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Results 1 - 10 of 25 for "Cone-rod" dystrophy 24
  1. Cone-rod dystrophy 
    ... sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation. Orphanet J Rare Dis. 2015 Jun 24;10:85. doi: 10.1186/s13023-015-0300- ...
    https://medlineplus.gov/genetics/condition/cone-rod-dystrophy - Genetics
  2. GUCY2D gene 
    ... sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation. Orphanet J Rare Dis. 2015 Jun 24;10:85. doi: 10.1186/s13023-015-0300- ...
    https://medlineplus.gov/genetics/gene/gucy2d - Genetics
  3. 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/11.24. ...
    https://medlineplus.gov/genetics/gene/rp2 - Genetics
  4. Retinitis Pigmentosa (Foundation Fighting Blindness)  
    Retinal Disorders/Specifics ... Retinal Disorders ... Usher Syndrome/Learn More ... Usher Syndrome ... Foundation Fighting Blindness ... What is Retinitis Pigmentosa? Learn about ...
    https://www.fightingblindness.org/diseases/retinitis-pigmentosa - External Health Links
  5. CRB1 gene 
    ... Hoyng CB, Cremers FP. Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene. Am J Hum Genet. 2001 Jul;69(1):198-203. doi: 10.1086/321263. Epub 2001 May 24. Erratum In: Am J Hum Genet 2001 Nov; ...
    https://medlineplus.gov/genetics/gene/crb1 - Genetics
  6. 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
  7. Usher syndrome 
    ... vision is caused by an eye disease called retinitis pigmentosa (RP), which affects the layer of light-sensitive ... of the eye (cataracts). However, many people with retinitis pigmentosa retain some central vision throughout their lives.Researchers ...
    https://medlineplus.gov/genetics/condition/usher-syndrome - Genetics
  8. CNGA3 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Cone-rod dystrophy More About This Health Condition Mutations in the ... H, Wissinger B, Zobor D. Achromatopsia. 2004 Jun 24 [updated 2018 Sep 20]. In: Adam MP, Feldman ...
    https://medlineplus.gov/genetics/gene/cnga3 - Genetics
  9. CNGB3 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Cone-rod dystrophy More About This Health Condition Mutations in the ... H, Wissinger B, Zobor D. Achromatopsia. 2004 Jun 24 [updated 2018 Sep 20]. In: Adam MP, Feldman ...
    https://medlineplus.gov/genetics/gene/cngb3 - Genetics
  10. PDE6C gene 
    ... This Health Condition MedlinePlus Genetics provides information about Cone-rod dystrophy More About This Health Condition ACHM5 cGMP phosphodiesterase ...
    https://medlineplus.gov/genetics/gene/pde6c - Genetics
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