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Results 1 - 10 of 15 for "Cone-rod" dystrophy 7
  1. Cone-rod dystrophy 
    ... Registry: Cone-rod dystrophy 6 Genetic Testing Registry: Cone-rod dystrophy 7 Genetic Testing Registry: Cone-rod dystrophy 9 Genetic ... CORD5 CONE-ROD DYSTROPHY, X-LINKED, 2; CORDX2 CONE-ROD DYSTROPHY 7; CORD7 CONE-ROD DYSTROPHY 3; CORD3 CONE DYSTROPHY ...
    https://medlineplus.gov/genetics/condition/cone-rod-dystrophy - Genetics
  2. Cold-induced sweating syndrome 
    ... Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa. Am J Hum Genet. 2016 Jul 7;99(1):236-45. doi: 10.1016/j. ...
    https://medlineplus.gov/.../condition/cold-induced-sweating-syndrome - Genetics
  3. Retinitis pigmentosa 
    ... PubMed Central Hartong DT, Berson EL, Dryja TP. Retinitis pigmentosa. Lancet. 2006 Nov 18;368(9549):1795-809. doi: 10.1016/S0140-6736(06)69740-7. Citation on PubMed Pelletier V, Jambou M, Delphin ...
    https://medlineplus.gov/genetics/condition/retinitis-pigmentosa - Genetics
  4. Mainzer-Saldino syndrome 
    ... of cone-shaped epiphysis, renal disease in childhood, retinitis pigmentosa and abnormality of the proximal femur. Am J Med Genet A. 2007 Oct 15;143A(20):2444-7. doi: 10.1002/ajmg.a.31948. Citation on ...
    https://medlineplus.gov/genetics/condition/mainzer-saldino-syndrome - Genetics
  5. Senior-Løken syndrome 
    ... Hildebrandt F. A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution. Am J Hum Genet. 2002 Nov;71(5):1161-7. doi: 10.1086/344395. Epub 2002 Aug 29. ...
    https://medlineplus.gov/genetics/condition/senior-loken-syndrome - Genetics
  6. Ataxia with vitamin E deficiency 
    ... T, Harino S, Suzuki J. Clinicopathological report of retinitis pigmentosa with vitamin E deficiency caused by mutation of the alpha-tocopherol transfer protein gene. Jpn J Ophthalmol. 2001 Nov-Dec;45(6):672-6. doi: 10.1016/s0021-5155(01)00425-7. Citation on PubMed Qian J, Atkinson J, Manor ...
    https://medlineplus.gov/.../ataxia-with-vitamin-e-deficiency - Genetics
  7. Usher syndrome 
    ... 9:168. doi: 10.1186/s13023-014-0168-7. Citation on PubMed or Free article on PubMed Central Bonnet C, El-Amraoui A. Usher syndrome (sensorineural deafness and retinitis pigmentosa): pathogenesis, molecular diagnosis and therapeutic approaches. Curr Opin ...
    https://medlineplus.gov/genetics/condition/usher-syndrome - Genetics
  8. TRNT1 deficiency 
    ... 2 to 4 weeks and lasting 5 to 7 days, although the frequency can decrease with ... called retinitis pigmentosa, in which the light-sensing cells of the ...
    https://medlineplus.gov/genetics/condition/trnt1-deficiency - Genetics
  9. Nearsightedness 
    ... night blindness, Stickler syndrome, Marfan syndrome, retinitis pigmentosa, cone-rod dystrophy, deafness and myopia syndrome, Knobloch syndrome, and Cohen ...
    https://medlineplus.gov/genetics/condition/nearsightedness - Genetics
  10. Bardet-Biedl syndrome 
    ... beyond the cilium. Pediatr Nephrol. 2007 Jul;22(7):926-36. doi: 10.1007/s00467-007-0435- ...
    https://medlineplus.gov/genetics/condition/bardet-biedl-syndrome - Genetics
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