Literature DB >> 22261738

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

M H Tan, O M Vanakker, H V Tran, A G Robson, J E Lai-Cheong, R Groves, G E Holder, A T Moore.   

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Year:  2012        PMID： 22261738      PMCID： PMC3351042          DOI： 10.1038/eye.2011.344

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


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  7 in total

1.  Mutations in ABCC6 cause pseudoxanthoma elasticum.

Authors:  A A Bergen; A S Plomp; E J Schuurman; S Terry; M Breuning; H Dauwerse; J Swart; M Kool; S van Soest; F Baas; J B ten Brink; P T de Jong
Journal:  Nat Genet       Date:  2000-06       Impact factor: 38.330

2.  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

3.  Spectrum of pattern dystrophy in pseudoxanthoma elasticum.

Authors:  Anita Agarwal; Purnima Patel; Tony Adkins; J Donald M Gass
Journal:  Arch Ophthalmol       Date:  2005-07

4.  Dark adaptation and scotopic perimetry over 'peau d'orange' in pseudoxanthoma elasticum.

Authors:  F G Holz; C Jubb; F W Fitzke; A C Bird; F M Pope
Journal:  Br J Ophthalmol       Date:  1994-01       Impact factor: 4.638

5.  ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum (PXE).

Authors:  Dealba Gheduzzi; Rita Guidetti; Claudia Anzivino; Patrizia Tarugi; Enza Di Leo; Daniela Quaglino; Ivonne Pasquali Ronchetti
Journal:  Hum Mutat       Date:  2004-11       Impact factor: 4.878

6.  Novel mutation in ABCC6 gene in a Japanese pedigree with pseudoxanthoma elasticum and retinitis pigmentosa.

Authors:  S Yoshida; M Honda; A Yoshida; S Nakao; Y Goto; T Nakamura; K Fujisawa; T Ishibashi
Journal:  Eye (Lond)       Date:  2005-02       Impact factor: 3.775

7.  Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum.

Authors:  Ellen G Pfendner; Olivier M Vanakker; Sharon F Terry; Sophia Vourthis; Patricia E McAndrew; Monica R McClain; Sarah Fratta; Anna-Susan Marais; Susan Hariri; Paul J Coucke; Michele Ramsay; Denis Viljoen; Patrick F Terry; Anne De Paepe; Jouni Uitto; Lionel G Bercovitch
Journal:  J Med Genet       Date:  2007-07-06       Impact factor: 6.318
  7 in total
  1 in total

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

Authors:  Omar A Mahroo; Kaoru Fujinami; Anthony T Moore; Andrew R Webster
Journal:  Eye (Lond)       Date:  2018-05-16       Impact factor: 3.775
  1 in total

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