Similar articles for PMID: 12068375

Year	Number of Results
1988	1
1989	1
1991	1
1992	2
1996	6
1997	4
1998	4
1999	7
2000	7
2001	4
2002	3
2003	9
2004	4
2005	3
2006	2
2007	3
2008	5
2009	3
2010	1
2012	4
2013	8
2014	6
2015	6
2016	4
2017	4
2018	2
2019	2
2020	1
2021	1
2022	2
2024	0

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. 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

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. Am J Hum Genet. 1998 Aug;63(2):409-14. doi: 10.1086/301976. Am J Hum Genet. 1998. PMID: 9683607 Free PMC article.

3

cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression.

Zavadáková P, Fowler B, Suormala T, Novotna Z, Mueller P, Hennermann JB, Zeman J, Vilaseca MA, Vilarinho L, Gutsche S, Wilichowski E, Horneff G, Kozich V. Zavadáková P, et al. Hum Mutat. 2005 Mar;25(3):239-47. doi: 10.1002/humu.20131. Hum Mutat. 2005. PMID: 15714522

4

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. Hum Mol Genet. 1996 Dec;5(12):1867-74. doi: 10.1093/hmg/5.12.1867. Hum Mol Genet. 1996. PMID: 8968737

5

Effects of polymorphisms of methionine synthase and methionine synthase reductase on total plasma homocysteine in the NHLBI Family Heart Study.

Jacques PF, Bostom AG, Selhub J, Rich S, Ellison RC, Eckfeldt JH, Gravel RA, Rozen R; National Heart, Lung and Blood Institute, National Institutes of Health. Jacques PF, et al. Atherosclerosis. 2003 Jan;166(1):49-55. doi: 10.1016/s0021-9150(02)00204-6. Atherosclerosis. 2003. PMID: 12482550

6

Interaction between methionine synthase isoforms and MMACHC: characterization in cblG-variant, cblG and cblC inherited causes of megaloblastic anaemia.

Fofou-Caillierez MB, Mrabet NT, Chéry C, Dreumont N, Flayac J, Pupavac M, Paoli J, Alberto JM, Coelho D, Camadro JM, Feillet F, Watkins D, Fowler B, Rosenblatt DS, Guéant JL. Fofou-Caillierez MB, et al. Hum Mol Genet. 2013 Nov 15;22(22):4591-601. doi: 10.1093/hmg/ddt308. Epub 2013 Jul 3. Hum Mol Genet. 2013. PMID: 23825108

7

Functional methionine synthase deficiency (cblE and cblG): clinical and biochemical heterogeneity.

Watkins D, Rosenblatt DS. Watkins D, et al. Am J Med Genet. 1989 Nov;34(3):427-34. doi: 10.1002/ajmg.1320340320. Am J Med Genet. 1989. PMID: 2688421 Review.

8

Methionine synthase (MTR) 2756 (A --> G) polymorphism, double heterozygosity methionine synthase 2756 AG/methionine synthase reductase (MTRR) 66 AG, and elevated homocysteinemia are three risk factors for having a child with Down syndrome.

Bosco P, Guéant-Rodriguez RM, Anello G, Barone C, Namour F, Caraci F, Romano A, Romano C, Guéant JL. Bosco P, et al. Am J Med Genet A. 2003 Sep 1;121A(3):219-24. doi: 10.1002/ajmg.a.20234. Am J Med Genet A. 2003. PMID: 12923861

9

Methionine synthase deficiency: Variable clinical presentation and benefit of early diagnosis and treatment.

Kripps KA, Sremba L, Larson AA, Van Hove JLK, Nguyen H, Wright EL, Mirsky DM, Watkins D, Rosenblatt DS, Ketteridge D, Berry SA, McCandless SE, Baker PR 2nd. Kripps KA, et al. J Inherit Metab Dis. 2022 Mar;45(2):157-168. doi: 10.1002/jimd.12448. Epub 2021 Oct 21. J Inherit Metab Dis. 2022. PMID: 34625984

10

Functional methionine synthase deficiency due to cblG disorder: a report of two patients and a review.

Harding CO, Arnold G, Barness LA, Wolff JA, Rosenblatt DS. Harding CO, et al. Am J Med Genet. 1997 Sep 5;71(4):384-90. doi: 10.1002/(sici)1096-8628(19970905)71:4<384::aid-ajmg3>3.0.co;2-u. Am J Med Genet. 1997. PMID: 9286442 Review.

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