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Impact of pathogenic FBN1 variant types on the development of severe scoliosis in patients with Marfan syndromeTaniguchi, Yuki ; Takeda, Norifumi ; Inuzuka, Ryo ; Matsubayashi, Yoshitaka ; Kato, So ; Doi, Toru ; Yagi, Hiroki ; Yamauchi, Haruo ; Ando, Masahiko ; Oshima, Yasushi ; Tanaka, SakaeJournal of medical genetics, 2023-01, Vol.60 (1), p.74-80 [Periódico revisado por pares]England: BMJ Publishing Group LtdTexto completo disponível |
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Tumour risks and genotype–phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHDAndrews, Katrina A ; Ascher, David B ; Pires, Douglas Eduardo Valente ; Barnes, Daniel R ; Vialard, Lindsey ; Casey, Ruth T ; Bradshaw, Nicola ; Adlard, Julian ; Aylwin, Simon ; Brennan, Paul ; Brewer, Carole ; Cole, Trevor ; Cook, Jackie A ; Davidson, Rosemarie ; Donaldson, Alan ; Fryer, Alan ; Greenhalgh, Lynn ; hodgson, Shirley V ; Irving, Richard ; Lalloo, Fiona ; McConachie, Michelle ; McConnell, Vivienne P M ; Morrison, Patrick J ; Murday, Victoria ; Park, Soo-Mi ; Simpson, Helen L ; Snape, Katie ; Stewart, Susan ; Tomkins, Susan E ; Wallis, Yvonne ; Izatt, Louise ; Goudie, David ; Lindsay, Robert S ; Perry, Colin G ; Woodward, Emma R ; Antoniou, Antonis C ; Maher, Eamonn RJournal of medical genetics, 2018-06, Vol.55 (6), p.384-394 [Periódico revisado por pares]England: BMJ Publishing Group LTDTexto completo disponível |
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Material Type: Artigo
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Toward personalized cognitive diagnostics of at-genetic-risk Alzheimer’s diseaseCoughlan, Gillian ; Coutrot, Antoine ; Khondoker, Mizanur ; Minihane, Anne-Marie ; Spiers, Hugo ; Hornberger, MichaelProceedings of the National Academy of Sciences - PNAS, 2019-05, Vol.116 (19), p.9285-9292 [Periódico revisado por pares]United States: National Academy of SciencesTexto completo disponível |
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Material Type: Artigo
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Clinical importance of extended second field high‐resolution HLA genotyping for kidney transplantationSenev, Aleksandar ; Emonds, Marie‐Paule ; Van Sandt, Vicky ; Lerut, Evelyne ; Coemans, Maarten ; Sprangers, Ben ; Kuypers, Dirk ; Naesens, MaartenAmerican journal of transplantation, 2020-12, Vol.20 (12), p.3367-3378 [Periódico revisado por pares]United States: Wiley Subscription Services, IncTexto completo disponível |
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Material Type: Artigo
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Long-term coffee consumption, caffeine metabolism genetics, and risk of cardiovascular disease: a prospective analysis of up to 347,077 individuals and 8368 casesZhou, Ang ; Hyppönen, ElinaThe American journal of clinical nutrition, 2019-03, Vol.109 (3), p.509-516 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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APOE and Alzheimer disease: a major gene with semi-dominant inheritanceGENIN, E ; HANNEQUIN, D ; PASQUIER, F ; DUBOIS, B ; TOGNONI, G ; FIEVET, N ; BROUWERS, N ; BETTENS, K ; AROSIO, B ; COTO, E ; DEL ZOMPO, M ; MATEO, I ; WALLON, D ; EPELBAUM, J ; FRANK-GARCIA, A ; HELISALMI, S ; PORCELLINI, E ; PILOTTO, A ; FORTI, P ; FERRI, R ; SCARPINI, E ; SICILIANO, G ; SOLFRIZZI, V ; SLEEPERS, K ; SORBI, S ; SPALLETTA, G ; VALDIVIESO, F ; VEPSÄLÄINEN, S ; ALVAREZ, V ; BOSCO, P ; MANCUSO, M ; PANZA, F ; NACMIAS, B ; BOSSU, P ; HILTUNEN, M ; HANON, O ; PICCARDI, P ; ANNONI, G ; SERIPA, D ; GALIMBERTI, D ; LICASTRO, F ; SOININEN, H ; DARTIGUES, J.-F ; KAMBOH, M. I ; VAN BROECKHOVEN, C ; COMBARROS, O ; LAMBERT, J. C ; AMOUYEL, P ; CAMPION, D ; BULLIDO, M. J ; ENGELBORGHS, S ; DE DEYN, P ; BERR, CMolecular psychiatry, 2011-09, Vol.16 (9), p.903-907 [Periódico revisado por pares]Basingstoke: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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AQP1 Promoter Variant, Water Transport, and Outcomes in Peritoneal DialysisMorelle, Johann ; Marechal, Céline ; Yu, Zanzhe ; Debaix, Huguette ; Corre, Tanguy ; Lambie, Mark ; Verduijn, Marion ; Dekker, Friedo ; Bovy, Philippe ; Evenepoel, Pieter ; Bammens, Bert ; Selgas, Rafael ; Bajo, Maria A ; Coester, Annemieke M ; Sow, Amadou ; Hautem, Nicolas ; Struijk, Dirk G ; Krediet, Raymond T ; Balligand, Jean-Luc ; Goffin, Eric ; Crott, Ralph ; Ripoche, Pierre ; Davies, Simon ; Devuyst, OlivierThe New England journal of medicine, 2021-10, Vol.385 (17), p.1570-1580 [Periódico revisado por pares]United States: Massachusetts Medical SocietyTexto completo disponível |
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Genome-Wide Association Study of Type 2 Diabetes in Finns Detects Multiple Susceptibility VariantsScott, Laura J ; Mohlke, Karen L ; Bonnycastle, Lori L ; Willer, Cristen J ; Li, Yun ; Duren, William L ; Erdos, Michael R ; Stringham, Heather M ; Chines, Peter S ; Jackson, Anne U ; Prokunina-Olsson, Ludmila ; Ding, Chia-Jen ; Swift, Amy J ; Narisu, Narisu ; Hu, Tianle ; Pruim, Randall ; Xiao, Rui ; Li, Xiao-Yi ; Conneely, Karen N ; Riebow, Nancy L ; Sprau, Andrew G ; Tong, Maurine ; White, Peggy P ; Hetrick, Kurt N ; Barnhart, Michael W ; Bark, Craig W ; Goldstein, Janet L ; Watkins, Lee ; Xiang, Fang ; Saramies, Jouko ; Buchanan, Thomas A ; Watanabe, Richard M ; Valle, Timo T ; Kinnunen, Leena ; Abecasis, Gonçalo R ; Pugh, Elizabeth W ; Doheny, Kimberly F ; Bergman, Richard N ; Tuomilehto, Jaakko ; Collins, Francis S ; Boehnke, MichaelScience (American Association for the Advancement of Science), 2007-06, Vol.316 (5829), p.1341-1345 [Periódico revisado por pares]Washington, DC: American Association for the Advancement of ScienceTexto completo disponível |
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Material Type: Artigo
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Exceptionally low likelihood of Alzheimer's dementia in APOE2 homozygotes from a 5,000-person neuropathological studyReiman, Eric M ; Arboleda-Velasquez, Joseph F ; Quiroz, Yakeel T ; Huentelman, Matthew J ; Beach, Thomas G ; Caselli, Richard J ; Chen, Yinghua ; Su, Yi ; Myers, Amanda J ; Hardy, John ; Paul Vonsattel, Jean ; Younkin, Steven G ; Bennett, David A ; De Jager, Philip L ; Larson, Eric B ; Crane, Paul K ; Keene, C Dirk ; Kamboh, M Ilyas ; Kofler, Julia K ; Duque, Linda ; Gilbert, John R ; Gwirtsman, Harry E ; Buxbaum, Joseph D ; Dickson, Dennis W ; Frosch, Matthew P ; Ghetti, Bernardino F ; Lunetta, Kathryn L ; Wang, Li-San ; Hyman, Bradley T ; Kukull, Walter A ; Foroud, Tatiana ; Haines, Jonathan L ; Mayeux, Richard P ; Pericak-Vance, Margaret A ; Schneider, Julie A ; Trojanowski, John Q ; Farrer, Lindsay A ; Schellenberg, Gerard D ; Beecham, Gary W ; Montine, Thomas J ; Jun, Gyungah RNature communications, 2020-02, Vol.11 (1), p.667-667, Article 667 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Associations of Alzheimer Disease–Protective APOE Variants With Age-Related Macular DegenerationRasmussen, Katrine L ; Tybjærg-Hansen, Anne ; Nordestgaard, Børge G ; Frikke-Schmidt, RuthArchives of ophthalmology (1960), 2023-01, Vol.141 (1), p.13-21 [Periódico revisado por pares]United States: American Medical AssociationTexto completo disponível |