1995/1996 Publications Page

Journal Articles
Book Chapters


Christensen B: Folatmangel, kreft og medf_dte misdannelser: Er det en sammenheng? (Folate deficiency, cancer and birth defects: Is there a link?) J. Norweigian Med. Assoc. 116: 36-40, 1996.

Riudor E, Ribes A, P_rez-Cerd_ C, Arranz JA, Mora J, Yeste D, Castello F, Christensen B and S_vik O: Metabolic coma with ketoacidosis and hyperglycemia in 2-methylacetoacetyl-CoA thiolase deficiency. J. Inherited Metabolic Dis. 18: 748-749, 1995.

Elstein E: Molecular genetics of hypertrophic cardiomyopathy. Current Opinion Cardiology 10(3):293-298, 1995.

Foulkes WD, Stamp GWH, Afzsal S, Lalani N, McFarlane C, Trowsdale J and Campbell IG: MDM2 amplification is uncommon in ovarian carcinoma irrespective of TP53 status. Br. J. Cancer 72: 883-8, 1995.

Hosking L, Trowsdale J, Nicolai H, Solomon E, Foulkes WD, Stamp, G, Signer, E and Jeffreys A: A somatic BRCA1 mutation in a ovarian tumour. Nature Genet. 9:343-344, 1995.

Foulkes WD: Detection of prostate cancer. Br. Med. J. 310: 1139-40, 1995.

Foulkes W, Glendon G and Narod S: Screening for ovarian cancer. JAMA 274:383, 1995.

Foulkes WD, Brunet J-S, Kowalski LP, Narod SA and Franco EL: Family history is a risk factor for squamous carcinoma of the head and neck in Brazil: a case-control study. Int. J. Cancer, 63: 769-773, 1995.

IG Campbell, 31. Foulkes WD, Beynon G, Davis M and Englefield P: LOH and mutation analysis of CDKN2 in primary human ovarian cancers. Int. J. Cancer 63: 222-225, 1995.

Foulkes WD and Narod SA: Hereditary breast and ovarian cancer. Clin. Invest.Med. 18: 473-484, 1995.

Foulkes WD: A tale of four syndromes: familial adenomatous polyposis, Gardner syndrome, attenuated APC and Turcot syndrome. Q. J. Med. 88: 853-863, 1995.

Rhode BM, Arseneau P, Cooper BA, Katz M, Gilfix BM, MacLean LD. Vitamin B12 deficiency after gastric surgery for obesity. Amer. J. Clin. Nutr. 63:103-109, 1996.

Poirier J, Delisle M-C, Quirion R, Aubert I, Farlow M, Lahiri D, Hui S, Bertrand P, Nalbantoglu J, Gilfix BM, Gauthier S. Apolipoprotein E4 allele as a predictor of cholinergic deficits and treatment outcome in Alzheimer disease. Proc Natl Acad Sci USA 92: 12260-12264, 1995. Solymoss BC, Marcil M, Chaour M, Gilfix BM, Poitras A, Campeau L. Fasting hyperinsulinism, insulin resistance syndrome, and coronary artery disease in men and women. Amer. J. Cardiol. 76: 1152-1156, 1995.

Rhode BM, Tamim H, Gilfix BM, Sampalis JS, Nohr C, MacLean LD. Treatment of Vitamin B12 Deficiency after Gastric Surgery for Severe Obesity. Obesity Surgery 5: 154-158, 1995.

Beckers M-C, Yoshida S-I, Morgan K, Skamene E and Gros P: Natural resistance to infection with Legonella pneumophila: chromosomal localization of the Lgn1 susceptibility gene. Mammalian Genome 6:540-545, 1995

Bichet DG, Lonergan M, Arthus M-F, Fujiwara TM and Morgan K: Nephrogenic diabetes insipidus due to mutations in AVPR2 and AQP2. In Neurohypophysis: Recent Progress of Vasopressin and Oxytocin Research (T. Saito, K. Kurokawa, and S. Yoshido, editors), Elsevier: Amersterdam, pp. 605-613, 1995 (Proceedings of the 1st Joint World Congress of Neurohypophysis and Vasopressin, Tochigi, Japan, 16-21 July 1995; Excerpta Medica International Congress Series 1098)

Brais B, Xie Y-G, Sanson M, Morgan K, Weissenbach J, Korczyn AD, Blumen SC, Fardeau M, Tomé FMS, Bouchard J-P and Rouleau GA: The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac a and b myosin heavy chain genes on chromosome 14q11.2-q13. Human Molecular Genetics 4:429-434, 1995

De Braekeleer M, Daigneault J, Aubin G, Simard F, Allard C, Fujiwara TM, and Morgan K: Phenotype heterogeneity in CF sibs compound heterozygous for the G85E and 621+1G(r)T mutations. Clinical Genetics 47:110-111, 1995

Fujiwara TM, Morgan K, and Bichet DG: Molecular biology of diabetes insipidus. In Annual Review of Medicine: Selected Topics in the Clinical Sciences, edited by C.H. Coggins, E.W. Hancock, and L.J. Levitt, Vol. 46, pp. 331-43, 1995

Goldin LR, Bishop DT, Meyers DA, Morgan K, Rice JP and MacCluer JW (editors): Genetic Analysis Workshop 9: Analysis of Complex Oligogenic Traits. Genetic Epidemiology, vol. 12, no. 6, pp. iii-xxiii and 545-894, 1995

Liu J, Fujiwara TM, Buu NT, Sánchez FO, Cellier M, Paradis A-J, Frappier D, E. Skamene, P. Gros, Morgan K, and E. Schurr: Identification of polymorphisms and sequence variants in the human natural resistance-associated macrophage protein (NRAMP) gene. Amer. J.Hum. Genet. 56:845-853, 1995

Liu J, Stanton VP Jr., Fujiwara TM, Wang J-X, Rezonzew R, Crumley MJ, Morgan K,, Gros P, Housman D and Schurr E: Large scale cloning of human chromosome 2-specific yeast artificial chromosomes (YACs) using an interspersed repetitive sequences (IRS)-PCR approach. Genomics 26:178-191, 1995

Naumova AK, Olien l, Bird L, Slamka C, Fonseca M, Verner AE, Wang M, Leppert M, Morgan K and Sapienza C: Transmission-ratio distortion of X chromosomes among the male offspring of females with skewed X-inactivation. Developmental Genetics 17:198-205,1995

Pausova Z, Morgan K, Fujiwara TM and Hendy GN: Evolution of a repeat sequence in the parathyroid hormone-related peptide gene in primates. Mammalian Genome 6:408-414, 1995; 6:691, 1995

Rousseau F, Rouillard P, Morel M-L, Khandjian EW and Morgan K: Prevalence of carriers of premutation-size alleles of the FMR1 gene-and implications for the population genetics of the fragile X syndrome. Amer. J. Hum. Genet. 57:1006-1018, 1995

Wirth B, Hahnen E, Morgan K, DiDonato CJ, Dadze A, Rudnik-Schöneborn S, Simard LR, Zerres K and Burghes AHM: Allelic association and deletions in autosomal recessive proximal spinal muscular atrophy: association of marker genotype with disease severity and candidate cDNAs. Hum. Mol. Genet. 4:1273-1284, 1995

Goyette P, Frosst P, Rosenblatt DS and Rozen R: Seven novel mutations at the methylenetetrahydrofolate reductase (MTHFR) locus with genotype: phenotype correlations in severe MTHFR deficiency. Amer. J. Hum. Genet. 56:1052-1059, 1995.

Paltiel O, Falutz J, Veilleux M, Rosenblatt DS and Gordon K: Clinical correlates of subnormal vitamin B12 levels in patients infected with the human immunodeficiency virus. Amer. J. Hemat. 49:318-322, 1995.

Marineau C, Merel P, Rouleau GA and Thomas G: Le gene de la neurofibromatose de type 2. Med. Science. 11:35-42, 1995.

Twist EC, Casaubon LK, Ruttledge MH, Rao VS, Macleod PM Radvany J, Zhao Z, Rosenber RN, Farrer LA and Rouleau GA: Machado Joseph Disease maps to the same region of chromosome 14 as the spinocerebellar ataxia type 3 locus. Amer. J. Med. Genet. 32:25-31, 1995.

Campeau E, Watkins D, Rouleau GA, Babul R, Buchanan JA, Meschino W and DerKaloustian VM: Linkage analysis in the nail patella syndrome. Amer. J. Hum. Genet. 56:243-247, 1995.

Demczuk S, Aldeo R, Zucman J. Delattre O, Desmaze C, Dauphinot L, Jalbert P, Rouleau GA, Thomas G and Aurias A: Cloning of a balanced translocation breakpoint in the Digeorge syndrome critical region and isolation of a novel potential adhesion receptor gene in its vicinity. Hum. Mol. Genet. 4: 551-558, 1995.

Maciel P, Gaspar C, DeStefano A, Silveira I, Coutinho P, Radvany J, Dawson D, Sudarsky L, Guimaraes J, Loureiro L. Lopes-Cendes I, Rooke K, Rosenberg R, Macleod P, Farrer L, Sequeiros J and Rouleau GA: Correlation between CAG repeat length and clinical features in Machado-Joseph disease. Amer. J. Hum. Genet. 57:54-61, 1995.

Demcsuk S, Levy A, Aubry M, Croquette MF, Philip N, Prieur M, Sauer U, Bouvagnet P, Rouleau GA, Thomas G and Aurias A: Excess of deletions of maternal origin in the DIgeorge/Velo-Cardio-Facial syndrome. A study of 22 new patients and review of the literatiure. Hum. Genet. 96:9-13, 1995.

Lutchman M and Rouleau GA: The neurofibromatosis type 2 gene supressess growth in NIH 3T3 cells. Cancer Res. 55(11): 2270-2274, 1995.

Parboosingh JS, Rouleau GA, Meninger V, McKenna-Yasek D, Brown RH and Figelwicz DA: Absence of mutations in the Mn superoxide dismutase and catalase gene in familial amyotrophic lateral sclerosis. Neuromusc. Dis. 5: 7-10, 1995.

Pramatarova A, Figelwicz D, Krizus A, Han F, Brown R, Meininger V and Rouleau GA: Identification of new mutations in the Cu/Zn superoxide dismutase gene in patients with familial amyotrophic lateral sclerosos. Amer. J. Hum. Genet. 56: 592-596, 1995.

Gispert S, Lunkes A, Santos N, Orozco G, Ha-Hao D, Tatzlaff T, Aguiar, Torrens I, Heredero L, Brice A, Cancel G, Stevanin G, Vernant J, Durr A, Lepage-Lezin A, Belal S, Ben-Hamida M, Pulst S, Rouleau GA, weissenbach J, LePaslier D, Kucherlapati R, Montgomery K, Fukul K and Auburger G: Localisation of the candidate gene D-Amino acid oxidase outside the refined 1 centiMorgan region of spinocerebellar ataxia 2 (SCA2). Amer. J. Hum. Genet. 57:972-975, 1995.

Lafreniere R, De Jong P and Rouleau GA: A 405-kb cosmid contig and HindIII restrictin map of the progressive myoclonus epilepsy type 1 (EPM1) candidate region in 21q22.3. Genomics 29: 288-290, 1995.

Claudio JO, Lutchman M and Rouleau GA: Widespread but cell type-specific expression of the mouse neurofibromatosis type 2 gene. Neuroreport 6:1946-1947, 1995.

Fon E, Sarrazin J, Meunier C, Alarcia J, Shevell M, Philippe A, Leboyer M and Rouleau GA: Adenylosuccinate lyase (ADSL) and infantile autism: Absence of the previously reported point mutation. Amer. J. Med. Genet. (Neuropsych. Geneti.) 60:554-557, 1995.

DeStefano AL, Farrer LA, Maciel P, Gaspar C, Rouleau GA, Coutinho P and Sequeiros J:Gender equality in Machado-Joseph disease. Nat. Genet. 11:118-119, 1995.

Merel P, Hoang-Xuan K, Sanson M, Bijlsma E, Rouleau GA, Laurent-Puig P, Pulst S, Baser M, Lenoir G, Sterkers JM, Philippon J, Resche F, Mautner VF, Fischer G, Hulsebos T, Aurias A, Delattre O and Thomas G: Screening for germ-line mutations in the NF2 gene. Genes, Chrom. & Cancer 12:117-127, 1995.

Garofalo O, Figlewicz DA, Thomas SM, Butler R, Lebuis L, Rouleau GA, Meininger V and Leigh PN: Superoxide dismutase activity in lymphoblastoid cells from motor neuron disease/amyotrophic lateral sclerosis (MND/ALS) patients. J. Neurolog. Sci. 129(s): 90-92, 1995.

Silveira I, Lopes-Cendes I, Kish S, Maciel P, Gaspar C, Coutinho P, Botez M-I, Teive H, Arrunda W, Steiner CE, Pinto-Junior W, Maciel JA, Jain S, Sack aG, Andermann E, Sudarsky L, Rosenberg R, Macleod P, Chitayat D, Babul R, Sequeiros J and Rouleau GA. Frequency of spinocerebellar ataxia type 1. Dentatorubropallidoluysian atrophy and Machado-Jospeh disease mutations in a large group of spinocerebellar patients. Neurology 46:214-218, 1995.

Lopes-Cendes I, Phillips HA, Scheffer IE, Mulley JC, Desbiens R, Andermann E, Cendes F, Andermann F, Berkovic S and Rouleau GA: Genetic linkage studies in familial frontal epilespy: Exclusion of the human chromosome regions homologous to the EI-1 mouse locus. Epilepsy Res. 22:227-233, 1995.

Belliveau M. Lutchman M, Claudio J, Marineau C and Rouleau GA: Schwannomin: New insights into this member of the band 4.1 superfamily. Biochem. & Cell Biol. 73:733-737, 1995.

Rommens JM, Durocher F, McArthur J, Tonin P, LeBlanc J-F, Allen T, Samson C, Ferri L, Narod SA and Morgan K and Simard J: Generation of a transcription map at the HSD17B locus centromeric to BRCA1 at 17q21. Genomics 28:530-542, 1995

Tonin P, Moslehi R, Normand T, Green R, Rosen B, Cole D, Boyd N, Cutler C, Margolese R, Carter R, McGillivray B, Ives E, Labrie F, Gilchrist D Morgan K, Simard J and Narod SA: Linkage analysis of 26 Canadian breast and breast-ovarian cancer families. Hum. Genet. 95:545-550, 1995.

Tonin PN, Ghadirian P, Phelan C, Lenoir G, Lynch HT and Narod SA: Case report: A large multisite cancer family is linked to BRCA2. J. Med. Genet. 32:982-984, 1995.

Cornelius RS, Neuhausen SL, Johansson O, Arason A, Kelsell D, Ponder BAJ, Tonin PN, Hamann U, Lindblom A, Lalle P, Longy M, Olah E, Scherneck S, Bignon Y-J, Sobol H, Chang-Claude J, Larsson C, Spurr N, Borg Å, Barkardottir RB, Narod SA, Devilee P and the breast cancer linkage consortium: Allele loss rates at 17q12-q21 in breast and ovarian cancer tumours from 52 germline BRCA1-mutation carriers. Genes, Chromosomes and Cancer 13:203-210, 1995.

Wooster R, Bignell G, Lancaster J, Swift S, Gregory S, Gumbs C, Micklem G, Barfoot R, Hamoudi R, Patel S, Rice C, Biggs P, Hashim Y, Rice A, Connor F, Arason A, Gudmundsson J, Ficenec D, Kelsell D, Ford D, Tonin PN, Bishop DT, Spurr NK, Ponder BAJ, Eeles R, Peto J, Devilee P, Cornelius C, Lynch HT, Narod SA, Lenoir G, Eglisson V, Barkadottir RB, Easton DF, Bentley DR, Futreal PA, Ashworth A and Stratton MR: Identification of the breast cacner susceptibility gene BRCA2. Nature 378:789-792, 1995.


Christensen B and Rosenblatt, D.S.: Effects of folate deficiency on embryonic development, in Megaloblastic Anaemia, J. Caen, C. Hershko, J. Hirsh, A.V. Hoffbrand, D.C. Linch, D. Metcalf, E.D.G. Tuddenham, D.J. Weatherall, eds., U.K. Baillière Tindall, 1995, pp 617-637.

Foulkes WD and Trowsdale J: Isolating tumour suppressor genes relevant to ovarian carcinoma-the role of loss of heterozygosity. In: Ovarian Cancer 3, eds, Sharp, F., Mason WP, Berek J and Blackett AD. pp. 23-38. Chapman and Hall, London, 1995.

Campbell IG, Foulkes WD, Jones TA, Poels LG and Trowsdale J: Cloning and molecular characterisation of monoclonal antibody-defined ovarian tumour antigens. In: Ovarian Cancer 3, eds, Sharp F, Mason WP, Berek J and Blackett AD. pp. 53-59. Chapman and Hall, London, 1995.

Cooper, B.A. and Rosenblatt, D.S.: Disorders of cobalamin and folic acid metabolism, in Principles and Practice of Hematology. R.I. Handin, S.E. Lux, and T.P. Stossel (eds), J.B. Lippincott Co., 1995, pp 1399-1432.

Rosenblatt DS: Inherited disorders of folate transport and metabolism, in The Metabolic Basis of Inherited Disease, C.R. Scriver, A.L. Beaudet, W.S. Sly and D. Valle, eds. New York, McGraw Hill Press, 1995, pp 3111-3128.

Rosenblatt D.S. and Shevell, M.I.: Inherited disorders of cobalamin and folate absorption and metabolism, Inborn Metabolic Diseases. J. Fernandes, J-M. Saudubray and G. van den Berghe, eds., Springer-Verlag Berlin Heidelberg, New York, 1995, pp 247-258.

Rosenblatt D.S.: Inherited Disorders of Folate and Cobalamin. I.H. Rosenberg, I. Graham, P. Ueland, H. Refsum eds. Kluwer Academic Publishers, USA. Submitted.

Rezvani, I. and Rosenblatt, D.S.: An Approach to Inborn Errors of Metabolism, in Pediatrics (15th ed), W.E. Nelson, R.E. Behrman, R.M. Kliegman and A.M. Arvin, eds., W.B. Saunders Company, Philadelphia, 1995, pp 328-329.


Christensen B, Frosst P, Goyette P, Selhub J, Rosenblatt DS, Genest J Jr. and Rozen R: Methylenetetrahydrofolate reductase in premature CAD: correlation of enymatic activity and thermolability with genotype and plasma homocysteine. Amer. Heart Assoc. Nov. 13-16, 1995.

Frosst P, Christensen B, Goyette P, Rosenblatt DS, Genest J Jr. and Rozen R: Methylenetetrahydrofolate reductase (MTHFR) in coronary artery disease patients. International Conference on Homocysteine Metabolism. Irish J. Med. Sci. 164(15):17(67), 1995.

Christensen B, Frosst P, Goyette P, Gilfix BM, Rosenblatt DS, Genest J Jr. and Rozen R: Methylenetetrahydrofolate reductase in cardiovascular disease: correlation of genotype with enzymatic activity and thermolability. Clin. Invest. Med. 18 (4):B86, 1995.

Goyette P, Frosst P, Christensen B, Al-Hendy A, Rosenblatt DS and Rozen R: A common mutation resulting in a thermolabile enzyme can be present on the same allele as mutations for severe deficiency of methylenetetrahydrofolate reductase. Pediatr. Res. 37 (4):148A, 1995.

Christensen B, Frosst P, Goyette P, Gilfix BM, Rosenblatt DS, Genest J Jr and Rozen R: Thermolabile methylenetetrahydrofolate reductase in coronary heart disease: Genotype-Phenotype correlations. SIMD Annual Meeting in Alabama. Abstract book, Oral #47. March 1995

Goyette P, Frosst P, Christensen B, Milos R, Genest J Jr, Rosenblatt DS and Rozen R: Analyse des mutatuions dans le g_ne pour la methyl_net_trahydrofolate r_ductase (MTHFR): 14 mutations rares, et une mutation commune impliqu_e dans les maladies cardiovasculaires. XXXVIIe R_union annuelle du Club Recherche Clinique Qu_bec Annual Meeting. September 1995.

Genest J Jr, Lussier-Cacan S, Christensen B and Rozen R: Plasma homocysteine and coronary artery disease: from epidemiology to mutrition to molecular genetics. "Frontiers in Lipid and Lipoprotein metabolism" Meeting (Oral presentation by Genest J Jr.). October 1995.

Bichet DG, Arthus M-F, Lonergan M, Balfe W, Skorecki K, Nivet H, Robertson G, Oksche A, Rosenthal W, Fujiwara TM, Morgan K and Sasaki S: Autosomal dominant and autosomal recessive nephrogenic diabetes insipidus: novel mutations in the AQP2 gene. Journal of the American Society of Nephrology 6:717, 1995

Bichet DG, Lonergan M, Arthus M-F, Fujiwara TM and Morgan K: Autosomal dominant neurogenic diabetes insipidus in two French-Canadian families bearing the DE77 inframe deletion of the prepro-AVP-NPII gene. Journal of the American Society of Nephrology 6:717, 1995

Bichet DG, Lonergan M, Arthus M-F, Fujiwara TM and Morgan K: Nineteen new AVPR2 mutations segregating with X-linked nephrogenic diabetes insipidus. Journal of the American Society of Nephrology 6:717, 1995

Brais B, Morgan K, Xie Y, Tomé FMS, Fardeau M, Bouchard J-P and Rouleau GA: Strong linkage disequilibrium suggest one founder mutation is responsible for all cases of oculopharyngeal muscular dystrophy (OPMD) in the French Canadian population. American Journal of Human Genetics 57(4; Suppl):A160, 1995

Simard LR, Rochette C, Seminonov A, Morgan K and Vanasse M: Deletion analysis of SMA candidate genes in the French Canadian population. American Journal of Human Genetics 57(4; Suppl):A228, 1995

Wirth B, Hahnen E, DiDonato C, Morgan K, Dadze A, Rudnik-Schöneborn S, Burghes A and Zerres K: Allele association/deletion in autosomal recessive proximal spinal muscular dystrophy: correlation of marker genotype to severity of the disease. (27th Annual meeting of the European Society of Human Genetics, Berlin, 23-27 May 1995; abstract #G-127) Medizinische Genetik 7:188, 1995

Hernaiz-Driever P, Schwabe D, Gohlich-Ratmann G, Fiedler G, Cinatl JJ, Cinatl J, Donnerstag F, Rosenblatt DS, Matiaszuk N, Hoffbrand AV and Jacobi, G.: Problems in high-dose cobalamin treatment of hereditary TC II deficiency. The 1st European Pediatric Neurology Society, March 19-23, 1995, Eilat, Israel. presented.

Bergoffen J, Jurecki E, Pinheiro S, Cooper BA and Rosenblatt DS: Methylmalonic acidemia: Etiologic clue to Imerslund-Grasbec syndrome. Second joint clinical genetics meeting - 26th March of Dimes Clinical Conference & 2nd Annual meeting of American College of Medical Genetics. Los Angeles, March 6-9,1995.

Packman S, Howard R, Frieden I, Crawford D, Rosenblatt DS, Sweetman L, Ohnstad C, Hart K and Berrios M.: Cutaneous manifestations in a neonate with cobalamin C methylmalonic acidemia. Amer. J. Hum. Genet. 57(4):A182, 1995.

Tonin PT, Simard J, LeBlanc J-F, Goldgar D, Morgan K and Narod SA: Mutation analysis of the BRCA1 gene in 26 Canadian breast, ovarian, breast and ovarian cancer families. (Eighty-sixth annual meeting of the American Association for Cancer Research, Toronto, 18-22 March 1995; abstract #1676), American Association for Cancer Research 36 (Proceedings):281, 1995

Durocher F, Pelletier G, Belanger C, Tonin PN, Narod SA and Simard J: Localization of BRCA1 gene expresion and characterization of BRCA1 mutations in Canadian families. Clinical Investigative Medicine. [Supplement] 18:B86, 1995.

Durocher F, Belanger C, Lafrie F, Tonin PN, Morgan K, Narod SA, Shattuck-Eidens D, Neuhaussen CL, Goldgar DE and Simard J: Detection, halplotype and phenotype analyses fo two common BRCA1 mutations. 2nd Joint Clinical Genetics Meeting (1995), page 108, Los Angeles, CA, USA.


Gilfix BM: Molecular Diagnostics at the Royal Victoria Hospital. Amer. Assoc. Clin. Chem. Molecular Pathology Division Newsletter, 7(4):5-6, 1995. (Newsletter)

Tonin PN, Serova O, Lenoir G, Lynch HT, Durocher F, Simard J, Morgan K and Narod SA: BRCA1 mutations in hereditary Ashkenazi Jewish women. Amer. J. Hum. Genet. 57:189, 1995. (Letter)

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