Items where Subject is "Q Science > QH Natural history > QH426 Genetics > QH438.7 Human genetics"

Article

• Anthony, K., Arechavala-Gomeza, V., Ricotti, V., Torelli, S., Feng, L., Janghra, N., Tasca, G., Guglieri, M., Barresi, R., Armaroli, A., Ferlini, A., Bushby, K., Straub, V., Ricci, E., Sewry, C., Morgan, J. and Muntoni, F. (2014) Biochemical characterization of patients with in-frame or out-of-frame DMD deletions pertinent to Exon 44 or 45 skipping. JAMA Neurology. 71(1), pp. 32-40. 2168-6149.
• Hardwick, R. J., Amogne, W., Mugusi, S., Yimer, G., Ngaimisi, E., Habtewold, A., Minzi, O., Makonnen, E., Janabi, M., Machado, L., Viskaduraki, M., Mugusi, F., Aderaye, G., Lindquist, L., Hollox, E. J. and Aklillu, E. (2012) B-defensin genomic copy number is associated with HIV load and immune reconstitution in sub-Saharan Africans. The Journal of Infectious Diseases. 206(7), pp. 1012-1019. 1537-6613.
• Hardwick, R. J., Machado, L., Zuccherato, L., Antolinos, S., Xue, Y., Shawa, N., Gilman, R., Cabrera, L., Berg, D., Tyler-Smith, C., Kelly, P., Tarazona-Santos, E. and Hollox, E. J. (2011) A worldwide analysis of beta-defensin copy number variation suggests recent selection of a high-expressing DEFB103 gene copy in East Asia. Human Mutation. 32(7), pp. 743-750. 1059-7794.
• Hargreaves, C. E., Rose-Zerilli, M. J. J., Machado, L., Iriyama, C., Hollox, E. J., Cragg, M. S. and Strefford, J. C. (2015) Fcγ receptors: genetic variation, function, and disease. Immunological Reviews. 268(1), pp. 6-24. 1600-065X.
• Haridan, U. S., Mokhtar, U., Machado, L., Abdul Aziz, A. T., Shueb, R. H., Zaid, M., Sim, B., Mustafa, M., Nik Yusof, N. K., Lee, C. K. C., Abu Bakar, S., AbuBakar, S., Hollox, E. J. and Boon Peng, H. (2015) A comparison of assays for accurate copy number measurement of the low-affinity Fc gamma receptor genes FCGR3A and FCGR3B. PLoS ONE. 10(1) 1932-6203.
• Johannesson, J. (2011) Genetics, stem cell therapies, convergence of biology and other sciences and their impact on Africa. Contemporary Global Studies Review. 1(1), pp. 26-28. 2045-2608.
• Machado, L., Hardwick, R. J., Bowdrey, J., Bogle, H., Knowles, T., Sironi, M. and Hollox, E. J. (2012) Evolutionary history of copy-number-variable locus for the low-affinity Fcy receptor: mutation rate, autoimmune disease, and the legacy of helminth infection. The American Journal of Human Genetics. 90(6), pp. 973-985. 0002-9297.
• Ricotti, V., Eagle, M., Butler, J., Decostre, V., Deborah, R., Moraux, A., Anthony, K., Sleby, V., Guglieri, M., Van der Holst, M., Jansen, M., Morgan, J., de Groot, I., Niks, E., Verschuuren, J., Servais, L., Hogrel, J. Y., Voit, T., Straub, V. and Muntoni, F. (2015) G.P.147 - Outcome measures for Duchenne muscular dystrophy from ambulant to non-ambulant: implications for clinical trials. Neuromuscular Disorders. 25(Supp 2), S229. 0960-8966.
• Vasa-Nicotera, M., Brouilette, S., Mangino, M., Thompson, J. R., Braund, P., Clemitson, J.-R., Mason, A., Bodycote, C. L., Raleigh, S. M., Louis, E. and Samani, N. J. (2005) Mapping of a major locus that determines telomere length in humans. American Journal of Human Genetics. 76(1), pp. 147-151. 1537-6605.
• Zaharieva, I., Cirak, S., Anthony, K., Feng, L., Tasca, G., Ferlini, A., Morgan, J. and Muntoni, F. (2015) G.P.228 - Micro RNA profile associated with the dystrophin level in Becker muscular dystrophy. Neuromuscular Disorders. 25(Supp 2), S255. 0960-8966.

Book Section

• Ekberg, M. E. (2013) Eugenics past, present and future. In: Turda, M. (ed.) Crafting Humans: From Genesis to Eugenics and Beyond. Gottingen: V & R Unipress. pp. 89-109.

Conference or Workshop Item

• Machado, L., Hardwick, R. J., Bogle, H., Bowdrey, J., Sironi, M. and Hollox, E. J. (2011) Evolutionary history of the low-affinity Fc gamma receptor copy number variable locus: diversity, disease and helminth infection. Poster presented to: Annual Congress of the British Society for Immunology, Liverpool, UK, 05-08 December 2011. (Unpublished)
• Rahbari, R., Zuccherato, L., Tischler, G., Chihota, B., Tarazona-Santos, E., Machado, L. and Hollox, E. J. (2016) Understanding the genomic structure of copy number variants of the low-affinity Fcγ receptor region allows confirmation of the association of FCGR3B deletion with rheumatoid arthritis. Poster presented to: British Society for Immunology/Dutch Society for Immunology (BSI/NVVI) Annual Congress 2016, Liverpool, 06-09 December 2016.