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Similar articles for PubMed (Select 23329738)

1.

Author response: Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene.

Burke TR, Allikmets R.

Invest Ophthalmol Vis Sci. 2013 Jan 17;54(1):521. doi: 10.1167/iovs.12-11528. No abstract available.

PMID:
23329738
2.

Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene.

Burton DS, Ali M, McKibbin M.

Invest Ophthalmol Vis Sci. 2013 Jan 17;54(1):520. doi: 10.1167/iovs.12-11472. No abstract available.

PMID:
23329737
3.

Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene.

Burke TR, Fishman GA, Zernant J, Schubert C, Tsang SH, Smith RT, Ayyagari R, Koenekoop RK, Umfress A, Ciccarelli ML, Baldi A, Iannaccone A, Cremers FP, Klaver CC, Allikmets R.

Invest Ophthalmol Vis Sci. 2012 Jul 3;53(8):4458-67. doi: 10.1167/iovs.11-9166.

4.

N965S is a common ABCA4 variant in Stargardt-related retinopathies in the Danish population.

Rosenberg T, Klie F, Garred P, Schwartz M.

Mol Vis. 2007 Oct 17;13:1962-9.

PMID:
17982420
5.

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
6.

ABCA4 mutations and discordant ABCA4 alleles in patients and siblings with bull's-eye maculopathy.

Michaelides M, Chen LL, Brantley MA Jr, Andorf JL, Isaak EM, Jenkins SA, Holder GE, Bird AC, Stone EM, Webster AR.

Br J Ophthalmol. 2007 Dec;91(12):1650-5.

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.

Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4).

Yatsenko AN, Shroyer NF, Lewis RA, Lupski JR.

Hum Genet. 2001 Apr;108(4):346-55.

PMID:
11379881
10.

ABCA4 disease progression and a proposed strategy for gene therapy.

Cideciyan AV, Swider M, Aleman TS, Tsybovsky Y, Schwartz SB, Windsor EA, Roman AJ, Sumaroka A, Steinberg JD, Jacobson SG, Stone EM, Palczewski K.

Hum Mol Genet. 2009 Mar 1;18(5):931-41. doi: 10.1093/hmg/ddn421. Epub 2008 Dec 12.

11.

Identification of genetic variation and haplotype structure of the canine ABCA4 gene for retinal disease association studies.

Zangerl B, Lindauer SJ, Acland GM, Aguirre GD.

Mol Genet Genomics. 2010 Oct;284(4):243-50. doi: 10.1007/s00438-010-0560-5. Epub 2010 Jul 27.

12.

Cloning of the canine ABCA4 gene and evaluation in canine cone-rod dystrophies and progressive retinal atrophies.

Kijas JW, Zangerl B, Miller B, Nelson J, Kirkness EF, Aguirre GD, Acland GM.

Mol Vis. 2004 Mar 29;10:223-32.

13.

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
14.

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
15.

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
16.

The value of genetic testing for inherited retinal disease caused by mutations in the ABCA4 gene in South Africans.

Roberts LJ, Hardie S, Gollam Hoosen T, Ramesar RS, Greenberg LJ.

S Afr Med J. 2013 Oct;103(10):702-3. No abstract available.

PMID:
24273789
17.

ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies.

Wiszniewski W, Zaremba CM, Yatsenko AN, Jamrich M, Wensel TG, Lewis RA, Lupski JR.

Hum Mol Genet. 2005 Oct 1;14(19):2769-78. Epub 2005 Aug 15.

18.

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
19.

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.

20.

[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
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