2005/2006 Publications Page

 

 

Anderson SK, Dewar K, Goulet ML, Leveque G, Makrigiannis AP. Complete elucidation of a minimal class I MHC natural killer cell receptor haplotype. Genes Immun. 2005 Sep; 6(6): 481-92.

 

Arcand SL, Provencher D, Mes-Masson A-M, Tonin PN. 2005 OGG1 Cys326 variant, allelic imbalance of chromosome band 3p25.3 and TP53 mutations in ovarian cancer. Int J Oncol. 5:1315-20.

Arnes JB, Brunet JS, Stefansson I, Begin LR, Wong N, Chappuis PO, Akslen LA, Foulkes WD.  Placental cadherin and the basal epithelial phenotype of BRCA1-related breast cancer. Clin Cancer Res. 11(11): 4003-11, 2005.

Belanger H., Beaulieu P., Moreau C., Labuda D., Hudson T.J., Sinnett D. Functional promoter SNPs in cell cycle checkpoint genes. Hum Molec Genet. 14:2641-8, 2005.

 

Boycott, K.M., S. Flavelle, A. Bureau, H.C. Glass, T.M. Fujiwara, E. Wirrell, K. Davey, A.E. Chudley, J.N. Scott, D.R. McLeod, and J.S. Parboosingh: Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification. Am J Hum Genet. 77:477-483, 2005.

 

Callén E, Casado JA, Tischkowitz MD, Bueren JA, Creus A, Marcos R, Dasí A, Estella JM, Muñoz A, Ortega JJ, de Winter J, Joenje H, Schindler D, Hanenberg H, Hodgson SV, Mathew CG, Surrallés J. A common founder mutation in FANCA underlies the world highest prevalence of Fanconi anemia in Gypsy families from SpainBlood 2005 Mar 1; 105(5): 1946-9.

 

Caron, J., Loredo-Osti J.C., Morgan K., Malo D. Mapping of interactions and mouse congenic strains identified novel epistatic QTLs controlling the persistence of Salmonella enteritidis in mice. Genes Immun. 6:500-508, 2005.

 

Chappuis PO, Donato E, Goffin JR, Wong N, Begin LR, Kapusta LR, Brunet JS, Porter P, Foulkes WD. Cyclin E expression in breast cancer: predicting germline BRCA1 mutations, prognosis and response to treatment. Ann Oncol. 16 (5): 735-742, 2005.

 

Coelho JJ, Arnold A, Naylor J, Tischkowitz M, MacKay J. An assessment of the efficacy of cancer genetic counseling using real-time videoconferencing technology (Telemedicine) compared to face-to-face consultations. Eur J Cancer. 2005 41 (15): 2257-2261.

 

Collett K, Stefansson IM, Eide J, Braaten A, Wang H, Eide GE, Thoresen SO, Foulkes WD, Akslen LA.  A Basal epithelial phenotype is more frequent in interval breast cancers compared with screen detected tumors. Cancer Epidemiol Biomarkers Prev. 14 (5): 1108-12, 2005.

 

Croteau S., Roquis D., Charron M.C., Frappier D., Yavin D., Loredo-Osti J.C., Hudson T.J., Naumova A.K. (2005). Increased plasticity of genomic imprinting of Dlk1 in brain is due to genetic and epigenetic factors. Mamm Gen. Feb; 16(2): 127-35, 2005.

 

Cullinane CA, Lubinski J, Neuhausen SL, Ghadirian P, Lynch HT, Isaacs C, Weber B, Moller P, Offit K, Kim-Sing C, Friedman E, Randall S, Pasini B, Ainsworth P, Gershoni-Baruch R, Foulkes WD, Klijn J, Tung N, Rennert G, Olopade O, Couch F, Wagner T, Olsson H, Sun P, Weitzel JN, Narod SA.  Effect of pregnancy as a risk factor for breast cancer in BRCA1/BRCA2 mutation carriers. Int J Cancer. 117 (6): 988-91, 2005. 

 

Denarier E., Forghani R., Farhadi H., Dib S., Dionne N., Friedman H., Lepage P., Hudson T.J., Drouin R., Peterson A.C. Functional organization of a Schwann cell enhancer. J Neurosc. Nov 30; 25(48): 11210-7, 2005.

 

Desrosiers, M.-P., Kielczewska A., Loredo-Osti J.C., Girard Adam S., Makrigiannis A.P., Lemieux S., Pham T., Lodoen M.B., Morgan K., Lanier L.L., Vidal S.M. Epistasis between mouse Klra and major histocompatibility complex class I loci is associated with a new mechanism of natural killer cell-mediated innate resistance to cytomegalovirus infection. Nat Genet. 37:593-599, 2005.

 

Eisen A, Lubinski J, Klijn J, Moller P, Lynch HT, Offit K, Weber B, Rebbeck T, Neuhausen SL, Ghadirian P, Foulkes WD, Gershoni-Baruch R, Friedman E, Rennert G, Wagner T, Isaacs C, Kim-Sing C, Ainsworth P, Sun P, Narod SA. Breast cancer risk following bilateral oophorectomy in BRCA1 and BRCA2 mutation carriers: an international case-control study. J Clin Oncol. 23 (30): 7491-6, 2005.

 

Ernest S, Hosack A, O’Brien WE, Rosenblatt DS, and Nadeau JH: Homocysteine levels in A/J and C57BL/6J mice: genetic, diet, gender, and parental effects. Physiol Genom. 21(3): 404-410, 2005.

 

Ferrier DE, Dewar K, Cook A, Chang JL, Hill-Force A, Amemiya C. The chordate ParaHox cluster. Curr Biol. 2005 Oct 25; 15(20): R820-2.

 

Florez J.C., C.M. Agapakis, P. Burtt, M. Sun, P. Almgren, L. Rästam, T. Tuomi, D.Gaudet, T. J. Hudson, M. J. Daly, K. G. Ardlie, J. N. Hirschhorn, L. Groop and D. Altshuler (2005). Association testing of the protein tyrosine phosphatase 1B gene (PTPN1) with type 2 diabetes in 7,883 people. Diabetes. 54(6): 1884-91.

 

Foulkes WD, Hamel N, Oros KK, Tonin PN. 2005. Double heterozygosity and founder mutations in BRCA1/2 in women with ductal carcinoma in situ. JAMA. 294:553-4 [Letter to the editor].

 

Frosk, P.F., Greenberg C.R., Tennese A.A.P., Lamont R., Nylen E., Hirst C., Frappier D., Roslin N.M., Zaik M., Bushby K., Straub V., Zatz M., de Paula F., Morgan K., Fujiwara T.M., and Wrogemann K.W.: The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterite and other populations. Hum Mutat. 25:38-44, 2005.

 

Ge B., Gurd S., Gaudin T., Dore C., Lepage P., Harmsen E., Hudson T.J., Pastinen T. Survey of allelic expression using EST mining. Genome Res. Nov 15:1584-91, 2005.

 

Gilfix BM. Vitamin B12 and Homocysteine. CMAJ.  2005; 173(11): 1360.

 

Glass, H.C., Boycott K.M, Adams C., Barlow K., Scott J.N., Chudley A.E., Fujiwara T.M., Morgan K., Wirrell E., McLeod D.R.: Autosomal recessive cerebellar hypoplasia in the Hutterite population. Develop Med Child Neurol. 47:691-695, 2005.

 

Guigonis V, Frémeaux-Bacchi V, Giraudier S, Favier R, Borderie D, Massy Z, Mougenot, Rosenblatt DS, and Deschênes G: Late-onset thrombocytic microangiopathy caused by cblC disease: Associated with a factor H mutation. Am J Kidney Dis. 45(3): 588-595, 2005.

 

Hamet P., Merlo E., Seda O., Broeckel U., Tremblay J., Kaldunski M., Gaudet D., Bouchard G, Deslauriers B., Gagnon F., Antoniol G., Pausova Z., Labuda M, Jomphe M, Gossard F., Tremblay G., Kirova R., Tonellato P., Orlov S.N., Pintos J., Platko J., Hudson T.J., Rioux J.D., Kotchen T.A., Cowley A.W. Quantitative founder-effect analysis of French Canadian families identifies specific Loci contributing to metabolic phenotypes of hypertension. Am J Hum Genet. 2005 May; 76(5): 815-32. Epub 2005 Mar 30.

 

Honrado E, Osorio A, Palacios J, Milne RL, Sanchez L, Diez O, Cazorla A, Syrjakoski K, Huntsman D, Heikkila P, Lerma E, Kallioniemi A, Rivas C, Foulkes WD, Nevanlinna H, Benitez J. Immunohistochemical expression of DNA repair proteins in familial breast

cancer differentiate BRCA2-associated tumors. J Clin Oncol. 23 (30): 7503-11, 2005.

 

International HapMap Consortium, (Hudson TJ, co-author). A haplotype map of the human genome. Nature. Oct 437:1299-320, 2005.

 

Kotsopoulos J, Lubinski J, Lynch HT, Neuhausen SL, Ghadirian P, Isaacs C, Weber B, Kim-Sing C, Foulkes WD, Gershoni-Baruch R, Ainsworth P, Friedman E, Daly M, Garber JE, Karlan B, Olopade OI, Tung N, Saal HM, Eisen A, Osborne M, Olsson H, Gilchrist D, Sun P, Narod SA.  Age at menarche and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers. Cancer Causes Cont. 16 (6): 667-674, 2005.

 

Kotsopoulos J, Olopado OI, Ghadirian P, Lubinski J, Lynch HT, Isaacs C, Weber B, Kim-Sing C, Ainsworth P, Foulkes WD, Eisen A, Sun P, Narod SA. Changes in body weight and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers. Breast Cancer Res. 7 (5): R833-R843, 2005.

 

Laflamme, N, Giroux S, Loredo-Osti JC, Elfassihi L, Dodin S, Blanchet C, Morgan K, Giguère V, Rousseau F: A frequent regulatory variant of the estrogen-related receptor alpha gene associated with BMD in French-Canadian premenopausal women. J Bone Mineral. Res 20:938-944, 2005.

Lamont, R, Loredo-Osti JC, Roslin NM, Mauthe J, Coghlan G, Nylen E, Frappier D, Innes AM, Lemire EG, Lowry RB, Greenberg CR, Triggs‑Raine BL, Morgan K, Wrogemann K, Fujiwara TM, Zelinski T. A locus for Bowen-Conradi syndrome maps to chromosome region 12p13.3. Am J Med Genet. 132A: 136-143, 2005.

Lincoln M.R., Montpetit A, Cader MC, Saarela J, Dyment DA, Tiislar M, Ferretti V, Tienari PJ, Sadovnick AD, Peltonen L, Ebers CG, Hudson TJ. A predominant role for the HLA class II region in the association of the MHC region with multiple sclerosis. Nat Genet. 37:1108-12, 2005.

 

Loo VG, Poirier L, Miller MA, Oughton M, Libman MD, Michaud S, Bourgault AM, Nguyen T, Frenette C, Kelly M, Vibien A, Brassard P, Fenn S, Dewar K, Hudson TJ, Horn R, Rene P, Monczak Y, Dascal A. A predominantly clonal multi-institutional outbreak of Clostridium difficile-associated diarrhea with high morbidity and mortality. N Engl J Med. 2005 Dec 8; 353(23): 2442-9. Epub 2005 Dec 1.

 

Loredo-Osti, JC, Roslin NM, Tessier J, Fujiwara TM, Morgan K, Bonnardeaux A. Segregation of urine calcium excretion in families ascertained for nephrolithiasis: Evidence for a major gene. Kidney Int. 68:966-971, 2005.

 

Makrigiannis AP, Patel D, Goulet M-L, Dewar K, Anderson SK. Direct Sequence Comparison of Two Divergent Class I MHC Natural Killer Cell Receptor HaplotypesGenes Immun. 6: 71-83, 2005.

 

Makriyianni I, Hamel N, Ward S, Foulkes WD, Graw S.  BRCA1:185delAG found in the San Luis Valley probably originated in a Jewish founder. J Med Gene. 42 (5): e27, 2005 (WDF is corresponding author).

 

McVety S, Younan R, Li L, Gordon PH, Wong N, Foulkes WD, Chong G. Novel genomic insertion-- deletion in MLH1: possible mechanistic role for non-homologous end-joining DNA repair. Clin Genet. 68 (3): 234-238, 2005.

 

Morel CF, Scott P, Christensen E, Rosenblatt DS, Rozen R:  Prenatal diagnosis for severe methylenetetrahydrofolate reductase deficiency by linkage analysis and enzymatic assay.  Mol Genet Metab. 85(2): 115-120, 2005.

 

Morel CF, Watkins D, Scott P, Rinaldo P, Rosenblatt DS:  Prenatal diagnosis for methylmalonic acidemia and inborn errors of vitamin B12 metabolism and transport. Mol Genet Metab.  86:160-171, 2005.

 

Morgan NV, Essop F, Demuth I, de Ravel T, Jansen S, Tischkowitz M, Lewis CM, Wainwright L, Poole J, Joenje H, Digweed M, Krause A, Mathew CG. A common Fanconi anaemia mutation in Black populations of Sub-Saharan Africa. Blood. 1; 105(9): 3542-4, 2005.

 

New HV, Cale CM, Tischkowitz M, Flores De Laurnaga B, Jones A, Telfer P, Veys P, D’Andrea A, Mathew CG, Hann I. Nijmegen breakage syndrome diagnosed as Fanconi anaemia.  Pediatr Blood Cancer. 44(5): 494-9, 2005.

 

Nusbaum C, Zody MC, Borowsky ML, Kamal M, Kodira CD, Taylor TD, Whittaker CA, Chang JL, Cuomo CA, Dewar K, FitzGerald MG, Yang X, Abouelleil A, Allen NR, Anderson S, Bloom T, Bugalter B, Butler J, Cook A, DeCaprio D, Engels R, Garber M, Gnirke A, Hafez N, Hall JL, Norman CH, Itoh T, Jaffe DB, Kuroki Y, Lehoczky J, Lui A, Macdonald P, Mauceli E, Mikkelsen TS, Naylor JW, Nicol R, Nguyen C, Noguchi H, O'Leary SB, O'Neill K, Piqani B, Smith CL, Talamas JA, Topham K, Totoki Y, Toyoda A, Wain HM, Young SK, Zeng Q, Zimmer AR, Fujiyama A, Hattori M, Birren BW, Sakaki Y, Lander ES. DNA sequence and analysis of human chromosome 18. Nature. 2005 Sep 22; 437(7058): 551-5. Erratum in: Nature. 2005 Dec 1; 438(7068): 696. O'Neill, Keith [added].

 

Ouellet V, Provencher DM, Maugard CM, Le Page C, Ren F, Ren F, Lussier  C, Novak J, Ge  B, Hudson TJ, Tonin PN, Mes-Masson A-M. 2005. Discrimination between serous low malignant potential and invasive epithelial ovarian tumors using molecular profiling. Oncogene. 24: 4672-87.

 

Pastinen T, Ge B, Gurd S, Gaudin T, Dore C, Lemire M, Lepage P, Harmsen E and Hudson TJ. Mapping common regulatory variants to human haplotypes. Hum Molec Genet. 2005 Dec 15; 14(24): 3963-71. Epub 2005 Nov 21.

 

Pausova Z, Gaudet D, Gossard F, Bernard M, Kaldunski ML, Jomphe M, Tremblay J, Hudson TJ, Bouchard G, Kotchen TA, Cowley AW, Hamet P. Genome-wide scan for linkage to obesity-associated hypertension in French Canadians. Hypertension. Dec; 46: 1280 1285, 2005.

 

Poon AH, Laprise C, Lemire M, Hudson TJ, Schurr E. NRAMP1 is not associated with asthma, atopy, and serum immunoglobulin E levels in the French Canadian population. Genes Immun. 6(6): 519-27, 2005.

 

Presneau N, Dewar K, Forgetta V, Provencher D, Mes-Masson A-M, Tonin PN. 2005. Loss of heterozygosity and transcriptome analyses of a 1.2 Mb candidate ovarian cancer tumor suppressor locus region at 17q25.1-q25.2 Mol Carcinog. 43: 141-54.

 

Presneau N, Shen Z, Provencher D, Mes-Masson A-M, Tonin PN. 2005. Identification of novel variant, 1484delG in the 3'UTR of H3F3B, a member of the histone 3B replacement family, in ovarian tumors. Int J Oncol. 26: 1621-27.

Qu H, Bharaj B, Liu XQ, Curtis JA, Newhook LA, Paterson AD, Hudson TJ, Polychronakos C. Assessing the validity of the association between the SUMO4 M55V variant and risk of type 1 diabetes. Nat Genet. 2005 Feb; 37(2): 111-2, 2005.

Qu H, Tessier MC, Hudson TJ, Polychronakos C. Confirmation of the association of the R620W polymorphism in the protein tyrosine phosphatase PTPN22 with type 1 diabetes in a family based study. J Med Genet. 2005 Mar; 42(3): 266-270, 2005.

 

Rosel PE, Forgetta V, Dewar K. (2005). Isolation and characterization of twelve polymorphic microsatellite markers in bottlenose dolphins (Tursiops truncatus). Molec. Ecology Notes (in press).

 

Saba T, Montpetit A, Verner A, Rioux P, Hudson TJ, Drouin R, Drouin C. An atypical form of erythrokeratodermia variabilis maps to chromosome 7q22. Hum Genet. Feb; 116(3): 167-71, 2005. Epub 2004 Nov 25.

 

Serre D, Nadon R & Hudson TJ. Large-scale recombination rate patterns are conserved among human populations. Genome Res. Nov 15; 1547-1552, 2005.

 

Su Z, Segura M, Morgan K, Loredo-Osti JC, Stevenson MM. Impairment of protective immunity to blood-stage malaria by concurrent nematode infection. Infec Immun.73:3531-3539, 2005.

 

Sun S, Greenwood CM, Thiffault I, Hamel N, Chong G, Foulkes WD. The HNPCC associated MSH2*1906G-->C founder mutation probably originated between 1440 CE and 1715 CE in the Ashkenazi Jewish population. J Med Genet. 42 (10): 766-768, 2005.

 

Tessier M-C, Qu H, Fréchette R, Bacot F, Grabs R, Taback SP, Lawson M, Kirsch S, Hudson TJ, Polychronakos C. Type 1 diabetes and the OAS gene cluster: association with splicing polymorphism or haplotype? J Med Genet. 2005 July 13; [Epub ahead of print].

 

Tonin PN, Forgetta V, Provencher D, Presneau N, Mes-Masson A-M, Dewar K. (2005) Loss of heterozygosity and transcriptome analysesof a 1.2 Mb candidate ovarian cancer tumor suppressor locus region at 17q25.1-q25.2.  Molec Carcinogen. (In press).

 

van der Klift H, Wijnen J, Wagner A, Verkuilen P, Tops C, Otway R, Kohonen-Corish M, Vasen H, Oliani C, Barana D, Moller P, Delozier-Blanchet C, Hutter P, Foulkes WD, Lynch H, Burn J, Moslein G, Fodde R.  Molecular characterization of the spectrum of genomic deletions in the mismatch repair genes MSH2, MLH1, MSH6, and PMS2 responsible for hereditary nonpolyposis colorectal cancer (HNPCC). Genes Chromos Cancer.  44 (2): 123-38, 2005.

 

Weitzel JN, Robson M, Pasini B, Manoukian S, Stoppa-Lyonnet D, Lynch HT, McLennan J, Foulkes WD, Wagner T, Tung N, Ghadirian P, Olopade O, Isaacs C, Kim-Sing C, Moller P, Neuhausen SL, Metcalfe K, Sun P, Narod SA.  A comparison of bilateral breast cancers in BRCA carriers. Cancer Epidemiol Biomarkers Prev. 14 (6): 1534-8, 2005.

 

Winckler W, Graham RR, de Bakker PI, Sun M, Almgren P, Tuomi T, Gaudet D, Hudson TJ, Ardlie KG, Daly MJ, Hirschhorn JN, Groop L, Altshuler D. Association testing of variants in the hepatocyte nuclear factor 4{alpha} gene with risk of type 2 diabetes in 7,883 people. Diabet. Mar 54(3): 886-92, 2005.

 

Winckler W, Burtt NP, Holmkvist J, Cervin C, de Bakker PI, Sun M, Almgre P, Tuomi T, Gaudet D, Hudson TJ, Ardlie KG, Daly MJ, Hirschhorn JN, Altshuler D, Groop  L. Association of common variation in the HNF1 alpha gene region with risk of type 2 diabetes. Diabet. 54: 2336-42, 2005.

Xu J, Dimitrov L, Chang BL, Adams TS, Turner AR, Meyers DA, Eeles RA, Easton DF, Foulkes WD, Simard J, Giles GG, Hopper JL, Mahle L, Moller P, Bishop T, Evans C, Edwards S, Meitz J, Bullock S, Hope Q, Hsieh CL, Halpern J, Balise RN, Oakley-Girvan I, Whittemore AS, Ewing CM, Gielzak M, Isaacs SD, Walsh PC, Wiley KE, Isaacs WB, Thibodeau SN, McDonnell SK, Cunningham JM, Zarfas KE, Hebbring S,Schaid DJ, Friedrichsen DM, Deutsch K, Kolb S, Badzioch M, Jarvik GP, Janer M, Hood L, Ostrander EA, Stanford JL, Lange EM, Beebe-Dimmer JL, Mohai CE, Cooney KA, Ikonen T, Baffoe-Bonnie A, Fredriksson H, Matikainen MP, Tammela TLj, Bailey-Wilson J, Schleutker J, Maier C, Herkommer K, Hoegel JJ, Vogel W, Paiss T, Wiklund F, Emanuelsson M, Stenman E, Jonsson BA, Gronberg H, Camp NJ, Farnham J, Cannon-Albright LA, Seminara D; ACTANE Consortium.  A combined genomewide linkage scan of 1,233 families for prostate cancer-susceptibility genes conducted by the international consortium for prostate cancer genetics. Am J Hum Genet. 77 (2): 219-29, 2005.

Yotova V, Labuda D, Zietkiewicz E, Gehl D, Lovell A, Lefebvre JF, Bourgeois S, Lemieux-Blanchard E, Labuda M, Vezina H, Houde L, Tremblay M, Toupance B, Heyer E, Hudson TJ, Laberge C. Anatomy of a founder effect: myotonic dystrophy in Northeastern Quebec. Hum Genet.117: 177-87, 2005.

Zauber NP, Sabbath-Solitare M, Marotta S, Zauber AG, Foulkes WD, Chan M, Turner F, Bishop DT.  Clinical and genetic findings in an Ashkenazi Jewish population with colorectal neoplasms. Cancer. 15: 104 (4): 719-29, 2005.

 


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