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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
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. Among authors: manson fd. 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.
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.
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
Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum.
Boland E, Clayton-Smith J, Woo VG, McKee S, Manson FD, Medne L, Zackai E, Swanson EA, Fitzpatrick D, Millen KJ, Sherr EH, Dobyns WB, Black GC. Boland E, et al. Among authors: manson fd. Am J Hum Genet. 2007 Aug;81(2):292-303. doi: 10.1086/519999. Epub 2007 Jun 13. Am J Hum Genet. 2007. PMID: 17668379 Free PMC article.
64 results