BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

300 related articles for article (PubMed ID: 24453473)

  • 1. Association between genotype and phenotype in families with mutations in the ABCA4 gene.
    Kjellström U
    Mol Vis; 2014; 20():89-104. PubMed ID: 24453473
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Three families displaying the combination of Stargardt's disease with cone-rod dystrophy or retinitis pigmentosa.
    Klevering BJ; Maugeri A; Wagner A; Go SL; Vink C; Cremers FP; Hoyng CB
    Ophthalmology; 2004 Mar; 111(3):546-53. PubMed ID: 15019334
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Reduced macular function in ABCA4 carriers.
    Kjellström U
    Mol Vis; 2015; 21():767-82. PubMed ID: 26261413
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Full-field ERG as a predictor of the natural course of
    Schroeder M; Kjellström U
    Mol Vis; 2018; 24():1-16. PubMed ID: 29386879
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Association of a homozygous nonsense mutation in the ABCA4 (ABCR) gene with cone-rod dystrophy phenotype in an Italian family.
    Simonelli F; Testa F; Zernant J; Nesti A; Rossi S; Rinaldi E; Allikmets R
    Ophthalmic Res; 2004; 36(2):82-8. PubMed ID: 15017103
    [TBL] [Abstract][Full Text] [Related]  

  • 6. ABCA4 gene mutations in Japanese patients with Stargardt disease and retinitis pigmentosa.
    Fukui T; Yamamoto S; Nakano K; Tsujikawa M; Morimura H; Nishida K; Ohguro N; Fujikado T; Irifune M; Kuniyoshi K; Okada AA; Hirakata A; Miyake Y; Tano Y
    Invest Ophthalmol Vis Sci; 2002 Sep; 43(9):2819-24. PubMed ID: 12202497
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families.
    Riveiro-Alvarez R; Lopez-Martinez MA; Zernant J; Aguirre-Lamban J; Cantalapiedra D; Avila-Fernandez A; Gimenez A; Lopez-Molina MI; Garcia-Sandoval B; Blanco-Kelly F; Corton M; Tatu S; Fernandez-San Jose P; Trujillo-Tiebas MJ; Ramos C; Allikmets R; Ayuso C
    Ophthalmology; 2013 Nov; 120(11):2332-7. PubMed ID: 23755871
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Electroretinographic findings in patients with Stargardt disease and fundus flavimaculatus.
    Oh KT; Weleber RG; Stone EM; Oh DM; Rosenow J; Billingslea AM
    Retina; 2004 Dec; 24(6):920-8. PubMed ID: 15579991
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Retinal phenotypic characterization of patients with
    López-Rubio S; Chacon-Camacho OF; Matsui R; Guadarrama-Vallejo D; Astiazarán MC; Zenteno JC
    Mol Vis; 2018; 24():105-114. PubMed ID: 29422768
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Targeted next-generation sequencing identifies ABCA4 mutations in Chinese families with childhood-onset and adult-onset Stargardt disease.
    Qu LH; Jin X; Zeng C; Zhou NG; Liu YH; Lin Y
    Biosci Rep; 2021 Jun; 41(6):. PubMed ID: 33988224
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Evaluation of the common variants of the ABCA4 gene in families with Stargardt disease and autosomal recessive retinitis pigmentosa.
    Shastry BS
    Int J Mol Med; 2008 Jun; 21(6):715-20. PubMed ID: 18506364
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [ABCA4 mutations and phenotype of different hereditary retinopathies in 3 pedigrees].
    Rong WN; Wang XG; Sheng XL
    Zhonghua Yan Ke Za Zhi; 2018 Oct; 54(10):775-781. PubMed ID: 30347566
    [No Abstract]   [Full Text] [Related]  

  • 15. Increased Plasma cGMP in a Family With Autosomal Recessive Retinitis Pigmentosa Due to Homozygous Mutations in the PDE6A Gene.
    Kjellström U; Veiga-Crespo P; Andréasson S; Ekström P
    Invest Ophthalmol Vis Sci; 2016 Nov; 57(14):6048-6057. PubMed ID: 27820873
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Visual function in patients with cone-rod dystrophy (CRD) associated with mutations in the ABCA4(ABCR) gene.
    Birch DG; Peters AY; Locke KL; Spencer R; Megarity CF; Travis GH
    Exp Eye Res; 2001 Dec; 73(6):877-86. PubMed ID: 11846518
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Inherited retinal dystrophies in a Kuwaiti tribe.
    Pandova MG; Abduljalil T; Elshafey AE; Abdelmoaty SMA; Albastawisy HI; Bastaki LA; Alsaleh H; Kozak I; AlMerjan JI
    Ophthalmic Genet; 2022 Aug; 43(4):438-445. PubMed ID: 35272565
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Screening of ABCA4 Gene in a Chinese Cohort With Stargardt Disease or Cone-Rod Dystrophy With a Report on 85 Novel Mutations.
    Jiang F; Pan Z; Xu K; Tian L; Xie Y; Zhang X; Chen J; Dong B; Li Y
    Invest Ophthalmol Vis Sci; 2016 Jan; 57(1):145-52. PubMed ID: 26780318
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Phenotypes of 16 Stargardt macular dystrophy/fundus flavimaculatus patients with known ABCA4 mutations and evaluation of genotype-phenotype correlation.
    Gerth C; Andrassi-Darida M; Bock M; Preising MN; Weber BH; Lorenz B
    Graefes Arch Clin Exp Ophthalmol; 2002 Aug; 240(8):628-38. PubMed ID: 12192456
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A five-year follow-up of
    Kjellström U; Andréasson S
    Mol Vis; 2022; 28():300-316. PubMed ID: 36338671
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 15.