BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

173 related articles for article (PubMed ID: 30347075)

  • 1. Clinical Features of a Retinopathy Associated With a Dominant Allele of the RGR Gene.
    Ba-Abbad R; Leys M; Wang X; Chakarova C; Waseem N; Carss KJ; Raymond FL; Bujakowska KM; Pierce EA; Mahroo OA; Mohamed MD; Holder GE; Hummel M; Arno G; Webster AR
    Invest Ophthalmol Vis Sci; 2018 Oct; 59(12):4812-4820. PubMed ID: 30347075
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A rare case of
    Mermeklieva E; Kamenarova K; Mihova K; Shakola F; Kaneva R
    Ophthalmic Genet; 2021 Dec; 42(6):747-752. PubMed ID: 34229535
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Phenotypic findings in C1QTNF5 retinopathy (late-onset retinal degeneration).
    Soumplis V; Sergouniotis PI; Robson AG; Michaelides M; Moore AT; Holder GE; Webster AR
    Acta Ophthalmol; 2013 May; 91(3):e191-5. PubMed ID: 23289492
    [TBL] [Abstract][Full Text] [Related]  

  • 4. The characterization of retinal phenotype in a family with C1QTNF5-related late-onset retinal degeneration.
    Vincent A; Munier FL; Vandenhoven CC; Wright T; Westall CA; Héon E
    Retina; 2012 Sep; 32(8):1643-51. PubMed ID: 22277927
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1.
    Arno G; Hull S; Carss K; Dev-Borman A; Chakarova C; Bujakowska K; van den Born LI; Robson AG; Holder GE; Michaelides M; Cremers FP; Pierce E; Raymond FL; Moore AT; Webster AR
    Invest Ophthalmol Vis Sci; 2016 Sep; 57(11):4806-13. PubMed ID: 27623334
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Electroretinography and optical coherence tomography reveal abnormal post-photoreceptoral activity and altered retinal lamination in patients with enhanced S-cone syndrome.
    Sustar M; Perovšek D; Cima I; Stirn-Kranjc B; Hawlina M; Brecelj J
    Doc Ophthalmol; 2015 Jun; 130(3):165-77. PubMed ID: 25663266
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Characterization of CDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy.
    Hull S; Arno G; Robson AG; Broadgate S; Plagnol V; McKibbin M; Halford S; Michaelides M; Holder GE; Moore AT; Khan KN; Webster AR
    JAMA Ophthalmol; 2016 Sep; 134(9):992-1000. PubMed ID: 27386845
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Cone dystrophy or macular dystrophy associated with novel autosomal dominant
    Manes G; Mamouni S; Hérald E; Richard AC; Sénéchal A; Aouad K; Bocquet B; Meunier I; Hamel CP
    Mol Vis; 2017; 23():198-209. PubMed ID: 28442884
    [TBL] [Abstract][Full Text] [Related]  

  • 9.
    Sakti DH; Cornish EE; Mustafic N; Zaheer A; Retsas S; Rajagopalan S; Chung CW; Ewans L; McCluskey P; Nash BM; Jamieson RV; Grigg JR
    Ophthalmic Genet; 2021 Dec; 42(6):706-716. PubMed ID: 34289798
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Fundus Autofluorescence and SD-OCT Document Rapid Progression in Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) Associated with a c.256G > A Mutation in BEST1.
    Kellner S; Stöhr H; Fiebig B; Weinitz S; Farmand G; Kellner U; Weber BH
    Ophthalmic Genet; 2016 Jun; 37(2):201-8. PubMed ID: 26771239
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Fundus albipunctatus associated with compound heterozygous mutations in RPE65.
    Schatz P; Preising M; Lorenz B; Sander B; Larsen M; Rosenberg T
    Ophthalmology; 2011 May; 118(5):888-94. PubMed ID: 21211845
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Fundus autofluorescence in carriers of choroideremia and correlation with electrophysiologic and psychophysical data.
    Preising MN; Wegscheider E; Friedburg C; Poloschek CM; Wabbels BK; Lorenz B
    Ophthalmology; 2009 Jun; 116(6):1201-9.e1-2. PubMed ID: 19376587
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Detailed phenotypic and genotypic characterization of bietti crystalline dystrophy.
    Halford S; Liew G; Mackay DS; Sergouniotis PI; Holt R; Broadgate S; Volpi EV; Ocaka L; Robson AG; Holder GE; Moore AT; Michaelides M; Webster AR
    Ophthalmology; 2014 Jun; 121(6):1174-84. PubMed ID: 24480711
    [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. Homozygosity for a Recessive Loss-of-Function Mutation of the NRL Gene Is Associated With a Variant of Enhanced S-Cone Syndrome.
    Newman H; Blumen SC; Braverman I; Hanna R; Tiosano B; Perlman I; Ben-Yosef T
    Invest Ophthalmol Vis Sci; 2016 Oct; 57(13):5361-5371. PubMed ID: 27732723
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome.
    Scheidecker S; Hull S; Perdomo Y; Studer F; Pelletier V; Muller J; Stoetzel C; Schaefer E; Defoort-Dhellemmes S; Drumare I; Holder GE; Hamel CP; Webster AR; Moore AT; Puech B; Dollfus HJ
    Am J Ophthalmol; 2015 Aug; 160(2):364-372.e1. PubMed ID: 25982971
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Homozygous null mutations in the ABCA4 gene in two families with autosomal recessive retinal dystrophy.
    Singh HP; Jalali S; Hejtmancik JF; Kannabiran C
    Am J Ophthalmol; 2006 May; 141(5):906-13. PubMed ID: 16546111
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Pigmented Paravenous Chorioretinal Atrophy: Clinical Spectrum and Multimodal Imaging Characteristics.
    Lee EK; Lee SY; Oh BL; Yoon CK; Park UC; Yu HG
    Am J Ophthalmol; 2021 Apr; 224():120-132. PubMed ID: 33340506
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration.
    Mataftsi A; Schorderet DF; Chachoua L; Boussalah M; Nouri MT; Barthelmes D; Borruat FX; Munier FL
    Invest Ophthalmol Vis Sci; 2007 Nov; 48(11):5160-7. PubMed ID: 17962469
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Clinical and Genetic Analysis of 63 Families Demonstrating Early and Advanced Characteristic Fundus as the Signature of CRB1 Mutations.
    Wang Y; Sun W; Xiao X; Li S; Jia X; Wang P; Zhang Q
    Am J Ophthalmol; 2021 Mar; 223():160-168. PubMed ID: 33342761
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.