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Items: 1 to 20 of 163

1.

Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants.

Aguirre-Lamban J, Riveiro-Alvarez R, Maia-Lopes S, Cantalapiedra D, Vallespin E, Avila-Fernandez A, Villaverde-Montero C, Trujillo-Tiebas MJ, Ramos C, Ayuso C.

Br J Ophthalmol. 2009 May;93(5):614-21. doi: 10.1136/bjo.2008.145193. Epub 2008 Nov 21.

2.

Comparison of high-resolution melting analysis with denaturing high-performance liquid chromatography for mutation scanning in the ABCA4 gene.

Aguirre-Lamban J, Riveiro-Alvarez R, Garcia-Hoyos M, Cantalapiedra D, Avila-Fernandez A, Villaverde-Montero C, Trujillo-Tiebas MJ, Ramos C, Ayuso C.

Invest Ophthalmol Vis Sci. 2010 May;51(5):2615-9. doi: 10.1167/iovs.09-4518. Epub 2009 Dec 3.

PMID:
19959634
3.

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. doi: 10.1016/j.ophtha.2013.04.002. Epub 2013 Jun 4.

4.

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.

5.

Spectrum of the ABCA4 gene mutations implicated in severe retinopathies in Spanish patients.

Valverde D, Riveiro-Alvarez R, Aguirre-Lamban J, Baiget M, Carballo M, Antiñolo G, Millán JM, Garcia Sandoval B, Ayuso C.

Invest Ophthalmol Vis Sci. 2007 Mar;48(3):985-90.

PMID:
17325136
6.

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
7.

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.

PMID:
12202497
8.

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
9.

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.

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
12.

[From gene to disease: from the ABCA4 gene to Stargardt disease, cone-rod dystrophy and retinitis pigmentosa].

Cremers FP, Maugeri A, Klevering BJ, Hoefsloot LH, Hoyng CB.

Ned Tijdschr Geneeskd. 2002 Aug 24;146(34):1581-4. Review. Dutch.

PMID:
12224481
13.

Molecular scanning of the ABCA4 gene in Spanish patients with retinitis pigmentosa and Stargardt disease: identification of novel mutations.

Stenirri S, Battistella S, Soriani N, Bernal S, Baiget M, Ferrari M, Cremonesi L.

Eur J Ophthalmol. 2007 Sep-Oct;17(5):749-54.

PMID:
17932850
14.

ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies.

Kitiratschky VB, Grau T, Bernd A, Zrenner E, Jägle H, Renner AB, Kellner U, Rudolph G, Jacobson SG, Cideciyan AV, Schaich S, Kohl S, Wissinger B.

Eur J Hum Genet. 2008 Jul;16(7):812-9. doi: 10.1038/ejhg.2008.23. Epub 2008 Feb 20.

16.

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
17.

Outcome of ABCA4 microarray screening in routine clinical practice.

Ernest PJ, Boon CJ, Klevering BJ, Hoefsloot LH, Hoyng CB.

Mol Vis. 2009 Dec 20;15:2841-7.

18.

ABCA4 mutations in Portuguese Stargardt patients: identification of new mutations and their phenotypic analysis.

Maia-Lopes S, Aguirre-Lamban J, Castelo-Branco M, Riveiro-Alvarez R, Ayuso C, Silva ED.

Mol Vis. 2009;15:584-91. Epub 2009 Mar 25.

19.

Partial paternal uniparental disomy (UPD) of chromosome 1 in a patient with Stargardt disease.

Riveiro-Alvarez R, Valverde D, Lorda-Sanchez I, Trujillo-Tiebas MJ, Cantalapiedra D, Vallespin E, Aguirre-Lamban J, Ramos C, Ayuso C.

Mol Vis. 2007 Jan 26;13:96-101.

20.

Generalized choriocapillaris dystrophy, a distinct phenotype in the spectrum of ABCA4-associated retinopathies.

Bertelsen M, Zernant J, Larsen M, Duno M, Allikmets R, Rosenberg T.

Invest Ophthalmol Vis Sci. 2014 Apr 29;55(4):2766-76. doi: 10.1167/iovs.13-13391.

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