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Mutations in a novel serine protease PRSS56 in families with nanophthalmos.
Orr A, Dubé MP, Zenteno JC, Jiang H, Asselin G, Evans SC, Caqueret A, Lakosha H, Letourneau L, Marcadier J, Matsuoka M, Macgillivray C, Nightingale M, Papillon-Cavanagh S, Perry S, Provost S, Ludman M, Guernsey DL, Samuels ME. Orr A, et al. Among authors: guernsey dl. Mol Vis. 2011;17:1850-61. Epub 2011 Jul 12. Mol Vis. 2011. PMID: 21850159 Free PMC article.
Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome.
Guernsey DL, Matsuoka M, Jiang H, Evans S, Macgillivray C, Nightingale M, Perry S, Ferguson M, LeBlanc M, Paquette J, Patry L, Rideout AL, Thomas A, Orr A, McMaster CR, Michaud JL, Deal C, Langlois S, Superneau DW, Parkash S, Ludman M, Skidmore DL, Samuels ME. Guernsey DL, et al. Nat Genet. 2011 Feb 27;43(4):360-4. doi: 10.1038/ng.777. Nat Genet. 2011. PMID: 21358631
The role of Frizzled-4 mutations in familial exudative vitreoretinopathy and Coats disease.
Robitaille JM, Zheng B, Wallace K, Beis MJ, Tatlidil C, Yang J, Sheidow TG, Siebert L, Levin AV, Lam WC, Arthur BW, Lyons CJ, Jaakkola E, Tsilou E, Williams CA, Weaver RG Jr, Shields CL, Guernsey DL. Robitaille JM, et al. Among authors: guernsey dl. Br J Ophthalmol. 2011 Apr;95(4):574-9. doi: 10.1136/bjo.2010.190116. Epub 2010 Nov 21. Br J Ophthalmol. 2011. PMID: 21097938
91 results