BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

580 related articles for article (PubMed ID: 22264887)

  • 1. Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy.
    Thiadens AA; Phan TM; Zekveld-Vroon RC; Leroy BP; van den Born LI; Hoyng CB; Klaver CC; ; Roosing S; Pott JW; van Schooneveld MJ; van Moll-Ramirez N; van Genderen MM; Boon CJ; den Hollander AI; Bergen AA; De Baere E; Cremers FP; Lotery AJ
    Ophthalmology; 2012 Apr; 119(4):819-26. PubMed ID: 22264887
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy.
    Thiadens AA; Roosing S; Collin RW; van Moll-Ramirez N; van Lith-Verhoeven JJ; van Schooneveld MJ; den Hollander AI; van den Born LI; Hoyng CB; Cremers FP; Klaver CC
    Ophthalmology; 2010 Apr; 117(4):825-30.e1. PubMed ID: 20079539
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2.
    Wissinger B; Dangel S; Jägle H; Hansen L; Baumann B; Rudolph G; Wolf C; Bonin M; Koeppen K; Ladewig T; Kohl S; Zrenner E; Rosenberg T
    Invest Ophthalmol Vis Sci; 2008 Feb; 49(2):751-7. PubMed ID: 18235024
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Oligocone trichromacy: clinical and molecular genetic investigations.
    Andersen MK; Christoffersen NL; Sander B; Edmund C; Larsen M; Grau T; Wissinger B; Kohl S; Rosenberg T
    Invest Ophthalmol Vis Sci; 2010 Jan; 51(1):89-95. PubMed ID: 19797231
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Clinical course of cone dystrophy caused by mutations in the RPGR gene.
    Thiadens AA; Soerjoesing GG; Florijn RJ; Tjiam AG; den Hollander AI; van den Born LI; Riemslag FC; Bergen AA; Klaver CC
    Graefes Arch Clin Exp Ophthalmol; 2011 Oct; 249(10):1527-35. PubMed ID: 21866333
    [TBL] [Abstract][Full Text] [Related]  

  • 8. PDE6C: Novel Mutations, Atypical Phenotype, and Differences Among Children and Adults.
    Daich Varela M; Ullah E; Yousaf S; Brooks BP; Hufnagel RB; Huryn LA
    Invest Ophthalmol Vis Sci; 2020 Oct; 61(12):1. PubMed ID: 33001157
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Electrophysiological testing as a method of cone-rod and cone dystrophy diagnoses and prediction of disease progression.
    Langwińska-Wośko E; Szulborski K; Zaleska-Żmijewska A; Szaflik J
    Doc Ophthalmol; 2015 Apr; 130(2):103-9. PubMed ID: 25603773
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations.
    Littink KW; Koenekoop RK; van den Born LI; Collin RW; Moruz L; Veltman JA; Roosing S; Zonneveld MN; Omar A; Darvish M; Lopez I; Kroes HY; van Genderen MM; Hoyng CB; Rohrschneider K; van Schooneveld MJ; Cremers FP; den Hollander AI
    Invest Ophthalmol Vis Sci; 2010 Nov; 51(11):5943-51. PubMed ID: 20554613
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. Longitudinal Clinical Follow-up and Genetic Spectrum of Patients With Rod-Cone Dystrophy Associated With Mutations in PDE6A and PDE6B.
    Khateb S; Nassisi M; Bujakowska KM; Méjécase C; Condroyer C; Antonio A; Foussard M; Démontant V; Mohand-Saïd S; Sahel JA; Zeitz C; Audo I
    JAMA Ophthalmol; 2019 Jun; 137(6):669-679. PubMed ID: 30998820
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Cone-rod dystrophy can be a manifestation of Danon disease.
    Thiadens AA; Slingerland NW; Florijn RJ; Visser GH; Riemslag FC; Klaver CC
    Graefes Arch Clin Exp Ophthalmol; 2012 May; 250(5):769-74. PubMed ID: 22290069
    [TBL] [Abstract][Full Text] [Related]  

  • 15. The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene.
    Klevering BJ; Deutman AF; Maugeri A; Cremers FP; Hoyng CB
    Graefes Arch Clin Exp Ophthalmol; 2005 Feb; 243(2):90-100. PubMed ID: 15614537
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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; 109(10):1862-70. PubMed ID: 12359607
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Genetic etiology and clinical consequences of complete and incomplete achromatopsia.
    Thiadens AA; Slingerland NW; Roosing S; van Schooneveld MJ; van Lith-Verhoeven JJ; van Moll-Ramirez N; van den Born LI; Hoyng CB; Cremers FP; Klaver CC
    Ophthalmology; 2009 Oct; 116(10):1984-9.e1. PubMed ID: 19592100
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa.
    Pierrache LH; Hartel BP; van Wijk E; Meester-Smoor MA; Cremers FP; de Baere E; de Zaeytijd J; van Schooneveld MJ; Cremers CW; Dagnelie G; Hoyng CB; Bergen AA; Leroy BP; Pennings RJ; van den Born LI; Klaver CC
    Ophthalmology; 2016 May; 123(5):1151-60. PubMed ID: 26927203
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Yearly rates of rod and cone functional loss in retinitis pigmentosa and cone-rod dystrophy.
    Birch DG; Anderson JL; Fish GE
    Ophthalmology; 1999 Feb; 106(2):258-68. PubMed ID: 9951474
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 29.