Linlea Armstrong

Summary

Affiliation: University of British Columbia
Country: Canada

Publications

  1. pmc Cost-effectiveness of MRI for breast cancer screening in BRCA1/2 mutation carriers
    Reka Pataky
    Cancer Control Research, BC Cancer Agency, 675 W, 10th Ave, Vancouver, BC V5Z 1L3, Canada
    BMC Cancer 13:339. 2013
  2. doi request reprint The generalized bone phenotype in children with neurofibromatosis 1: a sibling matched case-control study
    Linlea Armstrong
    Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada
    Am J Med Genet A 161:1654-61. 2013
  3. pmc Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1
    Wai Man Chan
    Program in Genomics, Children s Hospital Boston, Boston, MA 02115, USA
    BMC Genet 8:26. 2007
  4. ncbi request reprint Further delineation of Kabuki syndrome in 48 well-defined new individuals
    Linlea Armstrong
    Department of Genetics, Children s Hospital of Eastern Ontario, Ottawa, Ontario, Canada
    Am J Med Genet A 132:265-72. 2005
  5. ncbi request reprint Unrelated patients with a rearrangement of chromosome 2 causing duplication of 2p23 and deletion of 2q37
    Linlea Armstrong
    Department of Genetics, Children s Hospital of Eastern Ontario, Ottawa, Ontario, Canada
    Am J Med Genet A 134:299-304. 2005
  6. ncbi request reprint The Hunter-MacDonald syndrome with expanded phenotype including risk of meningioma: an update and review
    Linlea Armstrong
    Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada
    Am J Med Genet A 146:83-92. 2008
  7. 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
  8. doi request reprint Independent post-zygotic breaks of a dicentric chromosome result in mosaicism for an inverted duplication deletion 9p and terminal deletion 9p
    Kamilla Schlade-Bartusiak
    Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, Canada
    Eur J Med Genet 56:229-35. 2013
  9. doi request reprint Cerebrovasculopathy in NF1 associated with ocular and scalp defects
    Matt Smith
    Provincial Medical Genetics Programme, University of British Columbia, Vancouver, British Columbia, Canada
    Am J Med Genet A 155:380-5. 2011
  10. doi request reprint A characteristic syndrome associated with microduplication of 8q12, inclusive of CHD7
    Anna M Lehman
    Department of Medical Genetics, University of British Columbia, Canada
    Eur J Med Genet 52:436-9. 2009

Collaborators

Detail Information

Publications17

  1. pmc Cost-effectiveness of MRI for breast cancer screening in BRCA1/2 mutation carriers
    Reka Pataky
    Cancer Control Research, BC Cancer Agency, 675 W, 10th Ave, Vancouver, BC V5Z 1L3, Canada
    BMC Cancer 13:339. 2013
    ..The purpose of this study was to calculate the cost-effectiveness of MRI screening for breast cancer in BRCA1/2 mutation carriers in a Canadian setting...
  2. doi request reprint The generalized bone phenotype in children with neurofibromatosis 1: a sibling matched case-control study
    Linlea Armstrong
    Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada
    Am J Med Genet A 161:1654-61. 2013
    ..Effects of decreased neurofibromin on bone turnover, calcium homeostasis, and pubertal development may contribute to the differences in bone mineral content observed among people with NF1...
  3. pmc Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1
    Wai Man Chan
    Program in Genomics, Children s Hospital Boston, Boston, MA 02115, USA
    BMC Genet 8:26. 2007
    ..To further define the spectrum of KIF21A mutations in CFEOM we have now identified all CFEOM probands newly enrolled in our study and determined if they harbor mutations in KIF21A...
  4. ncbi request reprint Further delineation of Kabuki syndrome in 48 well-defined new individuals
    Linlea Armstrong
    Department of Genetics, Children s Hospital of Eastern Ontario, Ottawa, Ontario, Canada
    Am J Med Genet A 132:265-72. 2005
    ..Very recently, a microduplication of 8p has been described in multiple affected individuals, the proportion of individuals with the duplication is yet to be determined...
  5. ncbi request reprint Unrelated patients with a rearrangement of chromosome 2 causing duplication of 2p23 and deletion of 2q37
    Linlea Armstrong
    Department of Genetics, Children s Hospital of Eastern Ontario, Ottawa, Ontario, Canada
    Am J Med Genet A 134:299-304. 2005
    ..This report should be considered in the reproductive counseling of individuals with pericentric inversions of chromosome 2...
  6. ncbi request reprint The Hunter-MacDonald syndrome with expanded phenotype including risk of meningioma: an update and review
    Linlea Armstrong
    Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada
    Am J Med Genet A 146:83-92. 2008
    ..Herein, we present two cases, and, through review of the manifestations of HMS in affected and at-risk family members, we have observed that predisposition to brain tumor is a cardinal feature of this condition...
  7. 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...
  8. doi request reprint Independent post-zygotic breaks of a dicentric chromosome result in mosaicism for an inverted duplication deletion 9p and terminal deletion 9p
    Kamilla Schlade-Bartusiak
    Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, Canada
    Eur J Med Genet 56:229-35. 2013
    ..Therefore, genotype-phenotype correlations in the inv dup del rearrangements need to take into account the possible presence of other abnormal cell lines during early development...
  9. doi request reprint Cerebrovasculopathy in NF1 associated with ocular and scalp defects
    Matt Smith
    Provincial Medical Genetics Programme, University of British Columbia, Vancouver, British Columbia, Canada
    Am J Med Genet A 155:380-5. 2011
    ..All of these defects may have occurred as a result of disruption of the blood supply caused by NF1 vasculopathy prenatally. This constellation of vascular anomalies has not been previously reported in a patient with NF1...
  10. doi request reprint A characteristic syndrome associated with microduplication of 8q12, inclusive of CHD7
    Anna M Lehman
    Department of Medical Genetics, University of British Columbia, Canada
    Eur J Med Genet 52:436-9. 2009
    ..This rather specific recurrent pattern of congenital anomalies associated with overlapping duplications of the genomic region containing CHD7 suggests that the phenotype in these two patients may be the result of abnormal CHD7 dosage...
  11. ncbi request reprint De novo dup(X)(q22.3q26) in a girl with evidence that functional disomy of X material is the cause of her abnormal phenotype
    Linlea Armstrong
    Eastern Ontario RegionalGenetics Program, Children s Hospital of Eastern Ontario, Ottawa, Canada
    Am J Med Genet A 116:71-6. 2003
    ..We suggest that functional disomy of the duplicated X material, due to local escape from inactivation, may be responsible for the phenotype in the affected females...
  12. doi request reprint A novel KCNA1 mutation associated with global delay and persistent cerebellar dysfunction
    Michelle K Demos
    Department of Pediatric Neurology, British Columbia s Children s Hospital, Vancouver, British Columbia, Canada
    Mov Disord 24:778-82. 2009
    ..Together, our data suggests that KCNA1 mutations are associated with a broader clinical phenotype, which may include persistent cerebellar dysfunction and cognitive delay...
  13. ncbi request reprint A boy with developmental delay, malformations, and evidence of a connective tissue disorder: possibly a new type of cutis laxa
    Linlea Armstrong
    Eastern Ontario Genetics Program, Children s Hospital of Eastern Ontario, Ottawa, Canada
    Am J Med Genet A 119:57-62. 2003
    ..We contrast and compare this boy's phenotype to those of the classic connective tissue disorders. We conclude that he has cutis laxa with features that distinguish him from previously described types of cutis laxa...
  14. 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...
  15. ncbi request reprint Report of a fourth individual with a lethal syndrome of choanal atresia, athelia, evidence of renal tubulopathy, and family history of neck cysts
    Gabriella A Horvath
    Department of Pediatrics, University of British Columbia, Vancouver, British Columbia
    Am J Med Genet A 143:1231-5. 2007
    ..She died after 13 weeks of intensive care. Her mother as a child and maternal grandfather as an adult had neck cysts removed. The similarities between the cases suggest a common syndrome...
  16. 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
    ....
  17. doi request reprint Pre- and postnatal findings in a boy with duplication of the bladder and intestine: report and review
    Majid Alfadhel
    Department of Biochemical Diseases, BC Children s and Women s Hospital, Vancouver, British Columbia, Canada
    Am J Med Genet A 149:2795-802. 2009
    ..This report of prenatal imaging with surgical and pathological correlation contributes to our detailed understanding of the spectrum of anatomy seen in caudal duplication anomaly...