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Results: 1 to 20 of 369

Select item 234864661.

Secretory defect and cytotoxicity: the potential disease mechanisms for the retinitis pigmentosa (RP)-associated interphotoreceptor retinoid-binding protein (IRBP).

Li S, Yang Z, Hu J, Gordon WC, Bazan NG, Haas AL, Bok D, Jin M.

J Biol Chem. 2013 Apr 19;288(16):11395-406. doi: 10.1074/jbc.M112.418251. Epub 2013 Mar 13.

PMID:: 23486466; [PubMed - indexed for MEDLINE]

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Select item 234119062.

ω-3 Intake in patients with retinitis pigmentosa receiving vitamin A-Reply.

Berson EL, Rosner B, Sandberg MA, Weigel-Difranco C, Willett WC.

JAMA Ophthalmol. 2013 Feb;131(2):267-8. doi: 10.1001/jamaophthalmol.2013.1722. No abstract available.

PMID:: 23411906; [PubMed - indexed for MEDLINE]

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Select item 234119053.

ω-3 Intake in patients with retinitis pigmentosa receiving vitamin A.

Seigel D, Richoz O.

JAMA Ophthalmol. 2013 Feb;131(2):267-8. doi: 10.1001/jamaophthalmol.2013.590. No abstract available.

PMID:: 23411905; [PubMed - indexed for MEDLINE]

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Select item 234028914.

Rhodopsin p.N78I dominant mutation causing sectorial retinitis pigmentosa in a pedigree with intrafamilial clinical heterogeneity.

Rivera-De la Parra D, Cabral-Macias J, Matias-Florentino M, Rodriguez-Ruiz G, Robredo V, Zenteno JC.

Gene. 2013 Apr 25;519(1):173-6. doi: 10.1016/j.gene.2013.01.048. Epub 2013 Feb 9.

PMID:: 23402891; [PubMed - indexed for MEDLINE]

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Select item 233866085.

Dynamics of the rhomboid-like protein RHBDD2 expression in mouse retina and involvement of its human ortholog in retinitis pigmentosa.

Ahmedli NB, Gribanova Y, Njoku CC, Naidu A, Young A, Mendoza E, Yamashita CK, Ozgül RK, Johnson JE, Fox DA, Farber DB.

J Biol Chem. 2013 Apr 5;288(14):9742-54. doi: 10.1074/jbc.M112.419960. Epub 2013 Feb 5.

PMID:: 23386608; [PubMed - indexed for MEDLINE]

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Select item 233720566.

Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa.

Churchill JD, Bowne SJ, Sullivan LS, Lewis RA, Wheaton DK, Birch DG, Branham KE, Heckenlively JR, Daiger SP.

Invest Ophthalmol Vis Sci. 2013 Feb 19;54(2):1411-6. doi: 10.1167/iovs.12-11541.

PMID:: 23372056; [PubMed - indexed for MEDLINE]

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Select item 233296647.

Correlations between spectral-domain OCT measurements and visual acuity in cystoid macular edema associated with retinitis pigmentosa.

Kim YJ, Joe SG, Lee DH, Lee JY, Kim JG, Yoon YH.

Invest Ophthalmol Vis Sci. 2013 Feb 1;54(2):1303-9. doi: 10.1167/iovs.12-10149.

PMID:: 23329664; [PubMed - indexed for MEDLINE]

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Select item 232889948.

Novel PRPF31 mutations associated with Chinese autosomal dominant retinitis pigmentosa patients.

Xu F, Sui R, Liang X, Li H, Jiang R, Dong F.

Mol Vis. 2012;18:3021-xxx. Epub 2012 Dec 14.

PMID:: 23288994; [PubMed - indexed for MEDLINE]

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Select item 232889939.

Identification of two mutations of the RHO gene in two Chinese families with retinitis pigmentosa: correlation between genotype and phenotype.

Pan Z, Lu T, Zhang X, Dai H, Yan W, Bai F, Li Y.

Mol Vis. 2012;18:3013-20. Epub 2012 Dec 14.

PMID:: 23288993; [PubMed - indexed for MEDLINE]

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Select item 2328779310.

Comparison of near-infrared and short-wavelength autofluorescence in retinitis pigmentosa.

Duncker T, Tabacaru MR, Lee W, Tsang SH, Sparrow JR, Greenstein VC.

Invest Ophthalmol Vis Sci. 2013 Jan 17;54(1):585-91. doi: 10.1167/iovs.12-11176.

PMID:: 23287793; [PubMed - indexed for MEDLINE]

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Select item 2326662311.

A novel mitochondrial mutation m.8989G>C associated with neuropathy, ataxia, retinitis pigmentosa - the NARP syndrome.

Duno M, Wibrand F, Baggesen K, Rosenberg T, Kjaer N, Frederiksen AL.

Gene. 2013 Feb 25;515(2):372-5. doi: 10.1016/j.gene.2012.12.066. Epub 2012 Dec 20.

PMID:: 23266623; [PubMed - indexed for MEDLINE]

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Select item 2325157812.

Exome sequencing identifies a founder frameshift mutation in an alternative exon of USH1C as the cause of autosomal recessive retinitis pigmentosa with late-onset hearing loss.

Khateb S, Zelinger L, Ben-Yosef T, Merin S, Crystal-Shalit O, Gross M, Banin E, Sharon D.

PLoS One. 2012;7(12):e51566. doi: 10.1371/journal.pone.0051566. Epub 2012 Dec 12.

PMID:: 23251578; [PubMed - indexed for MEDLINE]

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Select item 2322134013.

Autosomal recessive retinitis pigmentosa E150K opsin mice exhibit photoreceptor disorganization.

Zhang N, Kolesnikov AV, Jastrzebska B, Mustafi D, Sawada O, Maeda T, Genoud C, Engel A, Kefalov VJ, Palczewski K.

J Clin Invest. 2013 Jan 2;123(1):121-37. doi: 10.1172/JCI66176. Epub 2012 Dec 10.

PMID:: 23221340; [PubMed - indexed for MEDLINE]

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Select item 2321220514.

Worse-than-usual visual fields measured in retinitis pigmentosa related to episodically decreased general health.

Bittner AK, Haythornthwaite JA, Diener-West M, Dagnelie G.

Br J Ophthalmol. 2013 Feb;97(2):145-8. doi: 10.1136/bjophthalmol-2012-302116. Epub 2012 Dec 4.

PMID:: 23212205; [PubMed - indexed for MEDLINE]

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Select item 2317287715.

Photoreceptor impairment on optical coherence tomographic images in patients with retinitis pigmentosa.

Hagiwara A, Mitamura Y, Kumagai K, Baba T, Yamamoto S.

Br J Ophthalmol. 2013 Feb;97(2):237-8. doi: 10.1136/bjophthalmol-2012-302510. Epub 2012 Nov 21. No abstract available.

PMID:: 23172877; [PubMed - indexed for MEDLINE]

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Select item 2314463016.

CNOT3 is a modifier of PRPF31 mutations in retinitis pigmentosa with incomplete penetrance.

Venturini G, Rose AM, Shah AZ, Bhattacharya SS, Rivolta C.

PLoS Genet. 2012;8(11):e1003040. doi: 10.1371/journal.pgen.1003040. Epub 2012 Nov 8.

PMID:: 23144630; [PubMed - indexed for MEDLINE]

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Select item 2314344217.

BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome.

Estrada-Cuzcano A, Koenekoop RK, Senechal A, De Baere EB, de Ravel T, Banfi S, Kohl S, Ayuso C, Sharon D, Hoyng CB, Hamel CP, Leroy BP, Ziviello C, Lopez I, Bazinet A, Wissinger B, Sliesoraityte I, Avila-Fernandez A, Littink KW, Vingolo EM, Signorini S, Banin E, Mizrahi-Meissonnier L, Zrenner E, Kellner U, Collin RW, den Hollander AI, Cremers FP, Klevering BJ.

Arch Ophthalmol. 2012 Nov;130(11):1425-32. doi: 10.1001/archophthalmol.2012.2434.

PMID:: 23143442; [PubMed - indexed for MEDLINE]

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Select item 2311161218.

Long-term decline of central cone function in retinitis pigmentosa evaluated by focal electroretinogram.

Falsini B, Galli-Resta L, Fadda A, Ziccardi L, Piccardi M, Iarossi G, Resta G.

Invest Ophthalmol Vis Sci. 2012 Nov 19;53(12):7701-9. doi: 10.1167/iovs.12-11017.

PMID:: 23111612; [PubMed - indexed for MEDLINE]

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Select item 2309361719.

Evaluation of choroidal thickness in retinitis pigmentosa using enhanced depth imaging optical coherence tomography.

Dhoot DS, Huo S, Yuan A, Xu D, Srivistava S, Ehlers JP, Traboulsi E, Kaiser PK.

Br J Ophthalmol. 2013 Jan;97(1):66-9. doi: 10.1136/bjophthalmol-2012-301917. Epub 2012 Oct 23.

PMID:: 23093617; [PubMed - indexed for MEDLINE]

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Select item 2307740620.

Gene therapy in animal models of autosomal dominant retinitis pigmentosa.

Rossmiller B, Mao H, Lewin AS.

Mol Vis. 2012;18:2479-96. Epub 2012 Oct 6. Review.

PMID:: 23077406; [PubMed - indexed for MEDLINE]

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147 free full-text articles in PubMed Central

Secretory defect and cytotoxicity: the potential disease mechanisms for the retinitis pigmentosa (RP)-associated interphotoreceptor retinoid-binding protein (IRBP). [J Biol Chem. 2013]
Secretory defect and cytotoxicity: the potential disease mechanisms for the retinitis pigmentosa (RP)-associated interphotoreceptor retinoid-binding protein (IRBP).
Li S, Yang Z, Hu J, Gordon WC, Bazan NG, Haas AL, Bok D, Jin M. J Biol Chem. 2013 Apr 19; 288(16):11395-406. Epub 2013 Mar 13.
Novel PRPF31 mutations associated with Chinese autosomal dominant retinitis pigmentosa patients. [Mol Vis. 2012]
Novel PRPF31 mutations associated with Chinese autosomal dominant retinitis pigmentosa patients.
Xu F, Sui R, Liang X, Li H, Jiang R, Dong F. Mol Vis. 2012; 18:3021-xxx. Epub 2012 Dec 14.
Identification of two mutations of the RHO gene in two Chinese families with retinitis pigmentosa: correlation between genotype and phenotype. [Mol Vis. 2012]
Identification of two mutations of the RHO gene in two Chinese families with retinitis pigmentosa: correlation between genotype and phenotype.
Pan Z, Lu T, Zhang X, Dai H, Yan W, Bai F, Li Y. Mol Vis. 2012; 18:3013-20. Epub 2012 Dec 14.

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