M
Margaret Thompson
Researcher at University of Toronto
Publications - 38
Citations - 1771
Margaret Thompson is an academic researcher from University of Toronto. The author has contributed to research in topics: Duchenne muscular dystrophy & Muscular dystrophy. The author has an hindex of 16, co-authored 37 publications receiving 1692 citations. Previous affiliations of Margaret Thompson include St. Michael's Hospital.
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Journal ArticleDOI
Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophy.
Peter N. Ray,Bonnie Belfall,Catherine Duff,Cairine Logan,Vanora Kean,Margaret Thompson,James E. Sylvester,Jerome L. Gorski,Roy D. Schmickel,Ronald G. Worton +9 more
TL;DR: In this article, the authors used rRNA sequences as probes to clone the region spanning the translocation breakpoint, which was then used to detect a restriction fragment length polymorphism (RFLP) which was closely linked to the DMD gene and uncovers chromosomal deletions in some male DMD patients.
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Frame-shift deletions in patients with Duchenne and Becker muscular dystrophy
S. B. Malhotra,K. A. Hart,Henry J. Klamut,Nicholas Stuart Tudor Thomas,S. E. Bodrug,Arthur H.M. Burghes,M. Bobrow,P. S. Harper,Margaret Thompson,Peter N. Ray,Ronald G. Worton +10 more
TL;DR: In a number of BMD patients (mild and severe BMD), the reading frame of messenger RNA was not maintained, and a model for reinitiation from an internal start codon is suggested.
Journal Article
Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin, and phenotypegenotype correlation.
TL;DR: A survey for duplication in 72 unrelated nondeletion patients, analyzed by Southern blot hybridization with clones representing the entire DMD cDNA revealed a grandpaternal origin of duplication in four families and grandmaternal origin in one family.
Journal Article
Molecular and phenotypic analysis of patients with deletions within the deletion-rich region of the Duchenne muscular dystrophy (DMD) gene.
Elizabeth F. Gillard,J. S. Chamberlain,E. G. Murphy,Catherine Duff,B. Smith,Arthur H.M. Burghes,Margaret Thompson,Joanne Sutherland,I. Oss,S. E. Bodrug,Henry J. Klamut,Peter N. Ray,Ronald G. Worton +12 more
TL;DR: With two exceptions, frameshift deletions of the DMD gene resulted in more severe phenotype than did in-frame deletions, in agreement with recent findings by Baumbach et al. and Koenig et al, but is in contrast to findings, by Malhotra et al., at the 5' end of the gene.
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Specific cellular defects in patients with Fanconi anemia
TL;DR: It is shown that fibroblast from patients with Fanconi anemia have decreased probability of completing a further division after successful mitosis, and FA cells show decreased growth rates and increased generation times.