730 related articles for article (PubMed ID: 23767994)
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. PubMed ID: 23767994
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 25091951
[TBL] [Abstract][Full Text] [Related]
3. 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. PubMed ID: 23143909
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 25789692
[TBL] [Abstract][Full Text] [Related]
5. 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. PubMed ID: 25113443
[TBL] [Abstract][Full Text] [Related]
6. Novel recessive cone-rod dystrophy caused by POC1B mutation.
Durlu YK; Köroğlu Ç; Tolun A
JAMA Ophthalmol; 2014 Oct; 132(10):1185-91. PubMed ID: 24945461
[TBL] [Abstract][Full Text] [Related]
7. 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. PubMed ID: 23499059
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 22504327
[TBL] [Abstract][Full Text] [Related]
9. 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. PubMed ID: 24547929
[TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 26716959
[TBL] [Abstract][Full Text] [Related]
11. 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; 54(7):4683-90. PubMed ID: 23788369
[TBL] [Abstract][Full Text] [Related]
12. 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. PubMed ID: 23233793
[TBL] [Abstract][Full Text] [Related]
13. 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. PubMed ID: 25982971
[TBL] [Abstract][Full Text] [Related]
14. Lack of Interphotoreceptor Retinoid Binding Protein Caused by Homozygous Mutation of RBP3 Is Associated With High Myopia and Retinal Dystrophy.
Arno G; Hull S; Robson AG; Holder GE; Cheetham ME; Webster AR; Plagnol V; Moore AT
Invest Ophthalmol Vis Sci; 2015 Apr; 56(4):2358-65. PubMed ID: 25766589
[TBL] [Abstract][Full Text] [Related]
15. Phenotype associated with mutation in the recently identified autosomal dominant retinitis pigmentosa KLHL7 gene.
Hugosson T; Friedman JS; Ponjavic V; Abrahamson M; Swaroop A; Andréasson S
Arch Ophthalmol; 2010 Jun; 128(6):772-8. PubMed ID: 20547956
[TBL] [Abstract][Full Text] [Related]
16. A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation.
Ayala-Ramirez R; Graue-Wiechers F; Robredo V; Amato-Almanza M; Horta-Diez I; Zenteno JC
Mol Vis; 2006 Dec; 12():1483-9. PubMed ID: 17167404
[TBL] [Abstract][Full Text] [Related]
17. Genotypic and Phenotypic Characteristics of CRB1-Associated Retinal Dystrophies: A Long-Term Follow-up Study.
Talib M; van Schooneveld MJ; van Genderen MM; Wijnholds J; Florijn RJ; Ten Brink JB; Schalij-Delfos NE; Dagnelie G; Cremers FPM; Wolterbeek R; Fiocco M; Thiadens AA; Hoyng CB; Klaver CC; Bergen AA; Boon CJF
Ophthalmology; 2017 Jun; 124(6):884-895. PubMed ID: 28341475
[TBL] [Abstract][Full Text] [Related]
18. 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. PubMed ID: 15665353
[TBL] [Abstract][Full Text] [Related]
19. Homozygous mutation in MERTK causes severe autosomal recessive retinitis pigmentosa.
Ksantini M; Lafont E; Bocquet B; Meunier I; Hamel CP
Eur J Ophthalmol; 2012; 22(4):647-53. PubMed ID: 22180149
[TBL] [Abstract][Full Text] [Related]
20. Mutations in CRB1 are a relatively common cause of autosomal recessive early-onset retinal degeneration in the Israeli and Palestinian populations.
Beryozkin A; Zelinger L; Bandah-Rozenfeld D; Harel A; Strom TA; Merin S; Chowers I; Banin E; Sharon D
Invest Ophthalmol Vis Sci; 2013 Mar; 54(3):2068-75. PubMed ID: 23449718
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]