Research Topics
Species | Berivan BaskinSummaryAffiliation: The Hospital for Sick Children Country: Canada Publications
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Detail Information
Publications
Duchenne muscular dystrophy caused by a complex rearrangement between intron 43 of the DMD gene and chromosome 4Berivan Baskin
Division of Molecular Genetics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada
Neuromuscul Disord 21:178-82. 2011....
PreBIND and Textomy--mining the biomedical literature for protein-protein interactions using a support vector machineIan Donaldson
Samuel Lunenfeld Research Institute, Toronto, M5G 1X5, Canada
BMC Bioinformatics 4:11. 2003..We present an information extraction system that was designed to locate protein-protein interaction data in the literature and present these data to curators and the public for review and entry into BIND...
Becker muscular dystrophy caused by an intronic mutation reducing the efficiency of the splice donor site of intron 26 of the dystrophin geneBerivan Baskin
Division of Molecular Genetics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, 555 University Avenue, Toronto, Ont, Canada
Neuromuscul Disord 19:189-92. 2009..We highlight the importance of mRNA analysis for determination of pathogenicity in patients with ambiguous sequence variants in the DMD gene...
Paternal isodisomy of chromosome 2 as a cause of long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiencyBerivan Baskin
Division of Molecular Genetics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada
Am J Med Genet A 152:1808-11. 2010..We highlight the importance of parental testing in cases of homozygosity in autosomal recessive disorders and its impact on genetic counseling of the family...
Monoallelic expression determines oncogenic progression and outcome in benign and malignant brain tumorsErin J Walker
Division of Haematology Oncology, The Labatt Brain Tumor Research Centre, The Hospital for Sick Children, Toronto General Hospital, Toronto, Ontario, Canada
Cancer Res 72:636-44. 2012..Further exploration of MAE at relevant genes may contribute to better understanding of tumor development and determine survival in brain tumor patients...
TP53 alterations determine clinical subgroups and survival of patients with choroid plexus tumorsUri Tabori
The Hospital for Sick Children, Division of Hematology Oncology, 555 University Ave, Toronto, Ontario, M5G 1X8, Canada
J Clin Oncol 28:1995-2001. 2010..CONCLUSION Patients with CPC who have low tumor TSV and absence of TP53 dysfunction have a favorable prognosis and can be successfully treated without radiation therapy...
Walker-Warburg Syndrome with POMT1 mutations can be associated with cleft lip and cleft palateJiri Vajsar
Division of Neurology, The Hospital for Sick Children, 555 University Avenue, Toronto, Ont, Canada M5G 1X8
Neuromuscul Disord 18:675-7. 2008..We recommend POMT1 analysis in WWS cases associated with cleft lip and palate when considering which gene to sequence first...
A common molecular mechanism underlies two phenotypically distinct 17p13.1 microdeletion syndromesAdam Shlien
The Hospital for Sick Children, Toronto, ON, Canada
Am J Hum Genet 87:631-42. 2010..Future studies should consider whether other loci in the genome also give rise to phenotypically distinct disorders by means of a common mechanism, resulting in a similar formation signature...
Milder phenotype of congenital muscular dystrophy in a novel POMT1 mutationSamiah A Al-Zaidy
Neurology Division, Hospital for Sick Children, Toronto, Canada
Muscle Nerve 45:752-5. 2012..Congenital muscular dystrophies (CMD) with hypoglycosylated ?-dystroglycan due to POMT1 mutations are associated with clinical phenotypes that vary in severity...
Recurrent focal copy-number changes and loss of heterozygosity implicate two noncoding RNAs and one tumor suppressor gene at chromosome 3q13.31 in osteosarcomaIvan Pasic
Institute of Medical Science, Department of Medical Biophysics, University of Toronto, and Program in Genetics and Genome Biology, Department of Pediatric Laboratory Medicine, Division of Hematology Oncology, The Hospital for Sick Children, Toronto, Ontario, Canada
Cancer Res 70:160-71. 2010..Moreover, genetic deletions of LOC285194 or BC040587 were also associated with poor survival of osteosarcoma patients. Our findings identify osteo3q13.31 as a novel region of cooperatively acting tumor suppressor genes...
Universal poor survival in children with medulloblastoma harboring somatic TP53 mutationsUri Tabori
Divisions of Haematology Oncology, The LabattBrain Tumor Research Centre, TheHospital for Sick Children, Toronto, Ontario, Canada
J Clin Oncol 28:1345-50. 2010....
Molecular diagnosis of 22q11.2 deletion and duplication by multiplex ligation dependent probe amplificationAndrea C Stachon
Institute of Medical Science, University of Toronto, Toronto, Canada
Am J Med Genet A 143:2924-30. 2007..Additional advantages of MLPA testing in our study included determination of deletion length and detection of 22q11.2 duplications. (c) 2007 Wiley-Liss, Inc...
