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Author/Creator Rossanti, Rini

1. Clear Evidence of LAMA5 Gene Biallelic Truncating Variants Causing Infantile Nephrotic Syndrome. Issue 12 (30th December 2021)

Authors:
Taniguchi, Yukimasa; Nagano, China; Sekiguchi, Kiyotoshi; Tashiro, Atsushi; Sugawara, Noriko; Sakaguchi, Haruhide; Umeda, Chisato; Aoto, Yuya; Ishiko, Shinya; Rossanti, Rini; Sakakibara, Nana; Horinouchi, Tomoko; Yamamura, Tomohiko; Kondo, Atsushi; Nagai, Sadayuki; Nagase, Hiroaki; Iijima, Kazumo...
Journal:
Kidney360
Issue:
Volume 2:Issue 12(2021)
Page Start:
1968
Record Type:
Journal Article
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2. Clinical, Pathological, and Genetic Characteristics in Patients with Focal Segmental Glomerulosclerosis. Issue 8 (25th August 2022)

Authors:
Nagano, China; Hara, Shigeo; Yoshikawa, Norishige; Takeda, Asami; Gotoh, Yoshimitsu; Hamada, Riku; Matsuoka, Kentaro; Yamamoto, Masaki; Fujinaga, Shuichiro; Sakuraya, Koji; Kamei, Koichi; Hamasaki, Yuko; Oguchi, Hideyo; Araki, Yoshinori; Ogawa, Yayoi; Okamoto, Takayuki; Ito, Shuichi; Tanaka, Seij...
Journal:
Kidney360
Issue:
Volume 3:Issue 8(2022)
Page Start:
1384
Record Type:
Journal Article
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3. Comparison between conventional and comprehensive sequencing approaches for genetic diagnosis of Alport syndrome. Issue 9 (30th July 2019)

Authors:
Yamamura, Tomohiko; Nozu, Kandai; Minamikawa, Shogo; Horinouchi, Tomoko; Sakakibara, Nana; Nagano, China; Aoto, Yuya; Ishiko, Shinya; Nakanishi, Koichi; Shima, Yuko; Nagase, Hiroaki; Rossanti, Rini; Ye, Ming J.; Nozu, Yoshimi; Ishimori, Shingo; Morisada, Naoya; Kaito, Hiroshi; Iijima, Kazumoto
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 7:Issue 9(2019)
Page Start:
n/a
Record Type:
Journal Article
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4. Detecting pathogenic deep intronic variants in Gitelman syndrome. Issue 9 (3rd July 2022)

Authors:
Rossanti, Rini; Horinouchi, Tomoko; Sakakibara, Nana; Yamamura, Tomohiko; Nagano, China; Ishiko, Shinya; Aoto, Yuya; Kondo, Atsushi; Nagai, Sadayuki; Awano, Hiroyuki; Nagase, Hiroaki; Matsuo, Masafumi; Iijima, Kazumoto; Nozu, Kandai
Journal:
American journal of medical genetics
Issue:
Volume 188:Issue 9(2022)
Page Start:
2576
Record Type:
Journal Article
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5. Evaluation of Suspected Autosomal Alport Syndrome Synonymous Variants. Issue 3 (31st March 2022)

Authors:
Rossanti, Rini; Horinouchi, Tomoko; Yamamura, Tomohiko; Nagano, China; Sakakibara, Nana; Ishiko, Shinya; Aoto, Yuya; Kondo, Atsushi; Nagai, Sadayuki; Okada, Eri; Ishimori, Shingo; Nagase, Hiroaki; Matsui, Satoshi; Tamagaki, Keiichi; Ubara, Yoshifumi; Nagahama, Masahiko; Shima, Yuko; Nakanishi, Ko...
Journal:
Kidney360
Issue:
Volume 3:Issue 3(2022)
Page Start:
497
Record Type:
Journal Article
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6. Identification of novel OCRL isoforms associated with phenotypic differences between Dent disease-2 and Lowe syndrome. Issue 2 (29th September 2021)

Authors:
Sakakibara, Nana; Ijuin, Takeshi; Horinouchi, Tomoko; Yamamura, Tomohiko; Nagano, China; Okada, Eri; Ishiko, Shinya; Aoto, Yuya; Rossanti, Rini; Ninchoji, Takeshi; Awano, Hiroyuki; Nagase, Hiroaki; Minamikawa, Shogo; Tanaka, Ryojiro; Matsuyama, Takeshi; Nagatani, Koji; Kamei, Koichi; Jinnouchi, K...
Journal:
Nephrology dialysis transplantation
Issue:
Volume 37:Issue 2(2022)
Page Start:
262
Record Type:
Journal Article
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7. Pathogenic evaluation of synonymous COL4A5 variants in X‐linked Alport syndrome using a minigene assay. Issue 8 (16th June 2020)

Authors:
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:
Molecular genetics & genomic medicine
Issue:
Volume 8:Issue 8(2020)
Page Start:
n/a
Record Type:
Journal Article
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