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WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation.
Mignot C, Lambert L, Pasquier L, Bienvenu T, Delahaye-Duriez A, Keren B, Lefranc J, Saunier A, Allou L, Roth V, Valduga M, Moustaïne A, Auvin S, Barrey C, Chantot-Bastaraud S, Lebrun N, Moutard ML, Nougues MC, Vermersch AI, Héron B, Pipiras E, Héron D, Olivier-Faivre L, Guéant JL, Jonveaux P, Philippe C. Mignot C, et al. Among authors: gueant jl. J Med Genet. 2015 Jan;52(1):61-70. doi: 10.1136/jmedgenet-2014-102748. Epub 2014 Nov 19. J Med Genet. 2015. PMID: 25411445
Cystathionine β-synthase genetic variant rs2124459 is associated with a reduced risk of cleft palate in French and Belgian populations.
Goffinet L, Oussalah A, Guéant-Rodriguez RM, Chery C, Basha M, Avogbe PH, Josse T, Jeannesson E, Rouyer P, Flayac J, Gerard P, Le Touze A, Bonin-Goga B, Goga D, Simon E, Feillet F, Vikkula M, Guéant JL. Goffinet L, et al. Among authors: gueant jl, gueant rodriguez rm. J Med Genet. 2016 Dec;53(12):828-834. doi: 10.1136/jmedgenet-2016-104111. Epub 2016 Aug 17. J Med Genet. 2016. PMID: 27535090
Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome.
Besnard T, Sloboda N, Goldenberg A, Küry S, Cogné B, Breheret F, Trochu E, Conrad S, Vincent M, Deb W, Balguerie X, Barbarot S, Baujat G, Ben-Omran T, Bursztejn AC, Carmignac V, Datta AN, Delignières A, Faivre L, Gardie B, Guéant JL, Kuentz P, Lenglet M, Nassogne MC, Ramaekers V, Schnur RE, Si Y, Torti E, Thevenon J, Vabres P, Van Maldergem L, Wand D, Wiedemann A, Cariou B, Redon R, Lamazière A, Bézieau S, Feillet F, Isidor B. Besnard T, et al. Among authors: gueant jl. Genet Med. 2019 Sep;21(9):2025-2035. doi: 10.1038/s41436-019-0445-x. Epub 2019 Feb 6. Genet Med. 2019. PMID: 30723320 Free article.
Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1-associated ataxia.
Ravel JM, Benkirane M, Calmels N, Marelli C, Ory-Magne F, Ewenczyk C, Halleb Y, Tison F, Lecocq C, Pische G, Casenave P, Chaussenot A, Frismand S, Tyvaert L, Larrieu L, Pointaux M, Drouot N, Bossenmeyer-Pourié C, Oussalah A, Guéant JL, Leheup B, Bonnet C, Anheim M, Tranchant C, Lambert L, Chelly J, Koenig M, Renaud M. Ravel JM, et al. Among authors: gueant jl. J Neurol. 2021 May;268(5):1927-1937. doi: 10.1007/s00415-020-10348-x. Epub 2021 Jan 8. J Neurol. 2021. PMID: 33417001
Environmental influence on the worldwide prevalence of a 776C->G variant in the transcobalamin gene (TCN2).
Guéant JL, Chabi NW, Guéant-Rodriguez RM, Mutchinick OM, Debard R, Payet C, Lu X, Villaume C, Bronowicki JP, Quadros EV, Sanni A, Amouzou E, Xia B, Chen M, Anello G, Bosco P, Romano C, Arrieta HR, Sánchez BE, Romano A, Herbeth B, Anwar W, Namour F. Guéant JL, et al. Among authors: gueant rodriguez rm. J Med Genet. 2007 Jun;44(6):363-7. doi: 10.1136/jmg.2006.048041. Epub 2007 Jan 12. J Med Genet. 2007. PMID: 17220211 Free PMC article.
Exome sequencing of cases with neural tube defects identifies candidate genes involved in one-carbon/vitamin B12 metabolisms and Sonic Hedgehog pathway.
Renard E, Chéry C, Oussalah A, Josse T, Perrin P, Tramoy D, Voirin J, Klein O, Leheup B, Feillet F, Guéant-Rodriguez RM, Guéant JL. Renard E, et al. Among authors: gueant jl, gueant rodriguez rm. Hum Genet. 2019 Jul;138(7):703-713. doi: 10.1007/s00439-019-02015-7. Epub 2019 May 28. Hum Genet. 2019. PMID: 31139930
462 results