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Results 1 - 10 of 24 for "Cone-rod" dystrophy 10
  1. GUCY2D gene 
    ... guanylate cyclase (GUCY2D) gene in patients with dominant cone-rod dystrophies. J Med Genet. 2001 Sep;38(9):611-4. doi: 10.1136/jmg.38.9.611. No abstract available. ...
    https://medlineplus.gov/genetics/gene/gucy2d - Genetics
  2. CRX gene 
    ... in 20 genes in 130 unrelated patients with cone-rod dystrophy. Mol Med Rep. 2013 Jun;7(6):1779-85. doi: 10.3892/mmr.2013.1415. Epub 2013 Apr 5. ... P, Guo X, Zhang Q. CRX variants in cone-rod dystrophy and mutation overview. ... 2012 Oct 5;426(4):498-503. doi: 10.1016/j.bbrc.2012.08.110. Epub 2012 ...
    https://medlineplus.gov/genetics/gene/crx - Genetics
  3. USH2A gene 
    ... common cause of the autosomal recessive form of retinitis pigmentosa, accounting for 10 to 15 percent of all cases. This form ... with Usher syndrome type II or non-syndromic retinitis pigmentosa. J Med Genet. 2010 Jul;47(7):499-506. doi: 10.1136/jmg.2009.075143. Epub 2010 May 27. ...
    https://medlineplus.gov/genetics/gene/ush2a - Genetics
  4. RPGR gene 
    ... novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) families. Invest Ophthalmol Vis Sci. 2005 Jun;46(6):1891-8. doi: 10.1167/iovs.04-1482. Citation on PubMed Iannaccone ...
    https://medlineplus.gov/genetics/gene/rpgr - Genetics
  5. ABCA4 gene 
    ... genetic etiology, and visual outcome in cone and cone-rod dystrophy. Ophthalmology. 2012 Apr;119(4):819-26. doi: 10.1016/j.ophtha.2011.10.011. Epub 2012 ...
    https://medlineplus.gov/genetics/gene/abca4 - Genetics
  6. PRPH2 gene 
    ... Holder GE, Bradshaw K, Hunt DM, Moore AT. Cone-rod dystrophy, intrafamilial variability, and incomplete penetrance associated with the R172W mutation in the peripherin/RDS gene. Ophthalmology. 2005 Sep;112(9):1592-8. doi: 10.1016/j.ophtha.2005.04.004. Citation on ...
    https://medlineplus.gov/genetics/gene/prph2 - Genetics
  7. RP2 gene 
    ... RP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosa. Arch Ophthalmol. 2010 Jul;128(7):915-23. doi: 10.1001/archophthalmol.2010.122. Citation on PubMed or ...
    https://medlineplus.gov/genetics/gene/rp2 - Genetics
  8. CACNA1F gene 
    ... EM, Alitalo T, Bech-Hansen NT. X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene. J Med Genet. 2006 Aug;43(8):699-704. doi: 10.1136/jmg.2006.040741. Epub 2006 Feb 27. ...
    https://medlineplus.gov/genetics/gene/cacna1f - Genetics
  9. RHO gene 
    ... of the rhodopsin gene in one form of retinitis pigmentosa. Nature. 1990 Jan 25;343(6256):364-6. doi: 10.1038/343364a0. Citation on PubMed McAlear SD, Kraft ...
    https://medlineplus.gov/genetics/gene/rho - Genetics
  10. CRB1 gene 
    ... in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12). Nat Genet. 1999 Oct;23(2):217-21. doi: 10.1038/13848. Citation on PubMed Gosens I, den ...
    https://medlineplus.gov/genetics/gene/crb1 - Genetics
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