Isabelle De Bie

Isabelle De Bie

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Isabelle De Bie

Isabelle De Bie

Publications by authors named "Isabelle De Bie"

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18Publications

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No. 380-Investigation and Management of Prenatally Identified Microcephaly.

J Obstet Gynaecol Can 2019 Jun;41(6):855-861

Montréal, QC.

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http://dx.doi.org/10.1016/j.jogc.2018.10.014DOI Listing
June 2019

Renal tubular dysgenesis and microcolon, a novel association. Report of three cases.

Eur J Med Genet 2019 Apr 31;62(4):254-258. Epub 2018 Jul 31.

Division of Nephrology, Department of Pediatrics, McGill University Health Centre, Montreal, QC, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.07.024DOI Listing
April 2019

N° 363 - Évaluation et prise en charge de l'anasarque fœtoplacentaire non immune.

J Obstet Gynaecol Can 2018 08 3;40(8):1091-1107. Epub 2018 Jul 3.

Montréal (Qc).

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http://dx.doi.org/10.1016/j.jogc.2018.06.005DOI Listing
August 2018

No. 363-Investigation and Management of Non-immune Fetal Hydrops.

J Obstet Gynaecol Can 2018 08;40(8):1077-1090

Montréal, QC.

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http://dx.doi.org/10.1016/j.jogc.2017.12.011DOI Listing
August 2018

Dyssegmental dysplasia, Silverman-Handmaker type: A challenging antenatal diagnosis in a dizygotic twin pregnancy.

Mol Genet Genomic Med 2018 05 11;6(3):452-456. Epub 2018 Mar 11.

Department of Medical Genetics, McGill University Health Centre, Montréal, QC, Canada.

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http://dx.doi.org/10.1002/mgg3.379DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6014473PMC
May 2018

encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.

J Med Genet 2017 07 4;54(7):460-470. Epub 2017 Apr 4.

Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.

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http://dx.doi.org/10.1136/jmedgenet-2016-104509DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5656050PMC
July 2017

Favorable long-term outcome following severe neonatal hyperammonemic coma in a patient with argininosuccinate synthetase deficiency.

JIMD Rep 2011 22;1:83-8. Epub 2011 Jun 22.

Medical Genetics Division, Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine, Université de Montréal, 3175 Côte Sainte-Catherine, Montréal, QC, Canada, H3T-1C5,

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http://dx.doi.org/10.1007/8904_2011_21DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3509823PMC
February 2013

Report on the p.Ser489X (p.Ser489*) CFTR mutation, a variant with severe associated phenotype and high prevalence in a Quebec French-Canadian cystic fibrosis patient population.

Genet Med 2012 Oct 24;14(10):883-6. Epub 2012 May 24.

Molecular Diagnostic Laboratory, Department of Medical Genetics, Montreal Children's Hospital, McGill University Health Centre, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1038/gim.2012.57DOI Listing
October 2012

MALDI-TOF mass array analysis of RASSF1A and SERPINB5 methylation patterns in human placenta and plasma.

Biol Reprod 2010 Apr 14;82(4):745-50. Epub 2010 Jan 14.

Department of Cell Therapy and Regenerative Medicine, Andalusian Center for Molecular Biology and Regenerative Medicine (CABIMER), Seville, Spain.

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http://digital.csic.es/bitstream/10261/39056/1/ARTICULOS2328
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http://www.biolreprod.org/cgi/doi/10.1095/biolreprod.109.082
Publisher Site
http://dx.doi.org/10.1095/biolreprod.109.082271DOI Listing
April 2010

Fetal dilated cardiomyopathy: an unsuspected presentation of methylmalonic aciduria and hyperhomocystinuria, cblC type.

Prenat Diagn 2009 Mar;29(3):266-70

Medical Genetics Division, Department of Pediatrics, Université de Montréal, Centre Hospitalier Universitaire Sainte-Justine, 3175 Côte Sainte-Catherine, Montréal, Québec H3T-1C5 Canada.

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http://dx.doi.org/10.1002/pd.2218DOI Listing
March 2009