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Page 1
Variation in CFHR3 determines susceptibility to meningococcal disease by controlling factor H concentrations.
Kumar V, Pouw RB, Autio MI, Sagmeister MG, Phua ZY, Borghini L, Wright VJ, Hoggart C, Pan B, Tan AKY, Binder A, Brouwer MC, Pinnock E, De Groot R, Hazelzet J, Emonts M, Van Der Flier M, Reiter K, Nöthen MM, Hoffmann P; EUCLIDS consortium; Schlapbach LJ, Bellos E, Anderson S, Secka F, Martinón-Torres F, Salas A, Fink C, Carrol ED, Pollard AJ, Coin LJ, Zenz W, Wouters D, Ang LT, Hibberd ML, Levin M, Kuijpers TW, Davila S. Kumar V, et al. Among authors: bellos e. Am J Hum Genet. 2022 Sep 1;109(9):1680-1691. doi: 10.1016/j.ajhg.2022.08.001. Epub 2022 Aug 24. Am J Hum Genet. 2022. PMID: 36007525 Free PMC article.
Bioinformatics: living on the edge.
Bellos E, Coin LJ, Kaforou M. Bellos E, et al. Genome Biol. 2012 Oct 26;13(10):321. doi: 10.1186/gb-2012-13-10-321. Genome Biol. 2012. PMID: 23101505 Free PMC article.
Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant.
Li J, Woods SL, Healey S, Beesley J, Chen X, Lee JS, Sivakumaran H, Wayte N, Nones K, Waterfall JJ, Pearson J, Patch AM, Senz J, Ferreira MA, Kaurah P, Mackenzie R, Heravi-Moussavi A, Hansford S, Lannagan TRM, Spurdle AB, Simpson PT, da Silva L, Lakhani SR, Clouston AD, Bettington M, Grimpen F, Busuttil RA, Di Costanzo N, Boussioutas A, Jeanjean M, Chong G, Fabre A, Olschwang S, Faulkner GJ, Bellos E, Coin L, Rioux K, Bathe OF, Wen X, Martin HC, Neklason DW, Davis SR, Walker RL, Calzone KA, Avital I, Heller T, Koh C, Pineda M, Rudloff U, Quezado M, Pichurin PN, Hulick PJ, Weissman SM, Newlin A, Rubinstein WS, Sampson JE, Hamman K, Goldgar D, Poplawski N, Phillips K, Schofield L, Armstrong J, Kiraly-Borri C, Suthers GK, Huntsman DG, Foulkes WD, Carneiro F, Lindor NM, Edwards SL, French JD, Waddell N, Meltzer PS, Worthley DL, Schrader KA, Chenevix-Trench G. Li J, et al. Among authors: bellos e. Am J Hum Genet. 2016 May 5;98(5):830-842. doi: 10.1016/j.ajhg.2016.03.001. Epub 2016 Apr 14. Am J Hum Genet. 2016. PMID: 27087319 Free PMC article.
Natural resistance to Meningococcal Disease related to CFH loci: Meta-analysis of genome-wide association studies.
Martinón-Torres F, Png E, Khor CC, Davila S, Wright VJ, Sim KS, Vega A, Fachal L, Inwald D, Nadel S, Carrol ED, Martinón-Torres N, Alonso SM, Carracedo A, Morteruel E, López-Bayón J, Torre AC, Monge CC, de Aguilar PA, Torné EE, Martínez-Padilla MD, Martinón-Sánchez JM, Levin M, Hibberd ML, Salas A; ESIGEM network; ESPID meningococcal consortium – UK; EUCLIDS consortium members - Imperial College London (www.euclids-project.eu). Martinón-Torres F, et al. Sci Rep. 2016 Nov 2;6:35842. doi: 10.1038/srep35842. Sci Rep. 2016. PMID: 27805046 Free PMC article.
Life-threatening infections in children in Europe (the EUCLIDS Project): a prospective cohort study.
Martinón-Torres F, Salas A, Rivero-Calle I, Cebey-López M, Pardo-Seco J, Herberg JA, Boeddha NP, Klobassa DS, Secka F, Paulus S, de Groot R, Schlapbach LJ, Driessen GJ, Anderson ST, Emonts M, Zenz W, Carrol ED, Van der Flier M, Levin M; EUCLIDS Consortium. Martinón-Torres F, et al. Lancet Child Adolesc Health. 2018 Jun;2(6):404-414. doi: 10.1016/S2352-4642(18)30113-5. Epub 2018 Apr 28. Lancet Child Adolesc Health. 2018. PMID: 30169282 Free article.
A Rare Mutation in SPLUNC1 Affects Bacterial Adherence and Invasion in Meningococcal Disease.
Mashbat B, Bellos E, Hodeib S, Bidmos F, Thwaites RS, Lu Y, Wright VJ, Herberg JA, Klobassa DS, Zenz W, Hansel TT, Nadel S, Langford PR, Schlapbach LJ, Li MS, Redinbo MR, Di YP, Levin M, Sancho-Shimizu V. Mashbat B, et al. Among authors: bellos e. Clin Infect Dis. 2020 May 6;70(10):2045-2053. doi: 10.1093/cid/ciz600. Clin Infect Dis. 2020. PMID: 31504285 Free PMC article.
34 results