Gravel RA - Search Results

1

Hyperhomocysteinemia due to methionine synthase deficiency, cblG: structure of the MTR gene, genotype diversity, and recognition of a common mutation, P1173L.

Watkins D, Ru M, Hwang HY, Kim CD, Murray A, Philip NS, Kim W, Legakis H, Wai T, Hilton JF, Ge B, Doré C, Hosack A, Wilson A, Gravel RA, Shane B, Hudson TJ, Rosenblatt DS. Watkins D, et al. Among authors: gravel ra. Am J Hum Genet. 2002 Jul;71(1):143-53. doi: 10.1086/341354. Epub 2002 May 30. Am J Hum Genet. 2002. PMID: 12068375 Free PMC article.

2

Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism.

Lerner-Ellis JP, Dobson CM, Wai T, Watkins D, Tirone JC, Leclerc D, Doré C, Lepage P, Gravel RA, Rosenblatt DS. Lerner-Ellis JP, et al. Among authors: gravel ra. Hum Mutat. 2004 Dec;24(6):509-16. doi: 10.1002/humu.20104. Hum Mutat. 2004. PMID: 15523652

3

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 CE, Christensen B, Ross M, Eydoux P, Rosenblatt DS, Rozen R, Gravel RA. Leclerc D, et al. Among authors: gravel ra. Hum Mol Genet. 1996 Dec;5(12):1867-74. doi: 10.1093/hmg/5.12.1867. Hum Mol Genet. 1996. PMID: 8968737

4

Functionally null mutations in patients with the cblG-variant form of methionine synthase deficiency.

Wilson A, Leclerc D, Saberi F, Campeau E, Hwang HY, Shane B, Phillips JA 3rd, Rosenblatt DS, Gravel RA. Wilson A, et al. Among authors: gravel ra. Am J Hum Genet. 1998 Aug;63(2):409-14. doi: 10.1086/301976. Am J Hum Genet. 1998. PMID: 9683607 Free PMC article.

5

Molecular basis for methionine synthase reductase deficiency in patients belonging to the cblE complementation group of disorders in folate/cobalamin metabolism.

Wilson A, Leclerc D, Rosenblatt DS, Gravel RA. Wilson A, et al. Among authors: gravel ra. Hum Mol Genet. 1999 Oct;8(11):2009-16. doi: 10.1093/hmg/8.11.2009. Hum Mol Genet. 1999. PMID: 10484769

6

Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria.

Dobson CM, Wai T, Leclerc D, Kadir H, Narang M, Lerner-Ellis JP, Hudson TJ, Rosenblatt DS, Gravel RA. Dobson CM, et al. Among authors: gravel ra. Hum Mol Genet. 2002 Dec 15;11(26):3361-9. doi: 10.1093/hmg/11.26.3361. Hum Mol Genet. 2002. PMID: 12471062

7

Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.

Lerner-Ellis JP, Tirone JC, Pawelek PD, Doré C, Atkinson JL, Watkins D, Morel CF, Fujiwara TM, Moras E, Hosack AR, Dunbar GV, Antonicka H, Forgetta V, Dobson CM, Leclerc D, Gravel RA, Shoubridge EA, Coulton JW, Lepage P, Rommens JM, Morgan K, Rosenblatt DS. Lerner-Ellis JP, et al. Among authors: gravel ra. Nat Genet. 2006 Jan;38(1):93-100. doi: 10.1038/ng1683. Epub 2005 Nov 27. Nat Genet. 2006. PMID: 16311595

8

Mutation and biochemical analysis of patients belonging to the cblB complementation class of vitamin B12-dependent methylmalonic aciduria.

Lerner-Ellis JP, Gradinger AB, Watkins D, Tirone JC, Villeneuve A, Dobson CM, Montpetit A, Lepage P, Gravel RA, Rosenblatt DS. Lerner-Ellis JP, et al. Among authors: gravel ra. Mol Genet Metab. 2006 Mar;87(3):219-25. doi: 10.1016/j.ymgme.2005.11.011. Epub 2006 Jan 10. Mol Genet Metab. 2006. PMID: 16410054

9

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 HH, Rommens JM, Scherer SW, Rosenblatt DS, Gravel RA. Leclerc D, et al. Among authors: gravel ra. Proc Natl Acad Sci U S A. 1998 Mar 17;95(6):3059-64. doi: 10.1073/pnas.95.6.3059. Proc Natl Acad Sci U S A. 1998. PMID: 9501215 Free PMC article.

10

Genetic polymorphisms in methylenetetrahydrofolate reductase and methionine synthase, folate levels in red blood cells, and risk of neural tube defects.

Christensen B, Arbour L, Tran P, Leclerc D, Sabbaghian N, Platt R, Gilfix BM, Rosenblatt DS, Gravel RA, Forbes P, Rozen R. Christensen B, et al. Among authors: gravel ra. Am J Med Genet. 1999 May 21;84(2):151-7. doi: 10.1002/(sici)1096-8628(19990521)84:2<151::aid-ajmg12>3.0.co;2-t. Am J Med Genet. 1999. PMID: 10323741

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