Nishiguchi KM - Search Results

1

Recessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function.

Nishiguchi KM, Friedman JS, Sandberg MA, Swaroop A, Berson EL, Dryja TP. Nishiguchi KM, et al. Proc Natl Acad Sci U S A. 2004 Dec 21;101(51):17819-24. doi: 10.1073/pnas.0408183101. Epub 2004 Dec 9. Proc Natl Acad Sci U S A. 2004. PMID: 15591106 Free PMC article.

2

Defects in RGS9 or its anchor protein R9AP in patients with slow photoreceptor deactivation.

Nishiguchi KM, Sandberg MA, Kooijman AC, Martemyanov KA, Pott JW, Hagstrom SA, Arshavsky VY, Berson EL, Dryja TP. Nishiguchi KM, et al. Nature. 2004 Jan 1;427(6969):75-8. doi: 10.1038/nature02170. Nature. 2004. PMID: 14702087

3

Novel mutations in the cellular retinaldehyde-binding protein gene (RLBP1) associated with retinitis punctata albescens: evidence of interfamilial genetic heterogeneity and fundus changes in heterozygotes.

Fishman GA, Roberts MF, Derlacki DJ, Grimsby JL, Yamamoto H, Sharon D, Nishiguchi KM, Dryja TP. Fishman GA, et al. Among authors: nishiguchi km. Arch Ophthalmol. 2004 Jan;122(1):70-5. doi: 10.1001/archopht.122.1.70. Arch Ophthalmol. 2004. PMID: 14718298

4

Mutation screening of the phosducin gene PDC in patients with retinitis pigmentosa and allied diseases.

Nishiguchi KM, Berson EL, Dryja TP. Nishiguchi KM, et al. Mol Vis. 2004 Jan 26;10:62-4. Mol Vis. 2004. PMID: 14758335 Free article.

5

A novel mutation (I143NT) in guanylate cyclase-activating protein 1 (GCAP1) associated with autosomal dominant cone degeneration.

Nishiguchi KM, Sokal I, Yang L, Roychowdhury N, Palczewski K, Berson EL, Dryja TP, Baehr W. Nishiguchi KM, et al. Invest Ophthalmol Vis Sci. 2004 Nov;45(11):3863-70. doi: 10.1167/iovs.04-0590. Invest Ophthalmol Vis Sci. 2004. PMID: 15505030 Free PMC article.

6

Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases.

Nishiguchi KM, Sandberg MA, Gorji N, Berson EL, Dryja TP. Nishiguchi KM, et al. Hum Mutat. 2005 Mar;25(3):248-58. doi: 10.1002/humu.20142. Hum Mutat. 2005. PMID: 15712225

7

Recessive mutations in the CYP4V2 gene in East Asian and Middle Eastern patients with Bietti crystalline corneoretinal dystrophy.

Lin J, Nishiguchi KM, Nakamura M, Dryja TP, Berson EL, Miyake Y. Lin J, et al. Among authors: nishiguchi km. J Med Genet. 2005 Jun;42(6):e38. doi: 10.1136/jmg.2004.029066. J Med Genet. 2005. PMID: 15937078 Free PMC article.

8

Retinopathy mutations in the bZIP protein NRL alter phosphorylation and transcriptional activity.

Kanda A, Friedman JS, Nishiguchi KM, Swaroop A. Kanda A, et al. Among authors: nishiguchi km. Hum Mutat. 2007 Jun;28(6):589-98. doi: 10.1002/humu.20488. Hum Mutat. 2007. PMID: 17335001 Free article.

9

Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene.

Nishiguchi KM, Tearle RG, Liu YP, Oh EC, Miyake N, Benaglio P, Harper S, Koskiniemi-Kuendig H, Venturini G, Sharon D, Koenekoop RK, Nakamura M, Kondo M, Ueno S, Yasuma TR, Beckmann JS, Ikegawa S, Matsumoto N, Terasaki H, Berson EL, Katsanis N, Rivolta C. Nishiguchi KM, et al. Proc Natl Acad Sci U S A. 2013 Oct 1;110(40):16139-44. doi: 10.1073/pnas.1308243110. Epub 2013 Sep 16. Proc Natl Acad Sci U S A. 2013. PMID: 24043777 Free PMC article.

10

Macular Dystrophy and Cone-Rod Dystrophy Caused by Mutations in the RP1 Gene: Extending the RP1 Disease Spectrum.

Verbakel SK, van Huet RAC, den Hollander AI, Geerlings MJ, Kersten E, Klevering BJ, Klaver CCW, Plomp AS, Wesseling NL, Bergen AAB, Nikopoulos K, Rivolta C, Ikeda Y, Sonoda KH, Wada Y, Boon CJF, Nakazawa T, Hoyng CB, Nishiguchi KM. Verbakel SK, et al. Among authors: nishiguchi km. Invest Ophthalmol Vis Sci. 2019 Mar 1;60(4):1192-1203. doi: 10.1167/iovs.18-26084. Invest Ophthalmol Vis Sci. 2019. PMID: 30913292

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