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Results 1 - 10 of 41 for "Cone-rod" dystrophy 9
  1. Cone-rod dystrophy 
    ... Registry: Cone-rod dystrophy 7 Genetic Testing Registry: Cone-rod dystrophy 9 Genetic Testing Registry: Cone-rod dystrophy Genetic Testing ... DYSTROPHY 18; CORD18 CONE-ROD DYSTROPHY 20; CORD20 CONE-ROD DYSTROPHY 9; CORD9 CONE-ROD DYSTROPHY 21; CORD21 CONE-ROD ...
    https://medlineplus.gov/genetics/condition/cone-rod-dystrophy - Genetics
  2. 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. ...
    https://medlineplus.gov/genetics/gene/gucy2d - Genetics
  3. 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. ...
    https://medlineplus.gov/genetics/gene/prph2 - Genetics
  4. Retinitis pigmentosa 
    ... known genes account for 58% of autosomal dominant retinitis pigmentosa (adRP). Adv Exp Med Biol. 2008;613:203-9. doi: 10.1007/978-0-387-74904-4_23. No abstract available. Citation on PubMed or Free article on PubMed Central ... RG. Nonsyndromic Retinitis Pigmentosa Overview. 2000 Aug 4 [updated 2023 Apr 6]. ...
    https://medlineplus.gov/genetics/condition/retinitis-pigmentosa - Genetics
  5. Usher syndrome 
    ... El-Amraoui A. Usher syndrome (sensorineural deafness and retinitis pigmentosa): pathogenesis, molecular diagnosis and therapeutic approaches. Curr Opin Neurol. 2012 Feb;25(1):42-9. doi: 10.1097/WCO.0b013e32834ef8b2. Citation on PubMed ...
    https://medlineplus.gov/genetics/condition/usher-syndrome - Genetics
  6. WDR19 gene 
    ... intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome. Clin Genet. 2013 Aug;84(2):150-9. doi: 10.1111/cge.12196. Citation on PubMed ...
    https://medlineplus.gov/genetics/gene/wdr19 - Genetics
  7. USH2A gene 
    ... EL. Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene. Invest Ophthalmol Vis Sci. 2008 Dec;49(12):5532-9. doi: 10.1167/iovs.08-2009. Epub 2008 ...
    https://medlineplus.gov/genetics/gene/ush2a - Genetics
  8. Retinitis Pigmentosa (Foundation Fighting Blindness)  
    Usher Syndrome/Learn More ... Usher Syndrome ... Retinal Disorders/Specifics ... Retinal Disorders ... Foundation Fighting Blindness ... What is Retinitis Pigmentosa? Learn about ...
    https://www.fightingblindness.org/diseases/retinitis-pigmentosa - External Health Links
  9. RPGR gene 
    ... RPGR), a ciliary protein mutated in X-linked Retinitis Pigmentosa (XLRP). Adv Exp Med Biol. 2010;664:105-14. doi: 10.1007/978-1-4419-1399-9_13. Citation on PubMed or Free article on ...
    https://medlineplus.gov/genetics/gene/rpgr - Genetics
  10. Neuropathy, ataxia, and retinitis pigmentosa 
    ... Rare Disorders (NORD) ClinicalTrials.gov NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA PubMed Ball M, Thorburn DR, Rahman S. Mitochondrial DNA-Associated Leigh Syndrome Spectrum. 2003 Oct 30 [updated 2024 May 9]. In: Adam MP, Feldman J, Mirzaa GM, Pagon ...
    https://medlineplus.gov/...europathy-ataxia-and-retinitis-pigmentosa - Genetics
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