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Journal Articles (6)
Meeting Abstract (3)

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Investigative Ophthalmology & Visual Science (9)

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ARVO Annual Meeting Abstract (3)
Retina (3)
Cornea (1)
Genetics (1)
Retinal Cell Biology (1)

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Genetics (6)
Eye Anatomy and Disorders (4)
Retina (3)
Biochemistry and Molecular Biology (1)
Cornea (1)
Glaucoma (1)
Immunology and Microbiology (1)
Oncology (1)
Retinal Cell Biology (1)

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mutation (3)
proteins (3)
family (2)
adult (1)
alleles (1)
antibodies (1)
autosomal recessive inheritance (1)
body tissue (1)
catabolism (1)
centrosome (1)

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ARVO Annual Meeting Abstract September 2016

Functional expression of Bestrophin-1 in vitro following transduction with viral vectors.

Shaun Roger Wood; Michelle McClements; Maria Ines Patricio; Robert E MacLaren; Carolina Uggenti; Sumathi Sekaran; Forbes D Manson

Invest. Ophthalmol. Vis. Sci.. 2016; 57(12):1174.

ARVO Annual Meeting Abstract April 2014

Use of small molecules to correct mutant bestrophin-1 localization.

Carolina Uggenti; Lisa Swanton; Forbes D Manson

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):6015.

ARVO Annual Meeting Abstract April 2014

Development of allele specific gene silencing siRNAs for TGFBI Arg124Cys in Lattice Corneal Dystrophy Type I

David G Courtney; Sarah D Atkinson; Johnny E Moore; Eleonora Maurizi; Graziella Pellegrini; Graeme C Black; Forbes D Manson; Gary Hin-Fai Yam; Irwin W McLean; Tara C B Moore

Invest. Ophthalmol. Vis. Sci.. 2014; 55(13):4069.

Cornea February 2014

Development of Allele-Specific Gene-Silencing siRNAs for TGFBI Arg124Cys in Lattice Corneal Dystrophy Type I

PDF

David G. Courtney; Sarah D. Atkinson; Johnny E. Moore; Eleonora Maurizi; Chiara Serafini; Graziella Pellegrini; Graeme C. Black; Forbes D. Manson; Gary H. F. Yam; Caroline J. MacEwen; Edwin H. A. Allen; W. H. Irwin McLean; C. B. Tara Moore
TAGS: alleles, corneal epithelial cells, gene silencing, meretoja syndrome, pyrosequencing, rna, small interfering, proteins, luciferases, mutation, rna, messenger
Invest. Ophthalmol. Vis. Sci.. 2014; 55(2):977-985. https://doi.org/10.1167/iovs.13-13279

Retina August 2012

RPGR- Associated Retinal Degeneration in Human X-Linked RP and a Murine Model

PDF

Wei Chieh Huang; Alan F. Wright; Alejandro J. Roman; Artur V. Cideciyan; Forbes D. Manson; Dina Y. Gewaily; Sharon B. Schwartz; Sam Sadigh; Maria P. Limberis; Peter Bell; James M. Wilson; Anand Swaroop; Samuel G. Jacobson
TAGS: mice, retinal cone, retinal degeneration, retinal diseases, rod photoreceptors, x-linked inheritance, electroretinography, retina, histopathology tests, phenotype
Invest. Ophthalmol. Vis. Sci.. 2012; 53(9):5594-5608. https://doi.org/10.1167/iovs.12-10070

Includes: Supplemental Content

Genetics October 2011

Identification of a Novel Locus for Autosomal Dominant Primary Open Angle Glaucoma on 4q35.1-q35.2

PDF

Louise F. Porter; Jill E. Urquhart; Eamonn O'Donoghue; A. Fiona Spencer; Emma M. Wade; Forbes D. C. Manson; Graeme C. M. Black
TAGS: open-angle glaucoma, family, genetic linkage analysis
Invest. Ophthalmol. Vis. Sci.. 2011; 52(11):7859-7865. https://doi.org/10.1167/iovs.10-6581

Retinal Cell Biology May 2011

Functional Characterization of Bestrophin-1 Missense Mutations Associated with Autosomal Recessive Bestrophinopathy

PDF

Alice E. Davidson; Ian D. Millar; Rosemary Burgess-Mullan; Geoffrey J. Maher; Jill E. Urquhart; Peter D. Brown; Graeme C. M. Black; Forbes D. C. Manson
TAGS: autosomal recessive inheritance, catabolism, missense mutation, mutation, transfection, proteins, chlorides, western blotting, fluorescent antibody technique
Invest. Ophthalmol. Vis. Sci.. 2011; 52(6):3730-3736. https://doi.org/10.1167/iovs.10-6707

Retina January 2006

Developmental and Tissue Expression of Xenopus laevis RPGR

PDF

Xinhua Shu; Zhihong Zeng; Marion S. Eckmiller; Phillipe Gautier; Dafni Vlachantoni; Forbes D. C. Manson; Brian Tulloch; Colin Sharpe; Dariusz C. Gorecki; Alan F. Wright
TAGS: body tissue, dna, complementary, proteins, renal cell carcinoma, xenopus laevis, eye, reverse transcriptase polymerase chain reaction, photoreceptors, rna, in situ hybridization
Invest. Ophthalmol. Vis. Sci.. 2006; 47(1):348-356. https://doi.org/10.1167/iovs.05-0858

Retina October 2004

Mutations of VMD2 Splicing Regulators Cause Nanophthalmos and Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC)

PDF

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
TAGS: microphthalmos, mutation, rna splicing, family, vitelliform dystrophy
Invest. Ophthalmol. Vis. Sci.. 2004; 45(10):3683-3689. https://doi.org/10.1167/iovs.04-0550

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