Research Topics
Species | Linlea ArmstrongSummaryAffiliation: University of British Columbia Country: Canada Publications
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Detail Information
Publications
Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1Wai 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...
The Hunter-MacDonald syndrome with expanded phenotype including risk of meningioma: an update and reviewLinlea 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...- Further delineation of Kabuki syndrome in 48 well-defined new individualsLinlea 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... - Unrelated patients with a rearrangement of chromosome 2 causing duplication of 2p23 and deletion of 2q37Linlea 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... 
Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridizationJm 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...- De novo dup(X)(q22.3q26) in a girl with evidence that functional disomy of X material is the cause of her abnormal phenotypeLinlea 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... 
A novel KCNA1 mutation associated with global delay and persistent cerebellar dysfunctionMichelle 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...- A characteristic syndrome associated with microduplication of 8q12, inclusive of CHD7Anna 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... - Report of a fourth individual with a lethal syndrome of choanal atresia, athelia, evidence of renal tubulopathy, and family history of neck cystsGabriella 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... - Oligonucleotide microarray analysis of genomic imbalance in children with mental retardationJ 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... - A boy with developmental delay, malformations, and evidence of a connective tissue disorder: possibly a new type of cutis laxaLinlea 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... - Cerebrovasculopathy in NF1 associated with ocular and scalp defectsMatt 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... - Steroid sulfatase deficiency and contiguous gene deletion syndrome amongst pregnant patients with low serum unconjugated estriolsSylvie Langlois
Medical Genetics, University of British Columbia, Vancouver, Canada
Prenat Diagn 29:966-74. 2009.... - Pre- and postnatal findings in a boy with duplication of the bladder and intestine: report and reviewMajid 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...