular Genetics & Genomic Medicine|June 17, 2020
Pathogenic evaluation of synonymous COL4A5 variants in X-linked Alport syndrome using a minigene assayTomoko Horinouchi, Tomohiko Yamamura, Shogo Minamikawa, et al.Pageof 12