Items where Subject is "R Medicine > RB Pathology > RB151 Theories of disease. Etiology. Pathogenesis > RB155 Medical genetics"

2016

• Brown, K. L., Seale, K. B., El Khoury, L., Postthumus, M., Ribbans, W. J., Raleigh, S. M., Collins, M. and September, A. V. (2016) Polymorphisms within the COL5A1 gene and regulators of the extracellular matrix modify the risk of Achilles tendon pathology in a British case control study. Journal of Sports Sciences. 35(15), pp. 1475-1483. 0264-0414.
• El Khoury, L., Ribbans, W. J. and Raleigh, S. M. (2016) MMP3 and TIMP2 gene variants as predisposing factors for Achilles tendon pathologies: attempted replication study in a British case–control cohort. Meta Gene. 9, pp. 52-55. 2214-5400.
• Gibbon, A., Hobbs, H., Van der Merwe, W., Raleigh, S. M., Cook, J., Handley, C. J., Posthumus, M., Collins, M. and September, A. V. (2016) The MMP3 gene in musculoskeletal soft tissue injury risk profiling: a study in two independent sample groups. Journal of Sports Sciences. 35(7), pp. 655-662. 0264-0414.

2014

• El Khoury, L., Posthumus, M., Collins, M., Ribbans, W. J. and Raleigh, S. M. (2014) 82 The COL5A1 gene and risk of Achilles tendon pathology in a British cohort. British Journal of Sports Medicine. 48(Supp 2), A54. 0306-3674.
• El Khoury, L., Ribbans, W. J. and Raleigh, S. M. (2014) 84 TIMP2 and GDF-5 gene variants and achilles tendon pathology: replication study in a British case-control population. British Journal of Sports Medicine. 48(Supp 2), A55. 0306-3674.

2013

• El Khoury, L., Posthumus, M., Collins, M., Handley, C. J., Cook, J. and Raleigh, S. M. (2013) Polymorphic variation within the ADAMTS2, ADAMTS14, ADAMTS5, ADAM12 and TIMP2 genes and the risk of Achilles tendon pathology: A genetic association study. Journal of Science and Medicine in Sport. 16(6), pp. 493-498. 1878-1861.
• El Khoury, L., Posthumus, M., Collins, M., Handley, C. J., Cook, J. and Raleigh, S. M. (2013) Polymorphic variation within the ADAMTS2, ADAMTS14, ADAMT55, ADAM12 and TIMP2 genes and the risk of Achilles tendon pathology. Invited Presentation presented to: 18th Annual Congress of the European College of Sport Science (ECSS), Barcelona, Spain, 26-29 June 2013. (Unpublished)
• Raleigh, S. M., Posthumus, M., O'Cuinneagain, D., van der Merwe, W. and Collins, M. (2013) The GDF5 gene and anterior cruciate ligament rupture. International Journal of Sports Medicine. 34(4), pp. 364-367. 0172-4622.
• Rickaby, R. and Raleigh, S. M. (2013) Variations within the COL5A1 and ADAM8 genes does not associate with Achilles tendon pathology. Invited Presentation presented to: 18th Annual Congress of the European College of Sport Science (ECSS), Barcelona, Spain, 26-29 June 2013. (Unpublished)

2012

• El Khoury, L., Posthumus, M., Collins, M., Handley, C. J., Cook, J., Raleigh, S. M. and Ribbans, W. J. (2012) The Elastin and Fibrillin2 genes and the risk of Achilles tendon pathology. Poster presented to: XXXII International Federation of Sports Medicine (FIMS) World Congress of Sports Medicine, Rome, 27-30 September 2012. (Unpublished)
• El Khoury, L., Posthumus, M., Collins, M., Ribbans, W. J., Handley, C. J. and Cook, J. (2012) The ADAMTS5, ADAM12 and TIMP2 genes and the risk of Achilles tendon pathology. Invited Presentation presented to: International Convention on Science, Education and Medicine in Sport (ICSEMIS 2012), Glasgow, 19-24 July 2012. (Unpublished)
• Posthumus, M., Collins, M., van der Merwe, L., O'Cuinneagain, D., van der Merwe, W., Ribbans, W. J., Schwellnus, M. P. and Raleigh, S. M. (2012) Matrix metalloproteinase genes on chromosome 11q22 and the risk of anterior cruciate ligament (ACL) rupture. Scandinavian Journal Of Medicine & Science In Sports. 22(4), pp. 523-533. 1600-0838 (online), 0905-7188 (print).
• Raleigh, S. M. and Collins, M. (2012) Gene variants that predispose to Achilles tendon injuries: an update on recent advances. In: Cretnik, A. (ed.) Achilles Tendon. Online: InTech. pp. 25-40.

2011

• 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.
• Posthumus, M., Collins, M., van der Merwe, L., O'Cuinneagain, D., van der Merwe, W., Ribbans, W. J., Schwellnus, M. P. and Raleigh, S. M. (2011) Matrix Metalloproteinase genes on chromosome 11q22 and the risk of anterior cruciate ligament (ACL) rupture. Invited Presentation presented to: International Olympic Committee (IOC) World Conference on Prevention of Injury & Illness in Sport, Grimaldi Forum, Monte Carlo, Monaco, 07–09 April 2011. Also presented at: 8th Biennial International Society of Arthroscopy, Knee Surgery & Orthopaedic Sports Medicine (ISAKOS) Congress, Rio de Janeiro, Brazil, 15-19 May 2011. (Unpublished)

2010

• Posthumus, M., Collins, M., Cook, J., Handley, C. J., Ribbans, W. J., Smith, R. K., Schwellnus, M. P. and Raleigh, S. M. (2010) Components of the transforming growth factor-beta family and the pathogenesis of human Achilles tendon pathology--a genetic association study. Rheumatology. 49(11), pp. 2090-2097. 1462-0324.
• Posthumus, M., Collins, M., Cook, J., Handley, C. J., Ribbans, W. J., Smith, R. K. W., Schwellnus, M. P. and Raleigh, S. M. (2010) The GDF5 and TGFB1 genes and Achilles tendinopathy and Achilles tendon rupture. Invited Presentation presented to: International Scientific Tendinopathy Symposium, Umea, Sweden, 30 September - 01 October 2010. (Unpublished)
• Posthumus, M., Collins, M., van der Merwe, L., O'Cuinneagain, D., Ribbans, W. J., Schwellnus, M. P. and Raleigh, S. M. (2010) Variation within growth factor genes and the risk of anterior cruciate ligament (ACL) rupture. Invited Presentation presented to: 4th Clinical Sports Medicine Conference: Injury Prevention and Protection of the Health of the Athlete, Cape Town, South Africa, 13-15 October 2010. (Unpublished)
• Posthumus, M., Raleigh, S. M., Ribbans, W. J., Schwellnus, M. P. and Collins, M. (2010) A functional variant within the MMP3 gene does not associate with human range of motion. Journal of Science and Medicine in Sport. 13(6), pp. 630-632. 1440-2440.
• Raleigh, S. M. (2010) Possible epigenomic factors that might predispose to musculoskeletal soft tissue injury and pathology. Invited Presentation presented to: 4th Clinical Sports Medicine Conference: Injury Prevention and Protection of the Health of the Athlete, Cape Town, South Africa, 13-15 October 2010. (Unpublished)
• Raleigh, S. M. (2010) Sequence variation within the Matrix Metalloproteinase genes and predisposition to muscuskeletal soft tissue injury and pathology. Invited Presentation presented to: 4th Clinical Sports Medicine Conference: Injury Prevention and Protection of the Health of the Athlete, Cape Town, South Africa, 13-15 October 2010. (Unpublished)

2009

• Collins, M. and Raleigh, S. M. (2009) Genetic risk factors for musculoskeletal soft tissue injuries. Medicine and Sports Science. 54, pp. 136-149. 0254-5020.
• Collins, M., Raleigh, S. M., van der Merwe, L., Ribbans, W. J., Smith, R. and Schwellnus, M. P. (2009) Variants within the MMP3 gene are associated with Achilles tendinopathy. Paper presented to: 13th Meeting of the South African Society for Human Genetics Conference, Stellenbosch, South Africa, 5-8 April 2009. (Unpublished)
• Raleigh, S. M., van der Merwe, L., Ribbans, W. J., Smith, R. K., Schwellnus, M. P. and Collins, M. (2009) Variants within the MMP3 gene are associated with achilles tendinopathy: possible interaction with the COL5A1 gene. British Journal of Sports Medicine. 43(7), pp. 514-520. 0306-3674.

2008

• Raleigh, S. M., Collins, M., van der Merwe, L., Ribbans, W. J., Smith, R. K. and Schwellnus, M. P. (2008) Variants within the MMP3 gene and Achilles tendinopathy. Invited Presentation presented to: XXX International Federation of Sports Medicine (FIMS) World Congress of Sports Medicine, Barcelona, 18-23 November 2008. (Unpublished)
• Tobin, M. D., Tomaszewski, M., Braund, P., Hajat, C., Raleigh, S. M., Palmer, T. M., Caulfield, M., Burton, P. R. and Samani, N. J. (2008) Common variants in genes underlying monogenic hypertension and hypotension and blood pressure in the general population. Hypertension. 51(6), pp. 1658-1664. 1524-4563.

2007

• Ekberg, M. E. (2007) The old eugenics and new genetics compared. Social History of Medicine. 20(3), pp. 581-593. 1477-4666.

2006

• Ekberg, M. E. (2006) Genetic expectations. International Journal of Science and Research. 2(1), pp. 41-48. 1832-1011.

2005

• Raleigh, S. M. (2005) A genomewide linkage study of 1,933 families affected by premature coronary artery disease: The British Heart Foundation (BHF) Family Heart Study. The American Journal of Human Genetics. 77(6), pp. 1011-1020. 1537-6605.
• 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.

2004

• Tobin, M. D., Sheehan, N. A., Raleigh, S. M., Samani, N. J. and Burton, P. R. (2004) Characterising phenotype in genetic studies of blood pressure. Invited Presentation presented to: American Society of Human Genetics (ASHG) Annual Meeting, Toronto, Canada, 2004. (Unpublished)