BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

1072 related articles for article (PubMed ID: 23767994)

  • 21. Genotypic and Phenotypic Characteristics of CRB1-Associated Retinal Dystrophies: A Long-Term Follow-up Study.
    Talib M; van Schooneveld MJ; van Genderen MM; Wijnholds J; Florijn RJ; Ten Brink JB; Schalij-Delfos NE; Dagnelie G; Cremers FPM; Wolterbeek R; Fiocco M; Thiadens AA; Hoyng CB; Klaver CC; Bergen AA; Boon CJF
    Ophthalmology; 2017 Jun; 124(6):884-895. PubMed ID: 28341475
    [TBL] [Abstract][Full Text] [Related]  

  • 22. A detailed study of the phenotype of an autosomal dominant cone-rod dystrophy (CORD7) associated with mutation in the gene for RIM1.
    Michaelides M; Holder GE; Hunt DM; Fitzke FW; Bird AC; Moore AT
    Br J Ophthalmol; 2005 Feb; 89(2):198-206. PubMed ID: 15665353
    [TBL] [Abstract][Full Text] [Related]  

  • 23. 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]  

  • 24. Mutations in CRB1 are a relatively common cause of autosomal recessive early-onset retinal degeneration in the Israeli and Palestinian populations.
    Beryozkin A; Zelinger L; Bandah-Rozenfeld D; Harel A; Strom TA; Merin S; Chowers I; Banin E; Sharon D
    Invest Ophthalmol Vis Sci; 2013 Mar; 54(3):2068-75. PubMed ID: 23449718
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Genotype-phenotype correlations in Bothnia dystrophy caused by RLBP1 gene sequence variations.
    Burstedt M; Jonsson F; Köhn L; Burstedt M; Kivitalo M; Golovleva I
    Acta Ophthalmol; 2013 Aug; 91(5):437-44. PubMed ID: 22551409
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Detection of CRB1 mutations in families with retinal dystrophy through phenotype-oriented mutational screening.
    Li S; Shen T; Xiao X; Guo X; Zhang Q
    Int J Mol Med; 2014 Apr; 33(4):913-8. PubMed ID: 24535598
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Next-generation sequencing revealed a novel mutation in the gene encoding the beta subunit of rod phosphodiesterase.
    Shen S; Sujirakul T; Tsang SH
    Ophthalmic Genet; 2014 Sep; 35(3):142-50. PubMed ID: 24828262
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Phenotypic features of CRB1-associated early-onset severe retinal dystrophy and the different molecular approaches to identifying the disease-causing variants.
    Kousal B; Dudakova L; Gaillyova R; Hejtmankova M; Diblik P; Michaelides M; Liskova P
    Graefes Arch Clin Exp Ophthalmol; 2016 Sep; 254(9):1833-9. PubMed ID: 27113771
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Disease expression in X-linked retinitis pigmentosa caused by a putative null mutation in the RPGR gene.
    Jacobson SG; Buraczynska M; Milam AH; Chen C; Järvaläinen M; Fujita R; Wu W; Huang Y; Cideciyan AV; Swaroop A
    Invest Ophthalmol Vis Sci; 1997 Sep; 38(10):1983-97. PubMed ID: 9331262
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Autosomal recessive bestrophinopathy: differential diagnosis and treatment options.
    Boon CJ; van den Born LI; Visser L; Keunen JE; Bergen AA; Booij JC; Riemslag FC; Florijn RJ; van Schooneveld MJ
    Ophthalmology; 2013 Apr; 120(4):809-20. PubMed ID: 23290749
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Ocular phenotype of CORD5, an autosomal dominant retinal dystrophy associated with PITPNM3 p.Q626H mutation.
    Reinis A; Golovleva I; Köhn L; Sandgren O
    Acta Ophthalmol; 2013 May; 91(3):259-66. PubMed ID: 22405330
    [TBL] [Abstract][Full Text] [Related]  

  • 32. 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]  

  • 33. 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]  

  • 34. SPATA7: Evolving phenotype from cone-rod dystrophy to retinitis pigmentosa.
    Matsui R; McGuigan Iii DB; Gruzensky ML; Aleman TS; Schwartz SB; Sumaroka A; Koenekoop RK; Cideciyan AV; Jacobson SG
    Ophthalmic Genet; 2016 Sep; 37(3):333-8. PubMed ID: 26854980
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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]  

  • 36.
    Mairot K; Smirnov V; Bocquet B; Labesse G; Arndt C; Defoort-Dhellemmes S; Zanlonghi X; Hamroun D; Denis D; Picot MC; David T; Grunewald O; Pégart M; Huguet H; Roux AF; Kalatzis V; Dhaenens CM; Meunier I
    Int J Mol Sci; 2021 Nov; 22(23):. PubMed ID: 34884448
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Biallelic Mutations in CRB1 Underlie Autosomal Recessive Familial Foveal Retinoschisis.
    Vincent A; Ng J; Gerth-Kahlert C; Tavares E; Maynes JT; Wright T; Tiwari A; Tumber A; Li S; Hanson JV; Bahr A; MacDonald H; Bähr L; Westall C; Berger W; Cremers FP; den Hollander AI; Héon E
    Invest Ophthalmol Vis Sci; 2016 May; 57(6):2637-46. PubMed ID: 27258436
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Association of p.P347L in the rhodopsin gene with early-onset cystoid macular edema in patients with retinitis pigmentosa.
    Kim C; Chung H; Yu HG
    Ophthalmic Genet; 2012 Jun; 33(2):96-9. PubMed ID: 22217031
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Whole exome sequencing identifies CRB1 defect in an unusual maculopathy phenotype.
    Tsang SH; Burke T; Oll M; Yzer S; Lee W; Xie YA; Allikmets R
    Ophthalmology; 2014 Sep; 121(9):1773-82. PubMed ID: 24811962
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Lens subluxation and retinal dysfunction in a girl with homozygous VSX2 mutation.
    Khan AO; Aldahmesh MA; Noor J; Salem A; Alkuraya FS
    Ophthalmic Genet; 2015 Mar; 36(1):8-13. PubMed ID: 24001013
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 54.