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Results 1 - 10 of 17 for "Cone-rod" dystrophy 18
  1. Cone-rod dystrophy 
    ... Registry: Cone-rod dystrophy 17 Genetic Testing Registry: Cone-rod dystrophy 18 Genetic Testing Registry: Cone-rod dystrophy 19 Genetic ... DYSTROPHY 11; CORD11 CONE-ROD DYSTROPHY 10; CORD10 CONE-ROD DYSTROPHY 18; CORD18 CONE-ROD DYSTROPHY 20; CORD20 CONE-ROD ...
    https://medlineplus.gov/genetics/condition/cone-rod-dystrophy - Genetics
  2. Retinitis pigmentosa 
    ... PubMed Central Hartong DT, Berson EL, Dryja TP. Retinitis pigmentosa. Lancet. 2006 Nov 18;368(9549):1795-809. doi: 10.1016/S0140- ...
    https://medlineplus.gov/genetics/condition/retinitis-pigmentosa - Genetics
  3. GUCY2D gene 
    ... Tolun A. A novel recessive GUCY2D mutation causing cone-rod dystrophy and not Leber's congenital amaurosis. Eur J Hum Genet. 2010 Oct;18(10):1121-6. doi: 10.1038/ejhg.2010. ...
    https://medlineplus.gov/genetics/gene/gucy2d - Genetics
  4. CLRN1 gene 
    ... R, den Hollander AI. CLRN1 mutations cause nonsyndromic retinitis pigmentosa. Ophthalmology. 2011 Jul;118(7):1444-8. doi: 10.1016/j.ophtha.2010.10.047. Epub 2011 Feb 18. Citation on PubMed
    https://medlineplus.gov/genetics/gene/clrn1 - Genetics
  5. 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 Jul 18. Citation on PubMed or Free article on PubMed ...
    https://medlineplus.gov/genetics/gene/ush2a - Genetics
  6. Refsum disease 
    ... disease Genetic Testing Registry: Phytanic acid storage disease ... variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7). Hum Mutat. 2004 Mar;23(3):209-18. doi: 10.1002/humu.10315. Citation on PubMed ...
    https://medlineplus.gov/genetics/condition/refsum-disease - Genetics
  7. Usher syndrome 
    ... Usher syndrome. Orphanet J Rare Dis. 2014 Nov 18;9:168. doi: ... pathogenesis, molecular diagnosis and therapeutic approaches. Curr Opin ...
    https://medlineplus.gov/genetics/condition/usher-syndrome - Genetics
  8. CACNA1F gene 
    ... This Health Condition MedlinePlus Genetics provides information about Cone-rod dystrophy More About This Health Condition Mutations in the ... These include Åland Island eye disease, X-linked cone-rod dystrophy, an X-linked retinal disorder in New Zealand, ...
    https://medlineplus.gov/genetics/gene/cacna1f - Genetics
  9. TRNT1 deficiency 
    ... developmental delay (SIFD). Blood. 2014 Oct 30;124(18):2867-71. doi: ... retinitis pigmentosa with erythrocytic microcytosis. Hum Mol Genet. 2016 Jan ...
    https://medlineplus.gov/genetics/condition/trnt1-deficiency - Genetics
  10. TRNT1 gene 
    ... developmental delay (SIFD). Blood. 2014 Oct 30;124(18):2867-71. doi: ... retinitis pigmentosa with erythrocytic microcytosis. Hum Mol Genet. 2016 Jan ...
    https://medlineplus.gov/genetics/gene/trnt1 - Genetics
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