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Results 1 - 10 of 36 for Retinitis pigmentosa 6
  1. Retinitis pigmentosa 
    ... 15 percent of all cases of autosomal recessive retinitis pigmentosa. Changes in at least six genes are thought to cause the X-linked ... Central Fahim AT, Daiger SP, Weleber RG. Nonsyndromic Retinitis Pigmentosa Overview. 2000 Aug 4 [updated 2023 Apr 6]. In: Adam MP, Feldman J, Mirzaa GM, Pagon ...
    https://medlineplus.gov/genetics/condition/retinitis-pigmentosa - Genetics
  2. RP2 gene 
    ... North American cohort of families with X-linked retinitis pigmentosa. Am J Hum Genet. 2002 Jun;70(6):1545-54. doi: 10.1086/340848. Epub 2002 Apr 30. Citation on PubMed or Free article on PubMed Central ... on molecules: X-linked Retinitis Pigmentosa 2 protein, RP2. Exp Eye Res. 2006 Apr; ...
    https://medlineplus.gov/genetics/gene/rp2 - Genetics
  3. RPGR gene 
    ... within a new RPGR exon in X-linked retinitis pigmentosa. Nat Genet. 2000 Aug;25(4):462-6. doi: 10.1038/78182. Citation on PubMed Wright ...
    https://medlineplus.gov/genetics/gene/rpgr - Genetics
  4. RHO gene 
    ... of the rhodopsin gene in one form of retinitis pigmentosa. Nature. 1990 Jan 25;343(6256):364-6. doi: 10.1038/343364a0. Citation on PubMed McAlear SD, Kraft TW, Gross AK. 1 rhodopsin mutations in congenital night blindness. Adv Exp ... retinitis pigmentosa: implications for therapy. Trends Mol Med. 2005 Apr; ...
    https://medlineplus.gov/genetics/gene/rho - Genetics
  5. TTPA gene 
    ... Mizusawa H, Inoue K. Friedreich-like ataxia with retinitis pigmentosa caused by the His101Gln mutation of the alpha-tocopherol transfer protein gene. Ann Neurol. 1997 Jun;41(6):826-32. doi: 10.1002/ana.410410621. Citation ...
    https://medlineplus.gov/genetics/gene/ttpa - Genetics
  6. Mainzer-Saldino syndrome 
    ... Lucchina AG, Migliario M. Saldino-Mainzer syndrome: nephronophthisis, retinitis pigmentosa, and cone-shaped epiphyses. J Craniofac Surg. 2010 Sep;21(5):1554-6. doi: 10.1097/SCS.0b013e3181ec69bb. Citation on PubMed ...
    https://medlineplus.gov/genetics/condition/mainzer-saldino-syndrome - Genetics
  7. RPE65 gene 
    ... the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis. Proc Natl Acad Sci U S A. 1998 Mar 17;95(6):3088-93. doi: 10.1073/pnas.95.6. ...
    https://medlineplus.gov/genetics/gene/rpe65 - Genetics
  8. 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) ...
    https://medlineplus.gov/.../ataxia-with-vitamin-e-deficiency - Genetics
  9. Neuropathy, ataxia, and retinitis pigmentosa 
    ... gene: a clinical, biochemical, and molecular study in six families. J Neurol Neurosurg Psychiatry. 1997 Jul;63(1):16-22. doi: 10.1136/jnnp.63.1.16. Citation on PubMed or Free article on PubMed Central
    https://medlineplus.gov/...europathy-ataxia-and-retinitis-pigmentosa - Genetics
  10. Senior-Løken syndrome 
    ... 62. doi: 10.1016/s0272-6386(98)70083-6. Citation on PubMed Otto ... pigmentosa encodes a novel protein, nephroretinin, conserved in evolution. ...
    https://medlineplus.gov/genetics/condition/senior-loken-syndrome - Genetics
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