BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

692 related articles for article (PubMed ID: 20537394)

  • 1. Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype.
    Littink KW; van den Born LI; Koenekoop RK; Collin RW; Zonneveld MN; Blokland EA; Khan H; Theelen T; Hoyng CB; Cremers FP; den Hollander AI; Klevering BJ
    Ophthalmology; 2010 Oct; 117(10):2026-33, 2033.e1-7. PubMed ID: 20537394
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population.
    Bandah-Rozenfeld D; Littink KW; Ben-Yosef T; Strom TM; Chowers I; Collin RW; den Hollander AI; van den Born LI; Zonneveld MN; Merin S; Banin E; Cremers FP; Sharon D
    Invest Ophthalmol Vis Sci; 2010 Sep; 51(9):4387-94. PubMed ID: 20375346
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa.
    Clark GR; Crowe P; Muszynska D; O'Prey D; O'Neill J; Alexander S; Willoughby CE; McKay GJ; Silvestri G; Simpson DA
    Ophthalmology; 2010 Nov; 117(11):2169-77.e3. PubMed ID: 20591486
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Different amino acid substitutions at the same position in rhodopsin lead to distinct phenotypes.
    Neidhardt J; Barthelmes D; Farahmand F; Fleischhauer JC; Berger W
    Invest Ophthalmol Vis Sci; 2006 Apr; 47(4):1630-5. PubMed ID: 16565402
    [TBL] [Abstract][Full Text] [Related]  

  • 5. IMPG2-associated retinitis pigmentosa displays relatively early macular involvement.
    van Huet RA; Collin RW; Siemiatkowska AM; Klaver CC; Hoyng CB; Simonelli F; Khan MI; Qamar R; Banin E; Cremers FP; Theelen T; den Hollander AI; van den Born LI; Klevering BJ
    Invest Ophthalmol Vis Sci; 2014 May; 55(6):3939-53. PubMed ID: 24876279
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Identification of novel mutations in the ortholog of Drosophila eyes shut gene (EYS) causing autosomal recessive retinitis pigmentosa.
    Abd El-Aziz MM; O'Driscoll CA; Kaye RS; Barragan I; El-Ashry MF; Borrego S; Antiñolo G; Pang CP; Webster AR; Bhattacharya SS
    Invest Ophthalmol Vis Sci; 2010 Aug; 51(8):4266-72. PubMed ID: 20237254
    [TBL] [Abstract][Full Text] [Related]  

  • 7. EYS is a major gene for rod-cone dystrophies in France.
    Audo I; Sahel JA; Mohand-Saïd S; Lancelot ME; Antonio A; Moskova-Doumanova V; Nandrot EF; Doumanov J; Barragan I; Antinolo G; Bhattacharya SS; Zeitz C
    Hum Mutat; 2010 May; 31(5):E1406-35. PubMed ID: 20333770
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Fundus phenotype in retinitis pigmentosa associated with EYS mutations.
    Mucciolo DP; Sodi A; Passerini I; Murro V; Cipollini F; Borg I; Pelo E; Contini E; Virgili G; Rizzo S
    Ophthalmic Genet; 2018 Oct; 39(5):589-602. PubMed ID: 30153090
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Clinical features and mutations in patients with dominant retinitis pigmentosa-1 (RP1).
    Berson EL; Grimsby JL; Adams SM; McGee TL; Sweklo E; Pierce EA; Sandberg MA; Dryja TP
    Invest Ophthalmol Vis Sci; 2001 Sep; 42(10):2217-24. PubMed ID: 11527933
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Autosomal dominant retinitis pigmentosa in a large family: a clinical and molecular genetic study.
    Rosas DJ; Roman AJ; Weissbrod P; Macke JP; Nathans J
    Invest Ophthalmol Vis Sci; 1994 Jul; 35(8):3134-44. PubMed ID: 8045708
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Clinical characteristics of rod and cone photoreceptor dystrophies in patients with mutations in the C8orf37 gene.
    van Huet RA; Estrada-Cuzcano A; Banin E; Rotenstreich Y; Hipp S; Kohl S; Hoyng CB; den Hollander AI; Collin RW; Klevering BJ
    Invest Ophthalmol Vis Sci; 2013 Jul; 54(7):4683-90. PubMed ID: 23788369
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Disease course of patients with X-linked retinitis pigmentosa due to RPGR gene mutations.
    Sandberg MA; Rosner B; Weigel-DiFranco C; Dryja TP; Berson EL
    Invest Ophthalmol Vis Sci; 2007 Mar; 48(3):1298-304. PubMed ID: 17325176
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction.
    Roosing S; van den Born LI; Hoyng CB; Thiadens AA; de Baere E; Collin RW; Koenekoop RK; Leroy BP; van Moll-Ramirez N; Venselaar H; Riemslag FC; Cremers FP; Klaver CC; den Hollander AI
    Ophthalmology; 2013 Jun; 120(6):1239-46. PubMed ID: 23499059
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features associated with the most common mutation, Asp226Asn.
    Wada Y; Sandberg MA; McGee TL; Stillberger MA; Berson EL; Dryja TP
    Invest Ophthalmol Vis Sci; 2005 May; 46(5):1735-41. PubMed ID: 15851576
    [TBL] [Abstract][Full Text] [Related]  

  • 18. CERKL mutations and associated phenotypes in seven Spanish families with autosomal recessive retinitis pigmentosa.
    Avila-Fernandez A; Riveiro-Alvarez R; Vallespin E; Wilke R; Tapias I; Cantalapiedra D; Aguirre-Lamban J; Gimenez A; Trujillo-Tiebas MJ; Ayuso C
    Invest Ophthalmol Vis Sci; 2008 Jun; 49(6):2709-13. PubMed ID: 18515597
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Novel NR2E3 mutations (R104Q, R334G) associated with a mild form of enhanced S-cone syndrome demonstrate compound heterozygosity.
    Hayashi T; Gekka T; Goto-Omoto S; Takeuchi T; Kubo A; Kitahara K
    Ophthalmology; 2005 Dec; 112(12):2115. PubMed ID: 16225923
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 35.