Isabelle De Bie, MD, PhD, FRCPC, FCCMG Medical Geneticist and Clinical Molecular Geneticist
I enjoy flying kites.
Director, Prenatal Diagnosis Program, Department of Medical Genetics, McGill University
Associate Director of the Molecular Genetics Laboratory, McGill University
Canadian College of Medical Geneticists Member, Training Committee Member, Clinical Practice Committee
PhD, Experimental Medicine, McGill University
Université de Laval
Specialty training, Medical Genetics
Molecular Genetics, Canadian College of Medical Geneticist (CCMG)
De Bie, R. Agatep, P. Scott, A. F. Ruchon. Report on the p.Ser489X CFTR mutation, a variant with severe associated phenotype and high prevalence in a Quebec French-Canadian Cystic fibrosis patient population. Genet. Med. In press
CCMG and SOGC Joint Clinical Practice Guideline: Use of Array Genomic Hybridization Technology in Prenatal Diagnosis in Canada. J. Obstet. Gynaecol. Can. (2011) 33:1256–1259.
CCMG and SOGC Joint Clinical Practice Guideline: Use of a DNA method, QF-PCR, in the prenatal diagnosis of fetal aneuploidies. J. Obstet. Gynaecol. Can. (2011) 33:955–960.
CCMG and SOGC Joint Clinical Practice Guideline: Prenatal Screening for Fetal Aneuploidy in Singleton Pregnancies. J. Obstet. Gynaecol. Can. (2011) 33:736–750.
I. De Bie, E. Lemyre, M. Lambert. Favorable long-term outcome following severe neonatal hyperammonaemic coma in a patient with ASS deficiency. JIMD Reports. (2011) 1:83-88. ML.
Bellido, R. Radpour, O. Lapaire, I. De Bie, I. Hösli, J. Bitzer, A. Hmadcha, XY. Zhong, W. Holzgreve. MALDI-TOF Mass Array Analysis of RASSF1A and Maspin Methylation Patterns in Placenta and Plasma. Biol. Reprod. (2010) 82:745-750.
I. De Bie, S. Nizard, G. Mitchell. Fetal dilated cardiomyopathy: an unsuspected presentation of methylmalonic aciduria and hyperhomocystinuria, cblC type. Prenat. Diagn. (2009) 29:266-270.