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Sylvie Langlois

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D Pugash; Sylvie Langlois; P Power; M Demos
Absent cavum with intact septum pellucidum and corpus callosum may indicate midline brain abnormalities.
Erica Tsang; Laura Arbour; Patrice Eydoux; Jan M Friedman; Sylvie Langlois; Marco Marra; Barbara C McGillivray; Rosemarie Rupps; Farah Zahir
Life-history chronicle for a patient with the recently described chromosome 4q21 microdeletion syndrome.
Tracy Tucker; Alexandre Montpetit; David Chai; Susanna Chan; Sebastien Chenier; Bradley P Coe; Allen Delaney; Patrice Eydoux; Wan L Lam; Sylvie Langlois; Emmanuelle Lemyre; Marco Marra; Hong Qian; Guy Rouleau; David Vincent; Jacques L Michaud; Jan M Friedman
Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation.

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All Publications

2013: D Pugash; Sylvie Langlois; P Power; M Demos
Absent cavum with intact septum pellucidum and corpus callosum may indicate midline brain abnormalities.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2013;41(3):343-4.
2012: Erica Tsang; Laura Arbour; Patrice Eydoux; Jan M Friedman; Sylvie Langlois; Marco Marra; Barbara C McGillivray; Rosemarie Rupps; Farah Zahir
Life-history chronicle for a patient with the recently described chromosome 4q21 microdeletion syndrome.
American journal of medical genetics. Part A 2012;158A(10):2606-9.
2011: Tracy Tucker; Alexandre Montpetit; David Chai; Susanna Chan; Sebastien Chenier; Bradley P Coe; Allen Delaney; Patrice Eydoux; Wan L Lam; Sylvie Langlois; Emmanuelle Lemyre; Marco Marra; Hong Qian; Guy Rouleau; David Vincent; Jacques L Michaud; Jan M Friedman
Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation.
BMC medical genomics 2011;4():25.
2010: A M Lehman; Patrice Eydoux; D Doherty; Ian A Glass; David Chitayat; B Y H Chung; Sylvie Langlois; Siu Li Yong; R Brian Lowry; Friedhelm Hildebrandt; P Trnka
Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy.
American journal of medical genetics. Part A 2010;152A(6):1411-9.
2010: S Lauson; C Alvarez; M S Patel; Sylvie Langlois
Outcome of prenatally diagnosed isolated clubfoot.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2010;35(6):708-14.
2010: Maria S Peñaherrera; Susanne Weindler; Margot I Van Allen; Siu Li Yong; Daniel L Metzger; Barbara C McGillivray; Cornelius F Boerkoel; Sylvie Langlois; Wendy P Robinson
Methylation profiling in individuals with Russell-Silver syndrome.
American journal of medical genetics. Part A 2010;152A(2):347-55.
2010: Wendy P Robinson; Maria S Peñaherrera; Ruby Jiang; Luana Avila; Jennifer Sloan; Deborah E McFadden; Sylvie Langlois; Peter von Dadelszen
Assessing the role of placental trisomy in preeclampsia and intrauterine growth restriction.
Prenatal diagnosis 2010;30(1):1-8.
2009: Sylvie Langlois; Linlea Armstrong; Kim Gall; Gurdip Hulait; Janet Livingston; Tanya Nelson; Patricia Power; Denise Pugash; Dawn Siciliano; Michelle Steinraths; Andre Mattman
Steroid sulfatase deficiency and contiguous gene deletion syndrome amongst pregnant patients with low serum unconjugated estriols.
Prenatal diagnosis 2009;29(10):966-74.
2009: Farah R Zahir; Sylvie Langlois; Kim Gall; Patrice Eydoux; Marco A Marra; Jan M Friedman
A novel de novo 1.1 Mb duplication of 17q21.33 associated with cognitive impairment and other anomalies.
American journal of medical genetics. Part A 2009;149A(6):1257-62.
2009: Christine Kobelka; Andre Mattman; Sylvie Langlois
An evaluation of the decision-making process regarding amniocentesis following a screen-positive maternal serum screen result.
Prenatal diagnosis 2009;29(5):514-9.
2009: Jm Friedman; Shelin Adam; Laura Arbour; Linlea Armstrong; Agnes Baross; Patricia Birch; Cornelius Boerkoel; Susanna Chan; David Chai; Allen D Delaney; Stephane Flibotte; William T Gibson; Sylvie Langlois; Emmanuelle Lemyre; H Irene Li; Patrick MacLeod; Joan Mathers; Jacques L Michaud; Barbara C McGillivray; Millan S Patel; Hong Qian; Guy Rouleau; Margot I Van Allen; Siu Li Yong; Farah R Zahir; Patrice Eydoux; Marco A Marra
Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization.
BMC genomics 2009;10():526.
2007: R Douglas Wilson; Jo-Ann Johnson; Philip Wyatt; Victoria M Allen; Alain Gagnon; Sylvie Langlois; Claire Blight; François Audibert; Valérie Désilets; Jo-Ann Brock; Gideon Koren; Y Ingrid Goh; Ingrid Goh; Patricia Nguyen; Bhushan Kapur
Pre-conceptional vitamin/folic acid supplementation 2007: the use of folic acid in combination with a multivitamin supplement for the prevention of neural tube defects and other congenital anomalies.
Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstétrique et gynécologie du Canada : JOGC 2007;29(12):1003-26.
2007: Victoria M Allen; B Anthony Armson; R Douglas Wilson; Victoria M Allen; Claire Blight; Alain Gagnon; Jo-Ann Johnson; Sylvie Langlois; Anne Summers; Philip Wyatt; Dan Farine; B Anthony Armson; Joan Crane; Marie-France Delisle; Lisa Keenan-Lindsay; Valerie Morin; Carol Ellison Schneider; John Van Aerde
Teratogenicity associated with pre-existing and gestational diabetes.
Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstétrique et gynécologie du Canada : JOGC 2007;29(11):927-44.
2007: R Douglas Wilson; Jo-Ann Johnson; Anne Summers; Philip Wyatt; Victoria M Allen; Alain Gagnon; Sylvie Langlois; Claire Blight; Deborah M Money; Marc Boucher; Andrée Gruslin; Catherine Jane MacKinnon; Caroline Paquet; Julie van Schalkwyk; Howard Ronald Cohen; Marc Steben; Tom Wong; Mark Harris Yudin
Principles of human teratology: drug, chemical, and infectious exposure.
Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstétrique et gynécologie du Canada : JOGC 2007;29(11):911-26.
2007: Farah Zahir; Helen V Firth; Agnes Baross; Allen D Delaney; Patrice Eydoux; William T Gibson; Sylvie Langlois; Howard Martin; Lionel Willatt; Marco A Marra; Jan M Friedman
Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children.
Journal of medical genetics 2007;44(9):556-61.
2007: Kasmintan A Schrader; Tanya N Nelson; Deborah E McFadden; Tapio Pantzar; Sylvie Langlois
Renal-hepatic-pancreatic dysplasia: an autosomal recessive condition that is not linked to the PKHD1 gene on chromosome 6p21.1-p12.
American journal of medical genetics. Part A 2007;143A(15):1806-8.
2007: Agnes Baross; Allen D Delaney; H Irene Li; Tarun Nayar; Stephane Flibotte; Hong Qian; Susanna Y Chan; Jennifer Asano; Adrian Ally; Manqiu Cao; Patricia Birch; Mabel Brown-John; Nicole Fernandes; Anne Go; Giulia Kennedy; Sylvie Langlois; Patrice Eydoux; Jan M Friedman; Marco A Marra
Assessment of algorithms for high throughput detection of genomic copy number variation in oligonucleotide microarray data.
BMC bioinformatics 2007;8():368.
2006: C Huculak; Helene Bruyere; Tanya N Nelson; Frederick K Kozak; Sylvie Langlois
V37I connexin 26 allele in patients with sensorineural hearing loss: evidence of its pathogenicity.
American journal of medical genetics. Part A 2006;140(22):2394-400.
2006: Paul J Yong; Sylvie Langlois; Peter von Dadelszen; Wendy Robinson
The association between preeclampsia and placental trisomy 16 mosaicism.
Prenatal diagnosis 2006;26(10):956-61.
2006: Sylvie Langlois; Paul J Yong; Siu Li Yong; Irene Barrett; Dagmar K Kalousek; Peter Miny; Rita Exeler; Kathy Morris; Wendy P Robinson
Postnatal follow-up of prenatally diagnosed trisomy 16 mosaicism.
Prenatal diagnosis 2006;26(6):548-58.
2006: Andrew J Macnab; Sylvie Langlois
Illustration of genetic syndromes in the nursery.
American journal of medical genetics. Part A 2006;140(2):180-3.
2006: Margot I Van Allen; Erin Boyle; Paul Thiessen; Deborah McFadden; Douglas Cochrane; G Keith Chambers; Sylvie Langlois; Patricia Stathers; Beverly Irwin; Elizabeth Cairns; Patrick M MacLeod; Marie-France Delisle; Soo-Hong Uh
The impact of prenatal diagnosis on neural tube defect (NTD) pregnancy versus birth incidence in British Columbia.
Journal of applied genetics 2006;47(2):151-8.
2005: C Tyson; Chansonette Harvard; R Locker; Jan M Friedman; Sylvie Langlois; M E S Lewis; Margot I Van Allen; M Somerville; Laura Arbour; L Clarke; B McGilivray; Siu Li Yong; J Siegel-Bartel; Evica Rajcan-Separovic
Submicroscopic deletions and duplications in individuals with intellectual disability detected by array-CGH.
American journal of medical genetics. Part A 2005;139(3):173-85.
2005: R Douglas Wilson; Greg Davies; Alain Gagnon; Valerie Desilets; Gregory J Reid; Anne Summers; Philip Wyatt; Victoria M Allen; Sylvie Langlois
Amended Canadian guideline for prenatal diagnosis (2005) change to 2005-techniques for prenatal diagnosis.
Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstétrique et gynécologie du Canada : JOGC 2005;27(11):1048-62.
2005: R Douglas Wilson; Valerie Desilets; Alain Gagnon; Anne Summers; Philip Wyatt; Victoria M Allen; Sylvie Langlois
Present role of stem cells for fetal genetic therapy.
Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstétrique et gynécologie du Canada : JOGC 2005;27(11):1038-47.
2004: Hélène Bruyère; R Douglas Wilson; Sylvie Langlois
Risk of mosaicism and uniparental disomy associated with the prenatal diagnosis of a non-homologous Robertsonian translocation carrier.
Fetal diagnosis and therapy 2004;19(5):399-403.
2003: Helene Bruyere; Evica Rajcan-Separovic; J Doyle; Tapio Pantzar; Sylvie Langlois
Familial cryptic translocation (2;17) ascertained through recurrent spontaneous abortions.
American journal of medical genetics. Part A 2003;123A(3):285-9.
2003: Christy L Beever; Maria S Peñaherrera; Sylvie Langlois; Wendy R Robinson
X chromosome inactivation patterns in Russell-Silver syndrome patients and their mothers.
American journal of medical genetics. Part A 2003;123A(3):231-5.
2002: Deborah E McFadden; Ruby Jiang; Sylvie Langlois; Wendy P Robinson
Dispermy--origin of diandric triploidy: brief communication.
Human reproduction (Oxford, England) 2002;17(12):3037-8.
2002: Deborah E McFadden; Gurdip Hulait; Gillian Lockitch; Sylvie Langlois
Maternal serum screening in triploidy.
Prenatal diagnosis 2002;22(12):1113-4.
2002: Wendy P Robinson; Deborah E McFadden; Irene Barrett; Brian Kuchinka; Maria S Peñaherrera; Hélène Bruyère; Robert G Best; Denise Araújo Lapa Pedreira; Sylvie Langlois; Dagmar K Kalousek
Origin of amnion and implications for evaluation of the fetal genotype in cases of mosaicism.
Prenatal diagnosis 2002;22(12):1076-85.
2002: Andre Mattman; David Huntsman; Gillian Lockitch; Sylvie Langlois; Noel Buskard; Diana Ralston; Yaron Butterfield; Pedro Rodrigues; Steven J M Jones; Graça Porto; Marco Marra; Maria de Sousa; Greg Vatcher
Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation.
Blood 2002;100(3):1075-7.
2001: Brian Kuchinka; Irene Barrett; Graciela Moya; Jose Maria Sánchez; Sylvie Langlois; Siu Li Yong; Dagmar K Kalousek; Wendy P Robinson
Two cases of confined placental mosaicism for chromosome 4, including one with maternal uniparental disomy.
Prenatal diagnosis 2001;21(1):36-9.
2000: Maria S Peñaherrera; Irene Barrett; Carolyn J Brown; Sylvie Langlois; Siu Li Yong; S Lewis; Hélène Bruyère; P N Howard-Peebles; Dagmar K Kalousek; Wendy P Robinson
An association between skewed X-chromosome inactivation and abnormal outcome in mosaic trisomy 16 confined predominantly to the placenta.
Clinical genetics 2000;58(6):436-46.
2000: Deborah E McFadden; Sylvie Langlois
Parental and meiotic origin of triploidy in the embryonic and fetal periods.
Clinical genetics 2000;58(3):192-200.
2000: Valia Lestou; Valerie Desilets; Brenda Lomax; Irene Barrett; R Douglas Wilson; Sylvie Langlois; Dagmar K Kalousek
Comparative genomic hybridization: a new approach to screening for intrauterine complete or mosaic aneuploidy.
American journal of medical genetics 2000;92(4):281-4.
1999: Lynn E Bernard; Maria S Peñaherrera; Margot I Van Allen; M S Wang; Siu Li Yong; F Gareis; Sylvie Langlois; Wendy P Robinson
Clinical and molecular findings in two patients with russell-silver syndrome and UPD7: comparison with non-UPD7 cases.
American journal of medical genetics 1999;87(3):230-6.
1999: Hélène Bruyère; M E Lewis; S Wood; Patrick M MacLeod; Sylvie Langlois
Increasing evidence for a new X-linked mental retardation/epilepsy gene localized to Xp21.3-Xp22.1.
American journal of medical genetics 1999;86(4):401.
1999: Helene Bruyere; S Lewis; S Wood; P J MacLeod; Sylvie Langlois
Confirmation of linkage in X-linked infantile spasms (West syndrome) and refinement of the disease locus to Xp21.3-Xp22.1.
Clinical genetics 1999;55(3):173-81.
1999: Lynn E Bernard; Barbara McGillivray; Margot I Van Allen; J M Friedman; Sylvie Langlois
Duty to re-contact: a study of families at risk for Fragile X.
Journal of genetic counseling 1999;8(1):3-15.
1998: Wendy P Robinson; Brian Kuchinka; F Bernasconi; Michael B Petersen; A Schulze; karen brondum-nielsen; SL Christian; David Ledbetter; Albert Schinzel; B Horsthemke; S Schuffenhauer; R C Michaelis; Sylvie Langlois; T J Hassold
Maternal meiosis I non-disjunction of chromosome 15: dependence of the maternal age effect on level of recombination.
Human molecular genetics 1998;7(6):1011-9.
1998: R Moslehi; Sylvie Langlois; I Yam; Jan M Friedman
Linkage of malignant hyperthermia and hyperkalemic periodic paralysis to the adult skeletal muscle sodium channel (SCN4A) gene in a large pedigree.
American journal of medical genetics 1998;76(1):21-7.
1997: A W Lau; Carolyn J Brown; Maria S Peñaherrera; Sylvie Langlois; Dagmar K Kalousek; Wendy P Robinson
Skewed X-chromosome inactivation is common in fetuses or newborns associated with confined placental mosaicism.
American journal of human genetics 1997;61(6):1353-61.
1997: Deborah E McFadden; J T Pantzar; Margot I Van Allen; Sylvie Langlois
Renal tubular dysgenesis with calvarial hypoplasia: report of two additional cases and review.
Journal of medical genetics 1997;34(10):846-8.
1997: Wendy F Hansen; Lynn E Bernard; Sylvie Langlois; Kathleen W Rao; Nancy C Chescheir; Arthur S Aylsworth; D I Smith; Wendy P Robinson; Irene Barrett; Dagmar K Kalousek
Maternal uniparental disomy of chromosome 2 and confined placental mosaicism for trisomy 2 in a fetus with intrauterine growth restriction, hypospadias, and oligohydramnios.
Prenatal diagnosis 1997;17(5):443-50.
1997: M T Little; Sylvie Langlois; R D Wilson; Peter M Lansdorp
Frequency of fetal cells in sorted subpopulations of nucleated erythroid and CD34+ hematopoietic progenitor cells from maternal peripheral blood.
Blood 1997;89(7):2347-58.
1997: Wendy P Robinson; Irene Barrett; L Bernard; A Telenius; F Bernasconi; R Douglas Wilson; Robert G Best; P N Howard-Peebles; Sylvie Langlois; Dagmar K Kalousek
Meiotic origin of trisomy in confined placental mosaicism is correlated with presence of fetal uniparental disomy, high levels of trisomy in trophoblast, and increased risk of fetal intrauterine growth restriction.
American journal of human genetics 1997;60(4):917-27.
1996: Dagmar K Kalousek; Sylvie Langlois; Wendy P Robinson; A Telenius; L Bernard; Irene Barrett; Patricia N Howard-Peebles; R Douglas Wilson
Trisomy 7 CVS mosaicism: pregnancy outcome, placental and DNA analysis in 14 cases.
American journal of medical genetics 1996;65(4):348-52.
1996: J Mitchell; Albert Schinzel; Sylvie Langlois; Gabriele Gillessen-Kaesbach; S Schuffenhauer; R Michaelis; Dvorah Abeliovich; Israela Lerer; Susan L Christian; M Guitart; Deborah E McFadden; Wendy P Robinson
Comparison of phenotype in uniparental disomy and deletion Prader-Willi syndrome: sex specific differences.
American journal of medical genetics 1996;65(2):133-6.
1996: Lisa Shaffer; Sylvie Langlois; Christopher McCaskill; D M Main; Wendy P Robinson; Irene Barrett; Dagmar K Kalousek
Analysis of nine pregnancies with confined placental mosaicism for trisomy 2.
Prenatal diagnosis 1996;16(10):899-905.
1996: Wendy P Robinson; Sylvie Langlois; S Schuffenhauer; Bernhard Horsthemke; R C Michaelis; Susan L Christian; David Ledbetter; Albert Schinzel
Cytogenetic and age-dependent risk factors associated with uniparental disomy 15.
Prenatal diagnosis 1996;16(9):837-44.
1996: Pascale Benlian; Luc Foubert; E Gagné; L Bernard; Jean Luc de Gennes; Sylvie Langlois; W Robinson; Michael R Hayden
Complete paternal isodisomy for chromosome 8 unmasked by lipoprotein lipase deficiency.
American journal of human genetics 1996;59(2):431-6.
1996: L E Bernard; D Chitayat; R Weksberg; Margot I Van Allen; Sylvie Langlois
Linkage analysis of two Canadian families segregating for X linked spondyloepiphyseal dysplasia.
Journal of medical genetics 1996;33(5):432-4.
1995: Sylvie Langlois; S L Yong; R Douglas Wilson; L C Kwong; Dagmar K Kalousek
Prenatal and postnatal growth failure associated with maternal heterodisomy for chromosome 7.
Journal of medical genetics 1995;32(11):871-5.
1995: Sylvie Langlois; Elena Lopez-Rangel; Judith G Hall
New mechanisms for genetic disease and nontraditional modes of inheritance.
Advances in pediatrics 1995;42():91-111.
1994: Sylvie Langlois
Genomic imprinting: a new mechanism for disease.
Pediatric pathology / affiliated with the International Paediatric Pathology Association 1994;14(1):161-5.
1993: Deborah E McFadden; L C Kwong; I Y Yam; Sylvie Langlois
Parental origin of triploidy in human fetuses: evidence for genomic imprinting.
Human genetics 1993;92(5):465-9.
1993: Margot I Van Allen; Dagmar K Kalousek; G F Chernoff; Diana M Juriloff; M Harris; B C McGillivray; S L Yong; Sylvie Langlois; P M MacLeod; D Chitayat
Evidence for multi-site closure of the neural tube in humans.
American journal of medical genetics 1993;47(5):723-43.
1993: Wendy P Robinson; F Bernasconi; A Mutirangura; David Ledbetter; Sylvie Langlois; S Malcolm; Michael Morris; Albert Schinzel
Nondisjunction of chromosome 15: origin and recombination.
American journal of human genetics 1993;53(3):740-51.
1993: Dagmar K Kalousek; Sylvie Langlois; Irene Barrett; I Yam; D R Wilson; Patricia N Howard-Peebles; MP Johnson; E Giorgiutti
Uniparental disomy for chromosome 16 in humans.
American journal of human genetics 1993;52(1):8-16.
1993: Wendy P Robinson; I Lorda-Sanchez; S Malcolm; Sylvie Langlois; S Schuffenhauer; H Knoblauch; Bernhard Horsthemke; Albert Schinzel
Increased parental ages and uniparental disomy 15: a paternal age effect?
European journal of human genetics : EJHG 1993;1(4):280-6.
1990: B C McGillivray; Anne S Bassett; Sylvie Langlois; T Pantzar; S Wood
Familial 5q11.2----q13.3 segmental duplication cosegregating with multiple anomalies, including schizophrenia.
American journal of medical genetics 1990;35(1):10-3.
1989: Sylvie Langlois; S Deeb; J D Brunzell; John J P Kastelein; Michael R Hayden
A major insertion accounts for a significant proportion of mutations underlying human lipoprotein lipase deficiency.
Proceedings of the National Academy of Sciences of the United States of America 1989;86(3):948-52.
1988: D Chitayat; B C McGillivray; S Wood; Dagmar K Kalousek; Sylvie Langlois; Derek A Applegarth
Interstitial 7q deletion [46,XX,del(7)(pter----q21.1::q22----qter)] and the location of genes for beta-glucuronidase and cystic fibrosis.
American journal of medical genetics 1988;31(3):655-61.
1988: Sylvie Langlois; John J P Kastelein; Michael R Hayden
Characterization of six partial deletions in the low-density-lipoprotein (LDL) receptor gene causing familial hypercholesterolemia (FH).
American journal of human genetics 1988;43(1):60-8.
1988: Michael R Hayden; J Hewitt; J J Wasmuth; John J P Kastelein; Sylvie Langlois; M Conneally; Jonathan L Haines; B Smith; C Hilbert; D Allard
A polymorphic DNA marker that represents a conserved expressed sequence in the region of the Huntington disease gene.
American journal of human genetics 1988;42(1):125-31.