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Items: 1 to 20 of 91

1.

Pediatric Cone-Rod Dystrophy with High Myopia and Nystagmus Suggests Recessive PROM1 Mutations.

Khan AO, Bolz HJ.

Ophthalmic Genet. 2015;36(4):349-52. doi: 10.3109/13816810.2014.886266. Epub 2014 Feb 18.

PMID:
24547909
2.

The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy.

Michaelides M, Gaillard MC, Escher P, Tiab L, Bedell M, Borruat FX, Barthelmes D, Carmona R, Zhang K, White E, McClements M, Robson AG, Holder GE, Bradshaw K, Hunt DM, Webster AR, Moore AT, Schorderet DF, Munier FL.

Invest Ophthalmol Vis Sci. 2010 Sep;51(9):4771-80. doi: 10.1167/iovs.09-4561. Epub 2010 Apr 14.

3.

Cone-rod dystrophy and a frameshift mutation in the PROM1 gene.

Pras E, Abu A, Rotenstreich Y, Avni I, Reish O, Morad Y, Reznik-Wolf H, Pras E.

Mol Vis. 2009 Aug 28;15:1709-16.

4.

An intronic deletion in the PROM1 gene leads to autosomal recessive cone-rod dystrophy.

Eidinger O, Leibu R, Newman H, Rizel L, Perlman I, Ben-Yosef T.

Mol Vis. 2015 Dec 8;21:1295-306. eCollection 2015.

5.

Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations.

Littink KW, Koenekoop RK, van den Born LI, Collin RW, Moruz L, Veltman JA, Roosing S, Zonneveld MN, Omar A, Darvish M, Lopez I, Kroes HY, van Genderen MM, Hoyng CB, Rohrschneider K, van Schooneveld MJ, Cremers FP, den Hollander AI.

Invest Ophthalmol Vis Sci. 2010 Nov;51(11):5943-51. doi: 10.1167/iovs.10-5797. Epub 2010 Jun 16.

6.

Autosomal recessive retinitis pigmentosa with early macular affectation caused by premature truncation in PROM1.

Permanyer J, Navarro R, Friedman J, Pomares E, Castro-Navarro J, Marfany G, Swaroop A, Gonzàlez-Duarte R.

Invest Ophthalmol Vis Sci. 2010 May;51(5):2656-63. doi: 10.1167/iovs.09-4857. Epub 2009 Dec 30.

7.

Genetic testing and clinical characterization of patients with cone-rod dystrophy.

Thiadens AA, Klaver CC.

Invest Ophthalmol Vis Sci. 2010 Dec;51(12):6904-5; author reply 6905. doi: 10.1167/iovs.10-6145. No abstract available.

PMID:
21123796
8.

Homozygosity mapping and whole-genome sequencing reveals a deep intronic PROM1 mutation causing cone-rod dystrophy by pseudoexon activation.

Mayer AK, Rohrschneider K, Strom TM, Glöckle N, Kohl S, Wissinger B, Weisschuh N.

Eur J Hum Genet. 2016 Mar;24(3):459-62. doi: 10.1038/ejhg.2015.144. Epub 2015 Jul 8.

9.

Childhood cone-rod dystrophy with macular cystic degeneration from recessive CRB1 mutation.

Khan AO, Aldahmesh MA, Abu-Safieh L, Alkuraya FS.

Ophthalmic Genet. 2014 Sep;35(3):130-7. doi: 10.3109/13816810.2013.804097. Epub 2013 Jun 14.

PMID:
23767994
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.

Severe retinitis pigmentosa mapped to 4p15 and associated with a novel mutation in the PROM1 gene.

Zhang Q, Zulfiqar F, Xiao X, Riazuddin SA, Ahmad Z, Caruso R, MacDonald I, Sieving P, Riazuddin S, Hejtmancik JF.

Hum Genet. 2007 Nov;122(3-4):293-9. Epub 2007 Jun 29.

PMID:
17605048
13.

Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy.

Arrigoni FI, Matarin M, Thompson PJ, Michaelides M, McClements ME, Redmond E, Clarke L, Ellins E, Mohamed S, Pavord I, Klein N, Hunt DM, Moore AT, Halcox J, Sisodiya SM.

Eur J Hum Genet. 2011 Feb;19(2):131-7. doi: 10.1038/ejhg.2010.147. Epub 2010 Sep 22. Erratum in: Eur J Hum Genet. 2011 Sep;19(9):1018. Klein, Nigel [added].

14.

INSIGHTS INTO AUTOSOMAL DOMINANT STARGARDT-LIKE MACULAR DYSTROPHY THROUGH MULTIMODALITY DIAGNOSTIC IMAGING.

Palejwala NV, Gale MJ, Clark RF, Schlechter C, Weleber RG, Pennesi ME.

Retina. 2016 Jan;36(1):119-30. doi: 10.1097/IAE.0000000000000659.

PMID:
26110599
15.

Rod-Cone Dystrophy with Initially Preserved Visual Acuity Despite Early Macular Involvement Suggests Recessive CERKL Mutations.

Khan AO, Abu-Safieh L.

Ophthalmic Genet. 2015;36(4):369-72. doi: 10.3109/13816810.2014.889168. Epub 2014 Feb 19.

PMID:
24547929
16.

Progressive cone-rod dystrophy and high myopia in a Finnish family.

Mäntyjärvi M, Tuppurainen K.

Acta Ophthalmol (Copenh). 1989 Jun;67(3):234-42.

PMID:
2763809
17.

Novel recessive cone-rod dystrophy caused by POC1B mutation.

Durlu YK, Köroğlu Ç, Tolun A.

JAMA Ophthalmol. 2014 Oct;132(10):1185-91. doi: 10.1001/jamaophthalmol.2014.1658.

PMID:
24945461
18.

A TULP1 founder mutation, p.Gln301*, underlies a recognisable congenital rod-cone dystrophy phenotype on the Arabian Peninsula.

Khan AO, Bergmann C, Eisenberger T, Bolz HJ.

Br J Ophthalmol. 2015 Apr;99(4):488-92. doi: 10.1136/bjophthalmol-2014-305836. Epub 2014 Oct 23.

PMID:
25342276
19.

Autosomal recessive cone-rod dystrophy associated with compound heterozygous mutations in the EYS gene.

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

Doc Ophthalmol. 2014 Jun;128(3):211-7. doi: 10.1007/s10633-014-9435-0. Epub 2014 Mar 21.

PMID:
24652164
20.

Cone rod dystrophies.

Hamel CP.

Orphanet J Rare Dis. 2007 Feb 1;2:7. Review.

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