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Page 1
Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification.
Nicolas G, Pottier C, Maltête D, Coutant S, Rovelet-Lecrux A, Legallic S, Rousseau S, Vaschalde Y, Guyant-Maréchal L, Augustin J, Martinaud O, Defebvre L, Krystkowiak P, Pariente J, Clanet M, Labauge P, Ayrignac X, Lefaucheur R, Le Ber I, Frébourg T, Hannequin D, Campion D. Nicolas G, et al. Among authors: coutant s. Neurology. 2013 Jan 8;80(2):181-7. doi: 10.1212/WNL.0b013e31827ccf34. Epub 2012 Dec 19. Neurology. 2013. PMID: 23255827
High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease.
Pottier C, Hannequin D, Coutant S, Rovelet-Lecrux A, Wallon D, Rousseau S, Legallic S, Paquet C, Bombois S, Pariente J, Thomas-Anterion C, Michon A, Croisile B, Etcharry-Bouyx F, Berr C, Dartigues JF, Amouyel P, Dauchel H, Boutoleau-Bretonnière C, Thauvin C, Frebourg T, Lambert JC, Campion D; PHRC GMAJ Collaborators. Pottier C, et al. Among authors: coutant s. Mol Psychiatry. 2012 Sep;17(9):875-9. doi: 10.1038/mp.2012.15. Epub 2012 Apr 3. Mol Psychiatry. 2012. PMID: 22472873
Germline mutations of inhibins in early-onset ovarian epithelial tumors.
Tournier I, Marlin R, Walton K, Charbonnier F, Coutant S, Théry JC, Charbonnier C, Spurrell C, Vezain M, Ippolito L, Bougeard G, Roman H, Tinat J, Sabourin JC, Stoppa-Lyonnet D, Caron O, Bressac-de Paillerets B, Vaur D, King MC, Harrison C, Frebourg T. Tournier I, et al. Among authors: coutant s. Hum Mutat. 2014 Mar;35(3):294-7. doi: 10.1002/humu.22489. Epub 2013 Dec 27. Hum Mutat. 2014. PMID: 24302632 Free PMC article.
De novo deleterious genetic variations target a biological network centered on Aβ peptide in early-onset Alzheimer disease.
Rovelet-Lecrux A, Charbonnier C, Wallon D, Nicolas G, Seaman MN, Pottier C, Breusegem SY, Mathur PP, Jenardhanan P, Le Guennec K, Mukadam AS, Quenez O, Coutant S, Rousseau S, Richard AC, Boland A, Deleuze JF, Frebourg T, Hannequin D, Campion D; CNR-MAJ collaborators. Rovelet-Lecrux A, et al. Among authors: coutant s. Mol Psychiatry. 2015 Sep;20(9):1046-56. doi: 10.1038/mp.2015.100. Epub 2015 Jul 21. Mol Psychiatry. 2015. PMID: 26194182
Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons.
Nicolas G, Wallon D, Charbonnier C, Quenez O, Rousseau S, Richard AC, Rovelet-Lecrux A, Coutant S, Le Guennec K, Bacq D, Garnier JG, Olaso R, Boland A, Meyer V, Deleuze JF, Munter HM, Bourque G, Auld D, Montpetit A, Lathrop M, Guyant-Maréchal L, Martinaud O, Pariente J, Rollin-Sillaire A, Pasquier F, Le Ber I, Sarazin M, Croisile B, Boutoleau-Bretonnière C, Thomas-Antérion C, Paquet C, Sauvée M, Moreaud O, Gabelle A, Sellal F, Ceccaldi M, Chamard L, Blanc F, Frebourg T, Campion D, Hannequin D. Nicolas G, et al. Among authors: coutant s. Eur J Hum Genet. 2016 May;24(5):710-6. doi: 10.1038/ejhg.2015.173. Epub 2015 Aug 5. Eur J Hum Genet. 2016. PMID: 26242991 Free PMC article.
Familial solitary chondrosarcoma resulting from germline EXT2 mutation.
Heddar A, Fermey P, Coutant S, Angot E, Sabourin JC, Michelin P, Parodi N, Charbonnier F, Vezain M, Bougeard G, Baert-Desurmont S, Frébourg T, Tournier I. Heddar A, et al. Among authors: coutant s. Genes Chromosomes Cancer. 2017 Feb;56(2):128-134. doi: 10.1002/gcc.22419. Epub 2016 Oct 25. Genes Chromosomes Cancer. 2017. PMID: 27636706
A de novo variant in ADGRL2 suggests a novel mechanism underlying the previously undescribed association of extreme microcephaly with severely reduced sulcation and rhombencephalosynapsis.
Vezain M, Lecuyer M, Rubio M, Dupé V, Ratié L, David V, Pasquier L, Odent S, Coutant S, Tournier I, Trestard L, Adle-Biassette H, Vivien D, Frébourg T, Gonzalez BJ, Laquerrière A, Saugier-Veber P. Vezain M, et al. Among authors: coutant s. Acta Neuropathol Commun. 2018 Oct 19;6(1):109. doi: 10.1186/s40478-018-0610-5. Acta Neuropathol Commun. 2018. PMID: 30340542 Free PMC article.
Confirmation and further delineation of the SMG9-deficiency syndrome, a rare and severe developmental disorder.
Lecoquierre F, Bonnevalle A, Chadie A, Gayet C, Dumant-Forest C, Renaux-Petel M, Leca JB, Hazelzet T, Brasseur-Daudruy M, Louillet F, Muraine M, Coutant S, Quenez O, Boland A, Deleuze JF, Frebourg T, Goldenberg A, Saugier-Veber P, Guerrot AM, Nicolas G. Lecoquierre F, et al. Among authors: coutant s. Am J Med Genet A. 2019 Nov;179(11):2257-2262. doi: 10.1002/ajmg.a.61317. Epub 2019 Aug 7. Am J Med Genet A. 2019. PMID: 31390136
Exome sequencing identifies the first genetic determinants of sirenomelia in humans.
Lecoquierre F, Brehin AC, Coutant S, Coursimault J, Bazin A, Finck W, Benoist G, Begorre M, Beneteau C, Cailliez D, Chenal P, De Jong M, Degré S, Devisme L, Francannet C, Gérard B, Jeanne C, Joubert M, Journel H, Laurichesse Delmas H, Layet V, Liquier A, Mangione R, Patrier S, Pelluard F, Petit F, Tillouche N, van Ravenswaaij-Arts C, Frebourg T, Saugier-Veber P, Gruchy N, Nicolas G, Gerard M. Lecoquierre F, et al. Among authors: coutant s. Hum Mutat. 2020 May;41(5):926-933. doi: 10.1002/humu.23998. Epub 2020 Mar 1. Hum Mutat. 2020. PMID: 32058622
36 results