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Page 1
Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.
Le Quesne Stabej P, Saihan Z, Rangesh N, Steele-Stallard HB, Ambrose J, Coffey A, Emmerson J, Haralambous E, Hughes Y, Steel KP, Luxon LM, Webster AR, Bitner-Glindzicz M. Le Quesne Stabej P, et al. Among authors: haralambous e. J Med Genet. 2012 Jan;49(1):27-36. doi: 10.1136/jmedgenet-2011-100468. Epub 2011 Dec 1. J Med Genet. 2012. PMID: 22135276 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.
Development of a genotyping microarray for Usher syndrome.
Cremers FP, Kimberling WJ, Külm M, de Brouwer AP, van Wijk E, te Brinke H, Cremers CW, Hoefsloot LH, Banfi S, Simonelli F, Fleischhauer JC, Berger W, Kelley PM, Haralambous E, Bitner-Glindzicz M, Webster AR, Saihan Z, De Baere E, Leroy BP, Silvestri G, McKay GJ, Koenekoop RK, Millan JM, Rosenberg T, Joensuu T, Sankila EM, Weil D, Weston MD, Wissinger B, Kremer H. Cremers FP, et al. Among authors: haralambous e. J Med Genet. 2007 Feb;44(2):153-60. doi: 10.1136/jmg.2006.044784. Epub 2006 Sep 8. J Med Genet. 2007. PMID: 16963483 Free PMC article.
Polymorphisms in PARP, IL1B, IL4, IL10, C1INH, DEFB1, and DEFA4 in meningococcal disease in three populations.
Emonts M, Vermont CL, Houwing-Duistermaat JJ, Haralambous E, Gaast-de Jongh CE, Hazelzet JA, Faust SN, Betts H, Hermans PW, Levin M, de Groot R; St. Mary's-Imperial College and Erasmus MC-Sophia Children's Hospitals Meningococcal Research Groups. Emonts M, et al. Among authors: haralambous e. Shock. 2010 Jul;34(1):17-22. doi: 10.1097/SHK.0b013e3181ce2c7d. Shock. 2010. PMID: 20016407