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Items: 8

1.

Whole exome sequencing identifies CRB1 defect in an unusual maculopathy phenotype.

Tsang SH, Burke T, Oll M, Yzer S, Lee W, Xie YA, Allikmets R.

Ophthalmology. 2014 Sep;121(9):1773-82. doi: 10.1016/j.ophtha.2014.03.010. Epub 2014 May 6.

2.

TDT-HET: a new transmission disequilibrium test that incorporates locus heterogeneity into the analysis of family-based association data.

Londono D, Buyske S, Finch SJ, Sharma S, Wise CA, Gordon D.

BMC Bioinformatics. 2012 Jan 20;13:13. doi: 10.1186/1471-2105-13-13.

3.

Mutations in ASCC3L1 on 2q11.2 are associated with autosomal dominant retinitis pigmentosa in a Chinese family.

Li N, Mei H, MacDonald IM, Jiao X, Hejtmancik JF.

Invest Ophthalmol Vis Sci. 2010 Feb;51(2):1036-43. doi: 10.1167/iovs.09-3725. Epub 2009 Aug 26.

4.

Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing.

Neidhardt J, Glaus E, Lorenz B, Netzer C, Li Y, Schambeck M, Wittmer M, Feil S, Kirschner-Schwabe R, Rosenberg T, Cremers FP, Bergen AA, Barthelmes D, Baraki H, Schmid F, Tanner G, Fleischhauer J, Orth U, Becker C, Wegscheider E, Nürnberg G, Nürnberg P, Bolz HJ, Gal A, Berger W.

Mol Vis. 2008 Jun 6;14:1081-93.

5.

Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosa.

Bowne SJ, Sullivan LS, Gire AI, Birch DG, Hughbanks-Wheaton D, Heckenlively JR, Daiger SP.

Mol Vis. 2008 May 19;14:922-7.

6.

Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy.

Chakarova CF, Papaioannou MG, Khanna H, Lopez I, Waseem N, Shah A, Theis T, Friedman J, Maubaret C, Bujakowska K, Veraitch B, Abd El-Aziz MM, Prescott de Q, Parapuram SK, Bickmore WA, Munro PM, Gal A, Hamel CP, Marigo V, Ponting CP, Wissinger B, Zrenner E, Matter K, Swaroop A, Koenekoop RK, Bhattacharya SS.

Am J Hum Genet. 2007 Nov;81(5):1098-103. Epub 2007 Sep 26.

7.

Perspective on genes and mutations causing retinitis pigmentosa.

Daiger SP, Bowne SJ, Sullivan LS.

Arch Ophthalmol. 2007 Feb;125(2):151-8. Review.

8.

Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosa.

Sullivan LS, Bowne SJ, Seaman CR, Blanton SH, Lewis RA, Heckenlively JR, Birch DG, Hughbanks-Wheaton D, Daiger SP.

Invest Ophthalmol Vis Sci. 2006 Oct;47(10):4579-88.

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