Bibliography
Bowen, J., Tocher, J. (2016) Vascular Ehlers-Danlos syndrome. Available at: https://www.ehlers-danlos.org/information/vascular-ehlers-danlos-syndrome/ (Accessed: 03 November 2018).
Ehlers-Danlos Support UK (unknown). Available at: https://www.ehlers-danlos.org/ (Accessed: 24 October 2018)
Germain, D.P. (2007) Ehlers-Danlos syndrome type IV, Oprhanet Journal of Rare Diseases, 2(32). Available at: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1971255/ (Accessed: 12 Novermber 2018)
Pepin, M., Murray, M. and Byers, P. (1999) [Updated 2015] ‘Vascular Ehlers-Danlos Syndrome’, GeneReviews. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1494/ (Accessed: 4 November 2018).
NHS (2016) Ehlers-Danlos Syndromes. Available at: https://www.nhs.uk/conditions/ehlers-danlos-syndromes/ (Accessed: 24 October 2018)
Genetic and Rare Diseases Information Centre (unknown) Vascular Ehlers-Danlos Syndrome. Available at: https://rarediseases.info.nih.gov/diseases/2082/vascular-ehlers-danlos-syndrome (Accessed: 14 November 2018)
Malfait, F., Francomano, C., Byers, P., Belmont, J., Berglund, B., Black, J., Bloom, L., Bowen, J.M., Brady, A.F., Burrows, N.P., Castori, M., Cohen, H., Colombi, M., Demirdas, S., De Backer, J., De Paepe, A., Fournel‐Gigleux, S., Frank, M., Ghali, N., Giunta, C., Grahame, R., Hakim, A., Jeunemaitre, X., Johnson, D., Juul‐Kristensen, B., Kapferer‐Seebacher, I., Kazkaz, H., Kosho, T., Lavallee, M.E., Levy, H., Mendoza‐Londono, R., Pepin, M., Pope, F.M., Reinstein, E., Robert, L., Rohrbach, M., Sanders, L., Sobey, G.J., Van Damme, T., Vandersteen, A., van Mourik, C., Voermans, N., Wheeldon, N., Zschocke, J. and Tinkle, B. (2017) ‘The 2017 international classification of the Ehlers–Danlos syndromes’, American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 175(1), pp 8-26. Available at: https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.c.31552 (Accessed: 12 November 2018)
Byers, P., Belmont, J., Black, J., De Backer, J., Frank, M., Jeunemaitre, X., Johnson, D., Pepin, M., Robert, L., Sanders, L. and Wheeldon, N. (2017) ‘Diagnosis, natural history, and management in vascular Ehlers–Danlos syndrome’, American Journal of Medical Genetics Part C (Seminars in Medical Genetics), 175(1), pp 40-47. Available at: https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.c.31553 (Accessed: 12 November 2018)
Pepin, M., Schwarze, U., Superti-Furga, A. and Byers, P. (2000) ‘Clinical and Genetic Features of Ehlers–Danlos Syndrome Type IV, the Vascular Type’. The New England Journal of Medicine, 342, pp. 673-680. Available at: https://www.nejm.org/doi/full/10.1056/NEJM200003093421001 (Accessed: 13 November 2018)
Annabelles Challenge (2018) Vascular EDS. Available at: https://www.annabelleschallenge.org/vascular-eds/ (Accessed: 7 November 2018)
Shalhub, S., Black, J., Cecchi, A., Xu, Z., Griswold, B.F., Safi, J., Milewicz, D.M., McDonnell, N.B. (2014) ‘Molecular diagnosis in Vascular Ehlers-Danlos Syndrome Predicts Pattern of Arterial Involvement and Outcomes’, Journal of vascular surgery, 60(1). Available at: https://www.researchgate.net/publication/260995823_Molecular_diagnosis_in_Vascular_Ehlers-Danlos_Syndrome_Predicts_Pattern_of_Arterial_Involvement_and_Outcomes (Accessed: 16 November 2018)
Beighton, P. De Paepe, A. Steinmann, B. Tsipouras, P. Wenstrup, R.J. (1998) ‘Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK).’, Am J Med Genet. 77(1):31-7.
Byers, P.H. (1994), ‘Ehlers-Danlos Syndrome: Recent Advances and Current Understanding of the Clinical and Genetic Heterogeneity’. J Invest Dermatol. 103(5 Suppl):47S-52S.
Medizinische Universität Innsbruck (unknown), Ehlers-Danlos. Available at http://www.p-eds.org/ehlers-danlos/ (Accessed : 18 November 2018)
Laferrier, J.Z. Muldowney, K. Muldowney, K. (2018), ‘A Novel Exercise Protocol for Individuals with Ehlers Danlos Syndrome: A Case Report’ J Nov Physiother. 8(2): 382
Brazzaventre, C. Celletti, C. Gobattoni, P. Santilli, V., Camerota, F. (2013) ‘The Ehlers-Danlos syndrome: history of a clinical hendiadys’, Medicina nei Secoli, 25(2) pp. 491-501.
Whonamedit (unknown), Ehlers-Danlos Syndrome. Available at http://www.whonamedit.com/synd.cfm/2017.html (Accessed : 18 November 2018)
Denko, C. W. (1978), ‘Chernogubov's syndrome: a translation of the first modern case report of the Ehlers-Danlos syndrome.’, J Rheumatol, 5(3):347-52.
Parapia, L.A. Jackson, C.(2008), ‘Ehlers‐Danlos syndrome – a historical review’, Br J Haematol., 141(1):32-5.
Laferrier, J.Z. Muldowney, K. Muldowney, K. (2018), ‘A Novel Exercise Protocol for Individuals with Ehlers Danlos Syndrome: A Case Report’, J Nov Physiother, 8(2): 382
Pepin, M.G. Murray, M.L., Byers, P.H. (1999), ‘Vascular Ehlers-Danlos Syndrome’, Gene Reviews [Internet]
Johnson, M.D. Falls H.F. (1949), ‘Ehlers-Danlos Syndrome. A Clinical and Genetic Study.’, Arch Derm Syphilol, 60(1):82-105.
Nicholls, A.C. De Paepe, A.Narcisi, P. Dalgleish, R. De Keyser, F. Matton, M. Pope, F.M. (1988), ‘Linkage of a polymorphic marker for the type III collagen gene (COL3A1) to atypical autosomal dominant Ehlers-Danlos syndrome type IV in a large Belgian pedigree’, Human Genetics, 78, 3:276–281
Jørgensen, A. Fagerheim, T. Rand-Hendriksen, S. Lunde, P. I. Vorren, T. O. Pepin, M. G. Leistritz, D. F. Byers, P. H. (2014), ‘Vascular Ehlers-Danlos Syndrome in siblings with biallelic COL3A1 sequence variants and marked clinical variability in the extended family.’ European journal of human genetics, 23(6), 796-802.
Plancke, A. Holder-Espinasse, M. Rigau, V. Manouvrier, S. Claustres, M. Khau Van Kien, P. (2009), ‘Homozygosity for a null allele of COL3A1 results in recessive Ehlers-Danlos syndrome.’ European journal of human genetics, 17(11), 1411-6.
Rafique M. (2008) Connective Tissues Fibers and Ground Substance. Available at https://slideplayer.com/slide/6075827/ (Accessed : 18 November 2018)
Wikipedia (2018) Reticular fiber. Available at https://en.wikipedia.org/w/index.php?title=Reticular_fiber&oldid=821571115 (Accessed : 18 November 2018)
Wikipedia (2018) Collagen. Available at https://en.wikipedia.org/w/index.php?title=Collagen&oldid=868519397 (Accessed : 18 November 2018)
Orphanet (2018). COL3A1 - collagen type III alpha 1 chain. Available at https://www.orpha.net/consor/cgi-bin/Disease_Genes.php?lng=EN&data_id=15770&MISSING%20CONTENT=collagen-type-III-alpha-1-chain&search=Disease_Genes_Simple&title=collagen%20type%20III%20alpha%201%20chain (Accessed : 18 November 2018)
Mao, J.R. Bristow, J. (2001), ‘The Ehlers-Danlos syndrome: on beyond collagens’, J Clin Invest. 107(9): 1063–1069.
NHS (2016). Ehlers-Danlos syndromes. Available at https://www.nhs.uk/conditions/ehlers-danlos-syndromes/ (Accessed : 18 November 2018)
Leeming D.J. Karsdal M.A. (2016) Biochemistry of Collagens, Laminins and Elastin : Structure, Function and Biomarkers. Academic Press.
Dalgleish R. (2014). Collagen, type V, alpha 1 (COL5A1). Available at https://eds.gene.le.ac.uk/variants.php?select_db=COL5A1&action=search_all&order=pathogenic_%2CASC&hide_col=&show_col=&limit=100&search_pathogenic_=&search_Variant%2FExon=&search_Variant%2FDNA=&search_Variant%2FDbSNP=&search_Variant%2FType=&search_Variant%2Fmutation_type=&search_Variant%2FProtein=&search_Variant%2FRNA=&search_Variant%2FRestriction_site=&search_Variant%2FFrequency=&search_Variant%2FDBID=&search_Patient%2FPatient_ID=&search_Patient%2FPhenotype%2FDisease=Vascular+EDS&search_Patient%2FReference=&search_Patient%2FDetection%2FTemplate=&search_Patient%2FDetection%2FTechnique=&search_Patient%2FRemarks=&search_Patient%2FOrigin%2FEthnic= (Accessed : 18 November 2018)
Collins H. (2014) If you can’t connect the issues, think connective tissues. Available at https://www.ehlers-danlos.com/2014-annual-conference-files/Heidi%20Collins.pdf (Accessed : 18 November 2018)
Jansen, L.H. (1955), ‘The Structure of the Connective Tissue, an Explanation of the Symptoms of the Ehlers-Danlos Syndrome’, Dermatologica, 110, 108
Johnson, M.D. Falls H.F. (1949), ‘Ehlers-Danlos Syndrome. A Clinical and Genetic Study.’, Arch Derm Syphilol, 60(1):82-105.
Mao, J.R. Bristow, J. (2001), ‘The Ehlers-Danlos syndrome: on beyond collagens’, J Clin Invest. 107(9): 1063–1069.
Leeming D.J. Karsdal M.A. (2016) Biochemistry of Collagens, Laminins and Elastin : Structure, Function and Biomarkers. Academic Press.
Superti-Furga, A. Gugler, E. Gitzelmann, R. Steinmann, B.(1988), ‘Ehlers-Danlos syndrome type IV: a multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagen.’, J Biol Chem. 263(13):6226-32.
Plancke, A. Holder-Espinasse, M. Rigau, V. Manouvrier, S. Claustres, M. Khau Van Kien, P. (2009), ‘Homozygosity for a null allele of COL3A1 results in recessive Ehlers-Danlos syndrome.’ European journal of human genetics, 17(11), 1411-6.
Dalgleish R. (2014). COL3A1. Available at https://eds.gene.le.ac.uk/home.php?select_db=COL3A1
Dalgleish, R. (2018) Interview with Claire Baudelet, 16 November.
Branden, Carl, and Tooze, John (1999). Introduction to Protein Structure , 2nd edition. New York: Garland Publishing.
Meyers, Robert A., ed. (1995). Molecular Biology and Biotechnology: A Comprehensive Desk Reference. New York: VCH.
Mao, J.R. Bristow, J. (2001), ‘The Ehlers-Danlos syndrome: on beyond collagens’, J Clin Invest. 107(9): 1063–1069.
Pepin, M.G. Murray, M.L., Byers, P.H. (1999), ‘Vascular Ehlers-Danlos Syndrome’, Gene Reviews [Internet]
Pepin M, Schwarze U, Superti-Furga A, Byers P. Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type. N Engl J Med. 2000;342:673–680.
Szpak, Paul (2011). "Fish bone chemistry and ultrastructure: implications for taphonomy and stable isotope analysis". Journal of Archaeological Science. 38 (12): 3358–3372.
Nelson, D. L. and Cox, M. M. (2005) Lehninger's Principles of Biochemistry, 4th Edition, W. H. Freeman and Company, New York.
