These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

417 related articles for article (PubMed ID: 25091951)

  • 1. Novel ADAM9 homozygous mutation in a consanguineous Egyptian family with severe cone-rod dystrophy and cataract.
    El-Haig WM; Jakobsson C; Favez T; Schorderet DF; Abouzeid H
    Br J Ophthalmol; 2014 Dec; 98(12):1718-23. PubMed ID: 25091951
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Childhood cone-rod dystrophy with macular cystic degeneration from recessive CRB1 mutation.
    Khan AO; Aldahmesh MA; Abu-Safieh L; Alkuraya FS
    Ophthalmic Genet; 2014 Sep; 35(3):130-7. PubMed ID: 23767994
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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; 37(1):68-75. PubMed ID: 25113443
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A novel splice site mutation of CDHR1 in a consanguineous Israeli Christian Arab family segregating autosomal recessive cone-rod dystrophy.
    Cohen B; Chervinsky E; Jabaly-Habib H; Shalev SA; Briscoe D; Ben-Yosef T
    Mol Vis; 2012; 18():2915-21. PubMed ID: 23233793
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Homozygous mutation in MERTK causes severe autosomal recessive retinitis pigmentosa.
    Ksantini M; Lafont E; Bocquet B; Meunier I; Hamel CP
    Eur J Ophthalmol; 2012; 22(4):647-53. PubMed ID: 22180149
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Novel recessive cone-rod dystrophy caused by POC1B mutation.
    Durlu YK; Köroğlu Ç; Tolun A
    JAMA Ophthalmol; 2014 Oct; 132(10):1185-91. PubMed ID: 24945461
    [TBL] [Abstract][Full Text] [Related]  

  • 7. An intronic deletion in the PROM1 gene leads to autosomal recessive cone-rod dystrophy.
    Eidinger O; Leibu R; Newman H; Rizel L; Perlman I; Ben-Yosef T
    Mol Vis; 2015; 21():1295-306. PubMed ID: 26702251
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A novel mutation confirms MFRP as the gene causing the syndrome of nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen.
    Crespí J; Buil JA; Bassaganyas F; Vela-Segarra JI; Díaz-Cascajosa J; Ayala-Ramírez R; Zenteno JC
    Am J Ophthalmol; 2008 Aug; 146(2):323-328. PubMed ID: 18554571
    [TBL] [Abstract][Full Text] [Related]  

  • 9. CORD9 a new locus for arCRD: mapping to 8p11, estimation of frequency, evaluation of a candidate gene.
    Danciger M; Hendrickson J; Lyon J; Toomes C; McHale JC; Fishman GA; Inglehearn CF; Jacobson SG; Farber DB
    Invest Ophthalmol Vis Sci; 2001 Oct; 42(11):2458-65. PubMed ID: 11581183
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Splice-site mutations identified in PDE6A responsible for retinitis pigmentosa in consanguineous Pakistani families.
    Khan SY; Ali S; Naeem MA; Khan SN; Husnain T; Butt NH; Qazi ZA; Akram J; Riazuddin S; Ayyagari R; Hejtmancik JF; Riazuddin SA
    Mol Vis; 2015; 21():871-82. PubMed ID: 26321862
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Lack of Interphotoreceptor Retinoid Binding Protein Caused by Homozygous Mutation of RBP3 Is Associated With High Myopia and Retinal Dystrophy.
    Arno G; Hull S; Robson AG; Holder GE; Cheetham ME; Webster AR; Plagnol V; Moore AT
    Invest Ophthalmol Vis Sci; 2015 Apr; 56(4):2358-65. PubMed ID: 25766589
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A distinct vitreo-retinal dystrophy with early-onset cataract from recessive KCNJ13 mutations.
    Khan AO; Bergmann C; Neuhaus C; Bolz HJ
    Ophthalmic Genet; 2015 Mar; 36(1):79-84. PubMed ID: 25475713
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation.
    Ayala-Ramirez R; Graue-Wiechers F; Robredo V; Amato-Almanza M; Horta-Diez I; Zenteno JC
    Mol Vis; 2006 Dec; 12():1483-9. PubMed ID: 17167404
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Coexistence of KCNV2 associated cone dystrophy with supernormal rod electroretinogram and MFRP related oculopathy in a Turkish family.
    Ritter M; Vodopiutz J; Lechner S; Moser E; Schmidt-Erfurth UM; Janecke AR
    Br J Ophthalmol; 2013 Feb; 97(2):169-73. PubMed ID: 23143909
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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; 52(13):9304-9. PubMed ID: 22039234
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Autosomal recessive cone-rod dystrophy associated with compound heterozygous mutations in the EYS gene.
    Katagiri S; Akahori M; Hayashi T; Yoshitake K; Gekka T; Ikeo K; Tsuneoka H; Iwata T
    Doc Ophthalmol; 2014 Jun; 128(3):211-7. PubMed ID: 24652164
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations.
    Mackay DS; Borman AD; Sui R; van den Born LI; Berson EL; Ocaka LA; Davidson AE; Heckenlively JR; Branham K; Ren H; Lopez I; Maria M; Azam M; Henkes A; Blokland E; Qamar R; Webster AR; Cremers FPM; Moore AT; Koenekoop RK; ; Andreasson S; de Baere E; Bennett J; Chader GJ; Berger W; Golovleva I; Greenberg J; den Hollander AI; Klaver CCW; Klevering BJ; Lorenz B; Preising MN; Ramsear R; Roberts L; Roepman R; Rohrschneider K; Wissinger B
    Hum Mutat; 2013 Nov; 34(11):1537-1546. PubMed ID: 23946133
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Macular Dystrophy and Cone-Rod Dystrophy Caused by Mutations in the RP1 Gene: Extending the RP1 Disease Spectrum.
    Verbakel SK; van Huet RAC; den Hollander AI; Geerlings MJ; Kersten E; Klevering BJ; Klaver CCW; Plomp AS; Wesseling NL; Bergen AAB; Nikopoulos K; Rivolta C; Ikeda Y; Sonoda KH; Wada Y; Boon CJF; Nakazawa T; Hoyng CB; Nishiguchi KM
    Invest Ophthalmol Vis Sci; 2019 Mar; 60(4):1192-1203. PubMed ID: 30913292
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Novel ABCA4 compound heterozygous mutations cause severe progressive autosomal recessive cone-rod dystrophy presenting as Stargardt disease.
    Xi Q; Li L; Traboulsi EI; Wang QK
    Mol Vis; 2009; 15():638-45. PubMed ID: 19352439
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 21.