Literature DB >> 29765157

Retinal findings in a patient with mutations in ABCC6 and ABCA4.

Omar A Mahroo1,2,3, Kaoru Fujinami1,2,4, Anthony T Moore1,2,5, Andrew R Webster6,7.   

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Year:  2018        PMID： 29765157      PMCID： PMC6137180          DOI： 10.1038/s41433-018-0106-3

Source DB:  PubMed          Journal:  Eye (Lond)        ISSN： 0950-222X            Impact factor:   3.775


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  6 in total

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

Authors:  Tomas R Burke; Gerald A Fishman; Jana Zernant; Carl Schubert; Stephen H Tsang; R Theodore Smith; Radha Ayyagari; Robert K Koenekoop; Allison Umfress; Maria Laura Ciccarelli; Alfonso Baldi; Alessandro Iannaccone; Frans P M Cremers; Caroline C W Klaver; Rando Allikmets
Journal:  Invest Ophthalmol Vis Sci       Date:  2012-07-03       Impact factor: 4.799

2.  Angioid streaks with severe macular dysfunction and generalised retinal involvement due to a homozygous duplication in the ABCC6 gene.

Authors:  M H Tan; O M Vanakker; H V Tran; A G Robson; J E Lai-Cheong; R Groves; G E Holder; A T Moore
Journal:  Eye (Lond)       Date:  2012-01-20       Impact factor: 3.775

3.  Pseudoxanthoma elasticum with generalized retinal dysfunction, a common finding?

Authors:  Isabelle Audo; Olivier M Vanakker; Alaric Smith; Bart P Leroy; Anthony G Robson; Sharon A Jenkins; Paul J Coucke; Alan C Bird; Anne De Paepe; Graham E Holder; Andrew R Webster
Journal:  Invest Ophthalmol Vis Sci       Date:  2007-09       Impact factor: 4.799

4.  G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy.

Authors:  Wener Cella; Vivienne C Greenstein; Jana Zernant-Rajang; Theodore R Smith; Gaetano Barile; Rando Allikmets; Stephen H Tsang
Journal:  Exp Eye Res       Date:  2009-02-13       Impact factor: 3.467

5.  Variation of codons 1961 and 2177 of the Stargardt disease gene is not associated with age-related macular degeneration.

Authors:  R H Guymer; E Héon; A J Lotery; F L Munier; D F Schorderet; P N Baird; R J McNeil; H Haines; V C Sheffield; E M Stone
Journal:  Arch Ophthalmol       Date:  2001-05

6.  The clinical effect of homozygous ABCA4 alleles in 18 patients.

Authors:  Kaoru Fujinami; Panagiotis I Sergouniotis; Alice E Davidson; Donna S Mackay; Kazushige Tsunoda; Kazuo Tsubota; Anthony G Robson; Graham E Holder; Anthony T Moore; Michel Michaelides; Andrew R Webster
Journal:  Ophthalmology       Date:  2013-06-12       Impact factor: 12.079
  6 in total

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