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Items: 1 to 20 of 68

1.

Analysis of candidate genes for macular telangiectasia type 2.

Parmalee NL, Schubert C, Merriam JE, Allikmets K, Bird AC, Gillies MC, Peto T, Figueroa M, Friedlander M, Fruttiger M, Greenwood J, Moss SE, Smith LE, Toomes C, Inglehearn CF, Allikmets R.

Mol Vis. 2010 Dec 14;16:2718-26.

2.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

Dan Med Bull. 2009 Aug;56(3):105-52.

PMID:
19728970
3.

Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy.

Nikopoulos K, Gilissen C, Hoischen A, van Nouhuys CE, Boonstra FN, Blokland EA, Arts P, Wieskamp N, Strom TM, Ayuso C, Tilanus MA, Bouwhuis S, Mukhopadhyay A, Scheffer H, Hoefsloot LH, Veltman JA, Cremers FP, Collin RW.

Am J Hum Genet. 2010 Feb 12;86(2):240-7. doi: 10.1016/j.ajhg.2009.12.016.

4.

Genomic structure and organization of the high grade Myopia-2 locus (MYP2) critical region: mutation screening of 9 positional candidate genes.

Scavello GS Jr, Paluru PC, Zhou J, White PS, Rappaport EF, Young TL.

Mol Vis. 2005 Feb 2;11:97-110.

5.

Missense mutations at homologous positions in the fourth and fifth laminin A G-like domains of eyes shut homolog cause autosomal recessive retinitis pigmentosa.

Khan MI, Collin RW, Arimadyo K, Micheal S, Azam M, Qureshi N, Faradz SM, den Hollander AI, Qamar R, Cremers FP.

Mol Vis. 2010 Dec 15;16:2753-9.

6.

Molecular genetic analysis of two functional candidate genes in the autosomal recessive retinitis pigmentosa, RP25, locus.

Abd El-Aziz MM, El-Ashry MF, Barragan I, Marcos I, Borrego S, Antiñolo G, Bhattacharya SS.

Curr Eye Res. 2005 Dec;30(12):1081-7.

PMID:
16354621
7.

Macular pigment parameters in patients with macular telangiectasia (MacTel) and normal subjects: implications of a novel analysis.

Degli Esposti S, Egan C, Bunce C, Moreland JD, Bird AC, Robson AG.

Invest Ophthalmol Vis Sci. 2012 Sep 25;53(10):6568-75.

PMID:
22899764
8.

Pseudo-vitelliform macular detachment and cuticular drusen: exclusion of 6 candidate genes.

Barbazetto IA, Yannuzzi NA, Klais CM, Merriam JE, Zernant J, Peiretti E, Yannuzzi LA, Allikmets R.

Ophthalmic Genet. 2007 Dec;28(4):192-7.

PMID:
18161617
9.

Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract.

Hansen L, Mikkelsen A, Nürnberg P, Nürnberg G, Anjum I, Eiberg H, Rosenberg T.

Invest Ophthalmol Vis Sci. 2009 Jul;50(7):3291-303. doi: 10.1167/iovs.08-3149. Epub 2009 Jan 31. Erratum in: Invest Ophthalmol Vis Sci. 2012;53(10):6667.

PMID:
19182255
10.

Quantification of reduced macular pigment optical density in the central retina in macular telangiectasia type 2.

Charbel Issa P, van der Veen RL, Stijfs A, Holz FG, Scholl HP, Berendschot TT.

Exp Eye Res. 2009 Jun 15;89(1):25-31. doi: 10.1016/j.exer.2009.02.006. Epub 2009 Feb 21.

PMID:
19233170
11.

Mutation analysis and characterization of ATR sequence variants in breast cancer cases from high-risk French Canadian breast/ovarian cancer families.

Durocher F, Labrie Y, Soucy P, Sinilnikova O, Labuda D, Bessette P, Chiquette J, Laframboise R, Lépine J, Lespérance B, Ouellette G, Pichette R, Plante M, Tavtigian SV, Simard J.

BMC Cancer. 2006 Sep 29;6:230.

12.

Spectrum of candidate gene mutations associated with Indian familial oculocutaneous and ocular albinism.

Renugadevi K, Sil AK, Perumalsamy V, Sundaresan P.

Mol Vis. 2010 Aug 9;16:1514-24.

13.

Targeted sequencing of 179 genes associated with hereditary retinal dystrophies and 10 candidate genes identifies novel and known mutations in patients with various retinal diseases.

Chen X, Zhao K, Sheng X, Li Y, Gao X, Zhang X, Kang X, Pan X, Liu Y, Jiang C, Shi H, Chen X, Rong W, Chen LJ, Lai TY, Liu Y, Wang X, Yuan S, Liu Q, Vollrath D, Pang CP, Zhao C.

Invest Ophthalmol Vis Sci. 2013 Mar 1;54(3):2186-97. doi: 10.1167/iovs.12-10967.

PMID:
23462753
14.

Variable retinal phenotypes caused by mutations in the X-linked photopigment gene array.

Mizrahi-Meissonnier L, Merin S, Banin E, Sharon D.

Invest Ophthalmol Vis Sci. 2010 Aug;51(8):3884-92. doi: 10.1167/iovs.09-4592. Epub 2010 Mar 10.

PMID:
20220053
15.

The prevalence of type 2 idiopathic macular telangiectasia in two African populations.

Sallo FB, Leung I, Mathenge W, Kyari F, Kuper H, Gilbert CE, Bird AC, Peto T; MacTel Study Group.

Ophthalmic Epidemiol. 2012 Aug;19(4):185-9. doi: 10.3109/09286586.2011.638744. Epub 2012 Feb 24.

PMID:
22364548
16.

Autosomal dominant retinitis pigmentosa with intrafamilial variability and incomplete penetrance in two families carrying mutations in PRPF8.

Maubaret CG, Vaclavik V, Mukhopadhyay R, Waseem NH, Churchill A, Holder GE, Moore AT, Bhattacharya SS, Webster AR.

Invest Ophthalmol Vis Sci. 2011 Dec 2;52(13):9304-9. doi: 10.1167/iovs.11-8372.

PMID:
22039234
17.

Autosomal dominant familial exudative vitreoretinopathy in two Japanese families with FZD4 mutations (H69Y and C181R).

Omoto S, Hayashi T, Kitahara K, Takeuchi T, Ueoka Y.

Ophthalmic Genet. 2004 Jun;25(2):81-90.

PMID:
15370539
18.

Screening of SPATA7 in patients with Leber congenital amaurosis and severe childhood-onset retinal dystrophy reveals disease-causing mutations.

Mackay DS, Ocaka LA, Borman AD, Sergouniotis PI, Henderson RH, Moradi P, Robson AG, Thompson DA, Webster AR, Moore AT.

Invest Ophthalmol Vis Sci. 2011 May 9;52(6):3032-8. doi: 10.1167/iovs.10-7025.

PMID:
21310915
19.

No pathogenic mutations identified in the COL8A1 and COL8A2 genes in familial Fuchs corneal dystrophy.

Aldave AJ, Rayner SA, Salem AK, Yoo GL, Kim BT, Saeedian M, Sonmez B, Yellore VS.

Invest Ophthalmol Vis Sci. 2006 Sep;47(9):3787-90.

PMID:
16936088
20.

Anti-retinal antibodies in patients with macular telangiectasia type 2.

Zhu L, Shen W, Zhu M, Coorey NJ, Nguyen AP, Barthelmes D, Gillies MC.

Invest Ophthalmol Vis Sci. 2013 Aug 21;54(8):5675-83. doi: 10.1167/iovs.13-12050.

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