R Weksberg

Summary

Affiliation: The Hospital for Sick Children
Country: Canada

Publications

  1. ncbi request reprint Tumor development in the Beckwith-Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1
    R 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
  2. ncbi request reprint Imprinting status of 11p15 genes in Beckwith-Wiedemann syndrome patients with CDKN1C mutations
    M Li
    Division of Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, Ontario, M5G 1X8, Canada
    Genomics 74:370-6. 2001
  3. ncbi request reprint GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndrome
    M 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
  4. ncbi request reprint New chromosome 11p15 epigenotypes identified in male monozygotic twins with Beckwith-Wiedemann syndrome
    A C Smith
    Institute of Medical Sciences, University of Toronto, Toronto, Canada
    Cytogenet Genome Res 113:313-7. 2006
  5. ncbi request reprint Association of alveolar rhabdomyosarcoma with the Beckwith-Wiedemann syndrome
    A 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
  6. ncbi request reprint Mapping of the gene encoding the integrin-linked kinase, ILK, to human chromosome 11p15.5-p15.4
    G E Hannigan
    Department of Paediatric Laboratory Medicine, Hospital for Sick Children, Toronto, Canada
    Genomics 42:177-9. 1997
  7. pmc Decreased elastin deposition and high proliferation of fibroblasts from Costello syndrome are related to functional deficiency in the 67-kD elastin-binding protein
    A Hinek
    Division of Cardiovascular Research, The Hospital for Sick Children, Toronto, ON M5G 1X8 Canada
    Am J Hum Genet 66:859-72. 2000
  8. ncbi request reprint Linkage study in families with posterior helical ear pits and Wiedemann-Beckwith syndrome
    C 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
  9. pmc Low platelet count in a 22q11 deletion syndrome subtype of schizophrenia
    K Lazier
    Schizophrenia Research Program, Queen Street Division, Centre for Addiction and Mental Health, Ontario, M6J 1H4, Toronto, Canada
    Schizophr Res 50:177-80. 2001
  10. ncbi request reprint Overgrowth syndromes and genomic imprinting: from mouse to man
    M Li
    Department of Genetics, Hospital for Sick Children, Toronto, Ontario, Canada
    Clin Genet 53:165-70. 1998

Collaborators

Detail Information

Publications13

  1. ncbi request reprint Tumor development in the Beckwith-Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1
    R 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...
  2. ncbi request reprint Imprinting status of 11p15 genes in Beckwith-Wiedemann syndrome patients with CDKN1C mutations
    M 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...
  3. ncbi request reprint GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndrome
    M 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...
  4. ncbi request reprint New chromosome 11p15 epigenotypes identified in male monozygotic twins with Beckwith-Wiedemann syndrome
    A 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...
  5. ncbi request reprint Association of alveolar rhabdomyosarcoma with the Beckwith-Wiedemann syndrome
    A 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...
  6. ncbi request reprint Mapping of the gene encoding the integrin-linked kinase, ILK, to human chromosome 11p15.5-p15.4
    G 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...
  7. pmc Decreased elastin deposition and high proliferation of fibroblasts from Costello syndrome are related to functional deficiency in the 67-kD elastin-binding protein
    A 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...
  8. ncbi request reprint Linkage study in families with posterior helical ear pits and Wiedemann-Beckwith syndrome
    C 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...
  9. pmc Low platelet count in a 22q11 deletion syndrome subtype of schizophrenia
    K Lazier
    Schizophrenia Research Program, Queen Street Division, Centre for Addiction and Mental Health, Ontario, M6J 1H4, Toronto, Canada
    Schizophr Res 50:177-80. 2001
    ....
  10. ncbi request reprint Overgrowth syndromes and genomic imprinting: from mouse to man
    M 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...
  11. doi request reprint EBV transformation and cell culturing destabilizes DNA methylation in human lymphoblastoid cell lines
    D Grafodatskaya
    Hospital for Sick Children Research Institute, Toronto, Ontario, Canada
    Genomics 95:73-83. 2010
    ....
  12. ncbi request reprint Alström syndrome: further evidence for linkage to human chromosome 2p13
    G 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...
  13. pmc Mapping of a new SGBS locus to chromosome Xp22 in a family with a severe form of Simpson-Golabi-Behmel syndrome
    L 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...