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Page 1
Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's disease.
Holstege H, Hulsman M, Charbonnier C, Grenier-Boley B, Quenez O, Grozeva D, van Rooij JGJ, Sims R, Ahmad S, Amin N, Norsworthy PJ, Dols-Icardo O, Hummerich H, Kawalia A, Amouyel P, Beecham GW, Berr C, Bis JC, Boland A, Bossù P, Bouwman F, Bras J, Campion D, Cochran JN, Daniele A, Dartigues JF, Debette S, Deleuze JF, Denning N, DeStefano AL, Farrer LA, Fernández MV, Fox NC, Galimberti D, Genin E, Gille JJP, Le Guen Y, Guerreiro R, Haines JL, Holmes C, Ikram MA, Ikram MK, Jansen IE, Kraaij R, Lathrop M, Lemstra AW, Lleó A, Luckcuck L, Mannens MMAM, Marshall R, Martin ER, Masullo C, Mayeux R, Mecocci P, Meggy A, Mol MO, Morgan K, Myers RM, Nacmias B, Naj AC, Napolioni V, Pasquier F, Pastor P, Pericak-Vance MA, Raybould R, Redon R, Reinders MJT, Richard AC, Riedel-Heller SG, Rivadeneira F, Rousseau S, Ryan NS, Saad S, Sanchez-Juan P, Schellenberg GD, Scheltens P, Schott JM, Seripa D, Seshadri S, Sie D, Sistermans EA, Sorbi S, van Spaendonk R, Spalletta G, Tesi N, Tijms B, Uitterlinden AG, van der Lee SJ, Visser PJ, Wagner M, Wallon D, Wang LS, Zarea A, Clarimon J, van Swieten JC, Greicius MD, Yokoyama JS, Cruchaga C, Hardy J, Ramirez A, Mead S, van der Flier WM, van Duijn CM, W… See abstract for full author list ➔ Holstege H, et al. Among authors: deleuze jf. Nat Genet. 2022 Dec;54(12):1786-1794. doi: 10.1038/s41588-022-01208-7. Epub 2022 Nov 21. Nat Genet. 2022. PMID: 36411364 Free PMC article.
ABCA2 is a strong genetic risk factor for early-onset Alzheimer's disease.
Macé S, Cousin E, Ricard S, Génin E, Spanakis E, Lafargue-Soubigou C, Génin B, Fournel R, Roche S, Haussy G, Massey F, Soubigou S, Bréfort G, Benoit P, Brice A, Campion D, Hollis M, Pradier L, Benavides J, Deleuze JF. Macé S, et al. Among authors: deleuze jf. Neurobiol Dis. 2005 Feb;18(1):119-25. doi: 10.1016/j.nbd.2004.09.011. Neurobiol Dis. 2005. PMID: 15649702
Association study of the GAB2 gene with the risk of developing Alzheimer's disease.
Chapuis J, Hannequin D, Pasquier F, Bentham P, Brice A, Leber I, Frebourg T, Deleuze JF, Cousin E, Thaker U, Amouyel P, Mann D, Lendon C, Campion D, Lambert JC. Chapuis J, et al. Among authors: deleuze jf. Neurobiol Dis. 2008 Apr;30(1):103-6. doi: 10.1016/j.nbd.2007.12.006. Epub 2008 Jan 5. Neurobiol Dis. 2008. PMID: 18272374
Meta-analysis of 65,734 individuals identifies TSPAN15 and SLC44A2 as two susceptibility loci for venous thromboembolism.
Germain M, Chasman DI, de Haan H, Tang W, Lindström S, Weng LC, de Andrade M, de Visser MC, Wiggins KL, Suchon P, Saut N, Smadja DM, Le Gal G, van Hylckama Vlieg A, Di Narzo A, Hao K, Nelson CP, Rocanin-Arjo A, Folkersen L, Monajemi R, Rose LM, Brody JA, Slagboom E, Aïssi D, Gagnon F, Deleuze JF, Deloukas P, Tzourio C, Dartigues JF, Berr C, Taylor KD, Civelek M, Eriksson P; Cardiogenics Consortium; Psaty BM, Houwing-Duitermaat J, Goodall AH, Cambien F, Kraft P, Amouyel P, Samani NJ, Basu S, Ridker PM, Rosendaal FR, Kabrhel C, Folsom AR, Heit J, Reitsma PH, Trégouët DA, Smith NL, Morange PE. Germain M, et al. Among authors: deleuze jf. Am J Hum Genet. 2015 Apr 2;96(4):532-42. doi: 10.1016/j.ajhg.2015.01.019. Epub 2015 Mar 12. Am J Hum Genet. 2015. PMID: 25772935 Free PMC article.
Rare ACTG1 variants in fetal microlissencephaly.
Poirier K, Martinovic J, Laquerrière A, Cavallin M, Fallet-Bianco C, Desguerre I, Valence S, Grande-Goburghun J, Francannet C, Deleuze JF, Boland A, Chelly J, Bahi-Buisson N. Poirier K, et al. Among authors: deleuze jf. Eur J Med Genet. 2015 Aug;58(8):416-8. doi: 10.1016/j.ejmg.2015.06.006. Epub 2015 Jul 16. Eur J Med Genet. 2015. PMID: 26188271
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: deleuze jf. 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.
A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.
Fritsche LG, Igl W, Bailey JN, Grassmann F, Sengupta S, Bragg-Gresham JL, Burdon KP, Hebbring SJ, Wen C, Gorski M, Kim IK, Cho D, Zack D, Souied E, Scholl HP, Bala E, Lee KE, Hunter DJ, Sardell RJ, Mitchell P, Merriam JE, Cipriani V, Hoffman JD, Schick T, Lechanteur YT, Guymer RH, Johnson MP, Jiang Y, Stanton CM, Buitendijk GH, Zhan X, Kwong AM, Boleda A, Brooks M, Gieser L, Ratnapriya R, Branham KE, Foerster JR, Heckenlively JR, Othman MI, Vote BJ, Liang HH, Souzeau E, McAllister IL, Isaacs T, Hall J, Lake S, Mackey DA, Constable IJ, Craig JE, Kitchner TE, Yang Z, Su Z, Luo H, Chen D, Ouyang H, Flagg K, Lin D, Mao G, Ferreyra H, Stark K, von Strachwitz CN, Wolf A, Brandl C, Rudolph G, Olden M, Morrison MA, Morgan DJ, Schu M, Ahn J, Silvestri G, Tsironi EE, Park KH, Farrer LA, Orlin A, Brucker A, Li M, Curcio CA, Mohand-Saïd S, Sahel JA, Audo I, Benchaboune M, Cree AJ, Rennie CA, Goverdhan SV, Grunin M, Hagbi-Levi S, Campochiaro P, Katsanis N, Holz FG, Blond F, Blanché H, Deleuze JF, Igo RP Jr, Truitt B, Peachey NS, Meuer SM, Myers CE, Moore EL, Klein R, Hauser MA, Postel EA, Courtenay MD, Schwartz SG, Kovach JL, Scott WK, Liew G, Tan AG, Gopinath B, Merriam JC, Smith RT, K… See abstract for full author list ➔ Fritsche LG, et al. Among authors: deleuze jf. Nat Genet. 2016 Feb;48(2):134-43. doi: 10.1038/ng.3448. Epub 2015 Dec 21. Nat Genet. 2016. PMID: 26691988 Free PMC article.
439 results