A. Mackenzie

发表

D19S51 is closely linked with and maps distal to the myotonic dystrophy locus on 19q.

G. Shutler, R. Williamson, R. Korneluk, 1991, American journal of human genetics.

Genomic organization and primary characterization of miap-3: the murine homologue of human X-linked IAP.

R. Korneluk, A. Mackenzie, W. G. Fong, 1997, Genomics.

Assessment of a creatine kinase isoform M defect as a cause of myotonic dystrophy and the characterization of two novel CKMM polymorphisms

R. Korneluk, A. Mackenzie, S. Leblond, 1991, Human Genetics.

Watson syndrome: is it a subtype of type 1 neurofibromatosis?

J. Allanson, P. Harper, M. Upadhyaya, 1991, Journal of medical genetics.

The 1.5-Mb region spanning the myotonic dystrophy locus shows uniform recombination frequency.

G. Shutler, R. Korneluk, A. Mackenzie, 1994, American journal of human genetics.

Linkage analysis of the apolipoprotein C2 gene and myotonic dystrophy on human chromosome 19 reveals linkage disequilibrium in a French-Canadian population.

A. Hunter, R. Korneluk, A. Mackenzie, 1989, American journal of human genetics.

Clinical application of the molecular diagnosis of spinal muscular atrophy: deletions of neuronal apoptosis inhibitor protein and survival motor neuron genes.

M. Somerville, L. Surh, A. Hunter, 1997, American journal of medical genetics.

Intergenerational stability of the myotonic dystrophy protomutation.

R. Korneluk, M. Mahadevan, C. Tsilfidis, 1993, Human molecular genetics.

The human ryanodine receptor gene: its mapping to 19q13.1, placement in a chromosome 19 linkage group, and exclusion as the gene causing myotonic dystrophy.

H. Willard, M. Phillips, B. Wieringa, 1990, American journal of human genetics.

Adenovirus‐Mediated Gene Transfer of Inhibitors of Apoptosis Proteins Delays Apoptosis in Cerebellar Granule Neurons

G. Robertson, T. Klockgether, R. Korneluk, 1999 .

Simpson-Golabi-Behmel syndrome: genotype/phenotype analysis of 18 affected males from 7 unrelated families.

D. Schlessinger, J. Tolmie, T. Grossman, 1996, American journal of medical genetics.

Simpson-Golabi-Behmel syndrome associated with renal dysplasia and embryonal tumor: localization of the gene to Xqcen-q21.

J. Allanson, A. Hunter, A. Mackenzie, 1992, American journal of medical genetics.

A small interstitial deletion in the GPC3 gene causes Simpson-Golabi-Behmel syndrome in a Dutch-Canadian family

A. Mackenzie, J. Xuan, R. Hughes-Benzie, 1999, Journal of medical genetics.

A reordering of human chromosome 19 long-arm DNA markers and identification of markers flanking the myotonic dystrophy locus.

Y. Nakamura, Y. Nakamura, A. Hunter, 1989, Genomics.

Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy

R. Korneluk, C. Tsilfidis, J. Barceló, 1992, Nature Genetics.

A comparison of the caffeine halothane muscle contracture test with the molecular genetic diagnosis of malignant hyperthermia.

R. Korneluk, D. Maclennan, R. Worton, 1991, Anesthesiology.

Mapping of Simpson-Golabi-Behmel syndrome to Xq25-q27.

A. Mackenzie, J. Xuan, M. Ireland, 1994, Human molecular genetics.

Myotonic dystrophy is closely linked to the gene for muscle-type creatine kinase (CKMM)

H. Smeets, H. Brunner, B. Wieringa, 1989, Human Genetics.

An insertion polymorphism identified by the probe pE0.8 (D19S115) at 19q13.3.

G. Shutler, R. Korneluk, C. Tsilfidis, 1991, Nucleic acids research.

Physical and genetic mapping of a novel chromosome 19 ERCC1 marker showing close linkage with myotonic dystrophy.

G. Shutler, P. de Jong, B. Wieringa, 1991, Genomics.

A chromosome 19 clone from a translocation breakpoint shows close linkage and linkage disequilibrium with myotonic dystrophy.

R. Korneluk, T. McKeithan, A. Mackenzie, 1989, Genomics.

Additive influence of maternal and offspring DM-kinase gene CTG repeat lengths in the genesis of congenital myotonic dystrophy.

R. Korneluk, C. Tsilfidis, M. Narang, 1994, American Journal of Human Genetics.

A711 A COMPARISON OP THE CAFFEINE HALOTHANE CONTRACTURE TEST WITH MOLECULAR GENETICS DIAGNOSIS OF MALIGNANT HYPERTHERMIA (MH)

R. Korneluk, D. Maclennan, R. Worton, 1990 .

False positive results from the alanine loading test for ornithine carbamoyltransferase deficiency heterozygosity.

R. Korneluk, H. Heick, A. Mackenzie, 1989, The Journal of pediatrics.