Manson FD - Search Results

1

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

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

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

4

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.

5

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

6

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

7

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.

8

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.

9

Left-sided embryonic expression of the BCL-6 corepressor, BCOR, is required for vertebrate laterality determination.

Hilton EN, Manson FD, Urquhart JE, Johnston JJ, Slavotinek AM, Hedera P, Stattin EL, Nordgren A, Biesecker LG, Black GC. Hilton EN, et al. Among authors: manson fd. Hum Mol Genet. 2007 Jul 15;16(14):1773-82. doi: 10.1093/hmg/ddm125. Epub 2007 May 21. Hum Mol Genet. 2007. PMID: 17517692

10

Biallelic mutation of BEST1 causes a distinct retinopathy in humans.

Burgess R, Millar ID, Leroy BP, Urquhart JE, Fearon IM, De Baere E, Brown PD, Robson AG, Wright GA, Kestelyn P, Holder GE, Webster AR, Manson FD, Black GC. Burgess R, et al. Among authors: manson fd. Am J Hum Genet. 2008 Jan;82(1):19-31. doi: 10.1016/j.ajhg.2007.08.004. Am J Hum Genet. 2008. PMID: 18179881 Free PMC article.

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