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Results 1 - 10 of 62 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. Retinitis pigmentosa 
    ... Ophthalmology . 6th ed. Philadelphia, PA: Elsevier; 2023:chap 6.12. Gregory-Evans K, Yang P, Pennesi ME. Retinitis pigmentosa and allied disorders. In: Sadda SR, Sarraf D, ...
    https://medlineplus.gov/ency/article/001029.htm - Medical Encyclopedia
  8. Usher Syndrome From the National Institutes of Health (National Institute on Deafness and Other Communication Disorders)  
    Usher Syndrome/Learn More ... Usher Syndrome ... National Institute on Deafness and Other Communication Disorders ... Usher syndrome is the most common condition that ...
    https://www.nidcd.nih.gov/health/usher-syndrome - External Health Links
  9. 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
  10. Retinitis Pigmentosa (Foundation Fighting Blindness)  
    Usher Syndrome/Learn More ... Usher Syndrome ... Retinal Disorders/Specifics ... Retinal Disorders ... Foundation Fighting Blindness ... What is Retinitis Pigmentosa? Learn about ...
    https://www.fightingblindness.org/diseases/retinitis-pigmentosa - External Health Links
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