Manson FD - Search Results

1

Developmental and tissue expression of Xenopus laevis RPGR.

Shu X, Zeng Z, Eckmiller MS, Gautier P, Vlachantoni D, Manson FD, Tulloch B, Sharpe C, Gorecki DC, Wright AF. Shu X, et al. Among authors: manson fd. Invest Ophthalmol Vis Sci. 2006 Jan;47(1):348-56. doi: 10.1167/iovs.05-0858. Invest Ophthalmol Vis Sci. 2006. PMID: 16384984

2

RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin.

Shu X, Fry AM, Tulloch B, Manson FD, Crabb JW, Khanna H, Faragher AJ, Lennon A, He S, Trojan P, Giessl A, Wolfrum U, Vervoort R, Swaroop A, Wright AF. Shu X, et al. Among authors: manson fd. Hum Mol Genet. 2005 May 1;14(9):1183-97. doi: 10.1093/hmg/ddi129. Epub 2005 Mar 16. Hum Mol Genet. 2005. PMID: 15772089

3

RPGR-associated retinal degeneration in human X-linked RP and a murine model.

Huang WC, Wright AF, Roman AJ, Cideciyan AV, Manson FD, Gewaily DY, Schwartz SB, Sadigh S, Limberis MP, Bell P, Wilson JM, Swaroop A, Jacobson SG. Huang WC, et al. Among authors: manson fd. Invest Ophthalmol Vis Sci. 2012 Aug 15;53(9):5594-608. doi: 10.1167/iovs.12-10070. Invest Ophthalmol Vis Sci. 2012. PMID: 22807293 Free PMC article.

4

Identification of a 5' splice site mutation in the RPGR gene in a family with X-linked retinitis pigmentosa (RP3).

Dry KL, Manson FD, Lennon A, Bergen AA, Van Dorp DB, Wright AF. Dry KL, et al. Among authors: manson fd. Hum Mutat. 1999;13(2):141-5. doi: 10.1002/(SICI)1098-1004(1999)13:2<141::AID-HUMU6>3.0.CO;2-Q. Hum Mutat. 1999. PMID: 10094550

5

Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus.

Lechner J, Porter LF, Rice A, Vitart V, Armstrong DJ, Schorderet DF, Munier FL, Wright AF, Inglehearn CF, Black GC, Simpson DA, Manson F, Willoughby CE. Lechner J, et al. Hum Mol Genet. 2014 Oct 15;23(20):5527-35. doi: 10.1093/hmg/ddu253. Epub 2014 Jun 3. Hum Mol Genet. 2014. PMID: 24895405 Free PMC article.

6

The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase.

Linari M, Ueffing M, Manson F, Wright A, Meitinger T, Becker J. Linari M, et al. Proc Natl Acad Sci U S A. 1999 Feb 16;96(4):1315-20. doi: 10.1073/pnas.96.4.1315. Proc Natl Acad Sci U S A. 1999. PMID: 9990021 Free PMC article.

7

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

Yardley J, Leroy BP, Hart-Holden N, Lafaut BA, Loeys B, Messiaen LM, Perveen R, Reddy MA, Bhattacharya SS, Traboulsi E, Baralle D, De Laey JJ, Puech B, Kestelyn P, Moore AT, Manson FD, Black GC. Yardley J, et al. Among authors: manson fd. Invest Ophthalmol Vis Sci. 2004 Oct;45(10):3683-9. doi: 10.1167/iovs.04-0550. Invest Ophthalmol Vis Sci. 2004. PMID: 15452077

8

A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3).

Meindl A, Dry K, Herrmann K, Manson F, Ciccodicola A, Edgar A, Carvalho MR, Achatz H, Hellebrand H, Lennon A, Migliaccio C, Porter K, Zrenner E, Bird A, Jay M, Lorenz B, Wittwer B, D'Urso M, Meitinger T, Wright A. Meindl A, et al. Nat Genet. 1996 May;13(1):35-42. doi: 10.1038/ng0596-35. Nat Genet. 1996. PMID: 8673101

9

Development of allele-specific gene-silencing siRNAs for TGFBI Arg124Cys in lattice corneal dystrophy type I.

Courtney DG, Atkinson SD, Moore JE, Maurizi E, Serafini C, Pellegrini G, Black GC, Manson FD, Yam GH, Macewen CJ, Allen EH, McLean WH, Moore CB. Courtney DG, et al. Among authors: manson fd. Invest Ophthalmol Vis Sci. 2014 Feb 18;55(2):977-85. doi: 10.1167/iovs.13-13279. Invest Ophthalmol Vis Sci. 2014. PMID: 24425855

10

Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy.

Davidson AE, Millar ID, Burgess-Mullan R, Maher GJ, Urquhart JE, Brown PD, Black GC, Manson FD. Davidson AE, et al. Among authors: manson fd. Invest Ophthalmol Vis Sci. 2011 Jun 1;52(6):3730-6. doi: 10.1167/iovs.10-6707. Invest Ophthalmol Vis Sci. 2011. PMID: 21330666

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