P
Paulino D. Pabello
Researcher at University of Saskatchewan
Publications - 4
Citations - 41
Paulino D. Pabello is an academic researcher from University of Saskatchewan. The author has contributed to research in topics: Gene mapping & Microchromosome. The author has an hindex of 3, co-authored 4 publications receiving 41 citations.
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Ring chromosome 17 in a mentally retarded young man—clinical, cytogenetic, and biochemical investigations
Albert E. Chudley,Paulino D. Pabello,Phyllis J. McAlpine,Barbara E. Nickel,M. H. K. Shokeir,John M. Opitz +5 more
TL;DR: A young, mentally retarded man with seizures was discovered to have a ring chromosome 17 and the patient's deletion and genotype allowed us to reduce further the chromosome location of the acid alpha-glucosidase gene.
Journal ArticleDOI
Familial supernumerary microchromosome mosaicism: phenotypic effects and an attempt at characterization.
TL;DR: The father and both daughters were noted to be mosaic for the MC, perhaps suggesting mitotic instability of the MC cell line with loss over time.
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