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Ian MacDonald
Researcher at University of Ottawa
Publications - 6
Citations - 94
Ian MacDonald is an academic researcher from University of Ottawa. The author has contributed to research in topics: Genomic library & Library. The author has an hindex of 5, co-authored 6 publications receiving 93 citations. Previous affiliations of Ian MacDonald include Children's Hospital of Eastern Ontario.
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Journal ArticleDOI
Decrease in the size of the myotonic dystrophy CTG repeat during transmission from parent to child: Implications for genetic counselling and genetic anticipation
Alasdair G. W. Hunter,Pierre Jacob,Pierre Jacob,Kim O'Hoy,Ian MacDonald,Ian MacDonald,Gabrielle Mettler,C. Tsilfidis,Robert G. Korneluk,Robert G. Korneluk +9 more
TL;DR: 3 families where CTG amplification decreased during transmission from parent to child are reported, with changes appear to have been accompanied by a reduction in clinical severity in the child when compared to the parent.
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Apparent Smith–Lemli–Opitz syndrome in a child with a previously undescribed form of mucolipidosis not involving the neurons
TL;DR: A causal link between the clinical anomalies and the storage disorder cannot be argued convincingly on the basis of one case, but careful pathologic studies of other children who die with clinical signs compatible with Smith-Lemli-Opitz syndrome are indicated.
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Differentiation of fluoride-stimulated and non-fluoride-stimulated components of beef brain cortex adenylate cyclase by calcium ions, ethyleneglycol-bis-(β-aminoethyl ether) N,N′-tetraacetic acid and triton X-100
TL;DR: Beef brain cortex adenylate cyclase (ATP pyrophosphate-lyase (cyclizing) EC 4.6.1) activity is 84–88% inhibited by ethyleneglycol-bis-( β -aminoethyl ether) N , N ′-tetraacetic acid in the absence of F − but only 50–60% inhibition by 5 · 10 −5 M ethyl Montenegro-bis-bis N, N •
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Neuroaxonal dystrophy presenting with neonatal dysmorphic features, early onset of peripheral gangrene, and a rapidly lethal course.
Alasdair G. W. Hunter,Alasdair G. W. Hunter,Carmencita L. Jimenez,Blair F. Carpenter,Ian MacDonald,John M. Opitz,James F. Reynolds +6 more
TL;DR: 2 brothers who were affected at birth and had an unusual clinical course with onset of peripheral gangrene that progressed to autoamputation of digits died in infancy with pathological changes compatible with IND.
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Use of the polymerase chain reaction for the differential cross screening of libraries cloned into phage-lambda-based vectors.
TL;DR: The use of this method for the systematic isolation of human X-chromosome-linked genomic clones that harbor sequences expressed in human chorioretinal tissue is illustrated.