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"Cone-rod" dystrophy 19
- ... Registry: Cone-rod dystrophy 18 Genetic Testing Registry: Cone-rod dystrophy 19 Genetic Testing Registry: Cone-rod dystrophy 2 Genetic ... DYSTROPHY 9; CORD9 CONE-ROD DYSTROPHY 21; CORD21 CONE-ROD DYSTROPHY 19; CORD19 CONE-ROD DYSTROPHY 17; CORD17 CONE-ROD ...
- ... Positional cloning of the gene for X-linked retinitis pigmentosa 2. Nat Genet. 1998 Aug;19(4):327-32. doi: 10.1038/1214. Citation ...
- ... CALCIUM CHANNEL, VOLTAGE-DEPENDENT, ALPHA-1F SUBUNIT; CACNA1F CONE-ROD DYSTROPHY, X-LINKED, 3; ... X-linked congenital stationary night blindness. Nat Genet. 1998 Jul;19(3):264-7. doi: 10.1038/947. Citation ...
- ... This Health Condition MedlinePlus Genetics provides information about Retinitis pigmentosa More About This Health Condition ... NCBI Gene ClinVar Bredrup C, Saunier S, ...
- ... 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 ...
- ... Am J Hum Genet. 2008 Jan;82(1):19-31. doi: 10.1016/j.ajhg.2007.08.004. Citation on ... bestrophin-1, cause retinitis pigmentosa. Am J Hum Genet. 2009 Nov;85(5): ...
- ... night blindness, Stickler syndrome, Marfan syndrome, retinitis pigmentosa, cone-rod dystrophy, deafness and myopia syndrome, Knobloch syndrome, and Cohen ...
- ... doi: 10.1093/hmg/ddh092. Epub 2004 Feb 19. Citation on PubMed Muller J, Stoetzel C, Vincent ...
- ... This Health Condition MedlinePlus Genetics provides information about Cone-rod dystrophy More About This Health Condition ACHM5 cGMP phosphodiesterase ...
- ... This Health Condition MedlinePlus Genetics provides information about Cone-rod dystrophy More About This Health Condition Mutations in the ... cGMP-gated cation channel. Nat Genet. 1998 Jul;19(3):257-9. doi: 10.1038/935. Citation ...