183 related articles for article (PubMed ID: 24547929)
1. 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]
2. CERKL mutations cause an autosomal recessive cone-rod dystrophy with inner retinopathy.
Aleman TS; Soumittra N; Cideciyan AV; Sumaroka AM; Ramprasad VL; Herrera W; Windsor EA; Schwartz SB; Russell RC; Roman AJ; Inglehearn CF; Kumaramanickavel G; Stone EM; Fishman GA; Jacobson SG
Invest Ophthalmol Vis Sci; 2009 Dec; 50(12):5944-54. PubMed ID: 19578027
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. IMPG2-associated retinitis pigmentosa displays relatively early macular involvement.
van Huet RA; Collin RW; Siemiatkowska AM; Klaver CC; Hoyng CB; Simonelli F; Khan MI; Qamar R; Banin E; Cremers FP; Theelen T; den Hollander AI; van den Born LI; Klevering BJ
Invest Ophthalmol Vis Sci; 2014 May; 55(6):3939-53. PubMed ID: 24876279
[TBL] [Abstract][Full Text] [Related]
6. 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. PubMed ID: 25342276
[TBL] [Abstract][Full Text] [Related]
7. CERKL mutations and associated phenotypes in seven Spanish families with autosomal recessive retinitis pigmentosa.
Avila-Fernandez A; Riveiro-Alvarez R; Vallespin E; Wilke R; Tapias I; Cantalapiedra D; Aguirre-Lamban J; Gimenez A; Trujillo-Tiebas MJ; Ayuso C
Invest Ophthalmol Vis Sci; 2008 Jun; 49(6):2709-13. PubMed ID: 18515597
[TBL] [Abstract][Full Text] [Related]
8. C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations.
Gerth-Kahlert C; Tiwari A; Hanson JVM; Batmanabane V; Traboulsi E; Pennesi ME; Al-Qahtani AA; Lam BL; Heckenlively J; Zweifel SA; Vincent A; Fierz F; Barthelmes D; Branham K; Khan N; Bahr A; Baehr L; Magyar I; Koller S; Azzarello-Burri S; Niedrist D; Heon E; Berger W
Invest Ophthalmol Vis Sci; 2017 Aug; 58(10):3840-3850. PubMed ID: 28763557
[TBL] [Abstract][Full Text] [Related]
9. Outer retina analysis by optical coherence tomography in cone-rod dystrophy patients.
Lima LH; Sallum JM; Spaide RF
Retina; 2013 Oct; 33(9):1877-80. PubMed ID: 23648999
[TBL] [Abstract][Full Text] [Related]
10. Expanded Retinal Disease Spectrum Associated With Autosomal Recessive Mutations in GUCY2D.
Stunkel ML; Brodie SE; Cideciyan AV; Pfeifer WL; Kennedy EL; Stone EM; Jacobson SG; Drack AV
Am J Ophthalmol; 2018 Jun; 190():58-68. PubMed ID: 29559409
[TBL] [Abstract][Full Text] [Related]
11. Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype.
Littink KW; van den Born LI; Koenekoop RK; Collin RW; Zonneveld MN; Blokland EA; Khan H; Theelen T; Hoyng CB; Cremers FP; den Hollander AI; Klevering BJ
Ophthalmology; 2010 Oct; 117(10):2026-33, 2033.e1-7. PubMed ID: 20537394
[TBL] [Abstract][Full Text] [Related]
12. 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; 53(7):3927-38. PubMed ID: 22570351
[TBL] [Abstract][Full Text] [Related]
13. SPATA7: Evolving phenotype from cone-rod dystrophy to retinitis pigmentosa.
Matsui R; McGuigan Iii DB; Gruzensky ML; Aleman TS; Schwartz SB; Sumaroka A; Koenekoop RK; Cideciyan AV; Jacobson SG
Ophthalmic Genet; 2016 Sep; 37(3):333-8. PubMed ID: 26854980
[TBL] [Abstract][Full Text] [Related]
14. CERKL mutation causing retinitis pigmentosa(RP) in Indian population - a genotype and phenotype correlation study.
Sen P; Maitra P; Natarajan S; Sripriya S; Mathavan S; Bhende M; Manchegowda PT
Ophthalmic Genet; 2020 Dec; 41(6):570-578. PubMed ID: 32865075
[TBL] [Abstract][Full Text] [Related]
15. CERKL gene knockout disturbs photoreceptor outer segment phagocytosis and causes rod-cone dystrophy in zebrafish.
Yu S; Li C; Biswas L; Hu X; Liu F; Reilly J; Liu X; Liu Y; Huang Y; Lu Z; Han S; Wang L; Yu Liu J; Jiang T; Shu X; Wong F; Tang Z; Liu M
Hum Mol Genet; 2017 Jun; 26(12):2335-2345. PubMed ID: 28398482
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. Central retinal findings in Bothnia dystrophy caused by RLBP1 sequence variation.
Burstedt MS; Golovleva I
Arch Ophthalmol; 2010 Aug; 128(8):989-95. PubMed ID: 20696998
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Ocular phenotype of CORD5, an autosomal dominant retinal dystrophy associated with PITPNM3 p.Q626H mutation.
Reinis A; Golovleva I; Köhn L; Sandgren O
Acta Ophthalmol; 2013 May; 91(3):259-66. PubMed ID: 22405330
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]