Manson F - Search Results

1

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. Among authors: manson f. 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.

2

Identification of a novel gene, ETX1 from Xp21.1, a candidate gene for X-linked retintis pigmentosa (RP3).

Dry KL, Aldred MA, Edgar AJ, Brown J, Manson FD, Ho MF, Prosser J, Hardwick LJ, Lennon AA, Thomson K, et al. Dry KL, et al. Among authors: manson fd. Hum Mol Genet. 1995 Dec;4(12):2347-53. doi: 10.1093/hmg/4.12.2347. Hum Mol Genet. 1995. PMID: 8634709

3

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

4

Delineation of Cohen syndrome following a large-scale genotype-phenotype screen.

Kolehmainen J, Wilkinson R, Lehesjoki AE, Chandler K, Kivitie-Kallio S, Clayton-Smith J, Träskelin AL, Waris L, Saarinen A, Khan J, Gross-Tsur V, Traboulsi EI, Warburg M, Fryns JP, Norio R, Black GC, Manson FD. Kolehmainen J, et al. Am J Hum Genet. 2004 Jul;75(1):122-7. doi: 10.1086/422197. Epub 2004 May 12. Am J Hum Genet. 2004. PMID: 15141358 Free PMC article.

5

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. Invest Ophthalmol Vis Sci. 2004 Oct;45(10):3683-9. doi: 10.1167/iovs.04-0550. Invest Ophthalmol Vis Sci. 2004. PMID: 15452077

6

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

7

Inherited eye disease: cause and late effect.

Manson FD, Trump D, Read AP, Black GC. Manson FD, et al. Trends Mol Med. 2005 Oct;11(10):449-55. doi: 10.1016/j.molmed.2005.08.001. Epub 2005 Sep 8. Trends Mol Med. 2005. PMID: 16153893 Review.

8

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

9

Evidence of genetic heterogeneity in MRCS (microcornea, rod-cone dystrophy, cataract, and posterior staphyloma) syndrome.

Michaelides M, Urquhart J, Holder GE, Restori M, Kayali N, Manson FD, Black GC. Michaelides M, et al. Am J Ophthalmol. 2006 Feb;141(2):418-20. doi: 10.1016/j.ajo.2005.09.018. Am J Ophthalmol. 2006. PMID: 16458719

10

Intrafamilial phenotypic variability in families with RDS mutations: exclusion of ROM1 as a genetic modifier for those with retinitis pigmentosa.

Leroy BP, Kailasanathan A, De Laey JJ, Black GC, Manson FD. Leroy BP, et al. Among authors: manson fd. Br J Ophthalmol. 2007 Jan;91(1):89-93. doi: 10.1136/bjo.2006.101915. Epub 2006 Aug 17. Br J Ophthalmol. 2007. PMID: 16916875 Free PMC article.

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