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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: chery c. 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
Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness.
Jeannesson-Thivisol E, Feillet F, Chéry C, Perrin P, Battaglia-Hsu SF, Herbeth B, Cano A, Barth M, Fouilhoux A, Mention K, Labarthe F, Arnoux JB, Maillot F, Lenaerts C, Dumesnil C, Wagner K, Terral D, Broué P, de Parscau L, Gay C, Kuster A, Bédu A, Besson G, Lamireau D, Odent S, Masurel A, Guéant JL, Namour F. Jeannesson-Thivisol E, et al. Among authors: chery c. Orphanet J Rare Dis. 2015 Dec 15;10:158. doi: 10.1186/s13023-015-0375-x. Orphanet J Rare Dis. 2015. PMID: 26666653 Free PMC article.
Mutations in MTHFR and POLG impaired activity of the mitochondrial respiratory chain in 46-year-old twins with spastic paraparesis.
Wiedemann A, Chery C, Coelho D, Flayac J, Gueguen N, Desquiret-Dumas V, Feillet F, Lavigne C, Neau JP, Fowler B, Baumgartner MR, Reynier P, Guéant JL, Oussalah A. Wiedemann A, et al. Among authors: chery c. J Hum Genet. 2020 Jan;65(2):91-98. doi: 10.1038/s10038-019-0689-y. Epub 2019 Oct 23. J Hum Genet. 2020. PMID: 31645654 Review.
Population and evolutionary genetics of the PAH locus to uncover overdominance and adaptive mechanisms in phenylketonuria: Results from a multiethnic study.
Oussalah A, Jeannesson-Thivisol E, Chéry C, Perrin P, Rouyer P, Josse T, Cano A, Barth M, Fouilhoux A, Mention K, Labarthe F, Arnoux JB, Maillot F, Lenaerts C, Dumesnil C, Wagner K, Terral D, Broué P, De Parscau L, Gay C, Kuster A, Bédu A, Besson G, Lamireau D, Odent S, Masurel A, Rodriguez-Guéant RM, Feillet F, Guéant JL, Namour F. Oussalah A, et al. Among authors: chery c. EBioMedicine. 2020 Jan;51:102623. doi: 10.1016/j.ebiom.2019.102623. Epub 2020 Jan 7. EBioMedicine. 2020. PMID: 31923802 Free PMC article.
Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B12.
Oussalah A, Siblini Y, Hergalant S, Chéry C, Rouyer P, Cavicchi C, Guerrini R, Morange PE, Trégouët D, Pupavac M, Watkins D, Pastinen T, Chung WK, Ficicioglu C, Feillet F, Froese DS, Baumgartner MR, Benoist JF, Majewski J, Morrone A, Rosenblatt DS, Guéant JL. Oussalah A, et al. Among authors: chery c. Clin Epigenetics. 2022 Apr 19;14(1):52. doi: 10.1186/s13148-022-01271-1. Clin Epigenetics. 2022. PMID: 35440018 Free PMC article.
67 results