Affiliation: The Hospital for Sick Children
- Tumor development in the Beckwith-Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1R Weksberg
Division of Clinical and Metabolic Genetics, Department of Paediatrics, Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada
Hum Mol Genet 10:2989-3000. 2001..This suggests that distinct tumor predisposition profiles result from dysregulation of the telomeric domain versus the centromeric domain and that these imprinting defects activate distinct genetic pathways for embryonal tumorigenesis...
- Imprinting status of 11p15 genes in Beckwith-Wiedemann syndrome patients with CDKN1C mutationsM Li
Division of Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, Ontario, M5G 1X8, Canada
Genomics 74:370-6. 2001..9%. This is the first report of an analysis of the imprinting status of genes in the 11p15 region where CDKN1C mutations were associated with loss of IGF2 imprinting and maintenance of H19 and KCNQ1OT1 imprinting...
- GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndromeM Li
Hospital for Sick Children and Division of Clinical and Metabolic Genetics, University of Toronto, Toronto, Ontario, Canada
Am J Med Genet 102:161-8. 2001..Our data also suggest that nephroblastomatosis and hepatoblastoma are included in the phenotypic spectrum of GPC3 deletions and SGBS, underscoring the importance of tumor surveillance in these children...
- New chromosome 11p15 epigenotypes identified in male monozygotic twins with Beckwith-Wiedemann syndromeA C Smith
Institute of Medical Sciences, University of Toronto, Toronto, Canada
Cytogenet Genome Res 113:313-7. 2006..These data underscore the need for molecular testing in BWS twins, especially in view of the known differences among 11p15 epigenotypes with respect to tumor risk...
- Association of alveolar rhabdomyosarcoma with the Beckwith-Wiedemann syndromeA C Smith
Institute of Medical Sciences, University of Toronto, Medical Sciences Building, 1 King's College Circle, Toronto, Ontario M5S 1A8, Canada
Pediatr Dev Pathol 4:550-8. 2001..The absence of the translocations commonly associated with alveolar rhabdomyosarcoma suggests a common 11p15 pathway for alveolar RMS and BWS...
- Mapping of the gene encoding the integrin-linked kinase, ILK, to human chromosome 11p15.5-p15.4G E Hannigan
Department of Paediatric Laboratory Medicine, Hospital for Sick Children, Toronto, Canada
Genomics 42:177-9. 1997..This location may be important in evaluating the potential role of p59ILK in tumorigenesis since it has been shown that this region is associated with both genomic imprinting and loss of heterozygosity in certain types of tumor...
- Decreased elastin deposition and high proliferation of fibroblasts from Costello syndrome are related to functional deficiency in the 67-kD elastin-binding proteinA Hinek
Division of Cardiovascular Research, The Hospital for Sick Children, Toronto, ON M5G 1X8 Canada
Am J Hum Genet 66:859-72. 2000..We also present evidence that loss of EBP from fibroblasts of Costello syndrome patients is associated with an unusually high rate of cellular proliferation...
- NSD1 mutations generate a genome-wide DNA methylation signatureS Choufani
Program in Genetics and Genome Biology, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, Canada M5G 1X8
Nat Commun 6:10207. 2015..The identification of SS-specific genome-wide DNAm alterations will facilitate both the elucidation of the molecular pathophysiology of SS and the development of improved diagnostic testing. ..
- Linkage study in families with posterior helical ear pits and Wiedemann-Beckwith syndromeC L Barr
Department of Psychiatry, The Hospital for Sick Children, The Toronto Western Hospital, University of Toronto, Toronto, Ontario, Canada
Am J Med Genet 104:120-6. 2001..Alternatively, the PHEP phenotype may occur independently of WBS so that the association of WBS and PHEP in our pedigrees may, in fact, represent causal heterogeneity...
- Parents' Experience with Pediatric Microarray: Transferrable Lessons in the Era of Genomic CounselingR Z Hayeems
Program in Child Health Evaluative Sciences, The Hospital for Sick Children Research Institute, Toronto, ON, Canada
J Genet Couns 25:298-304. 2016..Empiric research that links pre-test counseling content and psychosocial outcomes is warranted to optimize patient care...
- Low platelet count in a 22q11 deletion syndrome subtype of schizophreniaK Lazier
Schizophrenia Research Program, Queen Street Division, Centre for Addiction and Mental Health, Ontario, M6J 1H4, Toronto, Canada
Schizophr Res 50:177-80. 2001....
- Overgrowth syndromes and genomic imprinting: from mouse to manM Li
Department of Genetics, Hospital for Sick Children, Toronto, Ontario, Canada
Clin Genet 53:165-70. 1998..At this time, there are still many issues which remain to be explored before we can fully understand the molecular basis of BWS and SGBS...
- EBV transformation and cell culturing destabilizes DNA methylation in human lymphoblastoid cell linesD Grafodatskaya
Hospital for Sick Children Research Institute, Toronto, Ontario, Canada
Genomics 95:73-83. 2010....
- Alström syndrome: further evidence for linkage to human chromosome 2p13G B Collin
The Jackson Laboratory, Bar Harbor, ME 04609 1500, USA
Hum Genet 105:474-9. 1999..Meiotic recombination events have localized the critical region containing ALMS1 to a 6.1-cM interval flanked by markers D2S327 and D2S286. A fine resolution radiation hybrid map of 31 genes and markers has been constructed...
- Mapping of a new SGBS locus to chromosome Xp22 in a family with a severe form of Simpson-Golabi-Behmel syndromeL M Brzustowicz
Center for Molecular and Behavioral Neuroscience, Rutgers University, Newark, NJ 07102, USA
Am J Hum Genet 65:779-83. 1999..31 and with LOD scores <-2.0 for all of Xq. These results demonstrate that neither the GPC3 gene nor other genes on Xq26 are responsible for all cases of SGBS and that a second SGBS locus resides on Xp22...