Literature DB >> 22234150

Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies).

Simon C Ramsden1, Alice E Davidson, Bart P Leroy, Anthony T Moore, Andrew R Webster, Graeme C M Black, Forbes D C Manson.   

Abstract

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Year:  2012        PMID： 22234150      PMCID： PMC3330226          DOI： 10.1038/ejhg.2011.251

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  10 in total

1.  Identification of the gene responsible for Best macular dystrophy.

Authors:  K Petrukhin; M J Koisti; B Bakall; W Li; G Xie; T Marknell; O Sandgren; K Forsman; G Holmgren; S Andreasson; M Vujic; A A Bergen; V McGarty-Dugan; D Figueroa; C P Austin; M L Metzker; C T Caskey; C Wadelius
Journal:  Nat Genet       Date:  1998-07       Impact factor: 38.330

2.  ISCEV standard for clinical electro-oculography (2010 update).

Authors:  Michael F Marmor; Mitchell G Brigell; Daphne L McCulloch; Carol A Westall; Michael Bach
Journal:  Doc Ophthalmol       Date:  2011-02-05       Impact factor: 2.379

3.  Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC).

Authors:  Jill Yardley; Bart P Leroy; Niki Hart-Holden; Bart A Lafaut; Bart Loeys; Ludwine M Messiaen; Rahat Perveen; M Ashwin Reddy; Shomi S Bhattacharya; Elias Traboulsi; Diana Baralle; Jean-Jacques De Laey; Bernard Puech; Philippe Kestelyn; Anthony T Moore; Forbes D C Manson; Graeme C M Black
Journal:  Invest Ophthalmol Vis Sci       Date:  2004-10       Impact factor: 4.799

4.  A normal electro-oculography in a family affected by best disease with a novel spontaneous mutation of the BEST1 gene.

Authors:  F Testa; S Rossi; I Passerini; A Sodi; V Di Iorio; E Interlandi; M Della Corte; U Menchini; E Rinaldi; F Torricelli; F Simonelli
Journal:  Br J Ophthalmol       Date:  2008-08-14       Impact factor: 4.638

Review 5.  The spectrum of ocular phenotypes caused by mutations in the BEST1 gene.

Authors:  Camiel J F Boon; B Jeroen Klevering; Bart P Leroy; Carel B Hoyng; Jan E E Keunen; Anneke I den Hollander
Journal:  Prog Retin Eye Res       Date:  2009-04-16       Impact factor: 21.198

6.  ADVIRC is caused by distinct mutations in BEST1 that alter pre-mRNA splicing.

Authors:  R Burgess; R E MacLaren; A E Davidson; J E Urquhart; G E Holder; A G Robson; A T Moore; R O' Keefe; G C M Black; F D C Manson
Journal:  J Med Genet       Date:  2008-07-08       Impact factor: 6.318

7.  Biallelic mutation of BEST1 causes a distinct retinopathy in humans.

Authors:  Rosemary Burgess; Ian D Millar; Bart P Leroy; Jill E Urquhart; Ian M Fearon; Elfrida De Baere; Peter D Brown; Anthony G Robson; Genevieve A Wright; Philippe Kestelyn; Graham E Holder; Andrew R Webster; Forbes D C Manson; Graeme C M Black
Journal:  Am J Hum Genet       Date:  2008-01       Impact factor: 11.025

8.  Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa.

Authors:  Alice E Davidson; Ian D Millar; Jill E Urquhart; Rosemary Burgess-Mullan; Yusrah Shweikh; Neil Parry; James O'Sullivan; Geoffrey J Maher; Martin McKibbin; Susan M Downes; Andrew J Lotery; Samuel G Jacobson; Peter D Brown; Graeme C M Black; Forbes D C Manson
Journal:  Am J Hum Genet       Date:  2009-10-22       Impact factor: 11.025

9.  Clinical and genetic heterogeneity in multifocal vitelliform dystrophy.

Authors:  Camiel J F Boon; B Jeroen Klevering; Anneke I den Hollander; Marijke N Zonneveld; Thomas Theelen; Frans P M Cremers; Carel B Hoyng
Journal:  Arch Ophthalmol       Date:  2007-08

10.  A synonymous codon variant in two patients with autosomal recessive bestrophinopathy alters in vitro splicing of BEST1.

Authors:  Alice E Davidson; Panagiotis I Sergouniotis; Rosemary Burgess-Mullan; Nichola Hart-Holden; Sancy Low; Paul J Foster; Forbes D C Manson; Graeme C M Black; Andrew R Webster
Journal:  Mol Vis       Date:  2010-12-31       Impact factor: 2.367
  10 in total

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