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Items: 1 to 50 of 256

1.

Association of Vitamin A Supplementation With Disease Course in Children With Retinitis Pigmentosa.

Berson EL, Weigel-DiFranco C, Rosner B, Gaudio AR, Sandberg MA.

JAMA Ophthalmol. 2018 May 1;136(5):490-495. doi: 10.1001/jamaophthalmol.2018.0590.

2.

The risk of pedestrian collisions with peripheral visual field loss.

Peli E, Apfelbaum H, Berson EL, Goldstein RB.

J Vis. 2016 Dec 1;16(15):5. doi: 10.1167/16.15.5.

3.

Photoreceptor rescue by an abbreviated human RPGR gene in a murine model of X-linked retinitis pigmentosa.

Pawlyk BS, Bulgakov OV, Sun X, Adamian M, Shu X, Smith AJ, Berson EL, Ali RR, Khani S, Wright AF, Sandberg MA, Li T.

Gene Ther. 2016 Feb;23(2):196-204. doi: 10.1038/gt.2015.93. Epub 2015 Sep 8.

4.

Visual Function in Carriers of X-Linked Retinitis Pigmentosa.

Comander J, Weigel-DiFranco C, Sandberg MA, Berson EL.

Ophthalmology. 2015 Sep;122(9):1899-906. doi: 10.1016/j.ophtha.2015.05.039. Epub 2015 Jul 2.

5.

Targeted exon sequencing in Usher syndrome type I.

Bujakowska KM, Consugar M, Place E, Harper S, Lena J, Taub DG, White J, Navarro-Gomez D, Weigel DiFranco C, Farkas MH, Gai X, Berson EL, Pierce EA.

Invest Ophthalmol Vis Sci. 2014 Dec 2;55(12):8488-96. doi: 10.1167/iovs.14-15169.

6.

Two specific mutations are prevalent causes of recessive retinitis pigmentosa in North American patients of Jewish ancestry.

Venturini G, Koskiniemi-Kuendig H, Harper S, Berson EL, Rivolta C.

Genet Med. 2015 Apr;17(4):285-90. doi: 10.1038/gim.2014.132. Epub 2014 Sep 25.

PMID:
25255364
7.

The relationship of central foveal thickness to urinary iodine concentration in retinitis pigmentosa with or without cystoid macular edema.

Sandberg MA, Pearce EN, Harper S, Weigel-DiFranco C, Hart L, Rosner B, Berson EL.

JAMA Ophthalmol. 2014 Oct;132(10):1209-14. doi: 10.1001/jamaophthalmol.2014.1726.

8.

Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosa.

Benaglio P, San Jose PF, Avila-Fernandez A, Ascari G, Harper S, Manes G, Ayuso C, Hamel C, Berson EL, Rivolta C.

Mol Vis. 2014 Jun 18;20:843-51. eCollection 2014.

9.

Molecular genetics of FAM161A in North American patients with early-onset retinitis pigmentosa.

Venturini G, Di Gioia SA, Harper S, Weigel-DiFranco C, Rivolta C, Berson EL.

PLoS One. 2014 Mar 20;9(3):e92479. doi: 10.1371/journal.pone.0092479. eCollection 2014.

10.

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.

11.

Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations.

Mackay DS, Borman AD, Sui R, van den Born LI, Berson EL, Ocaka LA, Davidson AE, Heckenlively JR, Branham K, Ren H, Lopez I, Maria M, Azam M, Henkes A, Blokland E, Qamar R, Webster AR, Cremers FPM, Moore AT, Koenekoop RK; [LCA5 Study Group (see acknowledgements for Universities), Andreasson S, de Baere E, Bennett J, Chader GJ, Berger W, Golovleva I, Greenberg J, den Hollander AI, Klaver CCW, Klevering BJ, Lorenz B, Preising MN, Ramsear R, Roberts L, Roepman R, Rohrschneider K, Wissinger B.

Hum Mutat. 2013 Nov;34(11):1537-1546. doi: 10.1002/humu.22398. Epub 2013 Sep 17. Erratum in: Hum Mutat. 2014 Jan;35(1):149. Ramsear, Raj [corrected to Ramesar, Raj].

12.

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
13.

Spinocerebellar ataxia type 7: clinical course, phenotype-genotype correlations, and neuropathology.

Horton LC, Frosch MP, Vangel MG, Weigel-DiFranco C, Berson EL, Schmahmann JD.

Cerebellum. 2013 Apr;12(2):176-93. doi: 10.1007/s12311-012-0412-4.

14.

NMNAT1 mutations cause Leber congenital amaurosis.

Falk MJ, Zhang Q, Nakamaru-Ogiso E, Kannabiran C, Fonseca-Kelly Z, Chakarova C, Audo I, Mackay DS, Zeitz C, Borman AD, Staniszewska M, Shukla R, Palavalli L, Mohand-Said S, Waseem NH, Jalali S, Perin JC, Place E, Ostrovsky J, Xiao R, Bhattacharya SS, Consugar M, Webster AR, Sahel JA, Moore AT, Berson EL, Liu Q, Gai X, Pierce EA.

Nat Genet. 2012 Sep;44(9):1040-5. doi: 10.1038/ng.2361. Epub 2012 Jul 29.

15.

Genotype-phenotype correlations in Bardet-Biedl syndrome.

Daniels AB, Sandberg MA, Chen J, Weigel-DiFranco C, Fielding Hejtmancic J, Berson EL.

Arch Ophthalmol. 2012 Jul;130(7):901-7. doi: 10.1001/archophthalmol.2012.89.

PMID:
22410627
16.

ω-3 intake and visual acuity in patients with retinitis pigmentosa receiving vitamin A.

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

Arch Ophthalmol. 2012 Jun;130(6):707-11. doi: 10.1001/archophthalmol.2011.2580.

17.

Disease course of patients with unilateral pigmentary retinopathy.

Potsidis E, Berson EL, Sandberg MA.

Invest Ophthalmol Vis Sci. 2011 Nov 29;52(12):9244-9. doi: 10.1167/iovs.11-7892.

18.

Histopathology and functional correlations in a patient with a mutation in RPE65, the gene for retinol isomerase.

Bonilha VL, Rayborn ME, Li Y, Grossman GH, Berson EL, Hollyfield JG.

Invest Ophthalmol Vis Sci. 2011 Oct 28;52(11):8381-92. doi: 10.1167/iovs.11-7973.

19.

Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes.

Chen J, Smaoui N, Hammer MB, Jiao X, Riazuddin SA, Harper S, Katsanis N, Riazuddin S, Chaabouni H, Berson EL, Hejtmancik JF.

Invest Ophthalmol Vis Sci. 2011 Jul 18;52(8):5317-24. doi: 10.1167/iovs.11-7554.

20.

Next generation sequencing of pooled samples reveals new SNRNP200 mutations associated with retinitis pigmentosa.

Benaglio P, McGee TL, Capelli LP, Harper S, Berson EL, Rivolta C.

Hum Mutat. 2011 Jun;32(6):E2246-58. doi: 10.1002/humu.21485. Epub 2011 Feb 24.

PMID:
21618346
21.

A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosa.

Tanackovic G, Ransijn A, Ayuso C, Harper S, Berson EL, Rivolta C.

Am J Hum Genet. 2011 May 13;88(5):643-9. doi: 10.1016/j.ajhg.2011.04.008. Epub 2011 May 5.

22.

PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa.

Tanackovic G, Ransijn A, Thibault P, Abou Elela S, Klinck R, Berson EL, Chabot B, Rivolta C.

Hum Mol Genet. 2011 Jun 1;20(11):2116-30. doi: 10.1093/hmg/ddr094. Epub 2011 Mar 5.

23.

Lack of scientific rationale for use of valproic acid for retinitis pigmentosa.

Sandberg MA, Rosner B, Weigel-DiFranco C, Berson EL.

Br J Ophthalmol. 2011 May;95(5):744. doi: 10.1136/bjo.2010.198176. Epub 2010 Dec 3. No abstract available.

PMID:
21131379
24.

Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa.

McGee TL, Seyedahmadi BJ, Sweeney MO, Dryja TP, Berson EL.

J Med Genet. 2010 Jul;47(7):499-506. doi: 10.1136/jmg.2009.075143. Epub 2010 May 27.

25.

Extended wearing trial of Trifield lens device for 'tunnel vision'.

Woods RL, Giorgi RG, Berson EL, Peli E.

Ophthalmic Physiol Opt. 2010 May;30(3):240-52. doi: 10.1111/j.1475-1313.2010.00718.x.

26.

Clinical trial of lutein in patients with retinitis pigmentosa receiving vitamin A.

Berson EL, Rosner B, Sandberg MA, Weigel-DiFranco C, Brockhurst RJ, Hayes KC, Johnson EJ, Anderson EJ, Johnson CA, Gaudio AR, Willett WC, Schaefer EJ.

Arch Ophthalmol. 2010 Apr;128(4):403-11. doi: 10.1001/archophthalmol.2010.32.

27.

Replacement gene therapy with a human RPGRIP1 sequence slows photoreceptor degeneration in a murine model of Leber congenital amaurosis.

Pawlyk BS, Bulgakov OV, Liu X, Xu X, Adamian M, Sun X, Khani SC, Berson EL, Sandberg MA, Li T.

Hum Gene Ther. 2010 Aug;21(8):993-1004. doi: 10.1089/hum.2009.218.

28.

The relationship of macular pigment optical density to serum lutein in retinitis pigmentosa.

Sandberg MA, Johnson EJ, Berson EL.

Invest Ophthalmol Vis Sci. 2010 Feb;51(2):1086-91. doi: 10.1167/iovs.09-3396. Epub 2009 Sep 24.

29.

A single-base substitution within an intronic repetitive element causes dominant retinitis pigmentosa with reduced penetrance.

Rio Frio T, McGee TL, Wade NM, Iseli C, Beckmann JS, Berson EL, Rivolta C.

Hum Mutat. 2009 Sep;30(9):1340-7. doi: 10.1002/humu.21071.

30.

Search for a correlation between telomere length and severity of retinitis pigmentosa due to the dominant rhodopsin Pro23His mutation.

Hartong DT, McGee TL, Sandberg MA, Berson EL, Asselbergs FW, van der Harst P, De Vivo I, Dryja TP.

Mol Vis. 2009;15:592-7. Epub 2009 Mar 27.

31.

A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa.

den Hollander AI, McGee TL, Ziviello C, Banfi S, Dryja TP, Gonzalez-Fernandez F, Ghosh D, Berson EL.

Invest Ophthalmol Vis Sci. 2009 Apr;50(4):1864-72. doi: 10.1167/iovs.08-2497. Epub 2008 Dec 13.

32.

Progressive hydroxychloroquine toxicity mimicking low-tension glaucoma after discontinuation of the drug.

Vavvas D, Huynh N, Pasquale L, Berson EL.

Acta Ophthalmol. 2010 Feb;88(1):156-7. doi: 10.1111/j.1755-3768.2008.01359.x. Epub 2008 Oct 7. No abstract available.

33.

Insights from retinitis pigmentosa into the roles of isocitrate dehydrogenases in the Krebs cycle.

Hartong DT, Dange M, McGee TL, Berson EL, Dryja TP, Colman RF.

Nat Genet. 2008 Oct;40(10):1230-4. doi: 10.1038/ng.223. Epub 2008 Sep 21.

34.

Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene.

Sandberg MA, Rosner B, Weigel-DiFranco C, McGee TL, Dryja TP, Berson EL.

Invest Ophthalmol Vis Sci. 2008 Dec;49(12):5532-9. doi: 10.1167/iovs.08-2009. Epub 2008 Jul 18.

35.

Visual acuity is related to parafoveal retinal thickness in patients with retinitis pigmentosa and macular cysts.

Sandberg MA, Brockhurst RJ, Gaudio AR, Berson EL.

Invest Ophthalmol Vis Sci. 2008 Oct;49(10):4568-72. doi: 10.1167/iovs.08-1992. Epub 2008 Jun 14.

36.

Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay.

Rio Frio T, Wade NM, Ransijn A, Berson EL, Beckmann JS, Rivolta C.

J Clin Invest. 2008 Apr;118(4):1519-31. doi: 10.1172/JCI34211.

37.

Retinal degenerations: planning for the future.

Berson EL.

Adv Exp Med Biol. 2008;613:21-35. doi: 10.1007/978-0-387-74904-4_2. No abstract available.

PMID:
18188925
38.

Novel mutations in the KCNV2 gene in patients with cone dystrophy and a supernormal rod electroretinogram.

Thiagalingam S, McGee TL, Weleber RG, Sandberg MA, Trzupek KM, Berson EL, Dryja TP.

Ophthalmic Genet. 2007 Sep;28(3):135-42. Erratum in: Ophthalmic Genet. 2007 Dec;28(4):231.

PMID:
17896311
39.
41.

Disease course of patients with X-linked retinitis pigmentosa due to RPGR gene mutations.

Sandberg MA, Rosner B, Weigel-DiFranco C, Dryja TP, Berson EL.

Invest Ophthalmol Vis Sci. 2007 Mar;48(3):1298-304.

PMID:
17325176
43.

A screen for mutations in the transducin gene GNB1 in patients with autosomal dominant retinitis pigmentosa.

Mylvaganam GH, McGee TL, Berson EL, Dryja TP.

Mol Vis. 2006 Dec 4;12:1496-8.

44.

Retinitis pigmentosa.

Hartong DT, Berson EL, Dryja TP.

Lancet. 2006 Nov 18;368(9549):1795-809. Review.

PMID:
17113430
45.
46.

Variation in retinitis pigmentosa-11 (PRPF31 or RP11) gene expression between symptomatic and asymptomatic patients with dominant RP11 mutations.

Rivolta C, McGee TL, Rio Frio T, Jensen RV, Berson EL, Dryja TP.

Hum Mutat. 2006 Jul;27(7):644-53.

PMID:
16708387
47.

Natural course of ocular function in pigmented paravenous retinochoroidal atrophy.

Choi JY, Sandberg MA, Berson EL.

Am J Ophthalmol. 2006 Apr;141(4):763-5.

PMID:
16564825
48.

The association between visual acuity and central retinal thickness in retinitis pigmentosa.

Sandberg MA, Brockhurst RJ, Gaudio AR, Berson EL.

Invest Ophthalmol Vis Sci. 2005 Sep;46(9):3349-54.

PMID:
16123439
49.

Histopathologic-genotypic correlations in retinitis pigmentosa and allied diseases.

Ben-Arie-Weintrob Y, Berson EL, Dryja TP.

Ophthalmic Genet. 2005 Jun;26(2):91-100.

PMID:
16020312
50.

Disease course of patients with pericentral retinitis pigmentosa.

Sandberg MA, Gaudio AR, Berson EL.

Am J Ophthalmol. 2005 Jul;140(1):100-6.

PMID:
15953579

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