| 1 | CORD5, CORD6, GUCY2D, LCA1
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| Photoreceptor Guanylate Cyclase (GUCY2D) Mutations Cause Retinal Dystrophies by Severe Malfunction of Ca2+-Dependent Cyclic GMP Synthesis.
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| Wimberg H, Lev D, Yosovich K, Namburi P, Banin E, Sharon D, Koch KW.
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| Front Mol Neurosci. Sep 25;11:348. doi: 10.3389/fnmol.2018.00348. eCollection 2018. 2018
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| 2 | CORD6, GUCY2D
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| A novel recessive GUCY2D mutation causing cone-rod dystrophy and not Leber's congenital amaurosis.
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| Ugur Iseri SA, Durlu YK, Tolun A.
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| Eur J Hum Genet ur J Hum Genet. 2010 Jun 2. [Epub ahead of print]PMID: 20517349 2010
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| 3 | CORD6, GUCY2D
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| New mutation, P575L, in the GUCY2D gene in a family with autosomal dominant progressive cone degeneration.
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| Small KW, Silva-Garcia R, Udar N, Nguyen EV, Heckenlively JR.
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| Arch Ophthalmol 126(3):397-403.PMID: 18332321 2008
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| 4 | GUCY2D, CORD6
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| Phenotype of autosomal dominant cone-rod dystrophy due to the R838C mutation of the GUCY2D gene encoding retinal guanylate cyclase-1.
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| Smith M, Whittock N, Searle A, Croft M, Brewer C, Cole M.
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| Eye 21(9):1220-5. Epub 2006 Oct 13. 2007
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| 5 | CORD6, GUCY2D
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| Clustering and frequency of mutations in the retinal guanylate cyclase (GUCY2D) gene in patients with dominant cone-rod dystrophies.
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| Payne AM, Morris AG, Downes SM, Johnson S, Bird AC, Moore AT, Bhattacharya SS, Hunt DM.
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| J Med Genet 38(9):611-4. No abstract available. 2001
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| 6 | CORD6, GUCY2D
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| Autosomal dominant cone-rod retinal dystrophy (CORD6) from heterozygous mutation of GUCY2D, which encodes retinal guanylate cyclase.
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| Gregory-Evans K, Kelsell RE, Gregory-Evans CY, Downes SM, Fitzke FW, Holder GE, Simunovic M, Mollon JD, Taylor R, Hunt DM, Bird AC, Moore AT.
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| Ophthalmology 107(1):55-61. 2000
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| 7 | CORD6, GUCY2D, LCA1
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| Spectrum of retGC1 mutations in Leber's congenital amaurosis.
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| Perrault I, Rozet JM, Gerber S, Ghazi I, Ducroq D, Souied E, Leowski C, Bonnemaison M, Dufier JL, Munnich A, Kaplan J.
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| Eur J Hum Genet 8(8):578-82. 2000
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| 8 | CORD6, GUCY2D
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| Functional characterization of missense mutations at codon 838 in retinal guanylate cyclase correlates with disease severity in patients with autosomal dominant cone-rod dystrophy.
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| Wilkie SE, Newbold RJ, Deery E, Walker CE, Stinton I, Ramamurthy V, Hurley JB, Bhattacharya SS, Warren MJ, Hunt DM.
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| Hum Mol Genet 9(20):3065-73. 2000
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| 9 | CORD6, GUCY2D
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| Biochemical analysis of a dimerization domain mutation in RetGC-1 associated with dominant cone-rod dystrophy.
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| Tucker CL, et al.
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| Proc Natl Acad Sci U S A 96(16):9039-44. 1999
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| 10 | CORD6, GUCY2D
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| Mutations in the rod outer segment membrane guanylate cyclase in a cone-rod dystrophy cause defects in calcium signaling.
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| Duda T, Krishnan A, Venkataraman V, Lange C, Koch KW, Sharma RK.
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| Biochemistry 38(42):13912-9 1999
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| 11 | CORD6, GUCY2D
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| Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy.
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| Kelsell RE, et al.
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| Hum Mol Genet 7 : 1179-1184. 1998
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| 12 | CORD6, GUCY2D
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| A retGC-1 mutation in autosomal dominant cone-rod dystrophy.
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| Perrault I, Rozet JM, Gerber S, Kelsell RE, Souied E, Cabot A, Hunt DM, Munnich A, Kaplan J.
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| Am J Hum Genet 63 : 651-654. 1998
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| 13 | CORD6
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| Localisation of a gene for dominant cone-rod dystrophy (CORD6) to chromosome 17p.
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| Kelsell RE, et al.
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| Hum Mol Genet 6 : 597-600. 1997
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| 14 | CORD3, CORD6
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| Mapping of autosomal dominant cone degeneration to chromosome 17p.
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| Small KW, Syrquin M, Mullen L, Gehrs K.
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| Am J Ophthalmol 121(1):13-8. 1996
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