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Journal Abstract Search

1220 related items for PubMed ID: 28761320

  • 1. Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended families.
    Jones KD, Wheaton DK, Bowne SJ, Sullivan LS, Birch DG, Chen R, Daiger SP.
    Mol Vis; 2017; 23():470-481. PubMed ID: 28761320
    [Abstract] [Full Text] [Related]

  • 2. Autosomal Dominant Retinal Dystrophy With Electronegative Waveform Associated With a Novel RAX2 Mutation.
    Yang P, Chiang PW, Weleber RG, Pennesi ME.
    JAMA Ophthalmol; 2015 Jun; 133(6):653-61. PubMed ID: 25789692
    [Abstract] [Full Text] [Related]

  • 3. Novel variants identified with next-generation sequencing in Polish patients with cone-rod dystrophy.
    Wawrocka A, Skorczyk-Werner A, Wicher K, Niedziela Z, Ploski R, Rydzanicz M, Sykulski M, Kociecki J, Weisschuh N, Kohl S, Biskup S, Wissinger B, Krawczynski MR.
    Mol Vis; 2018 Jun; 24():326-339. PubMed ID: 29769798
    [Abstract] [Full Text] [Related]

  • 4. Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa.
    Birtel J, Gliem M, Mangold E, Müller PL, Holz FG, Neuhaus C, Lenzner S, Zahnleiter D, Betz C, Eisenberger T, Bolz HJ, Charbel Issa P.
    PLoS One; 2018 Jun; 13(12):e0207958. PubMed ID: 30543658
    [Abstract] [Full Text] [Related]

  • 5. 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 Jun; 10(7):e0133624. PubMed ID: 26197217
    [Abstract] [Full Text] [Related]

  • 6. Incomplete penetrance of CRX gene for autosomal dominant form of cone-rod dystrophy.
    Chapi M, Sabbaghi H, Suri F, Alehabib E, Rahimi-Aliabadi S, Jamali F, Jamshidi J, Emamalizadeh B, Darvish H, Mirrahimi M, Ahmadieh H, Daftarian N.
    Ophthalmic Genet; 2019 Jun; 40(3):259-266. PubMed ID: 31215831
    [Abstract] [Full Text] [Related]

  • 7. Genetics of Retinitis Pigmentosa and Other Hereditary Retinal Disorders in Western Switzerland.
    Conti GM, Vaclavik V, Rivolta C, Escher P, Schorderet DF, Munier FL, Tran HV.
    Ophthalmic Res; 2024 Jun; 67(1):172-182. PubMed ID: 38160664
    [Abstract] [Full Text] [Related]

  • 8. The phenotypic variability of retinal dystrophies associated with mutations in CRX, with report of a novel macular dystrophy phenotype.
    Hull S, Arno G, Plagnol V, Chamney S, Russell-Eggitt I, Thompson D, Ramsden SC, Black GC, Robson AG, Holder GE, Moore AT, Webster AR.
    Invest Ophthalmol Vis Sci; 2014 Sep 30; 55(10):6934-44. PubMed ID: 25270190
    [Abstract] [Full Text] [Related]

  • 9. Cone and cone-rod dystrophy segregating in the same pedigree due to the same novel CRX gene mutation.
    Kitiratschky VB, Nagy D, Zabel T, Zrenner E, Wissinger B, Kohl S, Jägle H.
    Br J Ophthalmol; 2008 Aug 30; 92(8):1086-91. PubMed ID: 18653602
    [Abstract] [Full Text] [Related]

  • 10. Electrophysiologic and phenotypic features of an autosomal cone-rod dystrophy caused by a novel CRX mutation.
    Lines MA, Hébert M, McTaggart KE, Flynn SJ, Tennant MT, MacDonald IM.
    Ophthalmology; 2002 Oct 30; 109(10):1862-70. PubMed ID: 12359607
    [Abstract] [Full Text] [Related]

  • 11. ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotype.
    Poloschek CM, Bach M, Lagrèze WA, Glaus E, Lemke JR, Berger W, Neidhardt J.
    Invest Ophthalmol Vis Sci; 2010 Aug 30; 51(8):4253-65. PubMed ID: 20335603
    [Abstract] [Full Text] [Related]

  • 12. Autosomal dominant retinitis pigmentosa with intrafamilial variability and incomplete penetrance in two families carrying mutations in PRPF8.
    Maubaret CG, Vaclavik V, Mukhopadhyay R, Waseem NH, Churchill A, Holder GE, Moore AT, Bhattacharya SS, Webster AR.
    Invest Ophthalmol Vis Sci; 2011 Dec 02; 52(13):9304-9. PubMed ID: 22039234
    [Abstract] [Full Text] [Related]

  • 13. Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa.
    Perez-Carro R, Corton M, Sánchez-Navarro I, Zurita O, Sanchez-Bolivar N, Sánchez-Alcudia R, Lelieveld SH, Aller E, Lopez-Martinez MA, López-Molina MI, Fernandez-San Jose P, Blanco-Kelly F, Riveiro-Alvarez R, Gilissen C, Millan JM, Avila-Fernandez A, Ayuso C.
    Sci Rep; 2016 Jan 25; 6():19531. PubMed ID: 26806561
    [Abstract] [Full Text] [Related]

  • 14. Autosomal dominant retinitis pigmentosa with macular involvement associated with a disease haplotype that included a novel PRPH2 variant (p.Cys250Gly).
    Katagiri S, Hayashi T, Mizobuchi K, Yoshitake K, Iwata T, Nakano T.
    Ophthalmic Genet; 2018 Jun 25; 39(3):357-365. PubMed ID: 29630435
    [Abstract] [Full Text] [Related]

  • 15. Identification of novel USH2A mutations in patients with autosomal recessive retinitis pigmentosa via targeted next‑generation sequencing.
    Zhu X, Li X, Tian W, Yang Y, Sun K, Li S, Zhu X.
    Mol Med Rep; 2020 Jul 25; 22(1):193-200. PubMed ID: 32319668
    [Abstract] [Full Text] [Related]

  • 16. Pseudodominant inheritance of retinitis pigmentosa in a family with mutations in the Eyes Shut Homolog (EYS) gene.
    Di Iorio E, Adamo GG, Sorrentino U, De Nadai K, Barbaro V, Mura M, Pellegrini M, Boaretto F, Tavolato M, Suppiej A, Nasini F, Salviati L, Parmeggiani F.
    Sci Rep; 2024 Aug 10; 14(1):18580. PubMed ID: 39127808
    [Abstract] [Full Text] [Related]

  • 17. 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]

  • 18. Identification of a Disease-Causing Mutation in a Chinese Patient with Retinitis Pigmentosa by Targeted Next-Generation Sequencing.
    Xiao J, Guo X, Wang Y, Shao M, Wei X, Du L, Li L, Sun Y, Yang Y.
    Eur J Ophthalmol; 2017 Nov 08; 27(6):791-796. PubMed ID: 28430325
    [Abstract] [Full Text] [Related]

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  • 20. PRPH2 mutation as the cause of various clinical manifestations in a family affected with inherited retinal dystrophy.
    Daftarian N, Mirrahimi M, Sabbaghi H, Moghadasi A, Zal N, Dehghan Banadaki H, Ahmadieh H, Suri F.
    Ophthalmic Genet; 2019 Oct 08; 40(5):436-442. PubMed ID: 31618092
    [Abstract] [Full Text] [Related]

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