Publications by authors named "Sylvie Langlois"

86Publications

Correspondence on "The prevalence of genetic diagnoses in fetuses with severe congenital heart defects" by Nisselrooij et al.

Genet Med 2020 Sep 27. Epub 2020 Sep 27.

Department of Medical Genetics, British Columbia Women's Hospital, University of British Columbia, Vancouver, BC, Canada.

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http://dx.doi.org/10.1038/s41436-020-00964-3DOI Listing
September 2020

Committee Opinion No. 406: Prenatal testing after IVF with preimplantation genetic testing for aneuploidy.

J Obstet Gynaecol Can 2020 Aug 20. Epub 2020 Aug 20.

Vancouver, BC.

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http://dx.doi.org/10.1016/j.jogc.2019.11.069DOI Listing
August 2020

A Hierarchical Bayes Approach to Modeling Heterogeneity in Discrete Choice Experiments: An Application to Public Preferences for Prenatal Screening.

Patient 2020 04;13(2):211-223

Centre for Health Evaluation and Outcome Sciences, St. Paul's Hospital, 588-1081, Burrard Street, Vancouver, BC, V6Z 1Y6, Canada.

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http://dx.doi.org/10.1007/s40271-019-00402-wDOI Listing
April 2020

Prenatal Autoimmune Disease, Multisystem, Infantile Onset-like Phenotype and Proximal Renal Tubular Dysplasia Associated With Mutation.

Pediatr Dev Pathol 2020 Aug 26;23(4):306-311. Epub 2019 Nov 26.

Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, British Columbia, Canada.

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http://dx.doi.org/10.1177/1093526619890734DOI Listing
August 2020

Canadian genetic healthcare professionals' attitudes towards discussing private pay options with patients.

Mol Genet Genomic Med 2019 04 2;7(4):e00572. Epub 2019 Feb 2.

Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.

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http://dx.doi.org/10.1002/mgg3.572DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6465662PMC
April 2019

Attitudes toward prenatal screening for chromosomal abnormalities: A focus group study.

Women Birth 2019 Aug 27;32(4):364-371. Epub 2018 Sep 27.

Centre for Health Evaluation and Outcome Sciences (CHÉOS), St. Paul's Hospital, Canada; School of Population and Public Health, University of British Columbia, Canada. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S18715192183035
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http://dx.doi.org/10.1016/j.wombi.2018.09.006DOI Listing
August 2019

Non-invasive prenatal aneuploidy testing: Critical diagnostic performance parameters predict sample z-score values.

Clin Biochem 2018 Sep 27;59:69-77. Epub 2018 Jun 27.

Service of Medical Biochemistry, Department of Medical Biology, CHU de Québec - Université Laval, Quebec, Canada; Department of Molecular Biology, Medical Biochemistry, and Pathology, Faculty of Medicine, Université Laval, Quebec, Canada; Human and Molecular Genetics Research Unit, Research Center, CHU de Québec, Quebec, Canada; PEGASUS, Quebec, Canada.

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http://dx.doi.org/10.1016/j.clinbiochem.2018.06.015DOI Listing
September 2018

Correlation of novel PAX6 gene abnormalities in aniridia and clinical presentation.

Can J Ophthalmol 2017 Dec 6;52(6):570-577. Epub 2017 Jul 6.

Department of Ophthalmology and Visual Sciences, University of British Columbia, Vancouver, B.C. Electronic address:

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http://dx.doi.org/10.1016/j.jcjo.2017.04.006DOI Listing
December 2017

Genomics-based non-invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women.

Cochrane Database Syst Rev 2017 11 10;11:CD011767. Epub 2017 Nov 10.

Population Health and Optimal Health Practices Research Axis, CHU de Québec - Université Laval, 45 Rue Leclerc, Québec City, QC, Canada, G1L 3L5.

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http://dx.doi.org/10.1002/14651858.CD011767.pub2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6486016PMC
November 2017

Comparison of first-tier cell-free DNA screening for common aneuploidies with conventional publically funded screening.

Prenat Diagn 2017 12 21;37(12):1238-1244. Epub 2017 Nov 21.

Department of Molecular Biology, Medical Biochemistry and Pathology, Faculty of Medicine, Laval University, Québec City, Quebec, Canada.

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http://dx.doi.org/10.1002/pd.5174DOI Listing
December 2017

No. 261-Prenatal Screening for Fetal Aneuploidy in Singleton Pregnancies.

J Obstet Gynaecol Can 2017 Sep;39(9):e380-e394

Calgary, AB.

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http://dx.doi.org/10.1016/j.jogc.2017.06.013DOI Listing
September 2017

Cell-Free DNA-Based Non-invasive Prenatal Screening for Common Aneuploidies in a Canadian Province: A Cost-Effectiveness Analysis.

J Obstet Gynaecol Can 2018 Jan 4;40(1):48-60. Epub 2017 Aug 4.

Research Centre, Centre hospitalier universitaire de Québec, Québec City, QC; Department of Molecular Biology, Medical Biochemistry, and Pathology, Faculty of Medicine, Université Laval, Québec City, QC.

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http://dx.doi.org/10.1016/j.jogc.2017.05.015DOI Listing
January 2018

Facteurs génétiques à prendre en considération dans le cadre de l'examen gynécologique annuel.

J Obstet Gynaecol Can 2016 Dec 4;38(12S):S22-S33. Epub 2017 Jan 4.

Vancouver (C.-B.).

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http://dx.doi.org/10.1016/j.jogc.2016.09.017DOI Listing
December 2016

Current controversies in prenatal diagnosis 2: for those women screened by NIPT using cell free DNA, maternal serum markers are obsolete.

Prenat Diagn 2016 Dec 15;36(13):1167-1171. Epub 2016 Nov 15.

Department of Medical Genetics, University of British Columbia, Vancouver, Canada.

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http://dx.doi.org/10.1002/pd.4944DOI Listing
December 2016

Non-invasive prenatal testing for fetal chromosome abnormalities: review of clinical and ethical issues.

Appl Clin Genet 2016 4;9:15-26. Epub 2016 Feb 4.

Department of Medical Biology, CHU de Québec, Québec City, QC, Canada; Department of Molecular Biology, Medical Biochemistry and Pathology, Faculty of Medicine, Université Laval, Québec City, QC, Canada.

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http://dx.doi.org/10.2147/TACG.S85361DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4745955PMC
February 2016

Current controversies in prenatal diagnosis 2: should a fetal exome be used in the assessment of a dysmorphic or malformed fetus?

Prenat Diagn 2016 Jan 22;36(1):15-9. Epub 2015 Nov 22.

Department of Medical Genetics, University of British Columbia, Vancouver, Canada.

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http://dx.doi.org/10.1002/pd.4718DOI Listing
January 2016

Current controversies in prenatal diagnosis 4: pre-conception expanded carrier screening should replace all current prenatal screening for specific single gene disorders.

Prenat Diagn 2015 Jan;35(1):23-8

University of British Columbia, Medical Genetics, Vancouver, British Columbia, Canada.

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http://dx.doi.org/10.1002/pd.4532DOI Listing
January 2015

Identification of trisomy 18, trisomy 13, and Down syndrome from maternal plasma.

Appl Clin Genet 2014 7;7:127-31. Epub 2014 Jul 7.

Department of Medical Biology, Centre Hospitalier Universitaire de Québec, Québec City, Quebec, Canada ; Department of Molecular Biology, Medical Biochemistry and Pathology, Faculty of Medicine, Laval University, Québec City, Quebec, Canada.

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http://dx.doi.org/10.2147/TACG.S35602DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4104725PMC
July 2014

Prevalence of selected genomic deletions and duplications in a French-Canadian population-based sample of newborns.

Mol Genet Genomic Med 2013 Jul 21;1(2):87-97. Epub 2013 May 21.

Centre de Recherche du CHU de Québec-Hôpital St-François d'Assise Québec, Québec City, Canada ; Department of Molecular Biology, Medical Biochemistry, and Pathology, Université Laval Québec, Québec City, Canada.

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http://dx.doi.org/10.1002/mgg3.12DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865573PMC
July 2013

Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes.

Eur J Hum Genet 2014 Jun 20;22(6):792-800. Epub 2013 Nov 20.

1] Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada [2] Child & Family Research Institute, Vancouver, British Columbia, Canada.

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http://dx.doi.org/10.1038/ejhg.2013.248DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4023222PMC
June 2014

Prediction of obstetrical risk using maternal serum markers and clinical risk factors.

Prenat Diagn 2014 Feb 11;34(2):172-9. Epub 2013 Dec 11.

Department of Obstetrics and Gynecology, University of British Columbia and the Children's and Women's Hospital and Health Centre of British Columbia, Vancouver, Canada.

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http://dx.doi.org/10.1002/pd.4281DOI Listing
February 2014

Life-history chronicle for a patient with the recently described chromosome 4q21 microdeletion syndrome.

Am J Med Genet A 2012 Oct 17;158A(10):2606-9. Epub 2012 Aug 17.

Department of Medical Genetics, University of British Columbia, Vancouver, Canada.

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http://dx.doi.org/10.1002/ajmg.a.35568DOI Listing
October 2012

Genetic considerations for a woman's annual gynaecological examination.

J Obstet Gynaecol Can 2012 Mar;34(3):276-284

Vancouver BC.

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http://dx.doi.org/10.1016/S1701-2163(16)35189-1DOI Listing
March 2012

Use of array genomic hybridization technology in prenatal diagnosis in Canada.

J Obstet Gynaecol Can 2011 Dec;33(12):1256-9

Montreal QC.

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December 2011

Prenatal screening for fetal aneuploidy.

J Obstet Gynaecol Can 2011 Nov;33(11):1093-1094

Montreal QC.

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http://dx.doi.org/10.1016/S1701-2163(16)35075-7DOI Listing
November 2011

Use of a DNA method, QF-PCR, in the prenatal diagnosis of fetal aneuploidies.

J Obstet Gynaecol Can 2011 Sep;33(9):955-960

Montreal QC.

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http://dx.doi.org/10.1016/S1701-2163(16)35022-8DOI Listing
September 2011

Prenatal screening for fetal aneuploidy in singleton pregnancies.

J Obstet Gynaecol Can 2011 Jul;33(7):736-750

Calgary AB.

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http://dx.doi.org/10.1016/S1701-2163(16)34961-1DOI Listing
July 2011

Precocious puberty in two girls with PEHO syndrome: a clinical feature not previously described.

J Child Neurol 2011 Jul 18;26(7):851-7. Epub 2011 May 18.

Department of Biochemical Diseases, BC Children's and Women's Hospital, Vancouver, BC, Canada.

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http://dx.doi.org/10.1177/0883073810396582DOI Listing
July 2011

Family history screening: use of the three generation pedigree in clinical practice.

J Obstet Gynaecol Can 2010 Jul;32(7):663-72

Department of Obstetrics and Gynaecology, Dalhousie University, Halifax, NS.

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http://dx.doi.org/10.1016/s1701-2163(16)34570-4DOI Listing
July 2010

Methylation profiling in individuals with Russell-Silver syndrome.

Am J Med Genet A 2010 Feb;152A(2):347-55

Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.

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http://dx.doi.org/10.1002/ajmg.a.33204DOI Listing
February 2010

Assessing the role of placental trisomy in preeclampsia and intrauterine growth restriction.

Prenat Diagn 2010 Jan;30(1):1-8

Department of Medical Genetics, University of British Columbia, 950 W. 28th Avenue, Vancouver, BC, Canada.

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http://dx.doi.org/10.1002/pd.2409DOI Listing
January 2010

Preimplantation genetic testing.

J Obstet Gynaecol Can 2009 Aug;31(8):761-75

The Society of Obstetricians and Gynaecologists of Canada (SOGC), Montreal, QC.

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http://dx.doi.org/10.1016/s1701-2163(16)34284-0DOI Listing
August 2009

Diagnosing chromosomal abnormalities from "big" to "small" with molecular cytogenetic technology.

J Obstet Gynaecol Can 2009 May;31(5):414-21

The Center for Fetal Diagnosis and Treatment at the Children's Hospital of Philadelphia; University of Pennsylvania School of Medicine, Philadelphia, PA, USA. Department of Obstetrics and Gynecology, University of Calgary, Calgary, AB.

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http://dx.doi.org/10.1016/s1701-2163(16)34172-xDOI Listing
May 2009

A novel de novo 1.1 Mb duplication of 17q21.33 associated with cognitive impairment and other anomalies.

Am J Med Genet A 2009 Jun;149A(6):1257-62

Department of Medical Genetics, University of British Columbia, Children's and Women's Hospital, Vancouver, British Columbia, Canada.

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http://dx.doi.org/10.1002/ajmg.a.32827DOI Listing
June 2009

The Arg703Trp missense mutation in F13A1 is a de novo event.

Br J Haematol 2009 Jun 27;146(1):118-20. Epub 2009 Apr 27.

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http://dx.doi.org/10.1111/j.1365-2141.2009.07700.xDOI Listing
June 2009

An evaluation of the decision-making process regarding amniocentesis following a screen-positive maternal serum screen result.

Prenat Diagn 2009 May;29(5):514-9

University of British Columbia, Department of Medical Genetics, Vancouver, Canada.

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http://doi.wiley.com/10.1002/pd.2235
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http://dx.doi.org/10.1002/pd.2235DOI Listing
May 2009

Carrier screening for thalassemia and hemoglobinopathies in Canada.

J Obstet Gynaecol Can 2008 Oct;30(10):950-959

Toronto ON.

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http://dx.doi.org/10.1016/S1701-2163(16)32975-9DOI Listing
October 2008

Mid-trimester amniocentesis fetal loss rate.

J Obstet Gynaecol Can 2007 Jul;29(7):586-590

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http://dx.doi.org/10.1016/S1701-2163(16)32501-4DOI Listing
July 2007

De novo mutation of the DHCR7 gene in a fetus with severe Smith-Lemli-Opitz (or RSH) syndrome.

Am J Med Genet A 2007 Aug;143A(15):1799-801

1Hamilton Regional Laboratory Medicine Program, Hamilton, Ontario, Canada.

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http://doi.wiley.com/10.1002/ajmg.a.31802
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http://dx.doi.org/10.1002/ajmg.a.31802DOI Listing
August 2007

Renal-hepatic-pancreatic dysplasia: an autosomal recessive condition that is not linked to the PKHD1 gene on chromosome 6p21.1-p12.

Am J Med Genet A 2007 Aug;143A(15):1806-8

Department of Medical Genetics, University of British Columbia, Canada.

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http://dx.doi.org/10.1002/ajmg.a.31818DOI Listing
August 2007

In vivo footprinting analysis of the Glypican 3 (GPC3) promoter region in neuroblastoma cells.

Biochim Biophys Acta 2007 Mar 9;1769(3):182-93. Epub 2007 Feb 9.

Division of Hemato-Oncology, Charles-Bruneau Cancer Center, Research Center, CHU Sainte- Justine, Montreal, QC, Canada H3T 1C5.

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http://dx.doi.org/10.1016/j.bbaexp.2007.01.014DOI Listing
March 2007

Prenatal screening for fetal aneuploidy.

J Obstet Gynaecol Can 2007 Feb;29(2):146-161

Philadelphia PA.

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http://dx.doi.org/10.1016/S1701-2163(16)32379-9DOI Listing
February 2007

Identification of transcripts modulated by ETV6 expression.

Br J Haematol 2007 Jan 27;136(1):48-62. Epub 2006 Oct 27.

Division of Hematology-oncology, Research Centre, Sainte-Justine Hospital, Montreal, QC, Canada.

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http://dx.doi.org/10.1111/j.1365-2141.2006.06377.xDOI Listing
January 2007

The tale of a belly button: Rieger syndrome.

Clin Pediatr (Phila) 2006 Jun;45(5):453-5

Children's and Women's Health Centre of British Columbia, Division of Neonatology, University of Bristish Columbia, Vancouver, BC, Canada.

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http://dx.doi.org/10.1177/0009922806289623DOI Listing
June 2006

The association between preeclampsia and placental trisomy 16 mosaicism.

Prenat Diagn 2006 Oct;26(10):956-61

Department of Medical Genetics, Vancouver, BC, Canada.

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http://dx.doi.org/10.1002/pd.1534DOI Listing
October 2006

Carrier screening for genetic disorders in individuals of Ashkenazi Jewish descent.

J Obstet Gynaecol Can 2006 Apr;28(4):324-332

Philadelphia PA.

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http://dx.doi.org/10.1016/S1701-2163(16)32131-4DOI Listing
April 2006

Postnatal follow-up of prenatally diagnosed trisomy 16 mosaicism.

Prenat Diagn 2006 Jun;26(6):548-58

Department of Medical Genetics, University of British Columbia, Canada.

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http://dx.doi.org/10.1002/pd.1457DOI Listing
June 2006

Detection and characterization of DNA variants in the promoter regions of hundreds of human disease candidate genes.

Genomics 2006 Jun 24;87(6):704-10. Epub 2006 Feb 24.

Division of Hematology-Oncology, Research Center, Sainte-Justine Hospital, 3175 Chemin de la Côte-Sainte-Catherine, Montreal, Canada QC H3T 1C5.

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http://dx.doi.org/10.1016/j.ygeno.2006.01.001DOI Listing
June 2006

Long-term follow-up of three individuals with Kabuki syndrome.

Am J Med Genet A 2004 Mar;125A(2):191-200

Institute of Genetics, Ha'emek Medical Center, Afula, Israel.

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http://dx.doi.org/10.1002/ajmg.a.20375DOI Listing
March 2004

Familial cryptic translocation (2;17) ascertained through recurrent spontaneous abortions.

Am J Med Genet A 2003 Dec;123A(3):285-9

Department of Pathology and Laboratory Medicine, University of British Columbia, Canada.

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http://dx.doi.org/10.1002/ajmg.a.20228DOI Listing
December 2003

X chromosome inactivation patterns in Russell-Silver syndrome patients and their mothers.

Am J Med Genet A 2003 Dec;123A(3):231-5

Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.

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http://dx.doi.org/10.1002/ajmg.a.20317DOI Listing
December 2003

Assessment of the Effectiveness of Genetic Counseling by Telephone Compared to a Clinic Visit.

J Genet Couns 2003 Apr;12(2):171-84

Medical Genetics Clinic, University of Alberta Hospital, Edmonton, Alberta, Canada,

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http://dx.doi.org/10.1023/A:1022663324006DOI Listing
April 2003

Dispermy--origin of diandric triploidy: brief communication.

Hum Reprod 2002 Dec;17(12):3037-8

Departments of Pathology and Medical Genetics, Children's and Women's Hospital of BC and University of British Columbia, Vancouver, BC V6H 3V4, Canada.

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http://dx.doi.org/10.1093/humrep/17.12.3037DOI Listing
December 2002

Maternal serum screening in triploidy.

Prenat Diagn 2002 Dec;22(12):1113-4

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http://dx.doi.org/10.1002/pd.477DOI Listing
December 2002