Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type
Lerner-Ellis, Jordan P, Atkinson, Janet L, Dunbar, Gail V, Morgan, Kenneth, Hosack, Angela R, Gravel, Roy A, Lepage, Pierre, Tirone, Jamie C, Fujiwara, T Mary, Doré, Carole, Forgetta, Vince, Pawelek, Peter D, Antonicka, Hana, Shoubridge, Eric A, Coulton, James W, Rosenblatt, David S, Watkins, David, Moras, Emily, Leclerc, Daniel, Morel, Chantal F, Rommens, Johanna M, Dobson, C Melissa
Published in Nature genetics (01.01.2006)
Published in Nature genetics (01.01.2006)
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Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype
Worgan, Lisa C., Niles, Kirsten, Tirone, Jamie C., Hofmann, Adam, Verner, Andrei, Sammak, Alya'a, Kucic, Terrence, Lepage, Pierre, Rosenblatt, David S.
Published in Human mutation (01.01.2006)
Published in Human mutation (01.01.2006)
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A Polymorphism (80G->A) in the Reduced Folate Carrier Gene and Its Associations with Folate Status and Homocysteinemia
Chango, Abalo, Emery-Fillon, Nathalie, de Courcy, Géneviève Potier, Lambert, Daniel, Pfister, Michèle, Rosenblatt, David S., Nicolas, Jean-Pierre
Published in Molecular genetics and metabolism (01.08.2000)
Published in Molecular genetics and metabolism (01.08.2000)
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Identification of the gene responsible for the cblA complementation group of vitamin B 12 -responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements
Dobson, C. Melissa, Wai, Timothy, Leclerc, Daniel, Wilson, Aaron, Wu, Xuchu, Doré, Carole, Hudson, Thomas, Rosenblatt, David S., Gravel, Roy A.
Published in Proceedings of the National Academy of Sciences - PNAS (26.11.2002)
Published in Proceedings of the National Academy of Sciences - PNAS (26.11.2002)
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Cloning and Mapping of a cDNA for Methionine Synthase Reductase, a Flavoprotein Defective in Patients with Homocystinuria
Leclerc, D., Wilson, A., Dumas, R., Gafuik, C., Song, D., Watkins, D., Heng, H. H. Q., Rommens, J. M., Scherer, S. W., Rosenblatt, D. S., Gravel, R. A.
Published in Proceedings of the National Academy of Sciences - PNAS (17.03.1998)
Published in Proceedings of the National Academy of Sciences - PNAS (17.03.1998)
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Human Methionine Synthase: cDNA Cloning and Identification of Mutations in Patients of the cblG Complementation Group of Folate/Cobalamin Disorders
Leclerc, D., Campeau, E., Goyette, P., Adjalla, C. E., Christensen, B., Ross, M., Eydoux, P., Rosenblatt, D. S., Rozen, R., Gravel, R. A.
Published in Human molecular genetics (01.12.1996)
Published in Human molecular genetics (01.12.1996)
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Late-onset thrombocytic microangiopathy caused by cblC disease: association with a factor H mutation
Guigonis, Vincent, Frémeaux-Bacchi, Véronique, Giraudier, Stéphane, Favier, Rémi, Borderie, Didier, Massy, Ziad, Mougenot, Béatrice, Rosenblatt, David S, Deschênes, Georges
Published in American journal of kidney diseases (01.03.2005)
Published in American journal of kidney diseases (01.03.2005)
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The effect of 677C → T and 1298A → C mutations on plasma homocysteine and 5,10-methylenetetrahydrofolate reductase activity in healthy subjects
Chango, A., Chango, A., Boisson, F., Barbé, F., Quilliot, D., Droesch, S., Pfister, M., Fillon-Emery, N., Lambert, D., Frémont, S., Rosenblatt, D. S., Nicolas, J. P.
Published in British journal of nutrition (01.06.2000)
Published in British journal of nutrition (01.06.2000)
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Correlation of a Common Mutation in the Methylenetetrahydrofolate Reductase Gene With Plasma Homocysteine in Patients With Premature Coronary Artery Disease
Christensen, Benedicte, Frosst, Phyllis, Lussier-Cacan, Suzanne, Selhub, Jacob, Goyette, Philippe, Rosenblatt, David S, Genest, Jacques Jr, Rozen, Rima
Published in Arteriosclerosis, thrombosis, and vascular biology (01.03.1997)
Published in Arteriosclerosis, thrombosis, and vascular biology (01.03.1997)
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Homocysteine concentrations in adults with trisomy 21: effect of B vitamins and genetic polymorphisms
Fillon-Emery, N, Chango, A, Mircher, C, Barbe, F, Blehaut, H, Herbeth, B, Rosenblatt, D.S, Rethore, M.O, Lambert, D, Nicolas, J.P
Published in The American journal of clinical nutrition (01.12.2004)
Published in The American journal of clinical nutrition (01.12.2004)
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Hyperhomocysteinemia Due to Methionine Synthase Deficiency, cblG: Structure of the MTR Gene, Genotype Diversity, and Recognition of a Common Mutation, P1173L
Watkins, David, Ru, Ming, Hwang, Hye-Yeon, Kim, Caroline D., Murray, Angus, Philip, Noah S., Kim, William, Legakis, Helen, Wai, Timothy, Hilton, John F., Ge, Bing, Doré, Carole, Hosack, Angela, Wilson, Aaron, Gravel, Roy A., Shane, Barry, Hudson, Thomas J., Rosenblatt, David S.
Published in American journal of human genetics (01.07.2002)
Published in American journal of human genetics (01.07.2002)
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Glycine N‐methyltransferase deficiency: A novel inborn error causing persistent isolated hypermethioninaemia
Mudd, S. H., Cerone, R., Schiaffino, M. C., Fantasia, A. R., Minniti, G., Caruso, U., Lorini, R., Watkins, D., Matiaszuk, N., Rosenblatt, D. S., Schwahn, B., Rozen, R., LeGros, L., Kotb, M., Capdevila, A., Luka, Z., Finkelstein, J. D., Tangerman, A., Stabler, S. P., Allen, R. H., Wagner, C.
Published in Journal of inherited metabolic disease (01.07.2001)
Published in Journal of inherited metabolic disease (01.07.2001)
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Characterization of mutations in severe methylenetetrahydrofolate reductase deficiency reveals an FAD-responsive mutation
Sibani, Sahar, Leclerc, Daniel, Weisberg, Ilan S., O'Ferrall, Erin, Watkins, David, Artigas, Carmen, Rosenblatt, David S., Rozen, Rima
Published in Human mutation (01.05.2003)
Published in Human mutation (01.05.2003)
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