458 related articles for article (PubMed ID: 9804150)
1. Retinal degenerations with truncation mutations in the cone-rod homeobox (CRX) gene.
Jacobson SG; Cideciyan AV; Huang Y; Hanna DB; Freund CL; Affatigato LM; Carr RE; Zack DJ; Stone EM; McInnes RR
Invest Ophthalmol Vis Sci; 1998 Nov; 39(12):2417-26. PubMed ID: 9804150
[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. Disease expression in X-linked retinitis pigmentosa caused by a putative null mutation in the RPGR gene.
Jacobson SG; Buraczynska M; Milam AH; Chen C; Järvaläinen M; Fujita R; Wu W; Huang Y; Cideciyan AV; Swaroop A
Invest Ophthalmol Vis Sci; 1997 Sep; 38(10):1983-97. PubMed ID: 9331262
[TBL] [Abstract][Full Text] [Related]
4. Disease expression of RP1 mutations causing autosomal dominant retinitis pigmentosa.
Jacobson SG; Cideciyan AV; Iannaccone A; Weleber RG; Fishman GA; Maguire AM; Affatigato LM; Bennett J; Pierce EA; Danciger M; Farber DB; Stone EM
Invest Ophthalmol Vis Sci; 2000 Jun; 41(7):1898-908. PubMed ID: 10845615
[TBL] [Abstract][Full Text] [Related]
5. Novel 615delC mutation in the CRX gene in a Japanese family with cone-rod dystrophy.
Itabashi T; Wada Y; Sato H; Kawamura M; Shiono T; Tamai M
Am J Ophthalmol; 2004 Nov; 138(5):876-7. PubMed ID: 15531334
[TBL] [Abstract][Full Text] [Related]
6. Human retinal disease from AIPL1 gene mutations: foveal cone loss with minimal macular photoreceptors and rod function remaining.
Jacobson SG; Cideciyan AV; Aleman TS; Sumaroka A; Roman AJ; Swider M; Schwartz SB; Banin E; Stone EM
Invest Ophthalmol Vis Sci; 2011 Jan; 52(1):70-9. PubMed ID: 20702822
[TBL] [Abstract][Full Text] [Related]
7. Retinal disease expression in Bardet-Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration.
Azari AA; Aleman TS; Cideciyan AV; Schwartz SB; Windsor EA; Sumaroka A; Cheung AY; Steinberg JD; Roman AJ; Stone EM; Sheffield VC; Jacobson SG
Invest Ophthalmol Vis Sci; 2006 Nov; 47(11):5004-10. PubMed ID: 17065520
[TBL] [Abstract][Full Text] [Related]
8. Tubby-like protein 1 homozygous splice-site mutation causes early-onset severe retinal degeneration.
Lewis CA; Batlle IR; Batlle KG; Banerjee P; Cideciyan AV; Huang J; Alemán TS; Huang Y; Ott J; Gilliam TC; Knowles JA; Jacobson SG
Invest Ophthalmol Vis Sci; 1999 Aug; 40(9):2106-14. PubMed ID: 10440267
[TBL] [Abstract][Full Text] [Related]
9. Cloning and characterization of the canine photoreceptor specific cone-rod homeobox (CRX) gene and evaluation as a candidate for early onset photoreceptor diseases in the dog.
Akhmedov NB; Baldwin VJ; Zangerl B; Kijas JW; Hunter L; Minoofar KD; Mellersh C; Ostrander EA; Acland GM; Farber DB; Aguirre GD
Mol Vis; 2002 Mar; 8():79-84. PubMed ID: 11951083
[TBL] [Abstract][Full Text] [Related]
10. Novel NR2E3 mutations (R104Q, R334G) associated with a mild form of enhanced S-cone syndrome demonstrate compound heterozygosity.
Hayashi T; Gekka T; Goto-Omoto S; Takeuchi T; Kubo A; Kitahara K
Ophthalmology; 2005 Dec; 112(12):2115. PubMed ID: 16225923
[TBL] [Abstract][Full Text] [Related]
11. Retinal disease in Usher syndrome III caused by mutations in the clarin-1 gene.
Herrera W; Aleman TS; Cideciyan AV; Roman AJ; Banin E; Ben-Yosef T; Gardner LM; Sumaroka A; Windsor EA; Schwartz SB; Stone EM; Liu XZ; Kimberling WJ; Jacobson SG
Invest Ophthalmol Vis Sci; 2008 Jun; 49(6):2651-60. PubMed ID: 18281613
[TBL] [Abstract][Full Text] [Related]
12. Cone and cone-rod dystrophy segregating in the same pedigree due to the same novel CRX gene mutation.
Kitiratschky VB; Nagy D; Zabel T; Zrenner E; Wissinger B; Kohl S; Jägle H
Br J Ophthalmol; 2008 Aug; 92(8):1086-91. PubMed ID: 18653602
[TBL] [Abstract][Full Text] [Related]
13. Variable retinal phenotypes caused by mutations in the X-linked photopigment gene array.
Mizrahi-Meissonnier L; Merin S; Banin E; Sharon D
Invest Ophthalmol Vis Sci; 2010 Aug; 51(8):3884-92. PubMed ID: 20220053
[TBL] [Abstract][Full Text] [Related]
14. Mutation in the gene GUCA1A, encoding guanylate cyclase-activating protein 1, causes cone, cone-rod, and macular dystrophy.
Michaelides M; Wilkie SE; Jenkins S; Holder GE; Hunt DM; Moore AT; Webster AR
Ophthalmology; 2005 Aug; 112(8):1442-7. PubMed ID: 15953638
[TBL] [Abstract][Full Text] [Related]
15. Phenotypes of stop codon and splice site rhodopsin mutations causing retinitis pigmentosa.
Jacobson SG; Kemp CM; Cideciyan AV; Macke JP; Sung CH; Nathans J
Invest Ophthalmol Vis Sci; 1994 Apr; 35(5):2521-34. PubMed ID: 8163341
[TBL] [Abstract][Full Text] [Related]
16. The phenotype of early-onset retinal degeneration in persons with RDH12 mutations.
Schuster A; Janecke AR; Wilke R; Schmid E; Thompson DA; Utermann G; Wissinger B; Zrenner E; Gal A
Invest Ophthalmol Vis Sci; 2007 Apr; 48(4):1824-31. PubMed ID: 17389517
[TBL] [Abstract][Full Text] [Related]
17. Autosomal dominant cone-rod dystrophy due to a missense mutation (R838C) in the guanylate cyclase 2D gene (GUCY2D) with preserved rod function in one branch of the family.
Van Ghelue M; Eriksen HL; Ponjavic V; Fagerheim T; Andréasson S; Forsman-Semb K; Sandgren O; Holmgren G; Tranebjaerg L
Ophthalmic Genet; 2000 Dec; 21(4):197-209. PubMed ID: 11135490
[TBL] [Abstract][Full Text] [Related]
18. Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) families.
Ebenezer ND; Michaelides M; Jenkins SA; Audo I; Webster AR; Cheetham ME; Stockman A; Maher ER; Ainsworth JR; Yates JR; Bradshaw K; Holder GE; Moore AT; Hardcastle AJ
Invest Ophthalmol Vis Sci; 2005 Jun; 46(6):1891-8. PubMed ID: 15914600
[TBL] [Abstract][Full Text] [Related]
19. Yearly rates of rod and cone functional loss in retinitis pigmentosa and cone-rod dystrophy.
Birch DG; Anderson JL; Fish GE
Ophthalmology; 1999 Feb; 106(2):258-68. PubMed ID: 9951474
[TBL] [Abstract][Full Text] [Related]
20. Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2.
Wissinger B; Dangel S; Jägle H; Hansen L; Baumann B; Rudolph G; Wolf C; Bonin M; Koeppen K; Ladewig T; Kohl S; Zrenner E; Rosenberg T
Invest Ophthalmol Vis Sci; 2008 Feb; 49(2):751-7. PubMed ID: 18235024
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]