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Nataatmadja, M., West, M., West, J., Summers, K., Walker, P., Nagata, M. and Watanabe, T. (2003) Abnormal extracellular matrix protein transport associated with increased apoptosis of vascular smooth muscle cells in Marfan syndrome and bicuspid aortic valve thoracic aortic aneurysm. Circulation, 108 10: 329-334. doi:10.1161/01.cir.0000087660.82721.15 515   128 Cited 162 times in Scopus162 0
Nataatmadja, M. I., Walker, P. J., Dique, T., Summers, K. M. and West, M. J. (1999). Alteration of extracellular matrix synthesis by fibroblasts as a marker in abdominal aortic aneurysm. In: Royal Brisbane Hospital Health Care Symposium. Royal Brisbane Hospital Health Care Symposium, Westpac Auditorium Bancroft Cen., QIMR, Brisbane, (62). 21 - 27 Oct, 1999. 52  
Nataatmadja, M., West, M., West, J., Millar, C., Summers, K. and Walker, P. (2004). Altered cellular distribution of alpha-v beta-3 integrin expression and lack of inflammatory response in marfan syndrome and bicuspid aortic valve aortic aneurysm. In: A. I. Gotlieb, Cardiovascular Pathology. XIIIth International Vascular Biology Meeting 2004, Toronto, Canada, (S135-S135). 1-5 Jun, 2004. 78  
Summers, K. M., West, J. A., Huggard, P. R. and West, M. J. (1993) Angiotensin-Converting Enzyme and Regulation of Blood-Pressure in a Large Australian Family. Clinical and Experimental Pharmacology and Physiology, 20 5: 320-323. doi:10.1111/j.1440-1681.1993.tb01694.x 38   14 0
Summers, K. M., Xu, D., West, J. A., McGill, J. J., Galbraith, A., Whight, C. M., Brocque, S. L., Nataatmadja, M., Kong, L. K., Dondey, J., Stark, D. and West, M. J. (2004) An integrated approach to management of Marfan syndrome caused by an FBN1 exon 18 mutation in an Australian Aboriginal family. Clinical Genetics, 65 1: 66-69. doi:10.1111/j..2004.00186.x 110   7 Cited 7 times in Scopus7 0
Summers, Kim M., Withers, Stephen J., Gole, Glen A., Piras, Sara and Taylor, Peter J. (2008) Anterior segment mesenchymal dysgenesis in a large Australian family is associated with the recurrent 17 bp duplication in PITX3. Molecular Vision, 2008 237: 2010-2015. 74   12 Cited 13 times in Scopus13
Huggard, P. R., Summers, K. M., West, J. and West, M. J. (1997). Association analysis of six candidate genes in a sample of Australian hypertensive patients. In: Clinical and Experimental Pharmacology and Physiology. 18th Annual Scientific Meeting of the High Blood Pressure Research Council of Australia, Melbourne, Australia, (454-456). December 1996. doi:10.1111/j.1440-1681.1997.tb01224.x 45   2 Cited 2 times in Scopus2 0
Withers, S., Summers, K. M. and Gole, G. A. (1999) Autosomal dominant cataracts and Peters anomaly in a large Australian family. Clinical Genetics, 55 4: 240-247. doi:10.1034/j.1399-0004.1999.550405.x 138   12 Cited 18 times in Scopus18 0
Summers, Kim M., West, Jennifer A., Peterson, Madelyn M., Stark, Denis, McGill, James J. and West, Malcolm J. (2006) Challenges in the diagnosis of Marfan syndrome. Medical Journal of Australia, 184 12: 627-631. 177   17 Cited 18 times in Scopus18
Nataatmadja, M. I., Walker, P. J., Dique, T., Summers, K. M. and West, M. J. (1999). Evidence for the presence of abdominal aortic aneurysm subtypes characterised using histopathological approaches. In: The Development and Maintenance of the Vascular System. 7th Annual Scientific Meeting of the Australian Vascular Biology Society, Adelaide, S. Aust., (11-11). 16 - 19 September 1999. 106  
Summers, Kim M., Bokil, Nilesh J., Baisden, John M., West, Malcolm J., Sweet, Matthew J., Raggatt, Liza J. and Hume, David A. (2009) Experimental and bioinformatic characterisation of the promoter region of the Marfan syndrome gene, FBN1. Genomics, 94 4: 233-240. doi:10.1016/j.ygeno.2009.06.005 87   12 Cited 11 times in Scopus11 0
Nicolae, M, Summers, KM and Radford, DJ (2007) Familial muscular ventricular septal defects and aneurysms of the muscular interventricular septum. Cardiology In The Young, 17 5: 523-527. doi:10.1017/S1047951107000996 92   4 Cited 5 times in Scopus5 0
Summers, K. M. and Macmillan, J. (1999). Genetic education for populace and profession. In: 23rd Annual Scientific Meeting of the Human Genetics Society of Australasia & 13th Annual Scientific Meeting of the Australasian Society for Inborn Errors of Metabolism. Genetics into the New Millennium, EventSite, Aust. Technology Park, Sydney, (). 30 Aug - 2 Sept, 1999. 30  
Summers, K. M., Nataatmadja, M., Xu, D., West, M. J., McGill, J. J., Whight, C., Colley, A. and Ades, L. C. (2005) Histopathology and fibrillin-1 distribution in severe early onset Marfan syndrome. American Journal of Medical Genetics Part A, 139A 1: 2-8. doi:10.1002/ajmg.a.30981 72   3 Cited 4 times in Scopus4 0
Pavli, P. and Summers, K.M. (2008) Identifying susceptibility to inflammatory bowel diseases: A candidate gene approach, genome-wide association studies, or both?. Journal Gastroenterology and Hepatology, 23 1: 6-7. doi:10.1111/j.1440-1746.2007.05237.x 42   1 Cited 1 times in Scopus1 0
Dique, T., Walker, P. J., Frydman, G., Lightfoot, T., West, M. J., Summers, K. M., Xu, D. and Nataatmadja, M. I. (1999). Is screening of siblings of AAA patients justified?. In: Proceedings of the Royal Brisbane Hospital Health Care Symposium. Royal Brisbane Hospital Health Care Symposium, Brisbane, Australia, (62-62). 21-27 October, 1999. 109  
Summers, Kim M., Fletcher, Barbara H., Macaranas, Daphne D., Somodevilla-Torres, Maria J., Murphy, Rachel M., Osborne, Michael J., Spurr, Nigel K., Cassady, A. Ian and Cavanagh, Alice C. (1999) Mapping and characterization of the eukaryotic early pregnancy factor/chaperonin 10 gene family. Somatic Cell and Molecular Genetics, 24 6: 315-326. doi:10.1023/A:1024488422990 36   3 Cited 5 times in Scopus5 0
Summers, Kim M., Bokil, Nilesh J., Lu, Foong Teng, Low, Jiun Tsuen, Baisden, John M., Duffy, David and Radford, Dorothy J. (2010) Mutations at KCNQ1 and an unknown locus cause long QT syndrome in a large Australian family: Implications for genetic testing. American Journal of Medical Genetics. Part A, 152A 3: 613-621. doi:10.1002/ajmg.a.33274 61   1 Cited 3 times in Scopus3 0
Summers, K and Hume, D A (2006). Structure and function of mammalian fibrillin genes. In: 11th International Congress of Human Genetics. 11th International Congress of Human Genetics, Brisbane, (Abstract). 6-10 Aug, 2006. 35  
Summers, K. (2006). Teaching principles of genetics through SNP analysis. In: 11th International Congress of Human Genetics, Brisbane, Australia, (). 6-10 August 2006. 88  
Fletcher, Barbara H., Cassady, A. Ian, Summers, Kim M. and Cavanagh, Alice C. (2001) The murine chaperonin 10 gene family contains an intronless, putative gene for early pregnancy factor, Cpn10-rs1. Mammalian Genome, 12 2: 133-140. doi:10.1007/s003350010250 52   5 Cited 5 times in Scopus5 0
Frydman, G., Walker, P. J., Summers, K., West, M., Xu, D., Lightfoot, T., Codd, C., Dique, T. and Nataatmadja, M. (2003) The value of screening in siblings of patients with abdominal aortic aneurysm. European Journal of Vascular And Endovascular Surgery, 26 4: 396-400. doi:10.1016/S1078-5884(03)00316-2 107   23 Cited 28 times in Scopus28 0
Davis, Margaret R., Andersson, Robin, Severin, Jessica, de Hoon, Michiel, Bertin, Nicolas, Baillie, J. Kenneth, Kawaji, Hideya, Sandelin, Albin, Forrest, Alistair R.R. and Summers, Kim M. (2014) Transcriptional profiling of the human fibrillin/LTBP gene family, key regulators of mesenchymal cell functions. Molecular Genetics and Metabolism, 112 1: 73-83. doi:10.1016/j.ymgme.2013.12.006 15   0 Cited 1 times in Scopus1 2
Nataatmadja, M., West, M., West, J., Millar, C., Summers, K. and Walker, P. (2004). Vascular smooth muscle cell and skin fibroblast properties in aortic aneurysm associated with bicuspid aortic valve or marfan syndrome: identification of localised versus systemic abnormalities.. In: J. W. Butany and A. I. Gotlieb, Cardiovascular Pathology. XIIIth International Vascular Biology Meeting 2004, Toronto, Canada, (S19-S19). 1-5 Jun, 2004. 110  
McInerney-Leo, Aideen M., Marshall, Mhairi S., Gardiner, Brooke, Coucke, Paul J., Van Laer, Lut, Loeys, Bart L., Summers, Kim M., Symoens, Sofie, West, Jennifer A., West, Malcolm J., Wordsworth, B. Paul, Zankl, Andreas, Leo, Paul J., Brown, Matthew A. and Duncan, Emma L. (2013) Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome. BoneKEy Reports, 2 456: 1-9. doi:10.1038/bonekey.2013.190 43 2 0