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Results: 1 to 20 of 396

1.

Genetic high throughput screening in Retinitis Pigmentosa based on high resolution melting (HRM) analysis.

Anasagasti A, Barandika O, Irigoyen C, Benitez BA, Cooper B, Cruchaga C, López de Munain A, Ruiz-Ederra J.

Exp Eye Res. 2013 Nov;116:386-94.

PMID:
24416769
[PubMed - indexed for MEDLINE]
2.

Vitamin A and fish oils for retinitis pigmentosa.

Rayapudi S, Schwartz SG, Wang X, Chavis P.

Cochrane Database Syst Rev. 2013 Dec 19;12:CD008428. doi: 10.1002/14651858.CD008428.pub2. Review.

PMID:
24357340
[PubMed - indexed for MEDLINE]
3.

Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa.

Méndez-Vidal C, González-Del Pozo M, Vela-Boza A, Santoyo-López J, López-Domingo FJ, Vázquez-Marouschek C, Dopazo J, Borrego S, Antiñolo G.

Mol Vis. 2013 Nov 7;19:2187-95. eCollection 2013.

PMID:
24227914
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements.

Wang F, Wang H, Tuan HF, Nguyen DH, Sun V, Keser V, Bowne SJ, Sullivan LS, Luo H, Zhao L, Wang X, Zaneveld JE, Salvo JS, Siddiqui S, Mao L, Wheaton DK, Birch DG, Branham KE, Heckenlively JR, Wen C, Flagg K, Ferreyra H, Pei J, Khan A, Ren H, Wang K, Lopez I, Qamar R, Zenteno JC, Ayala-Ramirez R, Buentello-Volante B, Fu Q, Simpson DA, Li Y, Sui R, Silvestri G, Daiger SP, Koenekoop RK, Zhang K, Chen R.

Hum Genet. 2014 Mar;133(3):331-45. doi: 10.1007/s00439-013-1381-5. Epub 2013 Oct 24.

PMID:
24154662
[PubMed - indexed for MEDLINE]
5.

Involvement of LCA5 in Leber congenital amaurosis and retinitis pigmentosa in the Spanish population.

Corton M, Avila-Fernandez A, Vallespín E, López-Molina MI, Almoguera B, Martín-Garrido E, Tatu SD, Khan MI, Blanco-Kelly F, Riveiro-Alvarez R, Brión M, García-Sandoval B, Cremers FP, Carracedo A, Ayuso C.

Ophthalmology. 2014 Jan;121(1):399-407. doi: 10.1016/j.ophtha.2013.08.028. Epub 2013 Oct 18.

PMID:
24144451
[PubMed - indexed for MEDLINE]
6.

Retinitis pigmentosa mutants provide insight into the role of the N-terminal cap in rhodopsin folding, structure, and function.

Opefi CA, South K, Reynolds CA, Smith SO, Reeves PJ.

J Biol Chem. 2013 Nov 22;288(47):33912-26. doi: 10.1074/jbc.M113.483032. Epub 2013 Oct 8.

PMID:
24106275
[PubMed - indexed for MEDLINE]
7.

Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosa.

Siemiatkowska AM, van den Born LI, van Hagen PM, Stoffels M, Neveling K, Henkes A, Kipping-Geertsema M, Hoefsloot LH, Hoyng CB, Simon A, den Hollander AI, Cremers FP, Collin RW.

Ophthalmology. 2013 Dec;120(12):2697-705. doi: 10.1016/j.ophtha.2013.07.052. Epub 2013 Sep 29.

PMID:
24084495
[PubMed - indexed for MEDLINE]
8.

Distinct characteristics of inferonasal fundus autofluorescence patterns in stargardt disease and retinitis pigmentosa.

Duncker T, Lee W, Tsang SH, Greenberg JP, Zernant J, Allikmets R, Sparrow JR.

Invest Ophthalmol Vis Sci. 2013 Oct 17;54(10):6820-6. doi: 10.1167/iovs.13-12895.

PMID:
24071957
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene.

Nishiguchi KM, Tearle RG, Liu YP, Oh EC, Miyake N, Benaglio P, Harper S, Koskiniemi-Kuendig H, Venturini G, Sharon D, Koenekoop RK, Nakamura M, Kondo M, Ueno S, Yasuma TR, Beckmann JS, Ikegawa S, Matsumoto N, Terasaki H, Berson EL, Katsanis N, Rivolta C.

Proc Natl Acad Sci U S A. 2013 Oct 1;110(40):16139-44. doi: 10.1073/pnas.1308243110. Epub 2013 Sep 16.

PMID:
24043777
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Spectral domain optical coherence tomography findings in patients with retinitis pigmentosa.

Triolo G, Pierro L, Parodi MB, De Benedetto U, Gagliardi M, Manitto MP, Bandello F.

Ophthalmic Res. 2013;50(3):160-4. doi: 10.1159/000351681. Epub 2013 Aug 28.

PMID:
23989166
[PubMed - indexed for MEDLINE]
11.

Prevalence of mutations in eyeGENE probands with a diagnosis of autosomal dominant retinitis pigmentosa.

Sullivan LS, Bowne SJ, Reeves MJ, Blain D, Goetz K, Ndifor V, Vitez S, Wang X, Tumminia SJ, Daiger SP.

Invest Ophthalmol Vis Sci. 2013 Sep 19;54(9):6255-61. doi: 10.1167/iovs.13-12605.

PMID:
23950152
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Rationale for an experimental treatment of retinitis pigmentosa: 140-month test of hypothesis with one patient.

Baumgartner WA, Baumgartner AM.

Med Hypotheses. 2013 Oct;81(4):720-8. doi: 10.1016/j.mehy.2013.07.036. Epub 2013 Aug 12.

PMID:
23948599
[PubMed - indexed for MEDLINE]
13.

The severe autosomal dominant retinitis pigmentosa rhodopsin mutant Ter349Glu mislocalizes and induces rapid rod cell death.

Hollingsworth TJ, Gross AK.

J Biol Chem. 2013 Oct 4;288(40):29047-55. doi: 10.1074/jbc.M113.495184. Epub 2013 Aug 12.

PMID:
23940033
[PubMed - indexed for MEDLINE]
14.

A historical perspective on the early treatment of night blindness and the use of dubious and unproven treatment strategies for patients with retinitis pigmentosa.

Fishman GA.

Surv Ophthalmol. 2013 Nov-Dec;58(6):652-63. doi: 10.1016/j.survophthal.2013.04.002. Epub 2013 Aug 1.

PMID:
23911150
[PubMed - indexed for MEDLINE]
15.

Exome sequencing identifies RDH12 compound heterozygous mutations in a family with severe retinitis pigmentosa.

Chacon-Camacho OF, Jitskii S, Buentello-Volante B, Quevedo-Martinez J, Zenteno JC.

Gene. 2013 Oct 10;528(2):178-82. doi: 10.1016/j.gene.2013.07.021. Epub 2013 Jul 27.

PMID:
23900199
[PubMed - indexed for MEDLINE]
16.

Contribution of SNRNP200 sequence variations to retinitis pigmentosa.

Zhang X, Lai TY, Chiang SW, Tam PO, Liu DT, Chan CK, Pang CP, Zhao C, Chen LJ.

Eye (Lond). 2013 Oct;27(10):1204-13. doi: 10.1038/eye.2013.137. Epub 2013 Jul 26.

PMID:
23887765
[PubMed - indexed for MEDLINE]
17.

Genetic heterogeneity and consanguinity lead to a "double hit": homozygous mutations of MYO7A and PDE6B in a patient with retinitis pigmentosa.

Goldenberg-Cohen N, Banin E, Zalzstein Y, Cohen B, Rotenstreich Y, Rizel L, Basel-Vanagaite L, Ben-Yosef T.

Mol Vis. 2013 Jul 20;19:1565-71. Print 2013.

PMID:
23882135
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

A case of CRB1-negative Coats-like retinitis pigmentosa.

Sarao V, Veritti D, Prosperi R, Pignatto S, Lanzetta P.

J AAPOS. 2013 Aug;17(4):414-6. doi: 10.1016/j.jaapos.2013.02.010. Epub 2013 Jul 18.

PMID:
23871396
[PubMed - indexed for MEDLINE]
19.

Mutations in ARL2BP, encoding ADP-ribosylation-factor-like 2 binding protein, cause autosomal-recessive retinitis pigmentosa.

Davidson AE, Schwarz N, Zelinger L, Stern-Schneider G, Shoemark A, Spitzbarth B, Gross M, Laxer U, Sosna J, Sergouniotis PI, Waseem NH, Wilson R, Kahn RA, Plagnol V, Wolfrum U, Banin E, Hardcastle AJ, Cheetham ME, Sharon D, Webster AR.

Am J Hum Genet. 2013 Aug 8;93(2):321-9. doi: 10.1016/j.ajhg.2013.06.003. Epub 2013 Jul 11.

PMID:
23849777
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.

Wang X, Wang H, Sun V, Tuan HF, Keser V, Wang K, Ren H, Lopez I, Zaneveld JE, Siddiqui S, Bowles S, Khan A, Salvo J, Jacobson SG, Iannaccone A, Wang F, Birch D, Heckenlively JR, Fishman GA, Traboulsi EI, Li Y, Wheaton D, Koenekoop RK, Chen R.

J Med Genet. 2013 Oct;50(10):674-88. doi: 10.1136/jmedgenet-2013-101558. Epub 2013 Jul 11.

PMID:
23847139
[PubMed - indexed for MEDLINE]
Free PMC Article

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