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Journal Abstract Search

187 related items for PubMed ID: 29718797

  • 1. CEP250 mutations associated with mild cone-rod dystrophy and sensorineural hearing loss in a Japanese family.
    Kubota D, Gocho K, Kikuchi S, Akeo K, Miura M, Yamaki K, Takahashi H, Kameya S.
    Ophthalmic Genet; 2018 Aug; 39(4):500-507. PubMed ID: 29718797
    [Abstract] [Full Text] [Related]

  • 2. Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss.
    Namburi P, Ratnapriya R, Khateb S, Lazar CH, Kinarty Y, Obolensky A, Erdinest I, Marks-Ohana D, Pras E, Ben-Yosef T, Newman H, Gross M, Swaroop A, Banin E, Sharon D.
    Am J Hum Genet; 2016 Sep 01; 99(3):777-784. PubMed ID: 27588452
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  • 3. Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome.
    Igelman AD, Ku C, da Palma MM, Georgiou M, Schiff ER, Lam BL, Sankila EM, Ahn J, Pyers L, Vincent A, Ferraz Sallum JM, Zein WM, Oh JK, Maldonado RS, Ryu J, Tsang SH, Gorin MB, Webster AR, Michaelides M, Yang P, Pennesi ME.
    Ophthalmic Genet; 2021 Dec 01; 42(6):664-673. PubMed ID: 34223797
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  • 4. A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome.
    Khateb S, Zelinger L, Mizrahi-Meissonnier L, Ayuso C, Koenekoop RK, Laxer U, Gross M, Banin E, Sharon D.
    J Med Genet; 2014 Jul 01; 51(7):460-9. PubMed ID: 24780881
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  • 5. Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects.
    Nikopoulos K, Farinelli P, Giangreco B, Tsika C, Royer-Bertrand B, Mbefo MK, Bedoni N, Kjellström U, El Zaoui I, Di Gioia SA, Balzano S, Cisarova K, Messina A, Decembrini S, Plainis S, Blazaki SV, Khan MI, Micheal S, Boldt K, Ueffing M, Moulin AP, Cremers FPM, Roepman R, Arsenijevic Y, Tsilimbaris MK, Andréasson S, Rivolta C.
    Am J Hum Genet; 2016 Sep 01; 99(3):770-776. PubMed ID: 27588451
    [Abstract] [Full Text] [Related]

  • 6. Homozygous Knockout of Cep250 Leads to a Relatively Late-Onset Retinal Degeneration and Sensorineural Hearing Loss in Mice.
    Abu-Diab A, Gopalakrishnan P, Matsevich C, de Jong M, Obolensky A, Khalaileh A, Salameh M, Ejzenberg A, Gross M, Banin E, Sharon D, Khateb S.
    Transl Vis Sci Technol; 2023 Mar 01; 12(3):3. PubMed ID: 36857066
    [Abstract] [Full Text] [Related]

  • 7. Characterization of the cone-rod dystrophy retinal phenotype caused by novel homozygous DRAM2 mutations.
    Abad-Morales V, Burés-Jelstrup A, Navarro R, Ruiz-Nogales S, Méndez-Vendrell P, Corcóstegui B, Pomares E.
    Exp Eye Res; 2019 Oct 01; 187():107752. PubMed ID: 31394102
    [Abstract] [Full Text] [Related]

  • 8. Functional characterization of CEP250 variant identified in nonsyndromic retinitis pigmentosa.
    Huang XF, Xiang L, Fang XL, Liu WQ, Zhuang YY, Chen ZJ, Shen RJ, Cheng W, Han RY, Zheng SS, Chen XJ, Liu X, Jin ZB.
    Hum Mutat; 2019 Aug 01; 40(8):1039-1045. PubMed ID: 30998843
    [Abstract] [Full Text] [Related]

  • 9. Phenotypic diversity in autosomal-dominant cone-rod dystrophy elucidated by adaptive optics retinal imaging.
    Song H, Rossi EA, Stone E, Latchney L, Williams D, Dubra A, Chung M.
    Br J Ophthalmol; 2018 Jan 01; 102(1):136-141. PubMed ID: 29074494
    [Abstract] [Full Text] [Related]

  • 10. Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility.
    Ascari G, Peelman F, Farinelli P, Rosseel T, Lambrechts N, Wunderlich KA, Wagner M, Nikopoulos K, Martens P, Balikova I, Derycke L, Holtappels G, Krysko O, Van Laethem T, De Jaegere S, Guillemyn B, De Rycke R, De Bleecker J, Creytens D, Van Dorpe J, Gerris J, Bachert C, Neuhofer C, Walraedt S, Bischoff A, Pedersen LB, Klopstock T, Rivolta C, Leroy BP, De Baere E, Coppieters F.
    Hum Mutat; 2020 May 01; 41(5):998-1011. PubMed ID: 31999394
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  • 15. Identification of Novel Mutations in the LRR-Cap Domain of C21orf2 in Japanese Patients With Retinitis Pigmentosa and Cone-Rod Dystrophy.
    Suga A, Mizota A, Kato M, Kuniyoshi K, Yoshitake K, Sultan W, Yamazaki M, Shimomura Y, Ikeo K, Tsunoda K, Iwata T.
    Invest Ophthalmol Vis Sci; 2016 Aug 01; 57(10):4255-63. PubMed ID: 27548899
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  • 17. Clinical characteristics, imaging findings, and genetic results of a patient with CEP290-related cone-rod dystrophy.
    Vilaplana F, Ros A, Garcia B, Blanco I, Castellanos E, Edwards NJ, Valldeperas X, Ruiz-Bilbao S, Sabala A.
    Ophthalmic Genet; 2021 Aug 01; 42(4):474-479. PubMed ID: 33886416
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  • 19. Identification of novel PROM1 mutations responsible for autosomal recessive maculopathy with rod-cone dystrophy.
    Liang J, She X, Chen J, Zhai Y, Liu Y, Zheng K, Gong Y, Zhu H, Luo X, Sun X.
    Graefes Arch Clin Exp Ophthalmol; 2019 Mar 01; 257(3):619-628. PubMed ID: 30588538
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