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20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition.
Piton A, Poquet H, Redin C, Masurel A, Lauer J, Muller J, Thevenon J, Herenger Y, Chancenotte S, Bonnet M, Pinoit JM, Huet F, Thauvin-Robinet C, Jaeger AS, Le Gras S, Jost B, Gérard B, Peoc'h K, Launay JM, Faivre L, Mandel JL. Piton A, et al. Among authors: bonnet m. Eur J Hum Genet. 2014 Jun;22(6):776-83. doi: 10.1038/ejhg.2013.243. Epub 2013 Oct 30. Eur J Hum Genet. 2014. PMID: 24169519 Free PMC article.
Heterozygous deletion of the LRFN2 gene is associated with working memory deficits.
Thevenon J, Souchay C, Seabold GK, Dygai-Cochet I, Callier P, Gay S, Corbin L, Duplomb L, Thauvin-Robinet C, Masurel-Paulet A, El Chehadeh S, Avila M, Minot D, Guedj E, Chancenotte S, Bonnet M, Lehalle D, Wang YX, Kuentz P, Huet F, Mosca-Boidron AL, Marle N, Petralia RS, Faivre L. Thevenon J, et al. Among authors: bonnet m. Eur J Hum Genet. 2016 Jun;24(6):911-8. doi: 10.1038/ejhg.2015.221. Epub 2015 Oct 21. Eur J Hum Genet. 2016. PMID: 26486473 Free PMC article.
A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome.
Masurel-Paulet A, Piton A, Chancenotte S, Redin C, Thauvin-Robinet C, Henrenger Y, Minot D, Creppy A, Ruffier-Bourdet M, Thevenon J, Kuentz P, Lehalle D, Curie A, Blanchard G, Ghosn E, Bonnet M, Archimbaud-Devilliers M, Huet F, Perret O, Philip N, Mandel JL, Faivre L. Masurel-Paulet A, et al. Among authors: bonnet m. Am J Med Genet A. 2016 Aug;170(8):2103-10. doi: 10.1002/ajmg.a.37765. Epub 2016 Jun 3. Am J Med Genet A. 2016. PMID: 27256868
Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability.
Thevenon J, Lopez E, Keren B, Heron D, Mignot C, Altuzarra C, Béri-Dexheimer M, Bonnet C, Magnin E, Burglen L, Minot D, Vigneron J, Morle S, Anheim M, Charles P, Brice A, Gallagher L, Amiel J, Haffen E, Mach C, Depienne C, Doummar D, Bonnet M, Duplomb L, Carmignac V, Callier P, Marle N, Mosca-Boidron AL, Roze V, Aral B, Razavi F, Jonveaux P, Faivre L, Thauvin-Robinet C. Thevenon J, et al. Among authors: bonnet m, bonnet c. J Med Genet. 2012 Jun;49(6):400-8. doi: 10.1136/jmedgenet-2012-100856. J Med Genet. 2012. PMID: 22693284
12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech.
Thevenon J, Callier P, Andrieux J, Delobel B, David A, Sukno S, Minot D, Mosca Anne L, Marle N, Sanlaville D, Bonnet M, Masurel-Paulet A, Levy F, Gaunt L, Farrell S, Le Caignec C, Toutain A, Carmignac V, Mugneret F, Clayton-Smith J, Thauvin-Robinet C, Faivre L. Thevenon J, et al. Among authors: bonnet m. Eur J Hum Genet. 2013 Jan;21(1):82-8. doi: 10.1038/ejhg.2012.116. Epub 2012 Jun 20. Eur J Hum Genet. 2013. PMID: 22713806 Free PMC article.
Expanding the clinical phenotype of patients with a ZDHHC9 mutation.
Masurel-Paulet A, Kalscheuer VM, Lebrun N, Hu H, Levy F, Thauvin-Robinet C, Darmency-Stamboul V, El Chehadeh S, Thevenon J, Chancenotte S, Ruffier-Bourdet M, Bonnet M, Pinoit JM, Huet F, Desportes V, Chelly J, Faivre L. Masurel-Paulet A, et al. Among authors: bonnet m. Am J Med Genet A. 2014 Mar;164A(3):789-95. doi: 10.1002/ajmg.a.36348. Epub 2013 Dec 19. Am J Med Genet A. 2014. PMID: 24357419
Stool processing methods for Xpert Ultra testing in childhood tuberculosis: A prospective, multi-country accuracy study.
Jaganath D, Nabeta P, Nicol MP, Castro R, Wambi P, Zar HJ, Workman L, Lodha R, Singh UB, Bavdekar A, Sanghavi S, Trollip A, Mace A, Bonnet M, Lounnas M, de Haas P, Tiemersma E, Alland D, Banada P, Cattamanchi A, Ruhwald M, Wobudeya E, Denkinger CM. Jaganath D, et al. Among authors: bonnet m. medRxiv [Preprint]. 2024 Dec 18:2024.12.17.24317956. doi: 10.1101/2024.12.17.24317956. medRxiv. 2024. PMID: 39763536 Free PMC article. Preprint.
Strontium isoscape of sub-Saharan Africa allows tracing origins of victims of the transatlantic slave trade.
Wang X, Bocksberger G, Arandjelovic M, Agbor A, Angedakin S, Aubert F, Ayimisin EA, Bailey E, Barubiyo D, Bessone M, Bobe R, Bonnet M, Boucher R, Brazzola G, Brewer S, Lee KC, Carvalho S, Chancellor R, Cipoletta C, Cohen H, Copeland SR, Corogenes K, Costa AM, Coupland C, Curran B, de Ruiter DJ, Deschner T, Dieguez P, Dierks K, Dilambaka E, Dowd D, Dunn A, Egbe VE, Finckh M, Fruth B, Gijanto L, Yuh YG, Goedmakers A, Gokee C, Gomes Coelho R, Goodman AH, Granjon AC, Grimes V, Grueter CC, Haour A, Hedwig D, Hermans V, Hernandez-Aguilar RA, Hohmann G, Imong I, Jeffery KJ, Jones S, Junker J, Kadam P, Kambere M, Kambi M, Kienast I, Knudson KJ, Langergraber KE, Lapeyre V, Lapuente J, Larson B, Lautenschläger T, le Roux P, Leinert V, Llana M, Logan A, Lowry B, Lüdecke T, Maretti G, Marrocoli S, Fernandez R, McNeill PJ, Meier AC, Meller P, Monroe JC, Morgan D, Mulindahabi F, Murai M, Neil E, Nicholl S, Niyigaba P, Normand E, Ormsby LJ, Diotoh O, Pacheco L, Piel A, Preece J, Regnaut S, Richard FG, Richards MP, Rundus A, Sanz C, Sommer V, Sponheimer M, Steele TE, Stewart FA, Tagg N, Tédonzong LR, Tickle A, Toubga L, van Schijndel J, Vergnes V, Njomen NW, Wessling EG, Willie J, Wittig R… See abstract for full author list ➔ Wang X, et al. Among authors: bonnet m. Nat Commun. 2024 Dec 30;15(1):10891. doi: 10.1038/s41467-024-55256-0. Nat Commun. 2024. PMID: 39738027 Free PMC article.
Effectiveness of the primary Bacillus Calmette-Guérin vaccine against the risk of Mycobacterium tuberculosis infection and tuberculosis disease: a meta-analysis of individual participant data.
Pelzer PT, Stuck L, Martinez L, Richards AS, Acuña-Villaorduña C, Aronson NE, Bonnet M, Carvalho AC, Chan PC, Huang LM, Fang CT, Churchyard G, Corral-Londoño HD, Datta M, Espinal MA, Fielding K, Fiore-Gartland AJ, Garcia-Basteiro A, Hanekom W, Hatherill M, Hill PC, Huerga H, Jones-López EC, Kritski A, Mandalakas AM, Mangtani P, Martins Netto E, Mayanja H, Mazahir R, Murray M, Rangaka M, Scriba T, Singh J, Singh S, Stein CM, Vekemans J, Verhagen LM, Villalba JA, Wajja A, Watson B, White RG, Cobelens FGJ. Pelzer PT, et al. Among authors: bonnet m. Lancet Microbe. 2024 Dec 19:100961. doi: 10.1016/j.lanmic.2024.100961. Online ahead of print. Lancet Microbe. 2024. PMID: 39709975 Free article.
1,270 results