2004/2005 Publications Page

 

 

 

DEWAR, KEN

International Human Genome Sequencing Consortium (2004). Finishing the Euchromatic Sequences of the Human Genome. Nature 431: 931-945.

Bradley J. , Baltus A. , Skaletsky H. , Royce-Tolland M. , Dewar K. and Page D. C. (2004) An X-to-autosome retrogene required for spermatogenesis in mice, and independently retroposed homologues in diverse eutheria. Nature Genetics 36:872-876

Askew D.J., Askew Y.S., Kato Y,Turner R.F., Dewar K, Lehoczky J, Silverman G.A. (2004) Comparative genomic analysis of the clade B serpin cluster at human chromosome 18q21: Amplification within the mouse squamous cell carcinoma antigen gene locus. Genomics 84:176-184

Stojanovic, N. and Dewar, K. (2004) Identifying Multiple Alignment Regions Satisfying Simple Formulas and Patterns. Bioinformatics 20:2140-2142

Chiu, C., Dewar, K., Wagner, G.P., Takahashi, K., Ruddle, F., Ledje, C., Bartsch, P., Scemana, J.-L., Stellwag, E., Fried, C., Prohaska, S.J., Stadler, P.F. and Amemiya, C.T. (2004) Bichir HoxA Cluster Sequence Reveals Surprising Trends in Ray-finned Fish Genomic Evolution. Genome Research 14 (1): 11-17

Bouchard, L., Weisnagel, S.J., Engert, J.C., Hudson, T.J., Bouchard, C., Vohl, M.C., Perusse, L. Human resistin gene polymorphism is associated with visceral obesity and fasting and oral glucose stimulated C-peptide in the Québec Family Study. Journal of Endocrinological Investigation, 27: 1003-1009, 2004.

 

FOULKES, WILLIAM

Thiffault I, Hamel N, Pal T, McVety S, Marcus VA, Farber D, Cowie S, Deschenes J, Meschino W, Odefrey F, Goldgar D, Graham T, Narod S, Watters AK, MacNamara E, Sart DD, Chong G, Foulkes WD. Germline truncating mutations in both MSH2 and BRCA2 in a single kindred. Br J Cancer 90:483-491, 2004.

Foulkes WD. BRCA1 functions as a breast stem cell regulator. J Med Genet 41:1-5, 2004.

Al Moustafa AE, Foulkes WD, Benlimame N, Wong A, Yen L, Bergeron J, Batist G, Alpert L, Alaoui-Jamali MA. E6/E7 proteins of HPV type 16 and ErbB-2 cooperate to induce neoplastic transformation of primary normal oral epithelial cells. Oncogene 23:350-8, 2004.

Bouchard L, Blancquaert I, Eisinger F, Foulkes WD, Evans G, Sobol H, Julian-Reynier C. Prevention and genetic testing for breast cancer: variations in medical decisions. Soc Sci Med 58:1085-96, 2004.

Robson ME, Chappuis PO, Satagopan J, Wong N, Boyd J, Goffin JR, Hudis C, Roberge D, Norton L, Begin LR, Offit K, Foulkes WD. A combined analysis of outcome following breast cancer: differences in survival based on BRCA1/BRCA2 mutation status and administration of adjuvant treatment. Breast Cancer Res 6:R8-R17, 2004.

Foulkes WD, Brunet JS, Stefansson IM, Straume O, Chappuis PO, Begin LR, Hamel N, Goffin JR, Wong N, Trudel M, Kapusta L, Porter P, Akslen LA. The Prognostic Implication of the Basal-Like (Cyclin high/p27low/p53+/Glomeruloid-Microvascular-Proliferation+) Phenotype of BRCA1-Related Breast Cancer Cancer Res 64:830-835, 2004.

Foulkes WD, Metcalfe K, Sun P, Hanna WM, Lynch HT, Ghadirian P, Tung N, Olopade OI, Weber BL, McLennan J, Olivotto IA, Begin LR, Narod SA. Estrogen receptor status in BRCA1- and BRCA2-related breast cancer: the influence of age, grade, and histological type. Clin Cancer Res 10:2029-34, 2004.

Ghadirian P, Lubinski J, Lynch H, Neuhausen SL, Weber B, Isaacs C, Baruch RG, Randall S, Ainsworth P, Freidman E, Horsman D, Tonin P, Foulkes WD, Tung N, Sun P, Narod SA. Smoking and the risk of breast cancer among carriers of BRCA mutations. Int J Cancer 110: 413-6, 2004.

Metcalfe K, Lynch HT, Ghadirian P, Tung N, Olivotto I, Warner E, Olopade OI, Eisen A, Weber B, McLennan J, Sun P, Foulkes WD, Narod SA. Contralateral breast cancer in BRCA1 and BRCA2 mutation carriers. J Clin Oncol 22:2328-35, 2004.

Al Moustafa AE, Foulkes WD, Wong A, Jallal H, Batist G, Yu Q, Herlyn M, Sicinski P, Alaoui-Jamali MA. Cyclin D1 is essential for neoplastic transformation induced by both E6/E7 and E6/E7/ErbB-2 cooperation in normal cells. Oncogene 23: 5252-6, 2004.

Thiffault I, Foulkes WD, Marcus VA, Farber D, Kasprzak L, MacNamara E, Wong N, Hutter P, Radice P, Bertario L, Chong G. Putative common origin of two MLH1 mutations in Italian-Quebec hereditary non-polyposis colorectal cancer families. Clin Genet 66:137-43, 2004.

Jernstrom H, Lubinski J, Lynch HT, Ghadirian P, Neuhausen S, Isaacs C, Weber BL, Horsman D, Rosen B, Foulkes WD, Friedman E, Gershoni-Baruch R, Ainsworth P, Daly M, Garber J, Olsson H, Sun P, Narod SA. Breast-feeding and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst 96:1094-8, 2004.

Brooks-Wilson AR, Kaurah P, Suriano G, Leach S, Senz J, Grehan N, Butterfield YS, Jeyes J, Schinas J, Bacani J, Kelsey M, Ferreira P, MacGillivray B, MacLeod P, Micek M, Ford J, Foulkes W, Australie K, Greenberg C, LaPointe M, Gilpin C, Nikkel S, Gilchrist D, Hughes R, Jackson CE, Monaghan KG, Oliveira MJ, Seruca R, Gallinger S, Caldas C, Huntsman D. Germline E-cadherin mutations in hereditary diffuse gastric cancer: assessment of 42 new families and review of genetic screening criteria. J Med Genet 41: 508-17, 2004.

Kotar K, Brunet JS, Moller P, Hugel L, Warner E, McLaughlin J, Wong N, Narod SA, Foulkes WD. Ratio of female to male offspring of women tested for BRCA1 and BRCA2 mutations.J Med Genet 41: e103, 2004.

Thiffault I, Schwartz CE, Der Kaloustian V, Foulkes WD. Mutation analysis of the tumor suppressor PTEN and the glypican 3 (GPC3) gene in patients diagnosed with Proteus syndrome Am J Med Genet 1: 123-7, 2004

Oros KK, Ghadirian P, Greenwood CM, Perret C, Shen Z, Paredes Y, Arcand SL, Mes-Masson AM, Narod SA, Foulkes WD, Provencher D, Tonin PN. Significant proportion of breast and/or ovarian cancer families of French Canadian descent harbor 1 of 5 BRCA1 and BRCA2 mutations. Int J Cancer 112: 411-9, 2004.

 

FUJIWARA, MARY

Ausseil, J., J.C. Loredo-Osti, A. Verner, C. Darmond-Zwaig, I. Maire, B. Poorthuis, O. van Diggelen, T.J. Hudson, T.M. Fujiwara, K. Morgan, and A.V. Pshezhetsky: Localization of a gene for mucopolysaccharidosis IIIC to the pericentromeric region of chromosome 8. Journal of Medical Genetics 41:941-945, 2004

Bichet, D.G., and T.M. Fujiwara: Invited Perspective: Reabsorption of sodium-chloride – lessons from the chloride channels. New England Journal of Medicine 350:1281-1283, 2004

Bichet, D.G., and T.M. Fujiwara: Invited Editorial: The quest for the gene responsible for medullary cystic kidney disease type 1. Kidney International 66:864-865, 2004

Pidasheva, S., D’Souza-Li, L., Canaff, L., Cole, D.E.C., and Hendy, G.N. CASRdb, calcium-sensing receptor locus-specific database for mutations causing familial (benign) hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism and autosomal dominant hypocalcemia. Human Mutat. 24:107-111, 2004.

Scillitani, A., Guarnieri, V., De Geronimo, S., Muscarella, L.A., Battista, C., D’Agruma, L., Bertoldo, F., kFlorio C., Minisola, S., Hendy, G.N., and Cole, D.E.C. Blood ionized calcium is associated with clustered polymorphisms in the carboxy-terminal tail of the calcium-sensing receptor. J. Clin. Endocrinol. Metab. 89:5634-5638, 2004.

Naito, J., Kaji, H., Sowa, H., Hendy, G.N., Sugimoto, T., Chihara, K. Menin suppresses osteoblast differentiation by antagonizing the AP-1 factor, JunD. J. Biol. Chem. Epub 2004 Nov 23.

Wystrychowski, A., Pidasheva, S., Canaff, L., Chudek, J., Kokot, F., Wiecek, A., Hendy, G.N. Functional characterization of calcium-sensing receptor codon 227 mutations presenting either as familial (benign) hypocalciuric hypercalcremia or neonatal hyperparathyroidism. J. Clin. Endocrinol. Metab. Epub 2004 Nov 30.

 

HUDSON, THOMAS

A. Poon, C. Laprise, M. Lemire, A. Montpetit, D. Sinnett, E. Schurr & T. J. Hudson (2004). Association of VDR Genetic Variants with Susceptibility to Asthma and Atopy. Manuscript in preparation. Am J Respir Crit Care Med. 2004 Nov 1;170(9):967-73.

J. Ausseil, J.C. Loredo-Osti, A. Verner, C. Darmond-Zwaig, I. Maire, B. Poorthuis, O.P. van Diggelen, T.J. Hudson, T.M. Fujiwara, K. Morgan, A.V. Pshezhetsky (2004). Localisation of a gene for mucopolysaccharidosis IIIC to the pericentromeric region of chromosome 8. Journal of Medical Genetics. 2004 Dec; 41(12):941-5.

J.C. Florez, M. Sjögren, N. Burtt, M. Orho-Melander, S. Schayer, M. Sun, P. Almgren, U. Lindblad, T. Tuomi, D. Gaudet, T.J. Hudson, M.J.Daly, K.G. Ardlie, J.N. Hirschhom, D. Altshuler & L.Groop (2004). Association testing in 9,000 people fails to confirm the association of the insulin receptor substrate-1 G972R polymorphism with Type 2 Diabetes. Diabetes 2004 53: 3313–3318.

T. Pastinen & Thomas J. Hudson (2004). Cis-Acting Regulatory Variation in the Human Genome. Science 2004 306: 647-650

M.-C. Vohl, R. Sladek, J. Robitaille, S. Gurd, P. Marceau, D. Richard, T.J. Hudson, & A. Tchernof (2004). A Survey of genes differentially expressed in subcutaneous and viceral adipose tissue in men.. Obesity Research 2004 August (12) 8: 1217-1222.

L. Bouchard, S.J. Weisnagel, J.C. Engert, T.J. Hudson, C. Bouchard, M-C. Vohl, and L. Pérusse(2004). Human resistin gene polymorphism is associated with visceral obesity and fasting and oral glucose stimulated C-peptide in the Québec Family Study. Journal of Endocrinological Investigation. 2004 September1, 27: 1003-1009.

S.L. Arcand,A-M. Mes-Masson, D.Provencher, T.J. Hudson & P.N. Tonin. (2004). Gene expression microarray analysis and genome databases facilitate the characterization of a chromosome 22 derived homogenously stained region. Molecular Carcinogenesis. 2004 September (1):17-38.

M. Lemire, N. M. Roslin, C. Laprise, T.J. Hudson & K. Morgan (2004). Transmission- ratio distortion and allele sharing in affected sib-pairs:a new linkage statistic with reduced bias, with application to chromosome 6q25.3. American Journal Medical Genetics 2004 September 75:571-586.

International HapMap Consortium, (T.J. Hudson, co-author among 173, is leader of the Canadian group and member of the Methods group). (2004). Integrating ethics and science in the International HapMap Project. Nature Reviews/Genetics 2004 June (5):467-475.

C.N. Pato, M.T. Pato, A. Kirby, T.L. Petryshen, H. Medeiros, C. Carvalho, A. Macedo, A. Dourado, I. Coelho, J. Valente, M.J.Soares, C.P. Ferreira, M. Lei, A. Verner, T.J. Hudson, C.P.Morely, J.L. Kennedy, M.H. Azevedo, M.J. Daly, P. Sklar (2004). Genome-wide scan in Portuguese Island families implicates multiple loci in bipolar disorder: fine mapping adds support on chromosomes 6 and 11. American Journal Medical Genetics 2004 May 15;127B(1):30-4.

T. Laitinen, A. Polvi, P. Rydman, J. Vendelin, V. Pulkkinen, P. Salmikangas, S. Mäkelä, M. Rehn, A. Pirskanen, A. Rautanen, M. Zucchelli, H. Gullstén, M. Leino, H. Alenius, T. Petäys, T. Haahtela, A. Laitinen, C. Laprise, T. J. Hudson, L. A. Laitinen, J. Kere (2004). Characterization of a common susceptibility locus for asthma-related traits. Science 2004 April (304) 300-307.

C. Laprise, R. Sladek, A. Ponton, M.C. Bernier, T.J. Hudson, M. Laviolette. Functional classes of bronchial mucosa genes that are differentially expressed in asthma. BMC Genomics. 2004 Mar 23 [Epub ahead of print]

P. Sklar, M.T. Pato, A. Kirby, T.L. Petryshen, H. Medeiros, C. Carvalho, A. Macedo, A. Dourado, I. CoelhoI, J. Valente, M.J. Soares, C.P. Ferreira, M. Lei, A. Verner, T.J. Hudson, C.P. Morley, J.L. Kennedy, M.H. Azevedo, E. Lander, M.J. Daly, C.N. Pato 2004. Genome-wide scan in portuguese island families identifies 5q31-5q35 as a susceptibility locus for schizophrenia and psychosis. Molecular Psychiatry. 2004 (9): 213-218.

J.C. Florez, N. Burtt, P.I.W. de Bakker , P. Almgren, T. Tuomi, J. Holmkvist, D. Gaudet, T. J. Hudson, S. F. Schaffner, M. J. Daly, J. N. Hirschhorn, L. Groop & D. Altshuler . Haplotype structures and genotype-phenotype correlations of the sulfonylurea receptor (SUR1) and the islet ATP-sensitive potassium channel (Kir6.1) gene region. Diabetes.

            2004 May; 53: 1360-1368

M. T. Mira, A. Alcaïs, N. V. Thuc, M. O. Moraes, C. Di Flumeri, V. H. Thai, M. C. Phuong, N. T. Huong, N. Ngoc Ba, P.X. Khoa, A. Alter, A. Montpetit, M. E. Moraes, J. R. Moraes, C. Doré, C. J. Gallant, P. Lepage, A. Verner, E. Van de Vosse, T. J. Hudson, L. Abel, E. Schurr (2004). Susceptibility to leprosy is associated with PARK2 and PACRG. Nature. 2004 February (427) 636-640.

T. Pastinen, R. Sladek, S. Gurd, A. Sammak, B. Ge, P. Lepage, K. Lavergne, A. Villeneuve,

 T. Gaudin, H. Brandstrom, A. Beck, A. Verner, J. Kingsley, E. Harmsen, D. Labuda, K. Morgan, M.-C. Vohl, A. K. Naumova, D. Sinnett, T. J. Hudson. A survey of genetic and epigenetic variation affecting human gene expression. Physiol Genomics 2004 Jan 15;16(2):184-93.

  1. Mullick, M. Elias, P. Harakidas, A. Marcil, M. Whiteway, B. Ge, T.J. Hudson, A. W. Caron, L. Bourget, S. Picard, O. Jovcevski, B. Massie, D.Y. Thomas. Gene expression in HL60 granulocytoids and human polymorphonuclear leukocytes exposed to candida albicans dagger. Infection and Immunity. 2004 Jan; 72(1):414-429.

 

MORGAN, KENNETH

Ausseil, J., J.C. Loredo-Osti, A. Verner, C. Darmond-Zwaig, I. Maire, B. Poorthuis, O. van Diggelen, T.J. Hudson, T.M. Fujiwara, K. Morgan, and A.V. Pshezhetsky: Localization of a gene for mucopolysaccharidosis IIIC to the pericentromeric region of chromosome 8. Journal of Medical Genetics 41:941-945, 2004

Lemire, M., N.M. Roslin, C. Laprise, T.J. Hudson, and K. Morgan: Transmission-ratio distortion and allele sharing in affected sib pairs: A new linkage statistic with reduced bias, with application to chromosome 6q25.3. American Journal of Human Genetics 75:571-586, 2004

Pastinen, T., R. Sladek, S. Gurd, A. Sammak, B. Ge, P. Lepage, K. Lavergne, A. Villeneuve, T. Gaudin, H. Brändström, A. Beck, A. Verner, J. Kingsley, E. Harmsen, D. Labuda, K. Morgan, M.-C. Vohl, A.K. Naumova, D. Sinnett, and T.J. Hudson: A survey of genetic and epigenetic variation affecting human gene expression. Physiological Genomics 16:184-193, 2004

 

ROSENBLATT, DAVID S.

Langbehn DR, Brinkman RR, Falush D, Paulsen JS, and an International Huntington’s Disease Collaborative Group: A new model for prediction of the age of onset and penetrance for Huntington’s disease based on CAG length. Clinical Genetics 65:267-277, 2004.

Lerner-Ellis J, Dobson CM, Wai T, Watkins D, Tirone JC, Leclerc D, Doré C, Lepage P, Gravel RA, and Rosenblatt DS: Mutations in MMAA gene in patients with the cblA disorder of vitamin B12 metabolism. Human Mutation 24:509-516, 2004.

Thomas MA, and Rosenblatt DS: Severe Methylenetetrahydrofolate Reductase Deficiency, in MTHFR Polymorphisms and Diseases. P.M. Ueland and R. Rozen (eds). Bioscience Publishers. 2004, pp 41-53.

 

TONIN, PATRICIA

Ghadirian P, Lubinski J, Lynch H, Neuhausen SL, Weber B, Isaacs C, Baruch RG, Randall S, Ainsworth P, Freidman E, Horsman D, Tonin P, Foulkes WD, Tung N, Sun P, Narod SA.. 2004 Smoking and the risk of breast cancer among carriers of BRCA mutations. Int J Cancer;110(3):413-6.

Samouelian V, Maugard CM, Jolicoeur M, Bertrand R, Arcand SL, Tonin PN, Provencher DM, Mes-Masson AM. 2004. Chemosensitivity and radiosensitivity profiles of four new human epithelial ovarian cancer cell lines exhibiting genetic alterations in BRCA2, TGFbeta-RII, KRAS2, TP53 and/or CDNK2A. Cancer Chemother Pharmacol. 2004. 54:497-504.

Oros KK, Ghadirian P, Greenwood CM, Perret C, Shen Z, Paredes Y, Arcand SL, Mes-Masson AM, Narod SA, Foulkes WD, Provencher D, Tonin PN. 2004. Significant proportion of breast and/or ovarian cancer families of French Canadian descent harbor 1 of 5 BRCA1 and BRCA2 mutations. Int J Cancer.112(3):411.

Arcand SL, Mes-Masson A-M, Provencher D, Hudson TJ, Tonin PN. 2004. Gene expression microarray analysis and genome databases facilitate the characterization of a chromosome 22 derived homogeneously staining region. Molec Carcinogen. 41(1):17-38.


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