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Author

Shogo Minamikawa

Observed name: Minamikawa, S.
ORCID: 0000-0001-9652-6266
Observed ORCID: 0000-0001-9652-6266
OpenAlex ID: A5001067376
A review of clinical characteristics and genetic backgrounds in Alport syndrome
2018 · Kandai Nozu, Koichi Nakanishi, et al. · Clinical and Experimental Nephrology · 245
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Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome
2016 · Naohiro Kamiyoshi, Kandai Nozu, et al. · Clinical Journal of the American Society of Nephrology · 142
Development of an exon skipping therapy for X-linked Alport syndrome with truncating variants in COL4A5
2020 · Tomohiko Yamamura, Tomoko Horinouchi, et al. · Nature Communications · 99
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Natural History and Genotype–Phenotype Correlation in Female X-Linked Alport Syndrome
2017 · Tomohiko Yamamura, Kandai Nozu, et al. · Kidney International Reports · 97
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Differential diagnosis of Bartter syndrome, Gitelman syndrome, and pseudo–Bartter/Gitelman syndrome based on clinical characteristics
2015 · Natsuki Matsunoshita, Kandai Nozu, et al. · Genetics in Medicine · 86
Clinical and Genetic Characteristics in Patients With Gitelman Syndrome
2018 · Junya Fujimura, Kandai Nozu, et al. · Kidney International Reports · 76
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Common risk variants in NPHS1 and TNFSF15 are associated with childhood steroid-sensitive nephrotic syndrome
2020 · Xiaoyuan Jia, Tomohiko Yamamura, et al. · Kidney International · 74
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Detection of Splicing Abnormalities and Genotype-Phenotype Correlation in X-linked Alport Syndrome
2018 · Tomoko Horinouchi, Kandai Nozu, et al. · Journal of the American Society of Nephrology · 70
Clinical characteristics of HNF1B-related disorders in a Japanese population
2019 · China Nagano, Naoya Morisada, et al. · Clinical and Experimental Nephrology · 53
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Comparison between conventional and comprehensive sequencing approaches for genetic diagnosis of Alport syndrome
2019 · Tomohiko Yamamura, Kandai Nozu, et al. · Molecular Genetics & Genomic Medicine · 38
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Improving survival in patients with trisomy 18
2021 · Shoko Tamaki, Sota Iwatani, et al. · American Journal of Medical Genetics Part A · 34
Clinical and genetic variability of PAX2-related disorder in the Japanese population
2020 · Rini Rossanti, Naoya Morisada, et al. · Journal of Human Genetics · 32
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Characterization of contiguous gene deletions in COL4A6 and COL4A5 in Alport syndrome-diffuse leiomyomatosis
2017 · Kandai Nozu, Shogo Minamikawa, et al. · Journal of Human Genetics · 31
Detection of copy number variations by pair analysis using next-generation sequencing data in inherited kidney diseases
2018 · China Nagano, Kandai Nozu, et al. · Clinical and Experimental Nephrology · 28
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Determination of the pathogenicity of known COL4A5 intronic variants by in vitro splicing assay
2019 · Tomoko Horinouchi, Kandai Nozu, et al. · Scientific Reports · 26
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Molecular assay for an intronic variant in NUP93 that causes steroid resistant nephrotic syndrome
2019 · Rini Rossanti, Akemi Shono, et al. · Journal of Human Genetics · 25
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Congenital chloride diarrhea needs to be distinguished from Bartter and Gitelman syndrome
2018 · Natsuki Matsunoshita, Kandai Nozu, et al. · Journal of Human Genetics · 24
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International cohort of 382 children with lupus nephritis – presentation, treatment and outcome at 24 months
2023 · Chiara De Mutiis, Scott E. Wenderfer, et al. · Pediatric Nephrology · 22
Comparison of clinical and genetic characteristics between Dent disease 1 and Dent disease 2
2020 · Nana Sakakibara, China Nagano, et al. · Pediatric Nephrology · 21
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Pathogenic evaluation of synonymous COL4A5 variants in X‐linked Alport syndrome using a minigene assay
2020 · Tomoko Horinouchi, Tomohiko Yamamura, et al. · Molecular Genetics & Genomic Medicine · 21
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Female X-linked Alport syndrome with somatic mosaicism
2016 · Kana Yokota, Kandai Nozu, et al. · Clinical and Experimental Nephrology · 21
The utility of urinary CD80 as a diagnostic marker in patients with renal diseases
2018 · Shogo Minamikawa, Kandai Nozu, et al. · Scientific Reports · 20
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Clinical spectrum of male patients with OFD1 mutations
2018 · Nana Sakakibara, Naoya Morisada, et al. · Journal of Human Genetics · 17
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A comparison of splicing assays to detect an intronic variant of the OCRL gene in Lowe syndrome
2017 · Keita Nakanishi, Kandai Nozu, et al. · European Journal of Medical Genetics · 17
Identification of novel OCRL isoforms associated with phenotypic differences between Dent disease-2 and Lowe syndrome
2021 · Nana Sakakibara, Takeshi Ijuin, et al. · Nephrology Dialysis Transplantation · 16
Works count: 65
Citation count: 1,561
H-index: 21
I10-index: 37
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