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Items: 1 to 20 of 134

1.

[Clinical characterization of the Stargardt disease and molecular exploration of the c.2041C>T mutation (ABCA4 gene) in Tunisian patients].

Chouchene I, Largueche L, Ouechtati F, Derouiche K, Turki A, Abdelhak S, El Matri L.

Ann Biol Clin (Paris). 2013 Nov-Dec;71(6):645-51. doi: 10.1684/abc.2013.0912. French.

2.

Early-onset stargardt disease: phenotypic and genotypic characteristics.

Lambertus S, van Huet RA, Bax NM, Hoefsloot LH, Cremers FP, Boon CJ, Klevering BJ, Hoyng CB.

Ophthalmology. 2015 Feb;122(2):335-44. doi: 10.1016/j.ophtha.2014.08.032. Epub 2014 Oct 17.

PMID:
25444351
3.

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. Epub 2002 Jul 4.

PMID:
12192456
4.

ABCA4 mutational spectrum in Mexican patients with Stargardt disease: Identification of 12 novel mutations and evidence of a founder effect for the common p.A1773V mutation.

Chacón-Camacho OF, Granillo-Alvarez M, Ayala-Ramírez R, Zenteno JC.

Exp Eye Res. 2013 Apr;109:77-82. doi: 10.1016/j.exer.2013.02.006. Epub 2013 Feb 16.

PMID:
23419329
5.

The clinical effect of homozygous ABCA4 alleles in 18 patients.

Fujinami K, Sergouniotis PI, Davidson AE, Mackay DS, Tsunoda K, Tsubota K, Robson AG, Holder GE, Moore AT, Michaelides M, Webster AR.

Ophthalmology. 2013 Nov;120(11):2324-31. doi: 10.1016/j.ophtha.2013.04.016. Epub 2013 Jun 12.

PMID:
23769331
6.

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. Epub 2004 Dec 22.

PMID:
15614537
7.

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.

PMID:
15579991
8.

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.

PMID:
15019334
10.
11.

Homozygous c.1937+1G>A splice-site variant of the ABCA4 gene is associated with Stargardt disease.

Eandi CM, Grignolo FM, Passerini I, Marchese C.

Eur J Ophthalmol. 2014 Sep-Oct;24(5):814-7. doi: 10.5301/ejo.5000458. Epub 2014 Feb 24.

PMID:
24585425
12.

Novel mutations in CRB1 and ABCA4 genes cause Leber congenital amaurosis and Stargardt disease in a Swedish family.

Jonsson F, Burstedt MS, Sandgren O, Norberg A, Golovleva I.

Eur J Hum Genet. 2013 Nov;21(11):1266-71. doi: 10.1038/ejhg.2013.23. Epub 2013 Feb 27.

13.

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 Mar-Apr;36(2):82-8.

PMID:
15017103
14.

Homozygosity for a novel ABCA4 founder splicing mutation is associated with progressive and severe Stargardt-like disease.

Beit-Ya'acov A, Mizrahi-Meissonnier L, Obolensky A, Landau C, Blumenfeld A, Rosenmann A, Banin E, Sharon D.

Invest Ophthalmol Vis Sci. 2007 Sep;48(9):4308-14.

PMID:
17724221
15.

Clinical and genetic characteristics of late-onset Stargardt's disease.

Westeneng-van Haaften SC, Boon CJ, Cremers FP, Hoefsloot LH, den Hollander AI, Hoyng CB.

Ophthalmology. 2012 Jun;119(6):1199-210. doi: 10.1016/j.ophtha.2012.01.005. Epub 2012 Mar 24.

PMID:
22449572
16.

Predictors of visual acuity and genotype-phenotype correlates in a cohort of patients with Stargardt disease.

Miraldi Utz V, Coussa RG, Marino MJ, Chappelow AV, Pauer GJ, Hagstrom SA, Traboulsi EI.

Br J Ophthalmol. 2014 Apr;98(4):513-8. doi: 10.1136/bjophthalmol-2013-304270. Epub 2014 Jan 23.

PMID:
24457364
17.

Molecular analysis of ABCA4 and CRB1 genes in a Spanish family segregating both Stargardt disease and autosomal recessive retinitis pigmentosa.

Riveiro-Alvarez R, Vallespin E, Wilke R, Garcia-Sandoval B, Cantalapiedra D, Aguirre-Lamban J, Avila-Fernandez A, Gimenez A, Trujillo-Tiebas MJ, Ayuso C.

Mol Vis. 2008 Feb 4;14:262-7.

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 1;57(1):145-52. doi: 10.1167/iovs.15-18190.

PMID:
26780318
19.

Analysis of ABCA4 in mixed Spanish families segregating different retinal dystrophies.

Paloma E, Coco R, Martínez-Mir A, Vilageliu L, Balcells S, Gonzàlez-Duarte R.

Hum Mutat. 2002 Dec;20(6):476.

PMID:
12442277
20.

Clinical and molecular characteristics of childhood-onset Stargardt disease.

Fujinami K, Zernant J, Chana RK, Wright GA, Tsunoda K, Ozawa Y, Tsubota K, Robson AG, Holder GE, Allikmets R, Michaelides M, Moore AT.

Ophthalmology. 2015 Feb;122(2):326-34. doi: 10.1016/j.ophtha.2014.08.012. Epub 2014 Oct 12.

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