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250 related items for PubMed ID: 25544989

  • 1. Exome sequencing reveals novel and recurrent mutations with clinical significance in inherited retinal dystrophies.
    González-del Pozo M, Méndez-Vidal C, Bravo-Gil N, Vela-Boza A, Dopazo J, Borrego S, Antiñolo G.
    PLoS One; 2014; 9(12):e116176. PubMed ID: 25544989
    [Abstract] [Full Text] [Related]

  • 2. 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; 19():2187-95. PubMed ID: 24227914
    [Abstract] [Full Text] [Related]

  • 3. Distinct mutations with different inheritance mode caused similar retinal dystrophies in one family: a demonstration of the importance of genetic annotations in complicated pedigrees.
    Chen X, Sheng X, Liu Y, Li Z, Sun X, Jiang C, Qi R, Yuan S, Wang X, Zhou G, Zhen Y, Xie P, Liu Q, Yan B, Zhao C.
    J Transl Med; 2018 May 29; 16(1):145. PubMed ID: 29843741
    [Abstract] [Full Text] [Related]

  • 4. Novel C8orf37 Mutations in Patients with Early-onset Retinal Dystrophy, Macular Atrophy, Cataracts, and High Myopia.
    Katagiri S, Hayashi T, Yoshitake K, Akahori M, Ikeo K, Gekka T, Tsuneoka H, Iwata T.
    Ophthalmic Genet; 2016 May 29; 37(1):68-75. PubMed ID: 25113443
    [Abstract] [Full Text] [Related]

  • 5. Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa.
    Beheshtian M, Saee Rad S, Babanejad M, Mohseni M, Hashemi H, Eshghabadi A, Hajizadeh F, Akbari MR, Kahrizi K, Riazi Esfahani M, Najmabadi H.
    Arch Iran Med; 2015 Nov 29; 18(11):776-85. PubMed ID: 26497376
    [Abstract] [Full Text] [Related]

  • 6. Mutation analysis in 129 genes associated with other forms of retinal dystrophy in 157 families with retinitis pigmentosa based on exome sequencing.
    Xu Y, Guan L, Xiao X, Zhang J, Li S, Jiang H, Jia X, Yang J, Guo X, Yin Y, Wang J, Zhang Q.
    Mol Vis; 2015 Nov 29; 21():477-86. PubMed ID: 25999675
    [Abstract] [Full Text] [Related]

  • 7. 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. PubMed ID: 23900199
    [Abstract] [Full Text] [Related]

  • 8. New COL6A6 variant detected by whole-exome sequencing is linked to break points in intron 4 and 3'-UTR, deleting exon 5 of RHO, and causing adRP.
    de Sousa Dias M, Hernan I, Delás B, Pascual B, Borràs E, Gamundi MJ, Mañé B, Fernández-San José P, Ayuso C, Carballo M.
    Mol Vis; 2015 Oct 10; 21():857-70. PubMed ID: 26321861
    [Abstract] [Full Text] [Related]

  • 9. Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree.
    Méndez-Vidal C, Bravo-Gil N, González-Del Pozo M, Vela-Boza A, Dopazo J, Borrego S, Antiñolo G.
    BMC Genet; 2014 Dec 14; 15():143. PubMed ID: 25494902
    [Abstract] [Full Text] [Related]

  • 10. Genetic Analysis of the Rhodopsin Gene Identifies a Mosaic Dominant Retinitis Pigmentosa Mutation in a Healthy Individual.
    Beryozkin A, Levy G, Blumenfeld A, Meyer S, Namburi P, Morad Y, Gradstein L, Swaroop A, Banin E, Sharon D.
    Invest Ophthalmol Vis Sci; 2016 Mar 14; 57(3):940-7. PubMed ID: 26962691
    [Abstract] [Full Text] [Related]

  • 11. Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration.
    Nishiguchi KM, Avila-Fernandez A, van Huet RA, Corton M, Pérez-Carro R, Martín-Garrido E, López-Molina MI, Blanco-Kelly F, Hoefsloot LH, van Zelst-Stams WA, García-Ruiz PJ, Del Val J, Di Gioia SA, Klevering BJ, van de Warrenburg BP, Vazquez C, Cremers FP, García-Sandoval B, Hoyng CB, Collin RW, Rivolta C, Ayuso C.
    Ophthalmology; 2014 Aug 14; 121(8):1620-7. PubMed ID: 24697911
    [Abstract] [Full Text] [Related]

  • 12. Whole-exome sequencing reveals a novel frameshift mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in the Indian population.
    Zhou Y, Saikia BB, Jiang Z, Zhu X, Liu Y, Huang L, Kim R, Yang Y, Qu C, Hao F, Gong B, Tai Z, Niu L, Yang Z, Sundaresan P, Zhu X.
    J Hum Genet; 2015 Oct 14; 60(10):625-30. PubMed ID: 26246154
    [Abstract] [Full Text] [Related]

  • 13. Identification of Novel and Recurrent Disease-Causing Mutations in Retinal Dystrophies Using Whole Exome Sequencing (WES): Benefits and Limitations.
    Tiwari A, Lemke J, Altmueller J, Thiele H, Glaus E, Fleischhauer J, Nürnberg P, Neidhardt J, Berger W.
    PLoS One; 2016 Oct 14; 11(7):e0158692. PubMed ID: 27391102
    [Abstract] [Full Text] [Related]

  • 14. Syndromic and non-syndromic forms of retinitis pigmentosa: a comprehensive Italian clinical and molecular study reveals new mutations.
    Pierrottet CO, Zuntini M, Digiuni M, Bazzanella I, Ferri P, Paderni R, Rossetti LM, Cecchin S, Orzalesi N, Bertelli M.
    Genet Mol Res; 2014 Oct 27; 13(4):8815-33. PubMed ID: 25366773
    [Abstract] [Full Text] [Related]

  • 15. Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophy.
    Liu YP, Bosch DG, Siemiatkowska AM, Rendtorff ND, Boonstra FN, Möller C, Tranebjærg L, Katsanis N, Cremers FP.
    Ophthalmic Genet; 2017 Oct 27; 38(2):127-132. PubMed ID: 27029556
    [Abstract] [Full Text] [Related]

  • 16. Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned.
    Almoguera B, Li J, Fernandez-San Jose P, Liu Y, March M, Pellegrino R, Golhar R, Corton M, Blanco-Kelly F, López-Molina MI, García-Sandoval B, Guo Y, Tian L, Liu X, Guan L, Zhang J, Keating B, Xu X, Hakonarson H, Ayuso C.
    PLoS One; 2015 Oct 27; 10(7):e0133624. PubMed ID: 26197217
    [Abstract] [Full Text] [Related]

  • 17. Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy.
    Coppieters F, Van Schil K, Bauwens M, Verdin H, De Jaegher A, Syx D, Sante T, Lefever S, Abdelmoula NB, Depasse F, Casteels I, de Ravel T, Meire F, Leroy BP, De Baere E.
    Genet Med; 2014 Sep 27; 16(9):671-80. PubMed ID: 24625443
    [Abstract] [Full Text] [Related]

  • 18. Whole-exome sequencing identifies a novel homozygous frameshift mutation in the PROM1 gene as a causative mutation in two patients with sporadic retinitis pigmentosa.
    Liu S, Xie L, Yue J, Ma T, Peng C, Qiu B, Yang Z, Yang J.
    Int J Mol Med; 2016 Jun 27; 37(6):1528-34. PubMed ID: 27082927
    [Abstract] [Full Text] [Related]

  • 19. The combination of whole-exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies.
    Abu Diab A, AlTalbishi A, Rosin B, Kanaan M, Kamal L, Swaroop A, Chowers I, Banin E, Sharon D, Khateb S.
    Acta Ophthalmol; 2019 Sep 27; 97(6):e877-e886. PubMed ID: 30925032
    [Abstract] [Full Text] [Related]

  • 20. Whole exome sequencing analysis identifies novel Stargardt disease-related gene mutations in Chinese Stargardt disease and retinitis pigmentosa patients.
    Ng TK, Cao Y, Yuan XL, Chen S, Xu Y, Chen SL, Zheng Y, Chen H.
    Eye (Lond); 2022 Apr 27; 36(4):749-759. PubMed ID: 33846575
    [Abstract] [Full Text] [Related]

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