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Items: 1 to 20 of 441

1.

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
2.

Novel ADAM9 homozygous mutation in a consanguineous Egyptian family with severe cone-rod dystrophy and cataract.

El-Haig WM, Jakobsson C, Favez T, Schorderet DF, Abouzeid H.

Br J Ophthalmol. 2014 Dec;98(12):1718-23. doi: 10.1136/bjophthalmol-2014-305231. Epub 2014 Aug 4.

PMID:
25091951
3.

A novel splice site mutation of CDHR1 in a consanguineous Israeli Christian Arab family segregating autosomal recessive cone-rod dystrophy.

Cohen B, Chervinsky E, Jabaly-Habib H, Shalev SA, Briscoe D, Ben-Yosef T.

Mol Vis. 2012;18:2915-21. Epub 2012 Dec 1.

4.

Autosomal Dominant Retinal Dystrophy With Electronegative Waveform Associated With a Novel RAX2 Mutation.

Yang P, Chiang PW, Weleber RG, Pennesi ME.

JAMA Ophthalmol. 2015 Jun;133(6):653-61. doi: 10.1001/jamaophthalmol.2015.0357.

PMID:
25789692
5.

Coexistence of KCNV2 associated cone dystrophy with supernormal rod electroretinogram and MFRP related oculopathy in a Turkish family.

Ritter M, Vodopiutz J, Lechner S, Moser E, Schmidt-Erfurth UM, Janecke AR.

Br J Ophthalmol. 2013 Feb;97(2):169-73. doi: 10.1136/bjophthalmol-2012-302355. Epub 2012 Nov 10.

PMID:
23143909
6.

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
7.

Next-generation sequencing revealed a novel mutation in the gene encoding the beta subunit of rod phosphodiesterase.

Shen S, Sujirakul T, Tsang SH.

Ophthalmic Genet. 2014 Sep;35(3):142-50. doi: 10.3109/13816810.2014.915328. Epub 2014 May 14.

8.

Homozygous mutation in MERTK causes severe autosomal recessive retinitis pigmentosa.

Ksantini M, Lafont E, Bocquet B, Meunier I, Hamel CP.

Eur J Ophthalmol. 2012 Jul-Aug;22(4):647-53. doi: 10.5301/ejo.5000096.

9.

A novel homozygous R764H mutation in crumbs homolog 1 causes autosomal recessive retinitis pigmentosa.

Tiab L, Largueche L, Chouchane I, Derouiche K, Munier FL, El Matri L, Schorderet DF.

Mol Vis. 2013 Apr 5;19:829-34. Print 2013.

10.

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.

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.

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
13.

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
14.

BESTROPHINOPATHY: A Spectrum of Ocular Abnormalities Caused by the c.614T>C Mutation in the BEST1 Gene.

Toto L, Boon CJ, Di Antonio L, Battaglia Parodi M, Mastropasqua R, Antonucci I, Stuppia L, Mastropasqua L.

Retina. 2016 Aug;36(8):1586-95. doi: 10.1097/IAE.0000000000000950.

PMID:
26716959
15.

Electrophysiologic and phenotypic features of an autosomal cone-rod dystrophy caused by a novel CRX mutation.

Lines MA, Hébert M, McTaggart KE, Flynn SJ, Tennant MT, MacDonald IM.

Ophthalmology. 2002 Oct;109(10):1862-70.

PMID:
12359607
16.

Autosomal dominant occult macular dystrophy with an RP1L1 mutation (R45W).

Hayashi T, Gekka T, Kozaki K, Ohkuma Y, Tanaka I, Yamada H, Tsuneoka H.

Optom Vis Sci. 2012 May;89(5):684-91. doi: 10.1097/OPX.0b013e31824eea32.

PMID:
22504327
17.

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
18.

Clinical characteristics of rod and cone photoreceptor dystrophies in patients with mutations in the C8orf37 gene.

van Huet RA, Estrada-Cuzcano A, Banin E, Rotenstreich Y, Hipp S, Kohl S, Hoyng CB, den Hollander AI, Collin RW, Klevering BJ.

Invest Ophthalmol Vis Sci. 2013 Jul 12;54(7):4683-90. doi: 10.1167/iovs.12-11439.

PMID:
23788369
20.

Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome.

Scheidecker S, Hull S, Perdomo Y, Studer F, Pelletier V, Muller J, Stoetzel C, Schaefer E, Defoort-Dhellemmes S, Drumare I, Holder GE, Hamel CP, Webster AR, Moore AT, Puech B, Dollfus HJ.

Am J Ophthalmol. 2015 Aug;160(2):364-372.e1. doi: 10.1016/j.ajo.2015.05.007. Epub 2015 May 15.

PMID:
25982971

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