2003/2004 Publications Page

ORIGINAL ARTICLES
BOOK CHAPTERS
ABSTRACTS
OTHERS

ORIGINAL ARTICLES

Abu-Baker A, Messaed C, Laganiere J, Gaspar C, Brais B, Rouleau GA: Involvement of the ubiquitin-proteasome pathway and molecular chaperones in oculopharyngeal muscular dystrophy (OPMD). Hum Mol Genet 12:2609-23, 2003.

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.

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.

Almqvist EW, Brinkman RR, Wiggins S, Hayden MR, and The Canadian Collaborative Study of Predictive Testing: Psychological consequences and predictors of adverse events in the first 5 years after predictive testing for Huntington’s disease. Clin Genet 64:300-309, 2003.

Askew DJ, Askew YS, Kato Y, Turner RF, Dewar K, Lehoczky J, Silverman GA: 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, 2004

Battersby BJ, Loredo-Osti JC*, and Shoubridge EA: Nuclear genetic control of mitochondrial DNA segregation. Nat Genet 33:183-186, 2003 (*co-authored by a postdoctoral fellow)

Bethin KE, Nagai Y, Sladek R, Asada M, Sadovsky Y, Hudson TJ & Muglia LJ: Microarray analysis of uterine gene expression in mouse and human pregnancy. Molecular Endocrinology 17:1454-1469, 2003.

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.

Bradley J, Baltus A, Skaletsky H, Royce-Tolland M, Dewar K and Page DC: An X-to-autosome retrogene required for spermatogenesis in mice, and independently retroposed homologues in diverse eutheria.  Nature Genetics 36:872-876, 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 41:508-517, 2004.

Chan EM, Bulman DE, Paterson AD, Turnbull J, Andermann E, Andermann F, Rouleau GA, Delgado-Escueta AV, Scherer SW, Minassian BA: Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2B) on 6p22.  J Med Genet 40:671-5, 2003.

Chan EM, Young EJ, Ianzano L, Munteanu I, Zhao X, Christopoulos CC, Avanzini G, Elia M, Ackerley CA, Jovic NJ, Bohlega S, Andermann E, Rouleau GA, Delgado-Escueta AV, Minassian BA, Scherer SW: Mutations in NHLRC1 cause progressive myoclonus epilepsy.  Nat Genet 35:125-7, 2003 Oct.

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

Cianflone K, Phelis S, Davignon J, Gilfix BM: ApoE phenotype influences plasma ASP in hyperapoB subjects. Atherosclerosis. 170:285-291, 2003.

Cossette P, Loukas A, Lafreniere RG, Rochefort D, Harvey-Girard E, Ragsdale DS, Dunn RJ, Rouleau GA:  Functional characterization of the D188V mutation in neuronal voltage-gated sodium channel causing generalized epilepsy with febrile seizures plus (GEFS).  Epilepsy Res 53:107-17, 2003.

Desautels A, Turecki G, Montplaisir J, Brisebois K, Desautels AK, Adam B, Rouleau GA: Analysis of CAG repeat expansions in restless legs syndrome.  Sleep 26:1055-7, 2003.

Devon R, Helm J, Rouleau G, Leitner Y, Lerman-Sagie T, Lev D, Hayden M: The first nonsense mutation in alsin results in a homogeneous phenotype of infantile-onset ascending spastic paralysis with bulbar involvement in two siblings. Clin Genet 64:210-215, 2003.

Dupre N, Howard HC, Mathieu J, Karpati G, Vanasse M, Bouchard JP, Carpenter S, Rouleau GA: Hereditary motor and sensory neuropathy with agenesis of the corpus callosum. Ann Neurol 54(1):9-18, 2003.

Dupre N, Verlaan DJ, Hand CK, Laurent SB, Turecki G, Davenport WJ, Acciarri N, Dichgans J, Ohkuma A, Siegel AM, Rouleau GA: Linkage to the CCM2 locus and genetic heterogeneity in familial cerebral cavernous malformation.  Can J Neurol Sci (30)122-128, 2003.

Edwards S, Meitz J, Eles R, Evans C, Easton D, Hopper J, Giles G, Foulkes WD, Narod S, Simard J, Badzioch M, Mahle L: International ACTANE Consortium. Results of a genome-wide linkage analysis in prostate cancer families ascertained through the ACTANE consortium. Prostate 57:270-279, 2003.

El-Maarri O, Seoud M, Coullin P, Herbiniaux U, Oldenburg J, Rouleau G, Slim R: Maternal alleles acquiring paternal methylation patterns in biparental complete hydatidiform moles. Hum Mol Genet 12:1405-13, 2003.

Elstein E, Elstein J: Hypertensive response to exercise may predict abnormalities on ambulatory blood pressure monitoring. Clin Invest Med 26:93, 2003.

Ernest S, Carter M, Hosack A, Rosenblatt DS, Ross E, and Nadeau JH: Nutrigenes, functional genomics and systems biology. J Nutr 133: 4267-4268, 2003.

Fan X, Messaed C, Dion P, Laganiere J, Brais B, Karpati G, Rouleau GA:  HnRNP A1 and A/B interaction with PABPN1 in oculopharyngeal muscular dystrophy. Can J Neurol Sci 30:244-51, 2003.

Fan X, Rouleau GA:  Progress in understanding the pathogenesis of oculopharyngeal muscular dystrophy. Can J Neurol Sci 30:8-14, 2003.

Farhadi HF, Lepage P, Forghani R, Friedman HC, Orfali W, Jasmin L, Miller W, Hudson TJ, Peterson AC: A combinatorial network of evolutionarily conserved myelin basic protein regulatory sequences confers distinct glial-specific phenotypes. J. of Neuroscience 23:10214–10223, 2003.

Florez JC, Burtt N, de Bakker PIW, Almgren P, Tuomi T, Holmkvist J, Gaudet D, Hudson TJ, Schaffner SF, Daly MJ, Hirschhorn JN, Groop L and Altshuler D: Haplotype structures and genotype-phenotype correlations of the sulfonylurea receptor (SUR1) and the islet ATP-sensitive potassium channel (Kir6.1) gene region. Diabetes. 53:1360-1368, 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, Hanna W, Lynch HT, Ghadirian P, Tung N, Olopade O, Weber B, McLennan J, Olivotto IA, Sun P, Chappuis PO, Bégin LR, Brunet J-S and Narod SA: Tumor Size is not Strongly Correlated with Lymph Node Status in Women with Breast Cancer and a BRCA1 Mutation. Cancer 98:1569-77, 2003.

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.

Foulkes WD, Stefansson IM, Chappuis PO, Bégin LR, Goffin JR, Wong N, Trudel M and Akslen LA: Germ-line BRCA1 mutations and the basal epithelial phenotype of breast cancer. J Natl Cancer Inst 95:1482-5, 2003.

Gagnon F, Bull SB, Morgan K, Rannala B, and Rousseau F: Genetic epidemiologic research using the Canadian National Birth Cohort platform: initiating the discussion. 2003.

Gauthier J, Joober R, Mottron L, Laurent S, Fuchs M, De Kimpe V, Rouleau GA:  Mutation screening of FOXP2 in individuals diagnosed with autistic disorder. Am J Med Genet 118:172-175, 2003.

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.

Gilfix BM: Hyperhomocysteinemia: genetic determinants and selected mouse models. Clin Invest Med 26:121-132, 2003.

Goffin JR, Chappuis PO, Bégin LR, Wong N, Brunet JS, Hamel N, Paradis AJ, Boyd J, Foulkes WD: Impact of germ-line BRCA1 mutations and over-expression of p53 on prognosis and response to treatment following breast carcinoma. Cancer 97:527-36, 2003.

Goffin JR, Straume O, Chappuis PO, Brunet J-S, Bégin LR, Hamel N, Wong N, Akslen LA and Foulkes WD: Glomeruloid microvascular proliferation is associated with p53 expression, germline BRCA1 mutations and an adverse outcome following breast cancer. Br J Cancer 89:1031-4, 2003.

Gros-Louis F, Laurent S, Lopes AA, Khoris J, Meininger V, Camu W, Rouleau GA: Absence of mutations in the hypoxia response element of VEGF in ALS.  Muscle Nerve 28:774-5, 2003.

Gros-Louis F, Meijer IA, Hand CK, Dube MP, MacGregor DL, Seni MH, Devon RS, Hayden MR, Andermann F, Andermann E, Rouleau GA:  An ALS2 gene mutation causes hereditary spastic paraplegia in a Pakistani kindred.  Ann Neurol 53:144-5, 2003.

Guillem JG, Rapaport BS, Kirchhoff T, Kolachana P, Nafa K, Glogowski E, Finch R, Huang H, Foulkes WD, Markowitz A, Ellis NA, Offit K: A636P is associated with early-onset colon cancer in Ashkenazi Jews. J Am Coll Surg 196:222-5, 2003.

Halford SE, Sawyer EJ, Lambros MB, Gorman P, Macdonald ND, Talbot IC, Foulkes WD, Gillett CE, Barnes DM, Akslen LA, Lee K, Jacobs IJ, Hanby AM, Ganesan TS, Salvesen HB, Bodmer WF, Tomlinson IP, Roylance RR: MSI-low, a real phenomenon which varies in frequency among cancer types. J Pathol 201:389-394, 2003.

Hamel N, Kotar K, Foulkes WD: Founder mutations in BRCA1/2 are not frequent in Canadian Ashkenazi Jewish men with prostate cancer. BMC Med Genet 4:7, 2003.

Hand CK, Devon RS, Gros-Louis F, Rochefort D, Khoris J, Meininger V, Bouchard JP, Camu W, Hayden MR, Rouleau GA: Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis.  Arch Neurol 60:1768-71, 2003.

Harding CO, Pillers DA, Steiner RD, Bottiglieri T, Rosenblatt DS, Debley J, and Gibson KM: Potential for misdiagnosis due to lack of  combined methylmalonic aciduria/hyperhomocysteinemia (cblC) in the neonate. J Perinatal 23:384-386, 2003.

Hashibe M, Brennan P, Strange RC, Bhisey R, Cascorbi I, Lazarus P, Oude Ophuis MB, Benhamou S, Foulkes WD, Katoh T, Coutelle C, Romkes M, Gaspari L, Taioli E and Boffeta P: Meta and pooled analyses of GSTM1, GSTT1,GSTP1, CYP1A1 genotypes and the risk of head and neck cancer. Cancer Epidemiol Biomarker Prev 12:1509-17, 2003.

Hilton JF, Christensen KE, Watkins D, Raby BA, Renaud Y, de la Luna S, Estivill X, MacKenzie RE, Hudson TJ, Rosenblatt DS: The molecular basis of glutamate formiminotransferase deficiency. Hum Mutations. 22:67-73,  2003.

Howard HC, Dupre N, Mathieu J, Bouchard JP, Rouleau GA: Severe neuropathy with agenesis of the corpus callosum. Medicine Sciences 19:414-6, 2003.

International HapMap Consortium, (Hudson TJ, co-author among 173, is leader of the Canadian group and member of the Methods group): The International HapMap Project. Nature 426:789-796, 2003.

Kaplan F, Comber J, Sladek R, Hudson TJ, Muglia LJ, Macrae T, Gagnon S, Asada M, Brewer JA, & Sweezey NB: The growth factor midkine is modulated by both glucocorticoid and retinoid in fetal lung development. Am J Resp Cell Molec Biol 28:33-41, 2003.

Karakiewicz PI, Foulkes W, Tanguay S, Elhilali MM, Aprikian AG: Familial prostate and breast cancer in men treated with prostatectomy for prostate cancer: a population based case-control study. J Urol 169:240-4, 2003.

Koenekoop RK, Loyer M, Hand CK, Al Mahdi H, Dembinska O, Beneish R, Racine J, Rouleau GA: Novel RPGR mutations with distinct retinitis pigmentosa phenotypes in French-Canadian families. Am J Ophthalmol 136:678-87, 2003.

Kotar K, Hamel N, Thiffault I, Foulkes WD: The RNASEL 471delAAAG allele and prostate cancer in Ashkenazi Jewish men. J Med Genet 40:e22, 2003.

Laurans MS, DiLuna ML, Shin D, Niazi F, Voorhees JR, Nelson-Williams C, Johnson EW, Siegel AM, Steinberg GK, Berg MJ, Scott RM, Tedeschi G, Enevoldson TP, Anson J, Rouleau GA, Ogilvy C, Awad IA, Lifton RP, Gunel M: Mutational analysis of 206 families with cavernous malformations.  J Neurosurg 99:38-43, 2003.

Lavoie H, Debeane F, Trinh QD, Turcotte JF, Corbeil-Girard LP, Dicaire MJ, Saint-Denis A, Page M, Rouleau GA, Brais B: Polymorphism, shared functions and convergent evolution of genes with sequences coding for polyalanine domains.  Hum Mol Genet 12:2967-79, 2003.

Leveque G, Forgetta V, Morroll S, Smith AL, Bumstead N, Barrow P, Loredo-Osti JC, Morgan K, and Malo D: Allelic variation in TLR4 is linked to susceptibility to Salmonella enterica serovar Typhimurium infection in chickens. Infection and Immunity 71:1116-1124, 2003.

Liquori CL, Berg MJ, Siegel AM, Huang E, Zawistowski JS, Stoffer T, Verlaan D, Balogun F, Hughes L, Leedom TP, Plummer NW, Cannella M, Maglione V, Squitieri F, Johnson EW, Rouleau GA, Ptacek L, Marchuk DA: Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations.  Am J Hum Genet 73:1459-64, 2003.

Lowry RB, Innes AM, Bernier FP, McLeod DR, Greenberg CR, Chudley AE, Chodirker B, Marles SL, Crumley MJ, Loredo-Osti JC, Morgan K, Fujiwara MJ: Bowen-Conradi syndrome: a clinical and genetic study. Am J Med Genet 120A:423-428, 2003.

Matakidou A, Hamel N, Polpat S, Henderson K, Kantemiroff T, Harmer C, Clarke SE, Houlston RS, Foulkes WD: Risk of non-medullary thryoid cancer influenced by polymorphic variation in the thyroglobulin gene. Carcinogenesis, 2003.

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.

Mira MT, Alcaïs A, Thuc NV, Moraes MO, Di Flumeri C, Thai VH, Phuong MC, Huong NT, Ngoc Ba N, Sarno EN, Alter A, Montpetit A, Moraes ME, Moraes JR, Doré C, Gallant CJ, Lepage P, Verner A, Van de Vosse E, Hudson TJ, Abel L, Schurr E: The 5-prime regulatory region shared by the PARK2 and PACRG genes is associated with susceptibility to leprosy. Nature 427:636-640, Feb. 2004.

Mira MT, Alcais A, Van Thuc N, Thai VH, Huong NT, Ba NN, Verner A, Hudson TJ, Abel L, Schurr E: Chromosome 6q25 is linked to susceptibility to leprosy in a Vietnamese population. Nature Genetics 33:412-415, 2003.

Mootha VK, Lepage P, Miller K, Bunkenborg J, Reich M, Hjerrild M, Delmonte T, Villeneuve A, Sladek R, Zhu F-H, Mitchell GA, Morin C, Mann M, Hudson TJ, Robinson B, Rioux JD & Lander ES: Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics. Proc Natl Acad Sci U S A. 100:605-10, Jan. 2003.

Mullick A, Elias M, Harakidas P, Marcil A, Whiteway M, Ge B, Hudson TJ, Caron AW, Bourget L, Picard S, Jovcevski O, Massie B, Thomas DY: Gene expression in HL60 granulocytoids and human polymorphonuclear leukocytes exposed to candida albicans dagger.  Infect Immun 72:414-429, 2004.

Namour F, Helfer A-C, Quadros EV, Alberto J-M, Bibi H, Orning L, Rosenblatt DS, and Guéant J-L: Transcobalamin deficiency due to activation of an intra exonic cryptic splice site. Br J Haematol 123:915-920, 2003.

Pastinen T, Sladek R, Gurd S, Sammak A, Ge B, Lepage P, Lavergne K, Villeneuve A, Gaudin T, Brandstrom H, Beck A, Verner A, Kingsley J, Harmsen E, Labuda D, Morgan K, Vohl M-C, Naumova AK, Sinnett D, Hudson TJ:  A survey of genetic and epigenetic variation affecting human gene expression.  Physiol Genomics 16:184-193, 2003.

Presneau N, Manderson EN, and Tonin PN: The quest for tumor suppressor gene phenotype. Curr Molec. Med.  3:605-629, 2003.

Presneau N, Mes-Masson A-M, Ge B, Provencher D, Hudson TJ, Tonin PN:  Patterns of expression of chromosome 17 genes in primary cultures of normal ovarian surface epithelia and epithelial ovarian cancer cell lines. Oncogene (Oncogenomics) 22:1568-79, 2003.

Presneau N, Mes-Masson A-M, Novak J, Lee PD, Provencher D, Hudson TJ, Tonin PN. Differential expression of 304 ESTs located on chromosome 17 in human epithelial ovarian cancer cell lines using DNA microarrays. Oncogene 22:1568-79, 2003.

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.

Segurado R, Detera-Wadleigh SD, Levinson DF, Lewis CM, Gill M, Nurnberger JI Jr, Craddock N, DePaulo JR, Baron M, Gershon ES, Ekholm J, Cichon S, Turecki G, Claes S, Kelsoe JR, Schofield PR, Badenhop RF, Morissette J, Coon H, Blackwood D, McInnes LA, Foroud T, Edenberg HJ, Reich T, Rice JP, Goate A, McInnis MG, McMahon FJ, Badner JA, Goldin LR, Bennett P, Willour VL, Zandi PP, Liu J, Gilliam C, Juo SH, Berrettini WH, Yoshikawa T, Peltonen L, Lonnqvist J, Nothen MM, Schumacher J, Windemuth C, Rietschel M, Propping P, Maier W, Alda M, Grof P, Rouleau GA, Del-Favero J, Van Broeckhoven C, Mendlewicz J, Adolfsson R, Spence MA, Luebbert H, Adams LJ, Donald JA, Mitchell PB, Barden N, Shink E, Byerley W, Muir W, Visscher PM, Macgregor S, Gurling H, Kalsi G, McQuillin A, Escamilla MA, Reus VI, Leon P, Freimer NB, Ewald H, Kruse TA, Mors O, Radhakrishna U, Blouin JL, Antonarakis SE, Akarsu N: Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorder. Am J Hum Genet 73:49-62, 2003.

Selzer RR, Rosenblatt DS, Laxova R, Hogan, K: Adverse effect of nitrous oxide in a child with 5,10-methylenetetrahydrofolate reductase deficiency. N Engl J Med.349:45-50, 2003.

Sequeira A, Kim C, Seguin M, Lesage A, Chawky N, Desautels A, Tousignant M, Vanier C, Lipp O, Benkelfat C, Rouleau G, Turecki G: Wolfram syndrome and suicide: Evidence for a role of WFS1 in suicidal and impulsive behavior. Am J Med Genet 119B:108-13, 2003.

Sibani S, Leclerc D, Weisberg IS, O’Ferrall E, Watkins D, Artigas C, Rosenblatt DS, and Rozen R: Characterization of mutations in severe methylenetetrahydrofolate reductase deficiency reveals an FAD-responsive mutation.  Hum Mutation 21:509-520, 2003.

Sklar P, Pato MT, Kirby A, Petryshen TL, Medeiros H, Carvalho C, Macedo A, Dourado A, Coelho I, Valente J, Soares MJ, Ferreira CP, Lei M, Verner A, Hudson TJ, Morley CP, Kennedy JL, Azevedo MH, Lander E, Daly MJ, Pato CN:  Genome-wide scan in Portuguese island families identifies 5q31-5q35 as a susceptibility locus for schizophrenia and psychosis. Mol Psychiatry. 9:213-218, 2003.

Stojanovic N and Dewar K: Identifying Multiple Alignment Regions Satisfying Simple Formulas and Patterns. Bioinformatics, 2004 (PubMed electronic pre-issue available at: http://bioinformatics.oupjournals.org/cgi/reprint/bth196v1.pdf).

Szijan I, Rochefort D, Bruder C, Surace E, Machiavelli G, Dalamon V, Cotignola J, Ferreiro V, Campero A, Basso A, Dumanski JP, Rouleau GA: NF2 tumor suppressor gene: a comprehensive and efficient detection of somatic mutations by denaturing HPLC and microarray-CGH. Neuromol Med 3:41-52, 2003.

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.

Toulouse A, Rochefort D, Roussel J, Joober R, Rouleau GA: Molecular cloning and characterization of human RAI1, a gene associated with schizophrenia. Genomics 8:162-71, 2003.

Turecki G, Sequeira A, Gingras Y, Seguin M, Lesage A, Tousignant M, Chawky N, Vanier C, Lipp O, Benkelfat C, Rouleau GA: Suicide and serotonin: Study of variation at seven serotonin receptor genes in suicide completers. Am J Med Genet 118B:36-40, 2003.

Yamamoto K, Cubells JF, Gelernter J, Benkelfat C, Lalonde P, Bloom D, Lal S, Labelle A, Turecki G, Rouleau GA, Joober R: Dopamine Beta-Hydroxylase (DBH) gene and schizophrenia phenotypic variability: A genetic association study.  Am J Med Genet 117B:33-8, 2003.

BOOK CHAPTERS

Carmel R, Rosenblatt DS: Disorders of cobalamin and folate metabolism, in Blood, Principles and Practice of Haematology (2nd ed), R.I. Handin, S.E.Lux, and T.P. Stossel, (eds). Lippincott Williams & Wilkins. 2003, pp 1361-1397.

Rezvani I, and Rosenblatt DS: An Approach to Inborn Errors of Metabolism, in Nelson Textbook of Pediatrics (17th ed), R.E. Behrman, R.M. Kliegman and H.B. Jenson (eds.) W.B. Saunders Company, Philadelphia, 2003, Chapter 74.3 pp 405-407; 74.6 pp 409-418.

Tonin PN. 2003. Evaluation and management of women with a strong family history of breast cancer. In ‘The Conservative Treatment of Early Breast Cancer’, G.C. Peltecu (Ed). 2003 pp 367-384. [published in Romanian ]

ABSTRACTS

Caron J, Loredo-Osti JC, Morgan K, Malo D. Genetics of host resistance to chronic Salmonella infection in mice. (Poster presentation at the 17th International Mouse Genome Conference, Braunschweig, Germany, 9-12 November 2003) Final Programme and Book of Abstracts, p. 163

Dean NL, Naumova AK, Morgan K, Tan SL, and Ao A: Transmission ratio distortion in the transmission of myotonic dystrophy alleles. (Poster at the European Society of Human Reproduction and Embryology, Madrid, 29 June – 2 July 2003.) Human Reproduction 18:186, 2003. Poster

Faith JM, Lemire M, Verner A, Darmond-Zwaig C, Platko J, Rioux J, Morgan K, Hudson TJ, Gaudet D, and Engert JC: A genome-wide scan for NIDDM susceptibility in the Saguenay-Lac-Saint-Jean region of Quebec. Genet Epidemiology 25:248, 2003. Poster

Frosk P, Greenberg CR, Poulin A, Lamont R, Nylen E, Zalik M, Straub V, Bushby K,  Frappier D, Roslin NM, Morgan K, Fujiwara TM, and Wrogemann K: A common founder mutation in FKRP causes limb girdle muscular dystrophy type 2I (LGMD2I) in both Hutterite and European populations. Am J Hum Genet 73:388, 2003. Poster

Kasprzak L, Tremblay F, Galvez M, Halwani F, and Foulkes WD: Invasive breast cancer following bilateral subcutaneous mastectomy in a BRCA2 mutation carrier. Am J Hum Genet 73: Poster presentation

Lamont RE, Nylen EG, Mauthe J, Coghlan G, Greenberg CR, Zelinski T, Wrogemann K, Triggs-Raine B, Frappier D, Roslin NM, Fujiwara TM, and Morgan K: Mapping a rare recessive lethal disorder in the Hutterite population using a small number of families. Poster Abstracts, p. 12, 2003. Poster

Lemire, M., Roslin NM, Laprise C, Hudson TJ, and Morgan K: The bias in allele sharing methods caused by transmission ratio distortion. Genet Epidemiology 25:258, 2003. Poster

Lerner-Ellis JP, Dobson CM, Wai T, Watkins D, Tirone JC, Dor C, Lepage P, Gravel RA, Rosenblatt DS: Mutation and biochemical analysis of patients belonging to the cblA complementation class of vitamin B12-dependent methylmalonic aciduria. Am J Hum Genet 73:459 (1696), 2003.

Loredo-Osti, JC, Fujiwara TM, and Morgan K: Altered states: even clones are not created equal. Poster Abstracts, p. 14, 2003. Poster

Roslin NR, Loredo-Osti JC, Morgan K, Tessier J and Bonnardeaux A. Heritability of urine calcium in French-Canadian families ascertained for kidney stones. Poster at Hôpital Maisonneuve-Rosemont 10e Journée Annuelle de la Recherche, Montreal, 6 June 2003, Abstract #33; and Roslin NR,  Loredo-Osti JC, Tessier J, Bonnardeaux A and Morgan K. Heritability of urine calcium in French-Canadian families ascertained for kidney stones (Poster at the 12th Annual Meeting of the International Genetic Epidemiology Society, Redondo Beach, California, 2-4 November 2003). Genetic Epidemiology 25:267, 2003; and Bonnardeaux AB, Roslin NR, Loredo-Osti JC, Tessier J and Morgan K. Heritability of urine calcium in French-Canadian families ascertained for kidney stones (Poster at the 36th Annual Meeting of the American Society of Nephrology, San Diego, 12-17 November). Journal of the American Society of Nephrology 14(Abstracts Issue):113A, 2003.

OTHERS

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

Pollak MN, Foulkes WD. Challenges to cancer control by screening. Nat Rev Cancer 3:297-303, 2003.


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