Genomes and Genes
Affiliation: University of British Columbia
- Copy number variants (CNVs) analysis in a deeply phenotyped cohort of individuals with intellectual disability (ID)Ying Qiao
Department of Pathology Cytogenetics, BC Child and Family Research Institute, University of British Columbia UBC, 950 West 28th, Room 3060, Vancouver, BC V5Z 4H4, Canada
BMC Med Genet 15:82. 2014....
- Chromosome microarrays in human reproductionEvica Rajcan-Separovic
Department of Pathology and Laboratory Medicine Cytogenetics, University of British Columbia, Children s and Women s Health Centre of BC and Child and Family Research Institute, Vancouver, BC, Canada V5Z 4H4
Hum Reprod Update 18:555-67. 2012..Chromosome microarray (CMA) testing allows automatic and easy identification of large chromosomal abnormalities detectable by conventional cytogenetics as well as the detection of submicroscopic chromosomal imbalances...
- Identification of copy number variants in miscarriages from couples with idiopathic recurrent pregnancy lossE Rajcan-Separovic
Department of Pathology and Lab Medicine, University of British Columbia, Vancouver, BC, Canada
Hum Reprod 25:2913-22. 2010..In this study, we investigated the possibility that submicroscopic chromosomal changes, not detectable by conventional cytogenetic analysis, exist in miscarriages with normal karyotypes (46,XY or 46,XX) from couples with idiopathic RPL...
- Genomic changes detected by array CGH in human embryos with developmental defectsE Rajcan-Separovic
Department of Pathology and Laboratory Medicine, University of British Columbia UBC, Vancouver, BC, Canada, V5Z 4H4
Mol Hum Reprod 16:125-34. 2010..Our report describes for the first time, de novo and inherited unique CNVs in euploid human embryos with specific developmental defects...
- Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGHChristine Tyson
Department of Pathology and Laboratory Medicine and Child and Family Research Institute CFRI, UBC, Vancouver, BC, Canada
Mol Cytogenet 1:23. 2008..Array-based comparative genomic hybridization (array-CGH) has offered new opportunities to identify and refine chromosomal abnormalities in regions known to be associated with clinical syndromes...
- Recurrent trisomy 15 in a female carrier of der(15)t(Y;15)(q12;p13)E Rajcan-Separovic
British Columbia s Children s Hospital, Department of Pathology, Cytogenetics, Vancouver, British Columbia, Canada
Am J Med Genet 99:320-4. 2001..This finding raises the possibility that there may be an increased risk for trisomy 15 in some carriers of unbalanced t(Y;15) which, if followed by trisomic zygote rescue, may lead to uniparental disomy (UPD)...
- Interphase fluorescence in situ hybridization and DNA flow cytometry analysis of medulloblastomas with a normal karyotypeEvica Rajcan-Separovic
Department of Pathology, British Columbia s Children s Hospital, 4480 Oak Street, V6H 3V4, BC, Vancouver, Canada
Cancer Genet Cytogenet 133:94-7. 2002..These findings show that molecular cytogenetic analysis combined with DNA flow cytometry is necessary for all pediatric medulloblastomas diagnosed as cytogenetically normal on cultured tumor tissue...
- Loss of 1p and 7p in radiation-induced meningiomas identified by comparative genomic hybridizationEvica Rajcan-Separovic
Cytogenetics Laboratory, Department of Pathology, University of British Columbia, BC Children s Hospital, Vancouver, BC, Canada
Cancer Genet Cytogenet 144:6-11. 2003..Molecular and cytogenetic studies of chromosome 7 copy number should be attempted on a larger number of RIM to further investigate the role of 7p loss in RIM...
- Familial cryptic translocation (2;17) ascertained through recurrent spontaneous abortionsHelene 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...
- Screening for submicroscopic chromosomal rearrangements in Wilms tumor using whole-genome microarraysShahrad Rod Rassekh
Division of Pediatric Hematology Oncology BMT, Department of Pediatrics, British Columbia Children s Hospital, 4480 Oak Street, Vancouver, BC V6R 3M9, Canada
Cancer Genet Cytogenet 182:84-94. 2008..The breakpoints were seen in the pericentromeric regions of both chromosomes. Array CGH is useful for identifying submicroscopic changes in Wilms tumor and is more sensitive for detecting clonal abnormalities than conventional methods...
- Elucidation of a cryptic interstitial 7q31.3 deletion in a patient with a language disorder and mild mental retardation by array-CGHChristine Tyson
Department of Pathology, University of British Columbia, Vancouver, British Columbia, Canada
Am J Med Genet A 129:254-60. 2004..It has demonstrated that the array-CGH technique provides a much greater insight into submicroscopic chromosome imbalances than conventional cytogenetic techniques...
- Unexpected embryonic stem (ES) cell mutations represent a concern in gene targeting: lessons from "fierce" miceRavinesh A Kumar
Doctorate Program in Medical Genetics, University of British Columbia, Vancouver, British Columbia, V5Z 4H4 Canada
Genesis 38:51-7. 2004....
- Large-scale copy number variants (CNVs): distribution in normal subjects and FISH/real-time qPCR analysisYing Qiao
Department of Pathology, UBC, Children s and Women s Health Centre of BC, Vancouver, British Columbia, Canada
BMC Genomics 8:167. 2007..A selection of CNVs was further analyzed by FISH and real-time quantitative PCR (RT-qPCR)...
- Phenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2p13.2Jiadi Wen
Child and Family Research Institute, Department of Pathology, University of British Columbia, Vancouver, BC, Canada
Orphanet J Rare Dis 8:100. 2013..However, at the cellular level, the functional consequences of recurrent genomic abnormalities and how they can be linked to the phenotype are much less investigated...
- Phenotype-genotype characterization of alpha-thalassemia mental retardation syndrome due to isolated monosomy of 16p13.3William T Gibson
Department of Medical Genetics, Child and Family Research Institute, UBC, Vancouver, BC, Canada
Am J Med Genet A 146:225-32. 2008..We describe detailed molecular cytogenetic and clinical findings relating to a subject with ATR-16...
- Understanding the impact of 1q21.1 copy number variantChansonette Harvard
Child and Family Research Institute, Molecular Cytogenetics and Array Laboratory, 950 West 28th Avenue, Vancouver, BC, Canada
Orphanet J Rare Dis 6:54. 2011..Here we described the consequences of the 1q21.1 CNV on genome-wide gene expression and function of selected candidate genes within 1q21.1 using cell lines from clinically well described subjects...
- Metaphase FISHing of transgenic mice recommended: FISH and SKY define BAC-mediated balanced translocationBrett S Abrahams
Graduate Program in Neuroscience, Department of Medical Genetics, University of Columbia, Vancouver, British Columbia, Canada
Genesis 36:134-41. 2003..This is the first description of a BAC-mediated chromosomal rearrangement and the first application of SKY to identify transgene-induced chromosomal rearrangements...
- 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...
- Genotype-phenotype analysis of 18q12.1-q12.2 copy number variation in autismPeter Wang
Department of Biochemistry and Molecular Biology, University of British Columbia, Vancouver, Canada
Eur J Med Genet 56:420-5. 2013..The collective clinical and molecular features common to microduplication 18q12.1 suggest that dosage-sensitive, position or contiguous gene effects may be associated in the etiopathogenesis of this autism-ID-epilepsy syndrome...
- Comparative genomic hybridization of Wilms' tumorShahrad Rod Rassekh
Division of Hematology Oncology BMT, Department of Pediatrics, British Columbia s Children s Hospital, University of British Columbia, Vancouver, BC, Canada
Methods Mol Biol 973:249-65. 2013....
- miRNA and miRNA target genes in copy number variations occurring in individuals with intellectual disabilityYing Qiao
Department of Pathology and Lab Medicine, BC Child and Family Research Institute, University of British Columbia, Vancouver, BC V5Z 4H4, Canada
BMC Genomics 14:544. 2013..It has been recently shown that genomic copy number variations (CNVs) can cause aberrant expression of integral miRNAs and their target genes, and contribute to intellectual disability (ID)...
- Molecular cytogenetics in reproductive pathologyHelene Bruyere
Cytogenetics, Department of Pathology, Vancouver Hospital and Health Sciences Center, Vancouver, BC, Canada
Methods Mol Biol 204:299-307. 2002..These molecular techniques clearly represent a significant advantage over the traditional cytogenetic technique and likely will become the predominant cytogenetic techniques in reproductive cytogenetics of the future...