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Results 1 - 10 of 20 for Retinitis pigmentosa 18
  1. ... PubMed Central Hartong DT, Berson EL, Dryja TP. Retinitis pigmentosa. Lancet. 2006 Nov 18;368(9549):1795-809. doi: 10.1016/S0140- ...
  2. ... 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
  3. ... 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 ...
  4. ... 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 ...
  5. ... Usher syndrome. Orphanet J Rare Dis. 2014 Nov 18;9:168. doi: ... pathogenesis, molecular diagnosis and therapeutic approaches. Curr Opin ...
  6. ... developmental delay (SIFD). Blood. 2014 Oct 30;124(18):2867-71. doi: ... retinitis pigmentosa with erythrocytic microcytosis. Hum Mol Genet. 2016 Jan ...
  7. ... developmental delay (SIFD). Blood. 2014 Oct 30;124(18):2867-71. doi: ... retinitis pigmentosa with erythrocytic microcytosis. Hum Mol Genet. 2016 Jan ...
  8. ... light that remains stable (stationary) over time. Unlike retinitis pigmentosa (described below), autosomal dominant congenital stationary night blindness ...
  9. ... This Health Condition MedlinePlus Genetics provides information about Retinitis pigmentosa More About This Health Condition CRUM1_HUMAN crumbs ... 1 (Drosophila) LCA8 RP12 Tests of CRB1 PubMed RETINITIS PIGMENTOSA 12; RP12 CRUMBS CELL POLARITY COMPLEX COMPONENT 1; ...
  10. Bardet-Biedl Syndrome (Foundation Fighting Blindness)  
    Retinal Disorders/Specifics ... Retinal Disorders ... Birth Defects/Specifics ... Birth Defects ... Foundation Fighting Blindness ... What is Bardet Biedl Syndrome? Learn about ...
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