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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1962 4
1964 2
1965 2
1971 1
1980 1
1990 2
1991 2
1992 3
1993 1
1995 4
1996 6
1997 5
1998 5
1999 3
2000 2
2001 6
2002 4
2003 1
2004 1
2005 2
2006 1
2008 2
2009 3
2010 5
2011 4
2012 1
2013 1
2015 3
2016 2
2017 1
2018 3
2019 4
2020 19
2021 22
2022 13
2023 6
2024 1

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142 results

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Page 1
Clinical, Pathological, and Genetic Characteristics in Patients with Focal Segmental Glomerulosclerosis.
Nagano C, Hara S, Yoshikawa N, Takeda A, Gotoh Y, Hamada R, Matsuoka K, Yamamoto M, Fujinaga S, Sakuraya K, Kamei K, Hamasaki Y, Oguchi H, Araki Y, Ogawa Y, Okamoto T, Ito S, Tanaka S, Kaito H, Aoto Y, Ishiko S, Rossanti R, Sakakibara N, Horinouchi T, Yamamura T, Nagase H, Iijima K, Nozu K. Nagano C, et al. Among authors: ishiko s. Kidney360. 2022 May 24;3(8):1384-1393. doi: 10.34067/KID.0000812022. eCollection 2022 Aug 25. Kidney360. 2022. PMID: 36176665 Free PMC article.
Association of Rare CYP39A1 Variants With Exfoliation Syndrome Involving the Anterior Chamber of the Eye.
Genetics of Exfoliation Syndrome Partnership; Li Z, Wang Z, Lee MC, Zenkel M, Peh E, Ozaki M, Topouzis F, Nakano S, Chan A, Chen S, Williams SEI, Orr A, Nakano M, Kobakhidze N, Zarnowski T, Popa-Cherecheanu A, Mizoguchi T, Manabe SI, Hayashi K, Kazama S, Inoue K, Mori Y, Miyata K, Sugiyama K, Higashide T, Chihara E, Ideta R, Ishiko S, Yoshida A, Tokumo K, Kiuchi Y, Ohashi T, Sakurai T, Sugimoto T, Chuman H, Aihara M, Inatani M, Mori K, Ikeda Y, Ueno M, Gaston D, Rafuse P, Shuba L, Saunders J, Nicolela M, Chichua G, Tabagari S, Founti P, Sim KS, Meah WY, Soo HM, Chen XY, Chatzikyriakidou A, Keskini C, Pappas T, Anastasopoulos E, Lambropoulos A, Panagiotou ES, Mikropoulos DG, Kosior-Jarecka E, Cheong A, Li Y, Lukasik U, Nongpiur ME, Husain R, Perera SA, Álvarez L, García M, González-Iglesias H, Fernández-Vega Cueto A, Fernández-Vega Cueto L, Martinón-Torres F, Salas A, Oguz Ç, Tamcelik N, Atalay E, Batu B, Irkec M, Aktas D, Kasim B, Astakhov YS, Astakhov SY, Akopov EL, Giessl A, Mardin C, Hellerbrand C, Cooke Bailey JN, Igo RP Jr, Haines JL, Edward DP, Heegaard S, Davila S, Tan P, Kang JH, Pasquale LR, Kruse FE, Reis A, Carmichael TR, Hauser M, Ramsay M, Mossböck G, Yildirim … See abstract for full author list ➔ Genetics of Exfoliation Syndrome Partnership, et al. Among authors: ishiko s. JAMA. 2021 Feb 23;325(8):753-764. doi: 10.1001/jama.2021.0507. JAMA. 2021. PMID: 33620406 Free PMC article.
Development of an exon skipping therapy for X-linked Alport syndrome with truncating variants in COL4A5.
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 A, Shono A, Minamikawa S, Nagano C, Sakakibara N, Ishiko S, Aoto Y, Kamura M, Harita Y, Miura K, Kanda S, Morisada N, Rossanti R, Ye MJ, Nozu Y, Matsuo M, Kai H, Iijima K, Nozu K. Yamamura T, et al. Among authors: ishiko s. Nat Commun. 2020 Jun 2;11(1):2777. doi: 10.1038/s41467-020-16605-x. Nat Commun. 2020. PMID: 32488001 Free PMC article.
Variations of Weiss's ring.
Akiba J, Ishiko S, Yoshida A. Akiba J, et al. Among authors: ishiko s. Retina. 2001;21(3):243-6. doi: 10.1097/00006982-200106000-00008. Retina. 2001. PMID: 11421014
All reported non-canonical splice site variants in GLA cause aberrant splicing.
Okada E, Horinouchi T, Yamamura T, Aoto Y, Suzuki R, Ichikawa Y, Tanaka Y, Masuda C, Kitakado H, Kondo A, Sakakibara N, Ishiko S, Nagano C, Ishimori S, Usui J, Yamagata K, Matsuo M, Nozu K. Okada E, et al. Among authors: ishiko s. Clin Exp Nephrol. 2023 Sep;27(9):737-746. doi: 10.1007/s10157-023-02361-x. Epub 2023 May 31. Clin Exp Nephrol. 2023. PMID: 37254000 Free PMC article.
NOTCH2NLC mutation-positive neuronal intranuclear inclusion disease with retinal dystrophy: A case report and literature review.
Katayama T, Takahashi K, Yahara O, Sawada J, Ishida KI, Asanome A, Endo H, Saito T, Hasebe N, Kishibe M, Kanno H, Ishiko S, Sone J. Katayama T, et al. Among authors: ishiko s. Medicine (Baltimore). 2023 May 12;102(19):e33789. doi: 10.1097/MD.0000000000033789. Medicine (Baltimore). 2023. PMID: 37171294 Free PMC article. Review.
Detecting pathogenic deep intronic variants in Gitelman syndrome.
Rossanti R, Horinouchi T, Sakakibara N, Yamamura T, Nagano C, Ishiko S, Aoto Y, Kondo A, Nagai S, Awano H, Nagase H, Matsuo M, Iijima K, Nozu K. Rossanti R, et al. Among authors: ishiko s. Am J Med Genet A. 2022 Sep;188(9):2576-2583. doi: 10.1002/ajmg.a.62885. Epub 2022 Jul 3. Am J Med Genet A. 2022. PMID: 35785516
Evaluation of Suspected Autosomal Alport Syndrome Synonymous Variants.
Rossanti R, Horinouchi T, Yamamura T, Nagano C, Sakakibara N, Ishiko S, Aoto Y, Kondo A, Nagai S, Okada E, Ishimori S, Nagase H, Matsui S, Tamagaki K, Ubara Y, Nagahama M, Shima Y, Nakanishi K, Ninchoji T, Matsuo M, Iijima K, Nozu K. Rossanti R, et al. Among authors: ishiko s. Kidney360. 2021 Oct 13;3(3):497-505. doi: 10.34067/KID.0005252021. eCollection 2022 Mar 31. Kidney360. 2021. PMID: 35582193 Free PMC article.
142 results