421 related articles for article (PubMed ID: 25091951)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
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. 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; 21():1295-306. PubMed ID: 26702251
[TBL] [Abstract][Full Text] [Related]
8. A novel mutation confirms MFRP as the gene causing the syndrome of nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen.
Crespí J; Buil JA; Bassaganyas F; Vela-Segarra JI; Díaz-Cascajosa J; Ayala-Ramírez R; Zenteno JC
Am J Ophthalmol; 2008 Aug; 146(2):323-328. PubMed ID: 18554571
[TBL] [Abstract][Full Text] [Related]
9. CORD9 a new locus for arCRD: mapping to 8p11, estimation of frequency, evaluation of a candidate gene.
Danciger M; Hendrickson J; Lyon J; Toomes C; McHale JC; Fishman GA; Inglehearn CF; Jacobson SG; Farber DB
Invest Ophthalmol Vis Sci; 2001 Oct; 42(11):2458-65. PubMed ID: 11581183
[TBL] [Abstract][Full Text] [Related]
10. Splice-site mutations identified in PDE6A responsible for retinitis pigmentosa in consanguineous Pakistani families.
Khan SY; Ali S; Naeem MA; Khan SN; Husnain T; Butt NH; Qazi ZA; Akram J; Riazuddin S; Ayyagari R; Hejtmancik JF; Riazuddin SA
Mol Vis; 2015; 21():871-82. PubMed ID: 26321862
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. A distinct vitreo-retinal dystrophy with early-onset cataract from recessive KCNJ13 mutations.
Khan AO; Bergmann C; Neuhaus C; Bolz HJ
Ophthalmic Genet; 2015 Mar; 36(1):79-84. PubMed ID: 25475713
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. 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]
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; 52(13):9304-9. PubMed ID: 22039234
[TBL] [Abstract][Full Text] [Related]
17. 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. PubMed ID: 24652164
[TBL] [Abstract][Full Text] [Related]
18. 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; Qamar R; Webster AR; Cremers FPM; Moore AT; Koenekoop RK; ; Andreasson S; de Baere E; Bennett J; Chader GJ; Berger W; Golovleva I; Greenberg J; den Hollander AI; Klaver CCW; Klevering BJ; Lorenz B; Preising MN; Ramsear R; Roberts L; Roepman R; Rohrschneider K; Wissinger B
Hum Mutat; 2013 Nov; 34(11):1537-1546. PubMed ID: 23946133
[TBL] [Abstract][Full Text] [Related]
19. Macular Dystrophy and Cone-Rod Dystrophy Caused by Mutations in the RP1 Gene: Extending the RP1 Disease Spectrum.
Verbakel SK; van Huet RAC; den Hollander AI; Geerlings MJ; Kersten E; Klevering BJ; Klaver CCW; Plomp AS; Wesseling NL; Bergen AAB; Nikopoulos K; Rivolta C; Ikeda Y; Sonoda KH; Wada Y; Boon CJF; Nakazawa T; Hoyng CB; Nishiguchi KM
Invest Ophthalmol Vis Sci; 2019 Mar; 60(4):1192-1203. PubMed ID: 30913292
[TBL] [Abstract][Full Text] [Related]
20. Novel ABCA4 compound heterozygous mutations cause severe progressive autosomal recessive cone-rod dystrophy presenting as Stargardt disease.
Xi Q; Li L; Traboulsi EI; Wang QK
Mol Vis; 2009; 15():638-45. PubMed ID: 19352439
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]