Guéant JL - Search Results

1

Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency.

Froese DS, Huemer M, Suormala T, Burda P, Coelho D, Guéant JL, Landolt MA, Kožich V, Fowler B, Baumgartner MR. Froese DS, et al. Among authors: gueant jl. Hum Mutat. 2016 May;37(5):427-38. doi: 10.1002/humu.22970. Epub 2016 Mar 18. Hum Mutat. 2016. PMID: 26872964

2

Low frequency of mutated methylenetetrahydrofolate reductase 677C-->T and 1298A-->C genetics single nucleotide polymorphisms (SNPs) in Sub-Saharan populations.

Adjalla CE, Amouzou EK, Sanni A, Abdelmouttaleb I, Chabi NW, Namour F, Soussou B, Guéant JL. Adjalla CE, et al. Among authors: gueant jl. Clin Chem Lab Med. 2003 Aug;41(8):1028-32. doi: 10.1515/CCLM.2003.158. Clin Chem Lab Med. 2003. PMID: 12964809

3

High prevalence of hyperhomocysteinemia related to folate deficiency and the 677C-->T mutation of the gene encoding methylenetetrahydrofolate reductase in coastal West Africa.

Amouzou EK, Chabi NW, Adjalla CE, Rodriguez-Guéant RM, Feillet F, Villaume C, Sanni A, Guéant JL. Amouzou EK, et al. Among authors: gueant jl. Am J Clin Nutr. 2004 Apr;79(4):619-24. doi: 10.1093/ajcn/79.4.619. Am J Clin Nutr. 2004. PMID: 15051606 Free article.

4

Life-threatening methylenetetrahydrofolate reductase (MTHFR) deficiency with extremely early onset: characterization of two novel mutations in compound heterozygous patients.

Forges T, Chery C, Audonnet S, Feillet F, Gueant JL. Forges T, et al. Among authors: gueant jl. Mol Genet Metab. 2010 Jun;100(2):143-8. doi: 10.1016/j.ymgme.2010.03.002. Epub 2010 Mar 6. Mol Genet Metab. 2010. PMID: 20356773

5

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. Among authors: gueant jl. 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

6

Nutritional models of foetal programming and nutrigenomic and epigenomic dysregulations of fatty acid metabolism in the liver and heart.

Guéant JL, Elakoum R, Ziegler O, Coelho D, Feigerlova E, Daval JL, Guéant-Rodriguez RM. Guéant JL, et al. Among authors: gueant rodriguez rm. Pflugers Arch. 2014 May;466(5):833-50. doi: 10.1007/s00424-013-1339-4. Epub 2013 Sep 3. Pflugers Arch. 2014. PMID: 23999818 Review.

7

[Vitamin B12 and related genetic disorders].

Guéant JL, Coelho D, Nicolas JP. Guéant JL, et al. Bull Acad Natl Med. 2014 Jun;198(6):1141-56. Bull Acad Natl Med. 2014. PMID: 26983191 French.

8

Genetic animal models to decipher the pathogenic effects of vitamin B12 and folate deficiency.

Peng L, Dreumont N, Coelho D, Guéant JL, Arnold C. Peng L, et al. Among authors: gueant jl. Biochimie. 2016 Jul;126:43-51. doi: 10.1016/j.biochi.2016.05.007. Epub 2016 May 10. Biochimie. 2016. PMID: 27178438 Review.

9

Methionine synthase and methionine synthase reductase interact with MMACHC and with MMADHC.

Bassila C, Ghemrawi R, Flayac J, Froese DS, Baumgartner MR, Guéant JL, Coelho D. Bassila C, et al. Among authors: gueant jl. Biochim Biophys Acta Mol Basis Dis. 2017 Jan;1863(1):103-112. doi: 10.1016/j.bbadis.2016.10.016. Epub 2016 Oct 19. Biochim Biophys Acta Mol Basis Dis. 2017. PMID: 27771510 Free article.

10

APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients.

Guéant JL, Chéry C, Oussalah A, Nadaf J, Coelho D, Josse T, Flayac J, Robert A, Koscinski I, Gastin I, Filhine-Tresarrieu P, Pupavac M, Brebner A, Watkins D, Pastinen T, Montpetit A, Hariri F, Tregouët D, Raby BA, Chung WK, Morange PE, Froese DS, Baumgartner MR, Benoist JF, Ficicioglu C, Marchand V, Motorin Y, Bonnemains C, Feillet F, Majewski J, Rosenblatt DS. Guéant JL, et al. Nat Commun. 2018 Jan 4;9(1):67. doi: 10.1038/s41467-017-02306-5. Nat Commun. 2018. PMID: 29302025 Free PMC article.

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