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Results 1 - 10 of 35 for "Cone-rod" dystrophy 11
  1. Cone-rod dystrophy 
    ... Registry: Cone-rod dystrophy 10 Genetic Testing Registry: Cone-rod dystrophy 11 Genetic Testing Registry: Cone-rod dystrophy 12 Genetic ... DYSTROPHY 13; CORD13 CONE-ROD DYSTROPHY 8; CORD8 CONE-ROD DYSTROPHY 11; CORD11 CONE-ROD DYSTROPHY 10; CORD10 CONE-ROD ...
    https://medlineplus.gov/genetics/condition/cone-rod-dystrophy - Genetics
  2. CRX gene 
    ... Q. Exome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genes. PLoS One. 2013 Jun 11;8(6):e65546. doi: 10.1371/journal.pone. ...
    https://medlineplus.gov/genetics/gene/crx - Genetics
  3. Retinitis pigmentosa 
    ... gov/books/NBK1417/ Citation on PubMed Hamel C. Retinitis pigmentosa. Orphanet J Rare Dis. 2006 Oct 11;1:40. doi: 10.1186/1750-1172-1-40. Citation on PubMed or Free article on PubMed Central Hartong DT, Berson EL, Dryja TP. Retinitis pigmentosa. Lancet. 2006 Nov 18;368(9549):1795-809. ...
    https://medlineplus.gov/genetics/condition/retinitis-pigmentosa - Genetics
  4. RHO gene 
    ... Cheetham ME. Mechanisms of cell death in rhodopsin retinitis pigmentosa: implications for therapy. Trends Mol Med. 2005 Apr;11(4):177-85. doi: 10.1016/j.molmed. ...
    https://medlineplus.gov/genetics/gene/rho - Genetics
  5. RP2 gene 
    ... in the human retina of the X-linked retinitis pigmentosa protein RP2, its homologue cofactor C and the RP2 interacting protein Arl3. Hum Mol Genet. 2002 Nov 15;11(24):3065-74. doi: 10.1093/hmg/11. ...
    https://medlineplus.gov/genetics/gene/rp2 - Genetics
  6. RPGR gene 
    ... Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation. J Med Genet. 2003 Nov;40(11):e118. doi: 10.1136/jmg.40.11.e118. ...
    https://medlineplus.gov/genetics/gene/rpgr - Genetics
  7. GUCY2D gene 
    ... degeneration. Invest Ophthalmol Vis Sci. 2008 Nov;49(11):5015-23. doi: ... patients with dominant cone-rod dystrophies. J Med Genet. 2001 Sep;38(9):611- ...
    https://medlineplus.gov/genetics/gene/gucy2d - Genetics
  8. TTPA gene 
    ... T, Harino S, Suzuki J. Clinicopathological report of retinitis pigmentosa with ... protein. Biochemistry. 2006 Jul 11;45(27):8236-42. doi: 10.1021/bi060522c. ...
    https://medlineplus.gov/genetics/gene/ttpa - Genetics
  9. Ataxia with vitamin E deficiency 
    ... T, Harino S, Suzuki J. Clinicopathological report of retinitis pigmentosa with ... protein. Biochemistry. 2006 Jul 11;45(27):8236-42. doi: 10.1021/bi060522c. ...
    https://medlineplus.gov/.../ataxia-with-vitamin-e-deficiency - Genetics
  10. Bardet-Biedl Syndrome (Foundation Fighting Blindness)  
    Birth Defects/Specifics ... Birth Defects ... Retinal Disorders/Specifics ... Retinal Disorders ... Foundation Fighting Blindness ... What is Bardet Biedl Syndrome? Learn about ...
    https://www.fightingblindness.org/diseases/bardet-biedl-syndrome-bbs - External Health Links
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