Primary hyperoxaluria type 1: update and additional mutation analysis of theAGXTgene
Human Mutation
Emma L. Williams and Cecile Acquaviva and Antonio Amoroso and Francoise Chevalier and Marion Coulter-Mackie and Carla G. Monico and Daniela Giachino and Tricia Owen and Angela Robbiano and Eduardo Salido and Hans Waterham and Gill Rumsby
DOI: 10.1002/humu.21021
06/2009

Partial trypsin digestion as an indicator of mis-folding of mutant alanine:glyoxylate aminotransferase and chaperone effects of specific ligands. Study of a spectrum of missense mutants
Molecular Genetics and Metabolism
M.B. Coulter-Mackie and Q. Lian
DOI: 10.1016/j.ymgme.2008.03.010
07/2008

Mutation-based diagnostic testing for primary hyperoxaluria type 1: Survey of results
Clinical Biochemistry
Marion B. Coulter-Mackie and Qun Lian and Derek A. Applegarth and Jennifer Toone and Paula J. Waters and Hilary Vallance
DOI: 10.1016/j.clinbiochem.2008.01.018
05/2008

4-Hydroxyproline metabolism and glyoxylate production: A target for substrate depletion in primary hyperoxaluria?
Kidney International
M.B. Coulter-Mackie
DOI: 10.1038/sj.ki.5001987
2006

Consequences of missense mutations for dimerization and turnover of alanine:glyoxylate aminotransferase: Study of a spectrum of mutations
Molecular Genetics and Metabolism
Coulter-Mackie, M.B. and Lian, Q.
DOI: 10.1016/j.ymgme.2006.07.013
2006

Common HEXB polymorphisms reduce serum HexA and HexB enzymatic activities, potentially masking Tay-Sachs disease carrier identification
Molecular Genetics and Metabolism
Vallance, H. and Morris, T.J. and Coulter-Mackie, M. and Lim-Steele, J. and Kaback, M.
DOI: 10.1016/j.ymgme.2005.10.012
2006

The major allele of the alanine:glyoxylate aminotransferase gene: Nine novel mutations and polymorphisms associated with primary hyperoxaluria type 1
Molecular Genetics and Metabolism
Marion B. Coulter-Mackie and Qun Lian and Derek Applegarth and Jennifer Toone
DOI: 10.1016/j.ymgme.2005.05.005
09/2005

Overexpression of human alanine:glyoxylate aminotransferase in Escherichia coli: renaturation from guanidine–HCl and affinity for pyridoxal phosphate co-factor
Protein Expression and Purification
Marion B. Coulter-Mackie and Qun Lian and Steve G. Wong
DOI: 10.1016/j.pep.2004.11.004
05/2005

Preliminary Evidence for Ethnic Differences in Primary Hyperoxaluria Type 1 Genotype
American Journal of Nephrology
Marion B. Coulter-Mackie
DOI: 10.1159/000086356
2005

Genetic heterogeneity in primary hyperoxaluria type 1: impact on diagnosis
Molecular Genetics and Metabolism
Marion B. Coulter-Mackie and Gill Rumsby
DOI: 10.1016/j.ymgme.2004.08.009
09/2004

Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias
Kidney International
DOI: 10.1111/j.1523-1755.2004.00842.x
09/2004

The major allele of the alanine:glyoxylate aminotransferase gene: seven novel mutations causing primary hyperoxaluria type 1
Molecular Genetics and Metabolism
M Coulter-Mackie
DOI: 10.1016/j.ymgme.2004.02.001
05/2004

Molecular genetic and potential biochemical characteristics of patients with T-protein deficiency as a cause of glycine encephalopathy (NKH)
Molecular Genetics and Metabolism
Jennifer R Toone and Derek A Applegarth and Harvey L Levy and Marion B Coulter-Mackie and Gary Lee
DOI: 10.1016/s1096-7192(03)00115-x
08/2003

Spectrum of mutations in the arylsulfatase A gene in a Canadian DNA collection including two novel frameshift mutations, a new missense mutation (C488R) and an MLD mutation (R84Q) in cis with a pseudodeficiency allele
Molecular Genetics and Metabolism
M Coulter-Mackie
DOI: 10.1016/s1096-7192(03)00077-5
06/2003

The AGT gene in Africa: a distinctive minor allele haplotype, a polymorphism (V326I), and a novel PH1 mutation (A112D) in black Africans
Molecular Genetics and Metabolism
Marion B Coulter-Mackie and Andrew Tung and Howard E Henderson and Jennifer R Toone and Derek A Applegarth
DOI: 10.1016/s1096-7192(02)00204-4
01/2003

Molecular genetic and potential biochemical characteristics of patients with T-protein deficiency as a cause of glycine encephalopathy (NKH)
Molecular Genetics and Metabolism
Toone, J.R. and Applegarth, D.A. and Levy, H.L. and Coulter-Mackie, M.B. and Lee, G.
DOI: 10.1016/S1096-7192(03)00115-X
2003

Spectrum of mutations in the arylsulfatase A gene in a Canadian DNA collection including two novel frameshift mutations, a new missense mutation (C488R) and an MLD mutation (R84Q) in cis with a pseudodeficiency allele
Molecular Genetics and Metabolism
Coulter-Mackie, M.B. and Gagnier, L.
DOI: 10.1016/S1096-7192(03)00077-5
2003

The AGT gene in Africa: A distinctive minor allele haplotype, a polymorphism (V326I), and a novel PH1 mutation (A112D) in black Africans
Molecular Genetics and Metabolism
Coulter-Mackie, M.B. and Tung, A. and Henderson, H.E. and Toone, J.R. and Applegarth, D.A.
DOI: 10.1016/S1096-7192(02)00204-4
2003

Novel mutations in the P-protein (glycine decarboxylase) gene in patients with glycine encephalopathy (non-ketotic hyperglycinemia)
Molecular Genetics and Metabolism
Jennifer R. Toone and Derek A. Applegarth and Shigeo Kure and Marion B. Coulter-Mackie and Payam Sazegar and Kanako Kojima and Akiko Ichinohe
DOI: 10.1016/s1096-7192(02)00041-0
07/2002

Molecular prenatal diagnosis of non-ketotic hyperglycinemia (glycine encephalopathy)
Prenatal Diagnosis
Derek A. Applegarth and Marie-Odile Rolland and Jennifer R. Toone and Marion Coulter-Mackie and Robert Saura
DOI: 10.1002/pd.293
2002

Novel mutations in the P-protein (glycine decarboxylase) gene in patients with glycine encephalopathy (non-ketotic hyperglycinemia)
Molecular Genetics and Metabolism
Toone, J.R. and Applegarth, D.A. and Kure, S. and Coulter-Mackie, M.B. and Sazegar, P. and Kojima, K. and Ichinohe, A.
DOI: 10.1016/S1096-7192(02)00041-0
2002

Isolated peripheral neuropathy in atypical metachromatic leukodystrophy: A recurrent mutation
Canadian Journal of Neurological Sciences
Coulter-Mackie, M.B. and Applegarth, D.A. and Toone, J.R. and Gagnier, L. and Anzarut, A.R. and Hendson, G.
2002

Three Novel Deletions in the Alanine:Glyoxylate Aminotransferase Gene of Three Patients with Type 1 Hyperoxaluria
Molecular Genetics and Metabolism
Marion B. Coulter-Mackie and Gillian Rumsby and Derek A. Applegarth and Jennifer R. Toone
DOI: 10.1006/mgme.2001.3222
11/2001

Multiple metachromatic leucodystrophy alleles in an unaffected subject: a case of dispermic chimaerism
Journal of Medical Genetics
M B Coulter-Mackie
DOI: 10.1136/jmg.38.5.e15
05/2001

Recurrent Mutations in P- and T-Proteins of the Glycine Cleavage Complex and a Novel T-Protein Mutation (N145I): A Strategy for the Molecular Investigation of Patients with Nonketotic Hyperglycinemia (NKH)
Molecular Genetics and Metabolism
Jennifer R. Toone and Derek A. Applegarth and Marion B. Coulter-Mackie and Erick R. James
DOI: 10.1006/mgme.2001.3158
04/2001

Multiple metachromatic leucodystrophy alleles in an unaffected subject: a case of dispermic chimaerism.
Journal of medical genetics
Coulter-Mackie, M.B. and Rip, J. and Beis, M.J. and Ferreira, P. and Ludman, M.D.
2001

Identification of the first reported splice site mutation (IVS7-1G-->A) in the aminomethyltransferase (T-protein) gene (AMT) of the glycine cleavage complex in 3 unrelated families with nonketotic hyperglycinemia.
Human mutation
Toone, J.R. and Applegarth, D.A. and Coulter-Mackie, M.B. and James, E.R.
DOI: 10.1002/1098-1004(2001)17:13.0.CO;2-0
2001

Variable onset of metachromatic leukodystrophy in a Vietnamese family
Pediatric Neurology
Laura T Arbour and Kenneth Silver and Peter Hechtman and Eileen P Treacy and Marion B Coulter-Mackie
DOI: 10.1016/s0887-8994(00)00164-8
08/2000

Biochemical and Molecular Investigations of Patients with Nonketotic Hyperglycinemia
Molecular Genetics and Metabolism
Jennifer R. Toone and Derek A. Applegarth and Marion B. Coulter-Mackie and Erick R. James
DOI: 10.1006/mgme.2000.3000
06/2000

Identification of the first reported splice site mutation (IVS7-1G?A) in the aminomethyltransferase (T-protein) gene (AMT) of the glycine cleavage complex in 3 unrelated families with nonketotic hyperglycinemia
Human Mutation
Jennifer R. Toone and Derek A. Applegarth and Marion B. Coulter-Mackie and Erick R. James
DOI: 10.1002/1098-1004(2001)17:13.0.co;2-0
2000

Variable onset of metachromatic leukodystrophy in a Vietnamese family
Pediatric Neurology
Arbour, L.T. and Silver, K. and Hechtman, P. and Treacy, E.P. and Coulter-Mackie, M.B.
DOI: 10.1016/S0887-8994(00)00164-8
2000

Identification of 6 new mutations in the iduronate sulfatase gene
Human Mutation
Hilary D. Vallance and Lynn Bernard and Michael Rashed and Doris Chiu and Grace Le and Jenny Toone and Derek A. Applegarth and Marion Coulter-Mackie
DOI: 10.1002/(sici)1098-1004(1999)13:43.0.co;2-3
1999

A novel exonic mutation in the aspartylglucosaminidase gene causes exon skipping
Journal of Inherited Metabolic Disease
Coulter-Mackie, M.B.
DOI: 10.1023/A:1005563004678
1999

Identification of 6 new mutations in the iduronate sulfatase gene. Mutation in brief no. 233. Online.
Human mutation
Vallance, H.D. and Bernard, L. and Rashed, M. and Chiu, D. and Le, G. and Toone, J. and Applegarth, D.A. and Coulter-Mackie, M.
DOI: 10.1002/(SICI)1098-1004(1999)13:43.0.CO;2-3
1999

A protocol for detection of mitochondrial DNA deletions: characterization of a novel deletion
Clinical Biochemistry
Marion B Coulter-Mackie and Derek A Applegarth and Jennifer R Toone and Liane Gagnier
DOI: 10.1016/s0009-9120(98)00074-5
11/1998

Two novel mutations in the arylsulfatase A gene associated with juvenile (R390Q) and adult onset (H397Y) metachromatic leukodystrophy
Human Mutation
Marion B. Coulter-Mackie and Liane Gagnier
DOI: 10.1002/humu.1380110181
1998

A protocol for detection of mitochondrial DNA deletions: Characterization of a novel deletion
Clinical Biochemistry
Coulter-Mackie, M.B. and Applegarth, D.A. and Toone, J.R. and Gagnier, L.
DOI: 10.1016/S0009-9120(98)00074-5
1998

Aspartylglucosaminuria in a Canadian family
Clinical and Investigative Medicine
Gordon, B.A. and Rupar, C.A. and Rip, J.W. and Haust, M.D. and Coulter-Mackie, M.B. and Scott, E. and Hinton, G.G.
1998

Two new polymorphisms in the arylsulfatase A gene and their haplotype associations with normal, metachromatic leukodystrophy and pseudodeficiency alleles
American Journal of Medical Genetics
Marion Coulter-Mackie and Liane Gagnier
DOI: 10.1002/(sici)1096-8628(19971128)73:13.0.co;2-r
11/1997

Metachromatic leucodystrophy in three families from Nova Scotia, Canada: a recurring mutation in the arylsulphatase A gene.
Journal of Medical Genetics
M B Coulter-Mackie and L Gagnier and M J Beis and D A Applegarth and D E Cole and K Gordon and M D Ludman
DOI: 10.1136/jmg.34.6.493
06/1997

DNA-based diagnosis of arylsulfatase A deficiencies as a supplement to enzyme assay: A case in point
Clinical Biochemistry
Marion B. Coulter-Mackie and Derek A. Applegarth and Jennifer Toone and Hilary Vallance
DOI: 10.1016/s0009-9120(96)00124-5
02/1997

A five-basepair deletion (7118 delTTTTA) identified within neurofibromatosis NF1 exon 39
Human Mutation
David I. Rodenhiser and Jack H. Jung and Jane M.R. Gillet and Ken Hovland and Joseph Andrews and Peter J. Ainsworth and Marion Coulter-MAckie and Shiva M. Singh
DOI: 10.1002/(sici)1098-1004(1997)9:53.3.co;2-h
1997

Two new polymorphisms in the arylsulfatase a gene and their haplotype associations with normal, metachromatic leukodystrophy and pseudodeficiency alleles
American Journal of Medical Genetics
Coulter-Mackie, M. and Gagnier, L.
DOI: 10.1002/(SICI)1096-8628(19971128)73:13.0.CO;2-R
1997

DNA-based diagnosis of arylsulfatase a deficiencies as a supplement to enzyme assay: A case in point
Clinical Biochemistry
Coulter-Mackie, M.B. and Applegarth, D.A. and Toone, J. and Vallance, H.
DOI: 10.1016/S0009-9120(96)00124-5
1997

Metachromatic leucodystrophy (MLD) in a patient with a constitutional ring chromosome 22
Journal of Medical Genetics
M B Coulter-Mackie and J Rip and M D Ludman and J Beis and D E C Cole
DOI: 10.1136/jmg.32.10.787
10/1995

Molecular characterization of both alleles in an unusual Tay-Sachs disease B1 variant [3]
American Journal of Human Genetics
Coulter-Mackie, M.B.
1994

Single-base sequencing for rapid screening of plasmids for inserts with known mutations and correct orientation
BioTechniques
Coulter-Mackie, M.B.
1994

A genetic study of neurofibromatosis type 1 (NF1) in south-western Ontario. II. A PCR based approach to molecular and prenatal diagnosis using linkage.
Journal of Medical Genetics
D I Rodenhiser and P J Ainsworth and M B Coulter-Mackie and S M Singh and J H Jung
DOI: 10.1136/jmg.30.5.363
05/1993

Evidence of DNA methylation in the neurofibromatosis type 1 (NF1) gene region of 17q11.2
Human Molecular Genetics
David I. Rodenhiser and Marion B. Coulter-Mackie and Shiva M. Singh
DOI: 10.1093/hmg/2.4.439
1993

A genetic study of neurofibromatosis type 1 (NF1) in south-western Ontario. II A PCR based approach to molecular and prenatal diagnosis using linkage
Journal of Medical Genetics
Rodenhiser, D.I. and Ainsworth, P.J. and Coulter-Mackie, M.B. and Singh, S.M. and Jung, J.H.
1993

Purification and structure of human liver aspartylglucosaminidase
Biochemical Journal
J W Rip and M B Coulter-Mackie and C A Rupar and B A Gordon
DOI: 10.1042/bj2881005
1992

A double mutation in exon 6 of the ß-hexosaminidase a subunit in a patient with the B1 variant of Tay-Sachs disease
American Journal of Human Genetics
Ainsworth, P.J. and Coulter-Mackie, M.B.
1992

A genetic study of neurofibromatosis 1 in south-western Ontario. I. Population, familial segregation of phenotype, and molecular linkage.
Journal of Medical Genetics
D I Rodenhiser and M B Coulter-Mackie and J H Jung and S M Singh
DOI: 10.1136/jmg.28.11.746
11/1991

A method for transforming lymphocytes from very small blood volumes suitable for paediatric samples
Human Genetics
J. Elliott and M.B. Coulter-Mackie and J.H. Jung and D.I. Rodenhiser and S.M. Singh
DOI: 10.1007/bf00201551
04/1991

Diagnostic single strand conformational polymorphism, (SSCP): a simplified non-radioisotopic method as applied to a Tay-Sachs B1 variant
Nucleic Acids Research
P.J. Ainsworth and L.C. Surh and M.B. Coulter-Mackie
DOI: 10.1093/nar/19.2.405
1991

A method for transforming lymphocytes from very small blood volumes suitable for paediatric samples
Human Genetics
Elliott, J. and Coulter-Mackie, M.B. and Jung, J.H. and Rodenhiser, D.I. and Singh, S.M.
DOI: 10.1007/BF00201551
1991

In vivo and in vitro models of demyelinating diseases
Virus Research
Marion Coulter-Mackie and Richard Adler and Greame Wilson and Samuel Dales
DOI: 10.1016/0168-1702(85)90049-8
10/1985

In vivo and in vitro models of demyelinating disease X. A Schwannoma-L-2 somatic cell hybrid persistently yielding high titres of mouse hepatitis virus strain JHM
Virus Research
M.B. Coulter-Mackie and W.F. Flintoff and S. Dales
DOI: 10.1016/0168-1702(84)90005-4
09/1984

In vivo and in vitro models of demyelinating disease IX. Progression of JHM virus infection in the central nervous system of the rat during overt and asymptomatic phases
Virology
O. Sorensen and M.B. Coulter-Mackie and S. Puchalski and S. Dales
DOI: 10.1016/0042-6822(84)90227-7
09/1984

In Vivo and In Vitro Models of Demyelinating Diseases — VIII: Genetic, Immunologic and Cellular Influences on JHM Virus Infection of Rats
Molecular Biology and Pathogenesis of Coronaviruses
O. Sorensen and S. Beushausen and S. Puchalski and S. Cheley and R. Anderson and M. Coulter-Mackie and S. Dales
DOI: 10.1007/978-1-4615-9373-7_29
1984

Measles virus encephalitis and retinopathy in the Wistar rat
Experimental and Molecular Pathology
D.H. Percy and M. Coulter-Mackie
DOI: 10.1016/0014-4800(82)90072-7
06/1982

In vivo and in vitro Models of Demyelinating Diseases
Intervirology
Andrew Massalski and Marion Coulter-Mackie and Robert L. Knobler and Michael J. Buchmeier and Samuel Dales
DOI: 10.1159/000149316
1982

In Vivo and in Vitro Models of Demyelinating Diseases
Biochemistry and Biology of Coronaviruses
Ole Sorensen and Marion Coulter-Mackie and Dean Percy and Samuel Dales
DOI: 10.1007/978-1-4757-0456-3_22
1981

Assembly of mouse hepatitis virus strain JHM.
Advances in Experimental Medicine and Biology
Massalski, A. and Coulter-Mackie, M. and Dales, S.
1981

Assembly of Mouse Hepatitis Virus Strain JHM
Biochemistry and Biology of Coronaviruses
Andrew Massalski and Marion Coulter-Mackie and Samuel Dales
DOI: 10.1007/978-1-4757-0456-3_9
1981

In vivo and in vitro models of demyelinating diseases IV. Isolation of Hallé measles virus-specific RNA from BGMK cells and preparation of complementary DNA
Virology
Marion B. Coulter-Mackie and Wayne C. Bradbury and Samuel Dales and Wayne F. Flintoff and Vincent L. Morris
DOI: 10.1016/0042-6822(80)90100-2
04/1980

The noncoordinate expression of muscle-specific proteins in mutant rat skeletal myoblasts and reinitiation of differentiation in hybrids
Somatic Cell Genetics
Jackilynn Rogers and Marion Coulter and S. K. Ng and B. D. Sanwal
DOI: 10.1007/bf01542927
09/1978

In vivo and in vitro models of demyelinating diseases II. Persistence and host-regulated thermosensitivity in cells of neural derivation infected with mouse hepatitis and measles viruses
Virology
Alexandra Lucas and Marion Coulter and Robert Anderson and Samuel Dales and Wayne Flintoff
DOI: 10.1016/0042-6822(78)90289-1
07/1978

The noncoordinate expression of muscle-specific proteins in mutant rat skeletal myoblasts and reinitiation of differentiation in hybrids
Somatic Cell Genetics
DOI: 10.1007/BF01542927
1978

In vivo and in vitro models of demyelinating diseases: Tropism of the JHM strain of murine hepatitis virus for cells of glial origin
Cell
DOI: 10.1016/0092-8674(77)90131-3
1977

Apparent dominance of serine auxotrophy and the absence of expression of muscle-specific proteins in rat myoblast ¿ mouse L-cell hybrids
Somatic Cell Genetics
M. J. P. Dufresne and Jackilynn Rogers and Marion B. Coulter and Eric Ball and Theodore Lo and B. D. Sanwal
DOI: 10.1007/bf01542689
11/1976

Apparent dominance of serine auxotrophy and the absence of expression of muscle-specific proteins in rat myoblast × mouse L-cell hybrids
Somatic Cell Genetics
DOI: 10.1007/BF01542689
1976

Inhibition of myogenesis in a rat myoblast line by 5-bromodeoxyuridine
Nature
JACKILYNN ROGERS and STEPHEN K. C. NG and MARION B. COULTER and B. D. SANWAL
DOI: 10.1038/256438a0
07/1975

In vitro synthesis and detection of deoxyribonucleic acids with covalently linked complementary sequences
Biochemistry
Marion Coulter and Wayne Flintoff and Verner Paetkau and David Pulleyblank and A. Richard Morgan
DOI: 10.1021/bi00705a008
04/1974

Enzymic synthesis of deoxyribonucleic acids with repeating sequences. New repeating trinucleotide deoxyribonucleic acid, d(T-C-C)n·d(G-G-A)n
Biochemistry
A. Richard Morgan and Marion B. Coulter and Wayne F. Flintoff and Verner H. Paetkau
DOI: 10.1021/bi00705a007
04/1974

Thymine · guanine base pairing during transcription of polydeoxypyrimidines in vitro
Journal of Molecular Biology
Verner Paetkau and Marion B. Coulter and Wayne F. Flintoff and A.Richard Morgan
DOI: 10.1016/0022-2836(72)90352-x
11/1972

Thymine · guanine base pairing during transcription of polydeoxypyrimidines in vitro
Journal of Molecular Biology
DOI: 10.1016/0022-2836(72)90352-X
1972