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| | 1 - 10 of 113 journal articles in the PubMed database | Email to a friend | | |
| Crespí J, Buil JA, Bassaganyas F, et al.
A Novel Mutation Confirms MFRP as the Gene Causing the Syndrome of Nanophthalmos-Renititis Pigmentosa-Foveoschisis-Optic Disk Drusen. [JOURNAL ARTICLE]
Am J Ophthalmol 2008 Jun 11.
Abstract | Full Citation | Publisher Full Text | Find Related Articles | | Ayala-Ramirez R, Graue-Wiechers F, Robredo V, et al.
A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation. [Journal Article, Research Support, Non-U.S. Gov't]
Mol Vis 2006.:1483-9.
Abstract | Full Citation | Publisher Full Text | Find Related Articles | | Nakazawa M, Wada Y, Tamai M
Arrestin gene mutations in autosomal recessive retinitis pigmentosa. [Case Reports, Journal Article]
Arch Ophthalmol 1998 Apr; 116(4):498-501.
Abstract | Full Citation | Find Related Articles | | Zhang Q, Zulfiqar F, Riazuddin SA, et al.
Autosomal recessive retinitis pigmentosa in a Pakistani family mapped to CNGA1 with identification of a novel mutation. [Journal Article]
Mol Vis 2004 Nov 17.:884-9.
Abstract | Full Citation | Publisher Full Text | Find Related Articles | | Riazuddin SA, Zulfiqar F, Zhang Q, et al.
Autosomal recessive retinitis pigmentosa is associated with mutations in RP1 in three consanguineous Pakistani families. [Journal Article]
Invest Ophthalmol Vis Sci 2005 Jul; 46(7):2264-70.
Abstract | Full Citation | Publisher Full Text | Find Related Articles | | Buys YM, Pavlin CJ
Retinitis pigmentosa, nanophthalmos, and optic disc drusen: a case report. [Case Reports, Journal Article]
Ophthalmology 1999 Mar; 106(3):619-22.
Abstract | Full Citation | Publisher Full Text | Find Related Articles | | den Hollander AI, van Lith-Verhoeven JJ, Arends ML, et al.
Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosa. [Journal Article, Research Support, Non-U.S. Gov't]
Arch Ophthalmol 2007 Jul; 125(7):932-5.
Abstract | Full Citation | Publisher Full Text | Find Related Articles | | Lines MA, Hébert M, McTaggart KE, et al.
Electrophysiologic and phenotypic features of an autosomal cone-rod dystrophy caused by a novel CRX mutation. [Journal Article]
Ophthalmology 2002 Oct; 109(10):1862-70.
Abstract | Full Citation | Find Related Articles | | Grover S, Fishman GA, Stone EM
A novel IMPDH1 mutation (Arg231Pro) in a family with a severe form of autosomal dominant retinitis pigmentosa. [Journal Article]
Ophthalmology 2004 Oct; 111(10):1910-6.
Abstract | Full Citation | Publisher Full Text | Find Related Articles |   |
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