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Items: 1 to 20 of 126

1.

Targeted high-throughput DNA sequencing for gene discovery in retinitis pigmentosa.

Daiger SP, Sullivan LS, Bowne SJ, Birch DG, Heckenlively JR, Pierce EA, Weinstock GM.

Adv Exp Med Biol. 2010;664:325-31. doi: 10.1007/978-1-4419-1399-9_37.

2.

Application of next-generation sequencing to identify genes and mutations causing autosomal dominant retinitis pigmentosa (adRP).

Daiger SP, Bowne SJ, Sullivan LS, Blanton SH, Weinstock GM, Koboldt DC, Fulton RS, Larsen D, Humphries P, Humphries MM, Pierce EA, Chen R, Li Y.

Adv Exp Med Biol. 2014;801:123-9. doi: 10.1007/978-1-4614-3209-8_16.

3.

Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa.

Wang J, Zhang VW, Feng Y, Tian X, Li FY, Truong C, Wang G, Chiang PW, Lewis RA, Wong LJ.

Invest Ophthalmol Vis Sci. 2014 Aug 5;55(10):6213-23. doi: 10.1167/iovs.14-14936.

PMID:
25097241
4.

Genes and mutations causing retinitis pigmentosa.

Daiger SP, Sullivan LS, Bowne SJ.

Clin Genet. 2013 Aug;84(2):132-41. doi: 10.1111/cge.12203. Epub 2013 Jun 19. Review.

5.

Mutation screening of multiple genes in Spanish patients with autosomal recessive retinitis pigmentosa by targeted resequencing.

González-del Pozo M, Borrego S, Barragán I, Pieras JI, Santoyo J, Matamala N, Naranjo B, Dopazo J, Antiñolo G.

PLoS One. 2011;6(12):e27894. doi: 10.1371/journal.pone.0027894. Epub 2011 Dec 2.

6.

Comprehensive molecular diagnosis of a large cohort of Japanese retinitis pigmentosa and Usher syndrome patients by next-generation sequencing.

Oishi M, Oishi A, Gotoh N, Ogino K, Higasa K, Iida K, Makiyama Y, Morooka S, Matsuda F, Yoshimura N.

Invest Ophthalmol Vis Sci. 2014 Oct 16;55(11):7369-75. doi: 10.1167/iovs.14-15458.

PMID:
25324289
7.

Detection of novel genetic variation in autosomal dominant retinitis pigmentosa.

Borràs E, de Sousa Dias M, Hernan I, Pascual B, Mañé B, Gamundi MJ, Delás B, Carballo M.

Clin Genet. 2013 Nov;84(5):441-52. doi: 10.1111/cge.12151. Epub 2013 Apr 15.

PMID:
23534816
8.

Identification of disease-causing mutations in autosomal dominant retinitis pigmentosa (adRP) using next-generation DNA sequencing.

Bowne SJ, Sullivan LS, Koboldt DC, Ding L, Fulton R, Abbott RM, Sodergren EJ, Birch DG, Wheaton DH, Heckenlively JR, Liu Q, Pierce EA, Weinstock GM, Daiger SP.

Invest Ophthalmol Vis Sci. 2011 Jan 25;52(1):494-503. doi: 10.1167/iovs.10-6180.

9.

Detection of novel mutations that cause autosomal dominant retinitis pigmentosa in candidate genes by long-range PCR amplification and next-generation sequencing.

de Sousa Dias M, Hernan I, Pascual B, Borràs E, Mañé B, Gamundi MJ, Carballo M.

Mol Vis. 2013;19:654-64. Epub 2013 Mar 21.

10.

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
11.

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.

12.

Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa.

Clark GR, Crowe P, Muszynska D, O'Prey D, O'Neill J, Alexander S, Willoughby CE, McKay GJ, Silvestri G, Simpson DA.

Ophthalmology. 2010 Nov;117(11):2169-77.e3. doi: 10.1016/j.ophtha.2010.02.029. Epub 2010 Jun 29.

PMID:
20591486
13.

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.

14.

Targeted Next-Generation Sequencing Improves the Diagnosis of Autosomal Dominant Retinitis Pigmentosa in Spanish Patients.

Fernandez-San Jose P, Corton M, Blanco-Kelly F, Avila-Fernandez A, Lopez-Martinez MA, Sanchez-Navarro I, Sanchez-Alcudia R, Perez-Carro R, Zurita O, Sanchez-Bolivar N, Lopez-Molina MI, Garcia-Sandoval B, Riveiro-Alvarez R, Ayuso C.

Invest Ophthalmol Vis Sci. 2015 Apr;56(4):2173-82. doi: 10.1167/iovs.14-16178.

PMID:
25698705
15.

Identification of mutations causing inherited retinal degenerations in the israeli and palestinian populations using homozygosity mapping.

Beryozkin A, Zelinger L, Bandah-Rozenfeld D, Shevach E, Harel A, Storm T, Sagi M, Eli D, Merin S, Banin E, Sharon D.

Invest Ophthalmol Vis Sci. 2014 Feb 24;55(2):1149-60. doi: 10.1167/iovs.13-13625.

PMID:
24474277
16.

Comprehensive SNP-chip for retinitis pigmentosa-Leber congenital amaurosis diagnosis: new mutations and detection of mutational founder effects.

Pomares E, Riera M, Permanyer J, Méndez P, Castro-Navarro J, Andrés-Gutiérrez A, Marfany G, Gonzàlez-Duarte R.

Eur J Hum Genet. 2010 Jan;18(1):118-24. doi: 10.1038/ejhg.2009.114. Epub .

17.

Current mutation discovery approaches in Retinitis Pigmentosa.

Anasagasti A, Irigoyen C, Barandika O, López de Munain A, Ruiz-Ederra J.

Vision Res. 2012 Dec 15;75:117-29. doi: 10.1016/j.visres.2012.09.012. Epub 2012 Sep 27. Review.

18.

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.

19.

WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome.

Coussa RG, Otto EA, Gee HY, Arthurs P, Ren H, Lopez I, Keser V, Fu Q, Faingold R, Khan A, Schwartzentruber J, Majewski J, Hildebrandt F, Koenekoop RK.

Clin Genet. 2013 Aug;84(2):150-9. doi: 10.1111/cge.12196.

20.

Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa.

Martínez-Gimeno M, Gamundi MJ, Hernan I, Maseras M, Millá E, Ayuso C, García-Sandoval B, Beneyto M, Vilela C, Baiget M, Antiñolo G, Carballo M.

Invest Ophthalmol Vis Sci. 2003 May;44(5):2171-7.

PMID:
12714658
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