selected scholarly activity
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conferences
- Genetic testing experience of a private fertility clinic. International Congress Series. 177-180. 2004
- Screening of aneuploldy using maternal blood spots in the first and second trimester. American Journal of Human Genetics. 558-558. 2002
- Molecular genetic study of three patients with the 22q11 deletion syndrome.. American Journal of Human Genetics. 611-611. 2001
- Prenatal screening for aneuploidy using maternal blood spots on filter paper in the first and second trimester.. American Journal of Human Genetics. 661-661. 2001
- Cloning of two genes from the 22q11 deletion syndrome proximal critical region.. American Journal of Human Genetics. A185-A185. 1999
- Characterization of clonal chromosome rearrangements using FISH in a cell line derived from ovarian epithelial cancer (EOC).. American Journal of Human Genetics. A366-A366. 1997
- Establishment of a transcription map in the 22q11.2 microdeletion syndrome critical region.. American Journal of Human Genetics. A233-A233. 1997
- Telomeric FISH analysis: the use of telomeric probes for the characterisation of visible chromosome rearrangements using fluorescence in situ hybridization.. American Journal of Human Genetics. A119-A119. 1997
- CLONING OF A BALANCED TRANSLOCATION BREAKPOINT MAPPING IN THE DIGEORGE-SYNDROME CRITICAL REGION. Cytogenetic and Genome Research. 291-291. 1994
- IDENTIFICATION OF NEW HUMAN ZINC FINGER GENES FROM CHROMOSOMAL LIBRARIES AND DIRECT SELECTION OF CORRESPONDING AMPLIFIED CDNAS BY HYBRIDIZATION TO GENOMIC CLONES. Molecular Biology of the Cell. A83-A83. 1992
- CHARACTERIZATION OF THE MATERNAL GENES INVOLVED IN THE SELECTION AGAINST TRISOMY 16 MOUSE FETUSES. American Journal of Human Genetics. 260-260. 1991
- INVOLVEMENT OF A CALPAIN-LIKE PROTEASE IN THE PROCESSING OF MURINE IL-1-ALPHA. The FASEB Journal. A725-A725. 1991
- EFFECTS OF INVITRO MYCOPLASMA-INFECTION ON INTERLEUKIN-1-ALPHA AND INTERLEUKIN-1-BETA MESSENGER-RNA EXPRESSION. Journal of Leukocyte Biology. 587-587. 1987
- EPIDERMAL THYMOCYTE-ACTIVATING FACTOR MAY NOT BE RELATED TO INTERLEUKIN-1-ALPHA AND INTERLEUKIN-1-BETA. Journal of Investigative Dermatology. 135-135. 1986
- CHANGES IN RAT SERUM MCF (IL-1) FOLLOWING ACUTE-INFLAMMATION. Experientia. 780-780. 1985
- DIFFERENTIAL EXPRESSION OF MONONUCLEAR CELL FACTOR (MCF) MESSENGER-RNA THAT STIMULATES PGE2 AND COLLAGENASE PRODUCTION. Experientia. 798-798. 1985
- RAT ALPHA-2U-GLOBULIN - AN ACUTE PHASE PROTEIN. Experientia. 645-645. 1983
- SIMIAN-VIRUS 40-INDUCED REPROGRAMMATION OF CELLULAR GENE-EXPRESSION IN MOUSE KIDNEY TISSUE-CULTURE CELLS. Experientia. 666-666. 1983
- 3′‐POLY (A) SEQUENCES AND THE ACUTE PHASE RESPONSE. Annals of the New York Academy of Sciences. 442-442. 1982
- EFFECT OF INJURY ON THE LEVELS AND TRANSLATION OF POLY (A)+ RNA. Annals of the New York Academy of Sciences. 443-443. 1982
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journal articles
- Archivée: Recours à la technologie d’hybridation génomique matricielle dans le cadre du diagnostic prénatal au Canada. Journal of Obstetrics and Gynaecology Canada. 33:1260-1261. 2011
- RETIRED: Use of Array Genomic Hybridization Technology in Prenatal Diagnosis in Canada. Journal of Obstetrics and Gynaecology Canada. 33:1256-1259. 2011
- Recours à une méthode ADN (QF-PCR) dans le diagnostic prénatal des aneuploïdies fœtales. Journal of Obstetrics and Gynaecology Canada. 33:961-963. 2011
- Use of a DNA Method, QF-PCR, in the Prenatal Diagnosis of Fetal Aneuploidies. Journal of Obstetrics and Gynaecology Canada. 33:955-960. 2011
- Dépistage prénatal de l’aneuploïdie fœtale en ce qui concerne les grossesses monofœtales. Journal of Obstetrics and Gynaecology Canada. 33:751-753. 2011
- Prenatal Screening for Fetal Aneuploidy in Singleton Pregnancies. Journal of Obstetrics and Gynaecology Canada. 33:736-750. 2011
- Unusual dicentric chromosome 22 associated with a 22q13 deletion. American Journal of Medical Genetics, Part A. 140A:2819-2823. 2006
- A new association of congenital hydrocephalus, albinism, megalocornea, and retinal coloboma in a syndromic child: A clinical and genetic study. Ophthalmic Genetics. 21:211-216. 2000
- Prenatal diagnosis by FISH of a 22q11 deletion in two families.. Journal of Medical Genetics. 35:165-168. 1998
- Isolation of a novel gene from the DiGeorge syndrome critical region with homology to Drosophila gdl and to human LAMC1 genes. Human Molecular Genetics. 5:633-638. 1996
- Familial non-syndromic conotruncal defects are not associated with a 22q11 microdeletion. Human Genetics. 97:138-144. 1996
- Structural Organization of the WD repeat protein-encoding gene HIRA in the DiGeorge syndrome critical region of human chromosome 22.. Genome Research. 6:43-50. 1996
- Excess of deletions of maternal origin in the DiGeorge/Velo-cardio-facial syndromes. A study of 22 new patients and review of the literature. Human Genetics. 96:9-13. 1995
- Physical Mapping of 30 CA Repeats on Human Chromosome 22. Genomics. 27:345-347. 1995
- Cloning of a balanced translocation breakpoint in the DiGeorge syndrome critical region and isolation of a novel potential adhesion receptor gene in its vicinity. Human Molecular Genetics. 4:551-558. 1995
- DiGeorge syndrome and related syndromes associated with 22q11.2 deletions. A review.. European Journal of Medical Genetics. 38:59-76. 1995
- Interstitial 22q11 microdeletion excluding the ADU breakpoint in a patient with DiGeorge syndrome. Human Molecular Genetics. 4:2417-2419. 1995
- [Search for 22q11 deletion and linkage study in familial cases of non-syndromic conotruncal defects].. Archives of Cardiovascular Diseases. 87:657-661. 1994
- Molecular cytogenetic analysis of a series of 23 DiGeorge syndrome patients by fluorescence in situ hybridization.. European Journal of Medical Genetics. 37:60-65. 1994
- Physical mapping by FISH of the DiGeorge critical region (DGCR): involvement of the region in familial cases.. American Journal of Human Genetics. 53:1239-1249. 1993
- Isolation and Mapping of 45 NotI Linking Clones to Chromosome 22. Genomics. 17:776-779. 1993
- Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2. Nature. 363:515-521. 1993
- Genetic analysis of the maternal factors controlling the survival of trisomy 16 mouse fetuses. Birth Defects Research Part A: Clinical and Molecular Teratology. 47:311-319. 1993
- Identification and analysis of all components of a gel retardation assay by combination with immunoblotting.. Proceedings of the National Academy of Sciences of the United States of America. 90:2574-2578. 1993
- Isolation of a zinc finger gene consistently deleted in DiGeorge syndrome. Human Molecular Genetics. 2:1583-1587. 1993
- Mapping of the human adenylosuccinate lyase (ADSL) gene to chromosome 22q13.1→q13.2. Cytogenetic and Genome Research. 64:201-203. 1993
- Dinucleotide repeat polymorphism at the D21S65 locus. Human Molecular Genetics. 1:350-350. 1992
- Oncogenes: a review of their clinical application. Critical Reviews in Oncology/Hematology. 11:209-239. 1991
- Involvement of a calpain-like protease in the processing of the murine interleukin 1 alpha precursor. Journal of Biological Chemistry. 266:12162-12167. 1991
- Order of probe and nuclear protein extract addition can determine specificity of protein — DNA complexes in tested mobility shift assays. Nucleic Acids Research (NAR). 19:677-678. 1991
- IL1/ETAF activity and undetectable ILI β mRNA and minimal IL1 β mRNA levels in normal adult heat-separated epidermis. Biochemical and Biophysical Research Communications. 156:463-469. 1988
- Differential effects of in vitro mycoplasma infection on interleukin-1 alpha and beta mRNA expression in U937 and A431 cells.. Journal of Biological Chemistry. 263:13039-13045. 1988
- Limited effects of recombinant human and murine interleukin 1 and tumour necrosis factor on production of acute phase proteins by cultured rat hepatocytes.. IUBMB Life. 14:553-560. 1987
- Expression of human IL 1 alpha and beta messenger RNAs and IL 1 activity in human peripheral blood mononuclear cells.. The Journal of molecular and cellular immunology : JMCI. 3:255-265. 1987
- Purification and characterization of human interleukin‐1β expressed in recombinant Escherichia coli. The FEBS Journal. 160:491-497. 1986
- Human recombinant interleukin 1 stimulates collagenase and prostaglandin E2 production by human synovial cells.. Journal of Clinical Investigation. 77:645-648. 1986
- Changes in hepatic RNA, poly(A)+RNA, and poly(A)-RNA during the acute phase response to inflammation.. IUBMB Life. 12:155-165. 1986
- DIFFERENTIAL EXPRESSION OF MESSENGER-RNAS FOR MONONUCLEAR CELL FACTOR FROM STIMULATED HUMAN MONOCYTE-MACROPHAGE CULTURES. British Journal of Rheumatology. 24:77-81. 1985
- Cytokines and other mediators in rheumatoid arthritis. Seminars in Immunopathology. 7:387-413. 1984