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359 results

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Page 1
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: dube mp. Mol Vis. 2011;17:1850-61. Epub 2011 Jul 12. Mol Vis. 2011. PMID: 21850159 Free PMC article.
Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy.
Robitaille J, MacDonald ML, Kaykas A, Sheldahl LC, Zeisler J, Dubé MP, Zhang LH, Singaraja RR, Guernsey DL, Zheng B, Siebert LF, Hoskin-Mott A, Trese MT, Pimstone SN, Shastry BS, Moon RT, Hayden MR, Goldberg YP, Samuels ME. Robitaille J, et al. Among authors: dube mp. Nat Genet. 2002 Oct;32(2):326-30. doi: 10.1038/ng957. Epub 2002 Aug 12. Nat Genet. 2002. PMID: 12172548
Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates.
Lafreniere RG, MacDonald ML, Dube MP, MacFarlane J, O'Driscoll M, Brais B, Meilleur S, Brinkman RR, Dadivas O, Pape T, Platon C, Radomski C, Risler J, Thompson J, Guerra-Escobio AM, Davar G, Breakefield XO, Pimstone SN, Green R, Pryse-Phillips W, Goldberg YP, Younghusband HB, Hayden MR, Sherrington R, Rouleau GA, Samuels ME. Lafreniere RG, et al. Among authors: dube mp. Am J Hum Genet. 2004 May;74(5):1064-73. doi: 10.1086/420795. Epub 2004 Apr 1. Am J Hum Genet. 2004. PMID: 15060842 Free PMC article.
Human monogenic disorders - a source of novel drug targets.
Brinkman RR, Dubé MP, Rouleau GA, Orr AC, Samuels ME. Brinkman RR, et al. Among authors: dube mp. Nat Rev Genet. 2006 Apr;7(4):249-60. doi: 10.1038/nrg1828. Nat Rev Genet. 2006. PMID: 16534513 Review.
Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy.
Orr A, Dubé MP, Marcadier J, Jiang H, Federico A, George S, Seamone C, Andrews D, Dubord P, Holland S, Provost S, Mongrain V, Evans S, Higgins B, Bowman S, Guernsey D, Samuels M. Orr A, et al. Among authors: dube mp. PLoS One. 2007 Aug 1;2(8):e685. doi: 10.1371/journal.pone.0000685. PLoS One. 2007. PMID: 17668063 Free PMC article.
Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2.
Guernsey DL, Jiang H, Evans SC, Ferguson M, Matsuoka M, Nightingale M, Rideout AL, Provost S, Bedard K, Orr A, Dubé MP, Ludman M, Samuels ME. Guernsey DL, et al. Among authors: dube mp. Am J Hum Genet. 2009 Jul;85(1):120-9. doi: 10.1016/j.ajhg.2009.06.008. Epub 2009 Jul 2. Am J Hum Genet. 2009. PMID: 19576563 Free PMC article.
Partitioning of copy-number genotypes in pedigrees.
Perreault LP, Andelfinger GU, Asselin G, Dubé MP. Perreault LP, et al. Among authors: dube mp. BMC Bioinformatics. 2010 May 3;11:226. doi: 10.1186/1471-2105-11-226. BMC Bioinformatics. 2010. PMID: 20438641 Free PMC article.
Familial ventricular aneurysms and septal defects map to chromosome 10p15.
Tremblay N, Yang SW, Hitz MP, Asselin G, Ginns J, Riopel K, Gendron R, Montpetit A, Duhig E, Dubé MP, Radford D, Andelfinger G. Tremblay N, et al. Among authors: dube mp. Eur Heart J. 2011 Mar;32(5):568-73. doi: 10.1093/eurheartj/ehq447. Epub 2010 Dec 18. Eur Heart J. 2011. PMID: 21169613
359 results