Genetic Diagnosis of Retinoblastoma Using Aqueous Humour—Findings from an Extended Cohort.

Autor: Gerrish, Amy¹ (AUTHOR) amy.gerrish@nhs.net, Mashayamombe-Wolfgarten, Chipo¹ (AUTHOR) c.roman-montanana@nhs.net, Stone, Edward^1,2 (AUTHOR) s.clokie@nhs.net, Román-Montañana, Claudia¹ (AUTHOR) stephanie.allen13@nhs.net, Abbott, Joseph³ (AUTHOR), Jenkinson, Helen³ (AUTHOR), Millen, Gerard³ (AUTHOR), Gurney, Sam³ (AUTHOR), McCalla, Maureen³ (AUTHOR), Staveley, Sarah-Jane³ (AUTHOR), Kainth, Anu³ (AUTHOR), Kirk, Maria³ (AUTHOR), Bowen, Claire⁴ (AUTHOR) susan.cavanagh@nhs.net, Cavanagh, Susan⁴ (AUTHOR), Bunstone, Sancha² (AUTHOR) megan.carney@nhs.net, Carney, Megan² (AUTHOR), Mohite, Ajay³ (AUTHOR), Clokie, Samuel¹ (AUTHOR), Reddy, M. Ashwin⁵ (AUTHOR), Foster, Alison¹ (AUTHOR)

Publikováno v: Cancers. Apr2024, Vol. 16 Issue 8, p1565. 16p.

Analysis of dysbindin interacting genes in the pathogenesis of schizophrenia

Autor: Gerrish, Amy

Dysbindin (dystrobrevin-binding protein 1 DTNBP1) has been implicated as a schizophrenia candidate gene. However while numerous positive associations have been reported, no non-synonymous alleles have been found which account for the association. A n

Externí odkaz: http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.584741

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Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

Autor: Kunkle, Brian W, Grenier-Boley, Benjamin, Sims, Rebecca, Bis, Joshua C, Damotte, Vincent, Naj, Adam C, Boland, Anne, Vronskaya, Maria, van der Lee, Sven J, Amlie-Wolf, Alexandre, Bellenguez, Céline, Frizatti, Aura, Chouraki, Vincent, Martin, Eden R, Sleegers, Kristel, Badarinarayan, Nandini, Jakobsdottir, Johanna, Hamilton-Nelson, Kara L, Moreno-Grau, Sonia, Olaso, Robert, Raybould, Rachel, Chen, Yuning, Kuzma, Amanda B, Hiltunen, Mikko, Morgan, Taniesha, Ahmad, Shahzad, Vardarajan, Badri N, Epelbaum, Jacques, Hoffmann, Per, Boada, Merce, Beecham, Gary W, Garnier, Jean-Guillaume, Harold, Denise, Fitzpatrick, Annette L, Valladares, Otto, Moutet, Marie-Laure, Gerrish, Amy, Smith, Albert V, Qu, Liming, Bacq, Delphine, Denning, Nicola, Jian, Xueqiu, Zhao, Yi, Del Zompo, Maria, Fox, Nick C, Choi, Seung-Hoan, Mateo, Ignacio, Hughes, Joseph T, Adams, Hieab H, Malamon, John, Sanchez-Garcia, Florentino, Patel, Yogen, Brody, Jennifer A, Dombroski, Beth A, Naranjo, Maria Candida Deniz, Daniilidou, Makrina, Eiriksdottir, Gudny, Mukherjee, Shubhabrata, Wallon, David, Uphill, James, Aspelund, Thor, Cantwell, Laura B, Garzia, Fabienne, Galimberti, Daniela, Hofer, Edith, Butkiewicz, Mariusz, Fin, Bertrand, Scarpini, Elio, Sarnowski, Chloe, Bush, Will S, Meslage, Stéphane, Kornhuber, Johannes, White, Charles C, Song, Yuenjoo, Barber, Robert C, Engelborghs, Sebastiaan, Sordon, Sabrina, Voijnovic, Dina, Adams, Perrie M, Vandenberghe, Rik, Mayhaus, Manuel, Cupples, L Adrienne, Albert, Marilyn S, De Deyn, Peter P, Gu, Wei, Himali, Jayanadra J, Beekly, Duane, Squassina, Alessio, Hartmann, Annette M, Orellana, Adelina, Blacker, Deborah, Rodriguez-Rodriguez, Eloy, Lovestone, Simon, Garcia, Melissa E, Doody, Rachelle S, Munoz-Fernadez, Carmen, Sussams, Rebecca, Lin, Honghuang, Fairchild, Thomas J, Benito, Yolanda A

Publikováno v: Nature genetics, vol 51, iss 3

Risk for late-onset Alzheimer's disease (LOAD), the most prevalent dementia, is partially driven by genetics. To identify LOAD risk loci, we performed a large genome-wide association meta-analysis of clinically diagnosed LOAD (94,437 individuals). We

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::6033407f12a1a8ebc77b240a38b855f4
https://escholarship.org/uc/item/3j77j7p5