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1,823 results

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Novel mutations in the sacsin gene in ataxia patients from Maritime Canada.
Guernsey DL, Dubé MP, Jiang H, Asselin G, Blowers S, Evans S, Ferguson M, Macgillivray C, Matsuoka M, Nightingale M, Rideout A, Delatycki M, Orr A, Ludman M, Dooley J, Riddell C, Samuels ME. Guernsey DL, et al. Among authors: matsuoka m. J Neurol Sci. 2010 Jan 15;288(1-2):79-87. doi: 10.1016/j.jns.2009.09.034. Epub 2009 Nov 4. J Neurol Sci. 2010. PMID: 19892370
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: matsuoka m. 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.
Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4.
Guernsey DL, Jiang H, Hussin J, Arnold M, Bouyakdan K, Perry S, Babineau-Sturk T, Beis J, Dumas N, Evans SC, Ferguson M, Matsuoka M, Macgillivray C, Nightingale M, Patry L, Rideout AL, Thomas A, Orr A, Hoffmann I, Michaud JL, Awadalla P, Meek DC, Ludman M, Samuels ME. Guernsey DL, et al. Among authors: matsuoka m. Am J Hum Genet. 2010 Jul 9;87(1):40-51. doi: 10.1016/j.ajhg.2010.06.003. Am J Hum Genet. 2010. PMID: 20598275 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. Among authors: matsuoka m. Nat Genet. 2011 Feb 27;43(4):360-4. doi: 10.1038/ng.777. Nat Genet. 2011. PMID: 21358631
Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia.
Guernsey DL, Jiang H, Campagna DR, Evans SC, Ferguson M, Kellogg MD, Lachance M, Matsuoka M, Nightingale M, Rideout A, Saint-Amant L, Schmidt PJ, Orr A, Bottomley SS, Fleming MD, Ludman M, Dyack S, Fernandez CV, Samuels ME. Guernsey DL, et al. Among authors: matsuoka m. Nat Genet. 2009 Jun;41(6):651-3. doi: 10.1038/ng.359. Epub 2009 May 3. Nat Genet. 2009. PMID: 19412178
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: matsuoka m. Mol Vis. 2011;17:1850-61. Epub 2011 Jul 12. Mol Vis. 2011. PMID: 21850159 Free PMC article.
A 25-year clonal resurrection in adult T-cell leukemia-lymphoma relapse.
Utsunomiya A, Yasunaga JI, Tabuchi T, Nakano N, Odawara J, Kubota A, Tokunaga M, Miyazono T, Matsuoka M, Ito Y, Tashiro Y. Utsunomiya A, et al. Among authors: matsuoka m. Int J Hematol. 2024 Dec 25. doi: 10.1007/s12185-024-03901-1. Online ahead of print. Int J Hematol. 2024. PMID: 39719504
1,823 results