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Items: 1 to 20 of 285

1.

Early onset retinal dystrophy due to mutations in LRAT: molecular analysis and detailed phenotypic study.

Dev Borman A, Ocaka LA, Mackay DS, Ripamonti C, Henderson RH, Moradi P, Hall G, Black GC, Robson AG, Holder GE, Webster AR, Fitzke F, Stockman A, Moore AT.

Invest Ophthalmol Vis Sci. 2012 Jun 22;53(7):3927-38. doi: 10.1167/iovs.12-9548.

PMID:
22570351
2.

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
3.

Mutations in RD3 are associated with an extremely rare and severe form of early onset retinal dystrophy.

Preising MN, Hausotter-Will N, Solbach MC, Friedburg C, Rüschendorf F, Lorenz B.

Invest Ophthalmol Vis Sci. 2012 Jun 8;53(7):3463-72. doi: 10.1167/iovs.12-9519.

4.

Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction.

Roosing S, van den Born LI, Hoyng CB, Thiadens AA, de Baere E, Collin RW, Koenekoop RK, Leroy BP, van Moll-Ramirez N, Venselaar H, Riemslag FC, Cremers FP, Klaver CC, den Hollander AI.

Ophthalmology. 2013 Jun;120(6):1239-46. doi: 10.1016/j.ophtha.2012.12.005. Epub 2013 Mar 15.

PMID:
23499059
5.

The phenotype of Severe Early Childhood Onset Retinal Dystrophy (SECORD) from mutation of RPE65 and differentiation from Leber congenital amaurosis.

Weleber RG, Michaelides M, Trzupek KM, Stover NB, Stone EM.

Invest Ophthalmol Vis Sci. 2011 Jan 5;52(1):292-302. doi: 10.1167/iovs.10-6106.

PMID:
20811047
6.

A homozygous frameshift mutation in LRAT causes retinitis punctata albescens.

Littink KW, van Genderen MM, van Schooneveld MJ, Visser L, Riemslag FC, Keunen JE, Bakker B, Zonneveld MN, den Hollander AI, Cremers FP, van den Born LI.

Ophthalmology. 2012 Sep;119(9):1899-906. doi: 10.1016/j.ophtha.2012.02.037. Epub 2012 May 3.

PMID:
22559933
7.

Ophthalmological phenotype associated with homozygous null mutation in the NEUROD1 gene.

Orosz O, Czeglédi M, Kántor I, Balogh I, Vajas A, Takács L, Berta A, Losonczy G.

Mol Vis. 2015 Feb 5;21:124-30. eCollection 2015 Feb 5.

8.

Human retinal disease from AIPL1 gene mutations: foveal cone loss with minimal macular photoreceptors and rod function remaining.

Jacobson SG, Cideciyan AV, Aleman TS, Sumaroka A, Roman AJ, Swider M, Schwartz SB, Banin E, Stone EM.

Invest Ophthalmol Vis Sci. 2011 Jan 5;52(1):70-9. doi: 10.1167/iovs.10-6127.

PMID:
20702822
9.

Early-onset severe rod-cone dystrophy in young children with RPE65 mutations.

Lorenz B, Gyürüs P, Preising M, Bremser D, Gu S, Andrassi M, Gerth C, Gal A.

Invest Ophthalmol Vis Sci. 2000 Aug;41(9):2735-42.

PMID:
10937591
10.

Longitudinal clinical course of three Japanese patients with Leber congenital amaurosis/early-onset retinal dystrophy with RDH12 mutation.

Kuniyoshi K, Sakuramoto H, Yoshitake K, Abe K, Ikeo K, Furuno M, Tsunoda K, Kusaka S, Shimomura Y, Iwata T.

Doc Ophthalmol. 2014 Jun;128(3):219-28. doi: 10.1007/s10633-014-9436-z. Epub 2014 Apr 22.

PMID:
24752437
11.

Novel C8orf37 Mutations in Patients with Early-onset Retinal Dystrophy, Macular Atrophy, Cataracts, and High Myopia.

Katagiri S, Hayashi T, Yoshitake K, Akahori M, Ikeo K, Gekka T, Tsuneoka H, Iwata T.

Ophthalmic Genet. 2016;37(1):68-75. doi: 10.3109/13816810.2014.949380. Epub 2014 Aug 12.

PMID:
25113443
12.

The phenotypic variability of retinal dystrophies associated with mutations in CRX, with report of a novel macular dystrophy phenotype.

Hull S, Arno G, Plagnol V, Chamney S, Russell-Eggitt I, Thompson D, Ramsden SC, Black GC, Robson A, Holder GE, Moore AT, Webster AR.

Invest Ophthalmol Vis Sci. 2014 Sep 30;55(10):6934-44. doi: 10.1167/iovs.14-14715.

PMID:
25270190
13.

RDH12 retinopathy: novel mutations and phenotypic description.

Mackay DS, Dev Borman A, Moradi P, Henderson RH, Li Z, Wright GA, Waseem N, Gandra M, Thompson DA, Bhattacharya SS, Holder GE, Webster AR, Moore AT.

Mol Vis. 2011;17:2706-16. Epub 2011 Oct 19.

14.

De novo mutations in the cone-rod homeobox gene associated with leber congenital amaurosis in Chinese patients.

Zou X, Yao F, Liang X, Xu F, Li H, Sui R, Dong F.

Ophthalmic Genet. 2015 Mar;36(1):21-6. doi: 10.3109/13816810.2013.827219. Epub 2013 Sep 3.

PMID:
24001014
15.

Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations.

Mackay DS, Borman AD, Sui R, van den Born LI, Berson EL, Ocaka LA, Davidson AE, Heckenlively JR, Branham K, Ren H, Lopez I, Maria M, Azam M, Henkes A, Blokland E; LCA5 Study Group., Andreasson S, de Baere E, Bennett J, Chader GJ, Berger W, Golovleva I, Greenberg J, den Hollander AI, Klaver CC, Klevering BJ, Lorenz B, Preising MN, Ramesar R, Roberts L, Roepman R, Rohrschneider K, Wissinger B, Qamar R, Webster AR, Cremers FP, Moore AT, Koenekoop RK.

Hum Mutat. 2013 Nov;34(11):1537-46. doi: 10.1002/humu.22398. Epub 2013 Sep 17. Erratum in: Hum Mutat. 2014 Jan;35(1):149. Ramsear, Raj [corrected to Ramesar, Raj].

16.

Involvement of LCA5 in Leber congenital amaurosis and retinitis pigmentosa in the Spanish population.

Corton M, Avila-Fernandez A, Vallespín E, López-Molina MI, Almoguera B, Martín-Garrido E, Tatu SD, Khan MI, Blanco-Kelly F, Riveiro-Alvarez R, Brión M, García-Sandoval B, Cremers FP, Carracedo A, Ayuso C.

Ophthalmology. 2014 Jan;121(1):399-407. doi: 10.1016/j.ophtha.2013.08.028. Epub 2013 Oct 18.

PMID:
24144451
17.

A detailed study of the phenotype of an autosomal dominant cone-rod dystrophy (CORD7) associated with mutation in the gene for RIM1.

Michaelides M, Holder GE, Hunt DM, Fitzke FW, Bird AC, Moore AT.

Br J Ophthalmol. 2005 Feb;89(2):198-206.

18.

Novel mutations in MERTK associated with childhood onset rod-cone dystrophy.

Mackay DS, Henderson RH, Sergouniotis PI, Li Z, Moradi P, Holder GE, Waseem N, Bhattacharya SS, Aldahmesh MA, Alkuraya FS, Meyer B, Webster AR, Moore AT.

Mol Vis. 2010 Mar 9;16:369-77.

19.

An unusual retinal phenotype associated with a novel mutation in RHO.

Audo I, Friedrich A, Mohand-Saïd S, Lancelot ME, Antonio A, Moskova-Doumanova V, Poch O, Bhattacharya S, Sahel JA, Zeitz C.

Arch Ophthalmol. 2010 Aug;128(8):1036-45. doi: 10.1001/archophthalmol.2010.162.

PMID:
20697005
20.

Fundus albipunctatus associated with compound heterozygous mutations in RPE65.

Schatz P, Preising M, Lorenz B, Sander B, Larsen M, Rosenberg T.

Ophthalmology. 2011 May;118(5):888-94. doi: 10.1016/j.ophtha.2010.09.005. Epub 2011 Jan 6.

PMID:
21211845

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