| 1 | EYS, NEK2, RP25, RP67
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| Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene.
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| 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.
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| Proc Natl Acad Sci U S A 110(40):16139-44. doi: 10.1073/pnas.1308243110. Epub 2013 Sep 16.
2013
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| 2 | EYS, RP25
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| EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa.
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| Abd El-Aziz MM, Barragan I, O'Driscoll CA, Goodstadt L, Prigmore E, Borrego S, Mena M, Pieras JI, El-Ashry MF, Safieh LA, Shah A, Cheetham ME, Carter NP, Chakarova C, Ponting CP, Bhattacharya SS, Antinolo G.
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| Nat Genet 40(11):1285-7. Epub 2008 Oct 5. 2008
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| 3 | EYS, RP25
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| Identification of a 2 Mb Human Ortholog of Drosophila eyes shut/spacemaker that Is Mutated in Patients with Retinitis Pigmentosa.
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| Collin RW, Littink KW, Klevering BJ, van den Born LI, Koenekoop RK, Zonneveld MN, Blokland EA, Strom TM, Hoyng CB, den Hollander AI, Cremers FP.
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| Am J Hum Genet m J Hum Genet. 2008 Oct 29. [Epub ahead of print] 2008
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| 4 | EYS, RP25
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| Photoreceptors in evolution and disease.
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| Cook B, Zelhof AC.
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| Nat Genet 40(11):1275-6. No abstract available.
2008
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| 5 | RP25
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| Refinement of the locus for autosomal recessive Retinitis pigmentosa (RP25) linked to chromosome 6q in a family of Pakistani origin.
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| Khaliq S, et al.
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| Am J Hum Genet 65(2):571-4. No abstract available 1999
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| 6 | RP25
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| A major locus for autosomal recessive retinitis pigmentosa on 6q, determined by homozygosity mapping of chromosomal regions that contain gamma-aminobutyric acid-receptor clusters.
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| Ruiz A, et al.
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| Am J Hum Genet 62 : 1452-1459. 1998
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