Search | Virtual Health Library

1.

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

Nishiguchi, Koji M; Tearle, Richard G; Liu, Yangfan P; Oh, Edwin C; Miyake, Noriko; Benaglio, Paola; Harper, Shyana; Koskiniemi-Kuendig, Hanna; Venturini, Giulia; Sharon, Dror; Koenekoop, Robert K; Nakamura, Makoto; Kondo, Mineo; Ueno, Shinji; Yasuma, Tetsuhiro R; Beckmann, Jacques S; Ikegawa, Shiro; Matsumoto, Naomichi; Terasaki, Hiroko; Berson, Eliot L; Katsanis, Nicholas; Rivolta, Carlo.

Proc Natl Acad Sci U S A ; 110(40): 16139-44, 2013 Oct 01.

Article in English | MEDLINE | ID: mdl-24043777

2.

The risk of pedestrian collisions with peripheral visual field loss.

Peli, Eli; Apfelbaum, Henry; Berson, Eliot L; Goldstein, Robert B.

J Vis ; 16(15): 5, 2016 12 01.

Article in English | MEDLINE | ID: mdl-27919101

3.

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

Venturini, Giulia; Koskiniemi-Kuendig, Hanna; Harper, Shyana; Berson, Eliot L; Rivolta, Carlo.

Genet Med ; 17(4): 285-90, 2015 Apr.

Article in English | MEDLINE | ID: mdl-25255364

4.

Visual Function in Carriers of X-Linked Retinitis Pigmentosa.

Comander, Jason; Weigel-DiFranco, Carol; Sandberg, Michael A; Berson, Eliot L.

Ophthalmology ; 122(9): 1899-906, 2015 Sep.

Article in English | MEDLINE | ID: mdl-26143542

5.

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

Tanackovic, Goranka; Ransijn, Adriana; Ayuso, Carmen; Harper, Shyana; Berson, Eliot L; Rivolta, Carlo.

Am J Hum Genet ; 88(5): 643-9, 2011 May 13.

Article in English | MEDLINE | ID: mdl-21549338

6.

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

Benaglio, Paola; San Jose, Patricia Fernandez; Avila-Fernandez, Almudena; Ascari, Giulia; Harper, Shyana; Manes, Gaël; Ayuso, Carmen; Hamel, Christian; Berson, Eliot L; Rivolta, Carlo.

Mol Vis ; 20: 843-51, 2014.

Article in English | MEDLINE | ID: mdl-24959063

7.

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

Mackay, Donna S; Borman, Arundhati Dev; Sui, Ruifang; van den Born, L Ingeborgh; Berson, Eliot L; Ocaka, Louise A; Davidson, Alice E; Heckenlively, John R; Branham, Kari; Ren, Huanan; Lopez, Irma; Maria, Maleeha; Azam, Maleeha; Henkes, Arjen; Blokland, Ellen; Qamar, Raheel; Webster, Andrew R; Cremers, Frans P M; Moore, Anthony T; Koenekoop, Robert K; Andreasson, Sten; de Baere, Elfride; Bennett, Jean; Chader, Gerald J; Berger, Wolfgang; Golovleva, Irina; Greenberg, Jacquie; den Hollander, Anneke I; Klaver, Caroline C W; Klevering, B Jeroen; Lorenz, Birgit; Preising, Markus N; Ramsear, Raj; Roberts, Lisa; Roepman, Ronald; Rohrschneider, Klaus; Wissinger, Bernd.

Hum Mutat ; 34(11): 1537-1546, 2013 Nov.

Article in English | MEDLINE | ID: mdl-23946133

8.

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

Tanackovic, Goranka; Ransijn, Adriana; Thibault, Philippe; Abou Elela, Sherif; Klinck, Roscoe; Berson, Eliot L; Chabot, Benoit; Rivolta, Carlo.

Hum Mol Genet ; 20(11): 2116-30, 2011 Jun 01.

Article in English | MEDLINE | ID: mdl-21378395

9.

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

Horton, Laura C; Frosch, Matthew P; Vangel, Mark G; Weigel-DiFranco, Carol; Berson, Eliot L; Schmahmann, Jeremy D.

Cerebellum ; 12(2): 176-93, 2013 Apr.

Article in English | MEDLINE | ID: mdl-22915085

10.

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

Benaglio, Paola; McGee, Terri L; Capelli, Leonardo P; Harper, Shyana; Berson, Eliot L; Rivolta, Carlo.

Hum Mutat ; 32(6): E2246-58, 2011 Jun.

Article in English | MEDLINE | ID: mdl-21618346

11.

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

Rio Frio, Thomas; Wade, Nicholas M; Ransijn, Adriana; Berson, Eliot L; Beckmann, Jacques S; Rivolta, Carlo.

J Clin Invest ; 118(4): 1519-31, 2008 Apr.

Article in English | MEDLINE | ID: mdl-18317597

12.

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

McGee, Terri L; Seyedahmadi, Babak Jian; Sweeney, Meredith O; Dryja, Thaddeus P; Berson, Eliot L.

J Med Genet ; 47(7): 499-506, 2010 Jul.

Article in English | MEDLINE | ID: mdl-20507924

13.

Defects in RGS9 or its anchor protein R9AP in patients with slow photoreceptor deactivation.

Nishiguchi, Koji M; Sandberg, Michael A; Kooijman, Aart C; Martemyanov, Kirill A; Pott, Jan W R; Hagstrom, Stephanie A; Arshavsky, Vadim Y; Berson, Eliot L; Dryja, Thaddeus P.

Nature ; 427(6969): 75-8, 2004 Jan 01.

Article in English | MEDLINE | ID: mdl-14702087

14.

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

Woods, Russell L; Giorgi, Robert G; Berson, Eliot L; Peli, Eli.

Ophthalmic Physiol Opt ; 30(3): 240-52, 2010 May.

Article in English | MEDLINE | ID: mdl-20444130

15.

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

Rio Frio, Thomas; McGee, Terri L; Wade, Nicholas M; Iseli, Christian; Beckmann, Jacques S; Berson, Eliot L; Rivolta, Carlo.

Hum Mutat ; 30(9): 1340-7, 2009 Sep.

Article in English | MEDLINE | ID: mdl-19618371

16.

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

Hartong, Dyonne T; McGee, Terri L; Sandberg, Michael A; Berson, Eliot L; Asselbergs, Folkert W; van der Harst, Pim; De Vivo, Immaculata; Dryja, Thaddeus P.

Mol Vis ; 15: 592-7, 2009.

Article in English | MEDLINE | ID: mdl-19325938

17.

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

Berson, Eliot L; Weigel-DiFranco, Carol; Rosner, Bernard; Gaudio, Alexander R; Sandberg, Michael A.

JAMA Ophthalmol ; 136(5): 490-495, 2018 05 01.

Article in English | MEDLINE | ID: mdl-29596553

18.

Retinitis pigmentosa.

Hartong, Dyonne T; Berson, Eliot L; Dryja, Thaddeus P.

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

Article in English | MEDLINE | ID: mdl-17113430

19.

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

Sandberg, Michael A; Rosner, Bernard; Weigel-DiFranco, Carol; Dryja, Thaddeus P; Berson, Eliot L.

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

Article in English | MEDLINE | ID: mdl-17325176

20.

Low prevalence of lecithin retinol acyltransferase mutations in patients with Leber congenital amaurosis and autosomal recessive retinitis pigmentosa.

Sweeney, Meredith O; McGee, Terri L; Berson, Eliot L; Dryja, Thaddeus P.

Mol Vis ; 13: 588-93, 2007 Apr 05.

Article in English | MEDLINE | ID: mdl-17438524

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