Sylvie Langlois

Summary

Affiliation: University of British Columbia
Country: Canada

Publications

  1. doi request reprint Steroid sulfatase deficiency and contiguous gene deletion syndrome amongst pregnant patients with low serum unconjugated estriols
    Sylvie Langlois
    Medical Genetics, University of British Columbia, Vancouver, Canada
    Prenat Diagn 29:966-74. 2009
  2. ncbi request reprint Postnatal follow-up of prenatally diagnosed trisomy 16 mosaicism
    Sylvie Langlois
    Department of Medical Genetics, University of British Columbia, Canada
    Prenat Diagn 26:548-58. 2006
  3. doi request reprint Assessing the role of placental trisomy in preeclampsia and intrauterine growth restriction
    Wendy P Robinson
    Department of Medical Genetics, University of British Columbia, 950 W 28th Avenue, Vancouver, BC, Canada
    Prenat Diagn 30:1-8. 2010
  4. doi request reprint Life-history chronicle for a patient with the recently described chromosome 4q21 microdeletion syndrome
    Erica Tsang
    Department of Medical Genetics, University of British Columbia, Vancouver, Canada
    Am J Med Genet A 158:2606-9. 2012
  5. pmc Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization
    Jm Friedman
    Department of Medical Genetics, University of British Columbia, Vancouver, Canada
    BMC Genomics 10:526. 2009
  6. doi request reprint A novel de novo 1.1 Mb duplication of 17q21.33 associated with cognitive impairment and other anomalies
    Farah R Zahir
    Department of Medical Genetics, University of British Columbia, Children s and Women s Hospital, Vancouver, British Columbia, Canada
    Am J Med Genet A 149:1257-62. 2009
  7. pmc Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation
    Tracy Tucker
    Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada
    BMC Med Genomics 4:25. 2011
  8. ncbi request reprint X chromosome inactivation patterns in Russell-Silver syndrome patients and their mothers
    Christy L Beever
    Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada
    Am J Med Genet A 123:231-5. 2003
  9. ncbi request reprint Origin of amnion and implications for evaluation of the fetal genotype in cases of mosaicism
    Wendy P Robinson
    Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada
    Prenat Diagn 22:1076-85. 2002
  10. pmc Assessment of algorithms for high throughput detection of genomic copy number variation in oligonucleotide microarray data
    Agnes Baross
    Genome Sciences Centre, BC Cancer Agency, British Columbia Cancer Agency, Suite 100, 570 West 7th Avenue, Vancouver, BC, V5Z 4S6, Canada
    BMC Bioinformatics 8:368. 2007

Collaborators

Detail Information

Publications32

  1. doi request reprint Steroid sulfatase deficiency and contiguous gene deletion syndrome amongst pregnant patients with low serum unconjugated estriols
    Sylvie Langlois
    Medical Genetics, University of British Columbia, Vancouver, Canada
    Prenat Diagn 29:966-74. 2009
    ....
  2. ncbi request reprint Postnatal follow-up of prenatally diagnosed trisomy 16 mosaicism
    Sylvie Langlois
    Department of Medical Genetics, University of British Columbia, Canada
    Prenat Diagn 26:548-58. 2006
    ..To determine the long-term outcome of pregnancies prenatally diagnosed with trisomy 16 and identify variables associated with the outcome...
  3. doi request reprint Assessing the role of placental trisomy in preeclampsia and intrauterine growth restriction
    Wendy P Robinson
    Department of Medical Genetics, University of British Columbia, 950 W 28th Avenue, Vancouver, BC, Canada
    Prenat Diagn 30:1-8. 2010
    ..However, it is unclear how often this might underlie pregnancy complications. Our objective was to evaluate the frequency and distribution of trisomic cells in placentae ascertained for IUGR and/or preeclampsia...
  4. doi request reprint Life-history chronicle for a patient with the recently described chromosome 4q21 microdeletion syndrome
    Erica Tsang
    Department of Medical Genetics, University of British Columbia, Vancouver, Canada
    Am J Med Genet A 158:2606-9. 2012
    ..Here we provide a detailed clinical report and photographic life history of our previously reported patient. Previous case reports of this new syndrome have not described the prognosis or natural history of these patients...
  5. pmc Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization
    Jm Friedman
    Department of Medical Genetics, University of British Columbia, Vancouver, Canada
    BMC Genomics 10:526. 2009
    ..However, there is no agreement regarding the kind of array, the distribution of probes across the genome, or the resolution that is most appropriate for clinical use...
  6. doi request reprint A novel de novo 1.1 Mb duplication of 17q21.33 associated with cognitive impairment and other anomalies
    Farah R Zahir
    Department of Medical Genetics, University of British Columbia, Children s and Women s Hospital, Vancouver, British Columbia, Canada
    Am J Med Genet A 149:1257-62. 2009
    ..1). The patient has microcephaly, unusual cup-shaped ears, scoliosis and other skeletal defects. Two genes involved in the duplicated region, PPP1R9B and COL1A1, are strong candidates for producing her phenotype...
  7. pmc Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation
    Tracy Tucker
    Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada
    BMC Med Genomics 4:25. 2011
    ..A number of whole genome array genomic hybridization platforms are available, but little is known about their comparative performance in a clinical context...
  8. ncbi request reprint X chromosome inactivation patterns in Russell-Silver syndrome patients and their mothers
    Christy L Beever
    Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada
    Am J Med Genet A 123:231-5. 2003
    ..s.). Different mechanisms may underlie the increase in skewing in each group, possibly being due to different X-linked mutations or growth restriction during very early in utero development...
  9. ncbi request reprint Origin of amnion and implications for evaluation of the fetal genotype in cases of mosaicism
    Wendy P Robinson
    Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada
    Prenat Diagn 22:1076-85. 2002
    ..To investigate presence of trisomy in amniotic epithelium (uncultured amnion) and mesenchyme (cultured amnion) from mosaic cases to understand the origins of these tissues and their relationship to pregnancy outcome...
  10. pmc Assessment of algorithms for high throughput detection of genomic copy number variation in oligonucleotide microarray data
    Agnes Baross
    Genome Sciences Centre, BC Cancer Agency, British Columbia Cancer Agency, Suite 100, 570 West 7th Avenue, Vancouver, BC, V5Z 4S6, Canada
    BMC Bioinformatics 8:368. 2007
    ..The popularity of this technology and its associated open source data format have resulted in the development of an increasing number of software packages for the analysis of copy number changes using these SNP arrays...
  11. pmc Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children
    Farah Zahir
    Department of Medical Genetics, University of British Columbia, Children s and Women s Hospital, Vancouver, Canada
    J Med Genet 44:556-61. 2007
    ..All three children have similar dysmorphic features, including widely-spaced eyes, short nose with flat nasal bridge, long philtrum, prominent Cupid's bow of the upper lip, full lower lip and similar auricular anomalies...
  12. ncbi request reprint The association between preeclampsia and placental trisomy 16 mosaicism
    Paul J Yong
    Department of Medical Genetics, Vancouver, BC, Canada
    Prenat Diagn 26:956-61. 2006
    ..While maternal preeclampsia has also been reported in some cases, this has not been systematically evaluated...
  13. doi request reprint Methylation profiling in individuals with Russell-Silver syndrome
    Maria S Penaherrera
    Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada
    Am J Med Genet A 152:347-55. 2010
    ..While the association of hypomethylation of the H19/IGF2 ICR1 is clear, the continuous distribution of methylation values among the patients and controls complicates the establishment of clear cut-offs for clinical diagnosis...
  14. ncbi request reprint Familial cryptic translocation (2;17) ascertained through recurrent spontaneous abortions
    Helene Bruyere
    Department of Pathology and Laboratory Medicine, University of British Columbia, Canada
    Am J Med Genet A 123:285-9. 2003
    ..Retrospective CGH analysis on one baby who died neonatally showed that he had inherited the maternal translocation in the same unbalanced state as the last pregnancy loss. His detailed postmortem examination is reported...
  15. doi request reprint An evaluation of the decision-making process regarding amniocentesis following a screen-positive maternal serum screen result
    Christine Kobelka
    University of British Columbia, Department of Medical Genetics, Vancouver, Canada
    Prenat Diagn 29:514-9. 2009
    ..To identify the decision-making factors and personal characteristics of women who opt for and against amniocentesis following a screen-positive maternal serum screen (MSS) result...
  16. ncbi request reprint Dispermy--origin of diandric triploidy: brief communication
    Deborah E McFadden
    Departments of Pathology and Medical Genetics, Children s and Women s Hospital of BC and University of British Columbia, Vancouver, BC V6H 3V4, Canada
    Hum Reprod 17:3037-8. 2002
    ..Using molecular markers very close to the centromere, all 14 cases of diandric triploidy were shown to be the result of dispermy with no evidence to support a meiotic error as the origin of diandric triploids...
  17. ncbi request reprint Renal-hepatic-pancreatic dysplasia: an autosomal recessive condition that is not linked to the PKHD1 gene on chromosome 6p21.1-p12
    Kasmintan A Schrader
    Department of Medical Genetics, University of British Columbia, Canada
    Am J Med Genet A 143:1806-8. 2007
  18. ncbi request reprint The impact of prenatal diagnosis on neural tube defect (NTD) pregnancy versus birth incidence in British Columbia
    Margot I Van Allen
    Department of Medical Genetics, University of British Columbia, C234 4500 Oak Street, Vancouver, B C, Canada V6H 3N1
    J Appl Genet 47:151-8. 2006
    ..Continued efforts for primary and the option of secondary prevention of NTDs are recommended in order to improve newborn health in B.C. and elsewhere. These interventions need to be monitored, however, for optimal health care planning...
  19. ncbi request reprint The tale of a belly button: Rieger syndrome
    Minesh Khashu
    Children s and Women s Health Centre of British Columbia, Division of Neonatology, University of Bristish Columbia, Vancouver, BC, Canada
    Clin Pediatr (Phila) 45:453-5. 2006
  20. pmc Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation
    J M Friedman
    Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada
    Am J Hum Genet 79:500-13. 2006
    ..This technology can detect at least twice as many potentially pathogenic de novo copy-number variants as conventional cytogenetic analysis can in people with mental retardation...
  21. doi request reprint Precocious puberty in two girls with PEHO syndrome: a clinical feature not previously described
    Majid Alfadhel
    Department of Biochemical Diseases, BC Children s and Women s Hospital, Vancouver, BC, Canada
    J Child Neurol 26:851-7. 2011
    ..The authors also present their clinical features and the results of investigations, including radiological findings, and compare the patients of this report to previously reported cases...
  22. ncbi request reprint Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation
    Andre Mattman
    Genes, Elements, and Metabolism Program, Children and Women s Hospital of British Columbia, Vancouver, British Columbia, Canada
    Blood 100:1075-7. 2002
    ..This putative mutation was found in a severely affected Portuguese man and 2 family members with the same genotype. In summary, pathologic TfR2 mutations are present outside of Italy, accounting for a small proportion of non-C282Y HH...
  23. ncbi request reprint Amended Canadian guideline for prenatal diagnosis (2005) change to 2005-techniques for prenatal diagnosis
    R D Wilson
    J Obstet Gynaecol Can 27:1048-62. 2005
  24. ncbi request reprint Maternal serum screening in triploidy
    Deborah E McFadden
    Prenat Diagn 22:1113-4. 2002
  25. ncbi request reprint Carrier screening for genetic disorders in individuals of Ashkenazi Jewish descent
    Sylvie Langlois
    J Obstet Gynaecol Can 28:324-43. 2006
  26. ncbi request reprint Prenatal screening for fetal aneuploidy
    Anne M Summers
    J Obstet Gynaecol Can 29:146-79. 2007
    ..To develop a Canadian consensus document with recommendations on maternal screening for fetal aneuploidy(e.g., Down syndrome and trisomy 18) in pregnancy...
  27. ncbi request reprint 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
    R Douglas Wilson
    Philadelphia PA, USA
    J Obstet Gynaecol Can 29:1003-26. 2007
    ..OPTION: Supplementation with folic acid and vitamins is problematic, since 50% of pregnancies are unplanned, and women's health status may not be optimal when they conceive...
  28. ncbi request reprint Mid-trimester amniocentesis fetal loss rate
    R Douglas Wilson
    J Obstet Gynaecol Can 29:586-95. 2007
    ..To determine the postprocedure loss rate for mid-trimester genetic amniocentesis...
  29. ncbi request reprint Principles of human teratology: drug, chemical, and infectious exposure
    R Douglas Wilson
    Philadelphia, PA, USA
    J Obstet Gynaecol Can 29:911-26. 2007
    ..To provide a teratology update for prescription and non-prescription drugs and infections during pregnancy...
  30. ncbi request reprint Teratogenicity associated with pre-existing and gestational diabetes
    Victoria M Allen
    Halifax, NS, Canada
    J Obstet Gynaecol Can 29:927-44. 2007
    ....
  31. ncbi request reprint New molecular techniques for the prenatal detection of chromosomal aneuploidy
    Rebecca Sparkes
    Calgary AB, Canada
    J Obstet Gynaecol Can 30:617-21, 622-7. 2008
    ..To review the molecular genetic techniques currently available for rapid prenatal diagnosis of fetal aneuploidy, as well as those still under investigation...
  32. ncbi request reprint De novo mutation of the DHCR7 gene in a fetus with severe Smith-Lemli-Opitz (or RSH) syndrome
    John S Waye
    1Hamilton Regional Laboratory Medicine Program, Hamilton, Ontario, Canada
    Am J Med Genet A 143:1799-801. 2007