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539 related items for PubMed ID: 32100970

  • 21. 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]

  • 22. 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 14; 36(4):749-759. PubMed ID: 33846575
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  • 23. Targeted next generation sequencing identified novel loss-of-function mutations in MERTK gene in Chinese patients with retinitis pigmentosa.
    Liu S, Bi JG, Hu Y, Tang D, Li B, Zhu P, Peng W, Du D, He H, Zeng J, Dai Y.
    Mol Genet Genomic Med; 2019 Apr 14; 7(4):e00577. PubMed ID: 30790467
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  • 24. Identification of Novel EYS Mutations by Targeted Sequencing Analysis.
    Tian W, Li X, Li Y, Wang L, Yang Y, Sun K, Liu W, Zhou B, Lei B, Zhu X.
    Genet Test Mol Biomarkers; 2020 Nov 14; 24(11):745-753. PubMed ID: 33058741
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  • 25. Differential pattern of RP1 mutations in retinitis pigmentosa.
    Zhang X, Chen LJ, Law JP, Lai TY, Chiang SW, Tam PO, Chu KY, Wang N, Zhang M, Pang CP.
    Mol Vis; 2010 Jul 15; 16():1353-60. PubMed ID: 20664799
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  • 26. 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 Jul 15; 21():477-86. PubMed ID: 25999675
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  • 27. Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa.
    Olivier G, Corton M, Intartaglia D, Verbakel SK, Sergouniotis PI, Le Meur G, Dhaenens CM, Naacke H, Avila-Fernández A, Hoyng CB, Klevering J, Bocquet B, Roubertie A, Sénéchal A, Banfi S, Muller A, Hamel CL, Black GC, Conte I, Roosing S, Zanlonghi X, Ayuso C, Meunier I, Manes G.
    J Med Genet; 2021 Aug 15; 58(8):570-578. PubMed ID: 32817297
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  • 31. 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 Aug 15; 38(2):127-132. PubMed ID: 27029556
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  • 34. Novel homozygous loss-of-function mutations in RP1 and RP1L1 genes in retinitis pigmentosa patients.
    Albarry MA, Hashmi JA, Alreheli AQ, Albalawi AM, Khan B, Ramzan K, Basit S.
    Ophthalmic Genet; 2019 Dec 15; 40(6):507-513. PubMed ID: 31833436
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  • 35. Clinical and Genetic Analysis of a European Cohort with Pericentral Retinitis Pigmentosa.
    Karali M, Testa F, Brunetti-Pierri R, Di Iorio V, Pizzo M, Melillo P, Barillari MR, Torella A, Musacchia F, D'Angelo L, Banfi S, Simonelli F.
    Int J Mol Sci; 2019 Dec 20; 21(1):. PubMed ID: 31877679
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  • 37. USH2A mutational spectrum causing syndromic and non-syndromic retinal dystrophies in a large cohort of Mexican patients.
    Ordoñez-Labastida V, Chacon-Camacho OF, Lopez-Rodriguez VR, Zenteno JC.
    Mol Vis; 2023 Dec 20; 29():31-38. PubMed ID: 37287646
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  • 38. Expanding the retinal phenotype of RP1: from retinitis pigmentosa to a novel and singular macular dystrophy.
    Riera M, Abad-Morales V, Navarro R, Ruiz-Nogales S, Méndez-Vendrell P, Corcostegui B, Pomares E.
    Br J Ophthalmol; 2020 Feb 20; 104(2):173-181. PubMed ID: 31079053
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  • 39. Fundus phenotype in retinitis pigmentosa associated with EYS mutations.
    Mucciolo DP, Sodi A, Passerini I, Murro V, Cipollini F, Borg I, Pelo E, Contini E, Virgili G, Rizzo S.
    Ophthalmic Genet; 2018 Oct 20; 39(5):589-602. PubMed ID: 30153090
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