2000/2001 Publications Page

ORIGINAL ARTICLES
BOOK CHAPTERS
ABSTRACTS

ORIGINAL ARTICLES

1. Alda M, Turecki G, Grof P, Cavazzoni P, Duffy A, Grof E, Lafrenière R, Ahrens B, Berghöfer A,  Müller-Oerlinghausen B, Dvoráková M, Libigerová E, Vojtechovský M, Zvolský P, Nilsson A, Prochazka H, Licht RW, Rasmussen NA, Schou M, Vestergaard P,  Holzinger A, Schumann C, Thau K, Rouleau GA.: Association and linkage studies of CRH and PENK genes in bipolar disorder: a collaborative IGSLi study. Am J Med Genet 96:178-181, 2000.

2. Altshuler D, Hirschhorn JN, Klannemark M, Lindgren CM, Vohl M-C, Nemesh J, Lane CR,  Schaffner FC, Bolk S, Brewer C, Tuomi T, Gaudet D, Hudson TJ, Daly M, Groop L & Lander ES.:  The common PPARgamma Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes. Nat Genet 26:76-80, 2000.

3. Anderson TJ, Elstein E, Haber  H, Charbonneau F: Comparative study of ACE-inhibition, angiotensin II antagonism, and calcium channel blockade on flow-mediated vasodilation in patients with coronary disease. J Am Coll Cardiol 35:60-66, 2000.

4. Arthus M-F, Lonergan M, Crumley MJ, Naumova AK, Morin D, De Marco LA, Kaplan BS, . Robertson GL, Sasaki S, Morgan K, Bichet DG and Fujiwara TM: Report of 33 novel AVPR2 mutations and analysis of 117 families with X-linked nephrogenic diabetes insipidus. J Am Soc Nephr 11:1044-1054, 2000.

5. Bétard C,  Rasquin-Weber A,  Brewer C, Drouin E, Clark S, Verner A, Darmond-Zwaig C, Fortin J, Mercier J, Chagnon P, Fujiwara TM, K. Morgan, Richter A, Hudson TJ and Mitchell GA: Localization of a recessive gene for North American Indian childhood cirrhosis to chromosome region 16q22 - and identification of a shared haplotype. Am J Hum Genet 67:222-228, 2000.

6. Blumen SC, Korczyn AD, Lavoie H, Medynski S, Chapman J, Asherov A, Nisipeanu P, Carasso RL, Bouchard JP, Tome FMS, Rouleau GA, Brais B.: Oculopharyngeal Muscular Dystrophy among Bukhara Jews is due to an old Founder Effect producing the (GCG)9 expansion in the PABP2 gene.  Neurology 55:12676-1270, 2000.

7. Calado A, Tome FM, Brais B, Rouleau GA, Kuhn U, Wahle E, Carmo-Fonseca M.: Nuclear inclusions in the oculopharyngeal muscular dystrophy consist of Poly(A) binding protein 2 aggregates which sequester poly(A) RNA. Hum Mol Genet 9:2321-2328, 2000.

8. Cantarovich M, Quantz M, Elstein E, Ergina P, Magnan C, de Varennes B: Neoral dose monitoring with cyclosporine 2-hour postdose levels in heart transplant patients receiving anti-thymocyte globulin induction. Transplant Proc 32:446-448, 2000.

9. Chang H, Hall GA, Geerts WH, Greenwood CMT, McLeod RS, Sher GD: Allogeneic red blood cell transfusion in an independent risk factor for the development of postoperative bacterial infections. Vox Sanguinis 78:13-18, 2000.

10. Chango A, Droesch S, Pfister M, Boisson F, Barbé F, Quillion D, Frémont S, Rosenblatt DS and Nicolas JP: The effect of 677C?T and 1298A?C mutations on plasma homocysteine and 5,10-methylenetetrahydrofolate reductase activity in healthy volunteers. Br J Nutr 83:593-596, 2000.

11. Chango A, Emery-Fillon N, Potier de Courcy G, Lambert D, Pfister M, Rosenblatt DS., Nicolas J-P.: A polymorphism (80G-->A) in the reduced folate carrier gene and its associations with folate status and homocysteinemia. Molec Genet Metabol 70:310-315, 2000.

12. Chappuis PO, Kapusta L, Bégin LR, Wong N, Brunet J-S, Narod SA, Slingerland J and Foulkes WD: Germline BRCA1/2 mutations and p27Kip1 protein levels independently predict outcome after breast cancer. J Clin Oncol 18: 4045-4052, 2000.

13. Ciani F, Donati MA,Tulli G, Poggtti GM, Pasquini E, Rosenblatt DS, and Zammarchi E:  Lethal late onset cblB methylmalonic aciduria. J Critical Care Med 28:2119-2121, 2000.

14. Denghien I, Joober R, Rouleau GA, Néri C.: Polyglutamine tracts in schizophrenia: gaining new insigts. Molecular Psychiatry 5:236-7, 2000.

15. Dion F, Mes-Masson A-M, Seymour RJ, Provencher D and Tonin PN: Allelotyping defines minimal imbalance at chromosomal region 17q25 in non-serous epithelial ovarian cancers. Oncogene 19: 1466-1472, 2000.

16. Duffy A, Turecki G, Grof P, Cavazzoni P, Grof E, Lafrenière R, Ahrens B, Berghöfer A,  Müller-Oerlinghausen B, Dvoráková M, Libigerová E, Vojtechovský M, Zvolský P, Nilsson A, Prochazka H, Licht RW, Rasmussen NA, Schou M, Vestergaard P,  Holzinger A, Schumann C, Thau K, Rouleau GA, Alda M.: Association and linkage studies of candidate genes involved in GABAergic neurotransmission in lithium responsive bipolar disorder. J Psychiatry Neurosci 25:353-358, 2000.

17. Engert JC, Bérubé P, Mercier J, Doré C, Lepage P, Ge B, Bouchard J-P, Mathieu J, Melançon SB,  Schalling M, Lander ES, Morgan K, Hudson TJ and Richter A: ARSACS, a spastic ataxia common in northeastern Quebec, is caused by mutations in a new gene encoding an 11.5-kb ORF. Nat Genet 24:120-125, 2000.

18. Foulkes WD, Chappuis PO, Wong N, Brunet J-S, Vesprini D, Rozen F, Yuan ZQ, Pollak MN, Kuperstein G, Narod SA and Bégin LR. Primary node negative breast cancer in BRCA1 mutation carriers has a poor outcome. Ann Oncol 11: 307-313, 2000.

19. Furakawa Y, Guttman M, Sparagana SP, Trugman J, Hyland K, Wyatt P, Land AE, Rouleau GA, Shimadzu M, Kish SJ.: Dopa-responsive dystonia due to a large deletion in the GTP cyclohydrozylase I gene. Ann Neuro 47:517-520, 2000.

20. Gaspar C, Jannatipour M, Dion P, Laganiere J, Sequeiros J, Brais B, Rouleau GA.: CAG tract of MJD-1 may be prone to frameshifts causing polyalanine accumulation. Hum Mol Genet 9:1957-66, 2000.

21. Gaudet D, Hudson TJ & Laberge C.: From community genetics to community genomics:  The Quebec Experience. Community Genetics 3:134-140, 2000.

22. Gaudet D, Arseneault S, Pérusse L, Vohl MC, St-Pierre J, Bergeron J, Després J-P, Dewar K, Daly MJ, Hudson TJ & Rioux JD.: Glycerol as a correlate of impaired glucose tolerance: dissection of a complex system using a simple genetic trait. Am J Hum Genet 66:1558-1568, 2000.

23. Giguère Y, Dodin S, Blanchet C, Morgan K and  Rousseau F: The association between heel ultrasound and hormone replacement therapy is modulated by a two-locus vitamin D and estrogen receptor genotype. J Bone Mineral Res 15:1076-1084, 2000.

24. Greenwood CMT and Morgan K: The impact of transmission ratio distortion on allele sharing in affected sibling pairs.  Am J Hum Genet 66:2001-2004, 2000.

25. Greenwood CMT, Fujiwara TM, Boothroyd LJ, Miller MA, Frappier D, Fanning EA, Schurr E and  Morgan K:  Linkage of tuberculosis to chromosome 2q35 loci, including NRAMP1, in a large aboriginal Canadian family. Am J Hum Genet 67:405-416, 2000.

26. Hamel N, Black MJ, Ghadirian P and Foulkes WD: No association between p53 codon 72 polymorphism and risk of squamous cell carcinoma of the head and neck. Br J Cancer 82:757-759, 2000.

27. Hamel N, Karimi S, Hébert M-N, Brunet J-S, Gilfix B, Ghadirian P, Black MJ, Narod SA, Foulkes WD.: Increased risk of head and neck cancer in asspciation with GSTT1  nullizygosity for individuals with low exposure to tobacco. Int J Cancer. 87:452-454, 2000.

28. Hayes S, Turecki G, Brisebois K, Lopes-Cendes I, Gaspar C, Riess O, Ranum LPW, Pulst S-M, Rouleau GA.: CAG repeat length in RAI1 is associated with age at onset variability in spinocerebellar ataxia type 2 (SCA2). Hum Mol Genet 9:1753-1758, 2000.

29. Joober R, Benkelfat C, Lal S, Bloom D, Labelle A, Lalonde P, Turecki G, Rozen R, Rouleau GA.:  Association between the methylenetetrahydrofolate reductase 677C?T missense mutation and schizophrenia. Molecular Psychiatry 5:323-326, 2000.

30. Joober R, Toulouse A, Benkelfat C, Lal S, Bloom D, Labelle A, Lalonde P, Turecki G, Rouleau GA.: DRD3 and DAT1 genes in schizophrenia: an association study. J Psychiatr Res 34:285-291, 2000.

31. Khoris J, Moulard B, Briolotti V, Hayer M, Durieux A, Clavelou P, Malafosse A, Rouleau GA, Camu W.: Coexistence of dominant and recessive familial amyotrophic lateral sclerosis with the D90A Cu,Zn superoxide dismutase mutation within the same country. Eur J Neurol 7:207-211, 2000.

32. Kibar Z, Dubé M-P, Powel J, McCuaig, Zonana J, Hayflick SJ, Hovnanian A, Radhakrishna U, Antonarakis SE, Benohanian A, Sheeran AD, Stephan ML, Gosselin R, Kelsell DP, Christianson AL, Fraser FC, Der Kaloustian VM, Rouleau GA.: Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French-Canadian population and fine genetic mapping.  Eur J Hum Genet 8:372-380, 2000.

33. Knight SJL, Lese CM, Precht KS, Kuc J, Ning Y, Lucas S, Regan R, Brenan M, Nicod A, Lawrie NM, Cardy DLN, Nguyen H, Hudson TJ, Riethman HC, Ledbetter DH & Flint J.: An optimized set of human telomere clones for studying telomere integrity and architecture. Am J Hum Genet 67:320-332, 2000.

34. Kuperstein G, Foulkes WD, Ghadirian P, Hakimi J and Narod SA. A rapid fluorescent multiplexed-PCR analysis (FMPA) for founder mutations in the BRCA1 and BRCA2 genes. Clin Genet 57:213-220, 2000.

35. Lamartine J, Laoudj D, Blanchet-Bardon C, Kibar Z, Soularue P, Ridoux V, Dubertret L, Rouleau GA, Waksman G.: Refined localization of the gene for Clouston Syndrome (Hidrotic Ectodermal Dysplasia) in a large French family. Br J Dermatology 142:248-242, 2000.

36. Lamartine J, Pitaval A, Soularue P, Lanneluc I, Lemaitre G, Kibar Z, Rouleau GA, Waksman G.:  A 1.5-Mb physical map of the hidrotic ectodermal dysplasia (Clouston syndrome) gene region on human chromosome 13q11. Genomics 67:232-236, 2000.

37. Lamartine J, Essenfelder GM, Kibar Z, Lanneluc I, Callouet E, Laoudj D, Lemaître G, Hand C, Hayflick SJ , Zonana J, Antonorakis S, Kelsell DP, Christianson AL, Pitaval A, Der Kaloustian V, Fraser C, Blanchet-Bardon C, Rouleau GA, Waksman G.: Mutations in GJB6 cause hidrotic ectodermal dysplasia. Nat Genet 26:142-144, 2000.

38. Lee P & Hudson TJ.: La puce à ADN en médecine et en science. Méd/Sci 16:43-49, 2000.

39. Legoix P, Der Sarkissian H, Cazes L, Giraud S, Sor F, Rouleau GA, Lenoir G, Thomas G, Zucman-Rossi J.: Molecular characterization of germline NF2 gene rearrangements. Genomics 65:62-66, 2000.

40. Lindblad-Toh K, Tanenbaum DM, Daly MJ, Winchester E, Liu W-O, Villapakkam A, Stanton SE, Larsson C, Hudson TJ, Johnson BE, Lander ES & Meyerson M.: Loss-of-heterozygosity analysis of small-cell lung carcinomas using single nucleotide polymorphism arrays.  Nat Biotech 18:1001-1005, 2000.

41. Lindblad-Toh K, Winchester D, Daly MJ, Wang DG, Hirschhorn NJ, Laviolette J-P, Ardlie K, Reich DE, Robinson E, Sklar P, Shah N, Thomas D, Fan J-B, Gingeras T, Warrington J, Patil N, Hudson TJ & Lander ES.: Large-scale discovery and genotyping of single nucleotide polymorphisms in the mouse. Nat Genet 24:381-386, 2000.

42. Liu G, Ghadirian P, Vesprini, D, Hamel N, Paradis A-J, Lal G, Gallinger S, Narod SA and Foulkes WD. Polymorphisms in GSTM1, GSTT1 and CYP1A1 and risk of pancreatic cancer. Br J Cancer 82:1646-9, 2000.

43. Lopes-Cendes I, Scheffer IE, Berkovic SF, Rousseau M, Andermann E, Rouleau GA.: A new locus for idiopathic generalized epilepsy maps to chromosome 2. Am J Hum Genet 66:698-701, 2000.

44. Manderson EN, Mes-Masson A-M, Provencher D, Tonin PN.: Mutations in a 10 bp-polyadenine repeat of TGF-ß-RII in RER+ human epithelial ovarian cancer. Clin Genet. 57:151-153, 2000.  

45. Marquet S, Lepage P, Hudson TJ, Musser JM & Schurr E.: Complete nucleotide sequence and genomic structure of the human NRAMP1 gene region on Chromosome region 2q35. Mammalian Genome 11:755-762, 2000.

46. Metcalfe K, Liede A, Hoodfar E, Scott A, Foulkes WD and Narod SA: An evaluation of needs among female BRCA1 and BRCA2 mutation carriers undergoing genetic counselling. J Med Genet 37:866-874, 2000.

47. Minassian BA, Ianzano L, Meloche M, Andermann E, Rouleau GA, Delgado-Escueda AV, Scherer SW.: Mutation spectrum and predicted function of laforin in Lafora's progressive myoclonus epilepsy.  Neurology 55:341-346, 2000.

48. Narod SA, Brunet S-B, Ghadirian P, Robson M, Heimdal K, Neuhausen SL, Stoppa-Lyonnet D, Lerman C, Pasini B, de los Rios P, Weber B, Lynch H, the Hereditary Breast Cancer Clinical Study Group. Tamoxifen and risk of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers: a case-control study. Lancet 356:1876-1881, 2000.

49. Nimgaonkar VL, Fujiwara TM, Dutta M, Wood J, Gentry K, Maendel S, Morgan K and Eaton J: Low prevalence of psychoses among the Hutterites, an isolated religious community. Amer J  Psychiatry. 157:1065-1070, 2000.

50. O'Neil WM, Gilfix BM, Markoglu N, Di Girolamo A, Tsoukas CM and Wainer IW.: Genotype and phenotype of cytochrome P450 2D6 in HIV-positive patients and patients with AIDS. Eur J Clin Pharmacology. 56:231-240, 2000.

51. Pei Y, Greenwood CMT, Chery A and Wu G:  Racial differences in cardiovascular disease burden and mortality in patients on dialysis. Kidney International 58:1293-1299, 2000.

52. Provencher DM, LounisH, Champoux L, Tetrault M, Manderson E, Wang JC, Eydoux P, Savoie R, Tonin PN and Mes-Masson A-M: Characterization of four novel epithelial ovarian cancer cell lines. In Vitro Cell Dev Biol Animal 36:357-361, 2000.

53. Rahman N, Arbour L, Houlston R, Bonaïti-Pellié C, Abidi F, Tranchemontagne J, Ford D, Narod SA, Pritchard-Jones K, Foulkes WD, Schwartz C and Stratton MR. Penetrance of mutations in the familial Wilms tumor gene, FWT1. J Natl Cancer Inst 92:650-652, 2000.

54. Rapley E, Barfoot R, Bonaiti-Pellie C, Chompret A, Foulkes W, Perusinghe N, Reeve A, Royer-Pokora B, Schumacher V, Shelling A, Skeen J, de Tourreil S, Weirich A, Pritchard-Jones K, Stratton MR, Rahman N. Evidence for susceptibility genes to familial Wilms tumour in addition to WT1, FWT1and FWT2.Br J Cancer 83:177-83, 2000.

55. Rioux JD, Silverberg MS, Daly MJ, Steinhart AH, McLeod RS, Griffiths AM, Green T, Brettin TS,  Stone V, Bull SB, Bitton A, Williams CN, Greenberg GR, Cohen Z, Lander ES, Hudson TJ &  Siminovitch KA.: Genome-wide search in Canadian families with inflammatory bowel disease reveals two novel susceptibility loci. Am J Hum Genet 66:1863-1870, 2000.

56. Rosenblatt DS: The evolution of medicine --- a geneticist's point of view. Clin Invest Med 23:59-61, 2000.

57. Ross BM, Eder K, Moszczynska A, Mamalias N, Lamarche J, Ang L, Pandolfo M, Rouleau G, Kirchgessner M, Kish SJ.: Abnormal activity of membrane phospholipid synthetic enzymes in the brain of patients with Friedreich's ataxia and spinocerebellar atrophy type-1. Movement Disorders  15:294-300, 2000.

58. Shanmugam V, Dion P, Rochefort D, Laganiere J, Brais B, Rouleau GA. PABP2 polyalanine tract expansion causes intranuclear inclusions in oculopharyngeal muscular dystrophy. Ann Neuro 48:798-802, 2000.

59. Sibani S, Christensen B, O'Ferrall E, Saadi I, Hiou-Tim F, Rosenblatt DS and Rozen R: Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria. Hum Mutation.15:280-287, 2000.

60. Singh R, Eeles RA, Durocher F, Simard J, Edwards S, Badzioch M, Kote-Jarai Z, Teare D, Ford D, Dearnley D, Ardern-Jones A, Murkin A, Dowe A, Shearer R, Kelly J, The CRC/BPG UK Familial Prostate Cancer Study Collaborators, Labrie F, Easton D, Narod SA, Tonin PN and Foulkes WD:  High risk genes predisposing to prostate cancer development- do they exist? Prostate Cancer and Prostatic Diseases 3:241-247, 2000.

61. Turecki G, Alda M, Grof P, Cavazzoni P, Duffy A, Grof E, Lafrenière R, Joober R, Ahrens B, Berghöfer A, Müller-Oerlinghausen B, Dvoráková M, Libigerová E, Vojtechovský M, Zvolský P, Nilsson A, Prochazka H, Licht RW, Rasmussen NA, Schou M, Vestergaard P, Holzinger A, Schumann C, Thau K, Rouleau GA.: Polyglutamine coding genes in bipolar disorder: investigation of selected candidate loci. J Aff Disor 58:63-68, 2000.

62. Turecki G, Brière R, Dewar K, Lesage A, Séguin M, Chawky N, Vanier C, Alda M, Joober R, Benkelfat C, Rouleau GA.: Dr. Turecki and colleagues reply. Am J Psychiatry 1710-1711, 2000.

63. Vohl, M-C, Lepage P, Gaudet D, Brewer CG, Bétard C, Perron P, Houde G, Cellier C, Faith JM,  Després J-P, Morgan K and Hudson TJ: Molecular scanning of the human PPARa gene: association of the L162V mutation with hyperapobetalipoproteinemia. J Lipid Res 41:945-952, 2000.

64. Wang J-C, Mes-Masson A-M, Tonin PN, Provencher D and Eydoux P: Trisomy of chromosome 10 in two cases of ovarian epithelial carcinoma. Cancer Genet Cytogenet 118:65-68, 2000.

65. Watkins D, Matiaszuk N and Rosenblatt DS: Complementation studies in the cblA class of inborn errors of cobalamin metabolism: Evidence for interallelic complementation and for a new complementation class (cblH). J Med Genet 37:510-513, 2000.

66. Xu JF and International Consortium for Prostate Cancer Genetics (ICPCG). Combined Analysis of Hereditary Prostate Cancer Linkage to 1q24-25: Results from 772 Hereditary Prostate Cancer Families from the International Consortium for Prostate Cancer Genetics. Am J Hum Genet 66: 945-957, 2000 (WDF is a member of the ICPCG writing committee for this paper).

67. Yuan ZQ, Chong GL, Thompson-May S, Trifiro M, Khandjian EW, Rousseau F, Yandell D, McNamara E, Gordon PH and Foulkes WD. Analysis of the hMLH1 and hMSH2 genes in three Quebec families with Hereditary Non-Polyposis Colorectal Cancer. Ann Roy Coll Phys Surg Canada 33:287-291, 2000.

BOOK CHAPTERS

1.  Rosenblatt DS: Disorders of cobalamin and folate transport and metabolism, in Inborn Metabolic Diseases. J. Fernandes, J-M. Saudubray and G. van den Berghe (eds.) 3rd edition, Springer-Verlag Berlin Heidelberg, New York. 2000, Chapter 25 pp283-298.

ABSTRACTS

1. Chapman NH, Crumley J, Fujiwara TM, Morgan K and Thompson EA: Population history affects the expected number of ancestral chromosome segments. (Poster at the Annual Meeting of the American Society of Human Genetics, 3-7 October 2000, Philadelphia)  Am J Hum Genet 67(4-Suppl):234,  2000. 

2.  Chagnon P, Bétard C, Rasquin-Weber A, Brewer C, Drouin E, Clark S, Verner A, Darmond-Zwaig C, Fortin J, Mercier J, Morgan K, Fujiwara TM, Richter A, Hudson TJ and Mitchell GA: Localisation du gène responsable de NAIC sur le chromosome 16q22: une forme de cholestase progressive familiale fréquente chez les enfants Ojibway-Cree. Oral presentation by Pierre Chagnon at Génétique humaine au Québec: Qui fait quoi? Troisièmes Journées de Génétiques, Le Réseau de médecine génétique appliquée du FRSQ p. 16, 2000.

3. Engert JC, Bérube P, Mercier J, Doré C, Lepage P, Ge B, Bouchard JP, Mathieu J, Melançon SB, Schalling M, Lander ES, Morgan K, Hudson TJ and Richter A: ARSACS, a spastic ataxia common in the founder population of northeastern Quebec, is caused by mutations in a novel gene encoding a gigantic exon with an 11.5 kb open reading frame. Journées Scientifiques 2000, Centre de recherche du Centre hospitalier de l'Université de Montréal, 7-8 February 2000, Montréal, Programme p. 17, 2000.

4. Engert JC, Vohl M-C, Lepage P, Doré C, Brewer C, Frappier D, Verner A, Platko J, Rioux J, Gaudet D, Morgan K and Hudson TJ: A genome-wide scan for CHD susceptibility in the Saguenay-Lac-Saint-Jean region of Quebec.  Am J Hum Genet 67(4-Suppl):303, 2000.

5. Frosk P, Greenberg CR, Hitchon C, Canvin JMG, Weiler T, Sudha T, Morgan K, Fujiwara TM, Wrogemann K: Low serum creatine kinase can be seen in LGMD2H individuals with co-existing rheumatoid arthritis. Am J Hum Genet 67(4-Suppl):283, 2000.

6. Ghadirian P, Narod S, Brunel JS, Perret C, Foulkes WD, Tonin PN: Risk of other cancers among French Canadians family members of BRCA1 and BRCA2 gene carriers. Am J Hum Genet 67(4-Suppl):499, 2000.

7. Gilfix BM, Hsiung EMW, Elstein E.: Levels of aminothiols in heart transplant patients. Transplantation 69 (8): S237, 2000.

8. Gilfix BM, Hsiung EMW, Elstein E.: Determination of the levels of aminothiols in plasma and urine following reduction with tris(carboxyethyl)phosphine. American Association of Clinical Chemistry. 52nd Annual Meeting & Clin Lab Expo,  July 23-27, 2000.

9. Goobie SL, Popovic M, Morrison MJ, Ellis L, Ginzberg H, Bétard C, Brewer C, Hudson TJ,  Fujiwara TM, K. Morgan, P. Durie, and J.M. Rommens: Mapping of the major locus for Shwachman-Diamond syndrome at 7p12-q11. Human Genome Meeting Programme & Abstract Book, p. 76, 2000. 

10. Greenwood CMT and Morgan K: Model-free linkage analysis incorporating disease epidemiology.  Genet Epidemio 19:251-252, 2000.

11. Greenwood CMT, Fujiwara TM, Schurr E and K. Morgan: Tuberculosis susceptibility is linked to chromosome 2q at NRAMP1 in a large aboriginal Canadian family. Human Genome Meeting 000 Programme & Abstract Book, p. 51, 2000.

12. Greenwood CMT, Loredo-Osti JC, Roslin NM, Crumley MJ, Brewer CG, Fujiwara TM and  Morgan K: The potential uses of too much ancestral information. Genetic Analysis Workshop 12(1):136-140, 2000.

13. Hamel N, Ghadirian P, Paradis A-J, Robidoux A, Potvin C, Cantin J, Tonin PN, Chappius, Foulkes WD. 2000. Prevalence of founder BRCA1 and BRCA2 mutations in French Canadian women with breast cancer unselected for age or family history. Génétique humaine au Québec: Qui Fait Quoi?, Troisièmes Journées Génétiques, Réseau de médecine génétique appliquée du FRSQ.

14. Hamel N, Ghadirian P, Paradis A-J, Robidoux A, Potvin C, Cantin J, Kuperstien G, Tonin PN, Deschênes J, Chappius PO, Foulkes WD. 2000 Prevalence of founder BRCA1 and BRCA2 mutations in French Canadian women with breast cancer unselected for age or family history. Am J Hum Genet 67(4-Suppl):398, 2000.

15. Landry K, Seyrantepe V, Chang Y, Ausseil J, Morzol N, Rosenblatt DS and Pshezhetsky A: Proteomic maps of lysosomal membranes as a tool to study the molecular basis of lysosomal transport diseases. Am J Hum Genet 67 (4-Suppl):386, 2000.

16. Laprise C, Murphy J, Brewer C, Morgan K, Fortin J, Bétard C, Verner A, Faith J, Gagné D, Bégin P and Hudson TJ: A genome-wide search for asthma susceptibility loci in a French-Canadian founder population.  Am J Respiratory Critical Care Med 161(3):A601, 2000.

17. Manderson E, Mes-Masson A-M, Novak J, Lee P, Provencher D, Hudson T, Tonin P. 2000. Analyse de l'expression différentielle de gènes localisés sur le chromosome 3p dans les adénocarcinomes ovariens par la technologies des Abiopuces   A D N. ACFAS.

18. Manderson E, Mes-Masson A-M, Novak J, Lee P, Provencher D, Hudson T, Tonin PN. 2000. Analysis of expression of genes which map to chromosome 3p in epithelial ovarian cancer using DNA microarrays. Society of Obstetricians & Gynecologists of Canada, ACM.

19. Nadeau JH, Ernest SE, Christensen B, Hosack A and Rosenblatt DS: Genetic controls of homocysteine metabolism in mice: interacting pathways and expression profiles. Am J Hum Genet 67 (4-Suppl):344, 2000.

20. Nikkel SM, Mhanni A, Dilling L, Seargeant L, Stobart K, Rosenblatt DS, Gorlin JB, Korson MS, Greenberg CR, and Prasad C.: Methylmalonic aciduria, hyperhomocysteinemia, and/or neurologic abnormalities in 3 infants born to mothers with asymptomatic B12 deficiency. Genet in Med 2:29, 2000.

21. Pavia C, Oriola J, Kasprzak L, Villabona C, Nolet S, Foulkes WD, Rivera-Fillat F: Familial Medullary Thyroid Carcinoma with the V804M Mutation in the Proto-Oncogene RET: Findings in One Family. Hormone Research 53 (S2):158, 2000.

22. Presneau, N, Mes-Masson A-M, Jaroslav N, Lee P, Provencher D, Hudson T, Tonin PN. Etude de l'expression differentialle de genes localises sur le chromosome 17 dans les adenocarcinomes ovariens par la technologie des puces à AND.2000. Génétique humaine au Québec: Qui Fait Quoi?, Troisièmes Journées Génétiques, Réseau de médecine génétique appliquée du FRSQ

23. Presneau N, Mes-Masson A-M, Novak J, Lee P, Provencher D, Hudson T, Tonin PN. 2000. Study of differential expression of genes located on chromosome 17 in epithelial ovarian cancer by DNA chips. Society of Obstetricians & Gynecologists of Canada, ACM.

24. Rosenblatt DS, Watkins D, and Matiaszuk N.:Vitamin B12-responsive methylmalonic aciduria due to a new inborn error of adenosylcobalamin synthesis, cblH. Genet in Med 2:73, 2000.

25. Rosenblatt DS, Guy M, Kim CD, Murray A, Hilton JF, Gravel RA, Wilson A, Shane B, Ru M: The molecular basis of cblG disease-four novel mutations in methionine synthase. Pediatr Res 47 (4):244A, 2000.

26. Rosenblatt DS, Guy M, Kim CD, Murray A, Hilton FJ, Gravel RA, Wilson A, Shane B and Ru M: The molecular basis of cblG disease-novel mutations in methionine synthase causing hyperhomocysteinemia. Qui fait quoi? Troisièmes Journées de Génétiques, Le Réseau de médecine génétique appliquée du FRSQ 11, 2000.

27. Rosenblatt DS:  What do rare inborn errors of metabolism teach us about activation of human methionine synthase? Am Chem Soc  Dec 2000.

28. Rosenblatt DS, Ru M, Ge B and Hudson TJ: P1173L is a recurrent mutation in the methionine synthase gene causing cblG hyperhomocysteinemia. Am J Hum Genet 67 (4-Suppl):277, 2000.

29. Rousseau F, Lévesque S, Dombrowski C and Morgan K: Génétique moléculaire et des populations du syndrome de l'X-fragile. Qui fait quoi? Troisièmes Journées de Génétiques, Le Réseau de médecine génétique appliquée du FRSQ Montreal, 4, 2000. 

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32. Tonin PN, Foulkes WD, Provencher D, Mes-Masson A-M, Narod SA, Ghadirian P. 2000. Contribution of founder BRCA1 and BRCA2 mutations in site-specific hereditary breast cancer (HBC) and families of French Canadian descent. Qui fait quoi? Troisièmes Journées de Génétiques, Le Réseau de médecine génétique appliquée du FRSQ, 2000.

33. Vohl M-C, Lepage P, Gaudet D, Brewer CG, Bétard G, Perron P, Houde G, Cellier C, Faith JM,  Després J-P, Morgan K and Hudson TJ: Association de la mutation L162V du gène PPAR-alpha à de l'hyperapo-bêtalipoprotéinémie.  Qui fait quoi? Troisièmes Journées de Génétiques, Le Réseau de médecine génétique appliquée du FRSQ 7, 2000.

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