Literatursammlung

Literatursammlung

Auf dieser Seite steht eine umfangreiche Literatursammlung zu den Ehlers-Danlos-Syndromen und möglichen Komorbiditäten (Begleiterkrankungen) zur Verfügung. Die Präsentationen und Publikationen sind nach Fachgebieten sortiert. Mit einem Klick auf das Fachgebiet gelangt man zu den verlinkten Dokumenten. Es handelt um einen Linksammlung, die im Internet verfügbare Informationen aus verschiedenen Quellen einfacher auffindbar machen soll. Die Artikel bzw. Präsentationen sind entweder frei verfügbar oder die Genehmigung der Autoren / der Verlage liegt vor, das Medium auf dieser Homepage zur Verfügung zu stellen. 

hier geht es zur Literaturliste

Inhaltsverzeichnis

lfd. Nr. How to cite Zeitpunkt der Veröffentlichung
Allgemein
Praesentationen
A_Prae01 Doherty D (2016). Pharmacogenetic Testing to Assess Altered Drug Metabolism: Struggling with medications? This may help. Abgerufen von https://drive.google.com/file/d/0Bxk_ErqWO4kcTzExeG1fSHAyY2c/view 2016
Hypermobiles EDS
Praesentationen
A_heds_Prae01 Castori M (2016). Multidisciplinary Diagnostic and Management Approach to the Ehlers-Danlos Patient. Abgerufen von https://drive.google.com/file/d/0Bxk_ErqWO4kcaGw2ZHNUR3FzcVk/view 2016
Publikationen
A_heds01 Rodgers, K. R. et al. Ehlers-Danlos syndrome hypermobility type is associated with rheumatic diseases. Sci. Rep. 7, 39636; doi: 10.1038/srep39636 (2017). 2017
A_heds02 Levy HP. Hypermobile Ehlers-Danlos Syndrome. 2004 Oct 22 [Updated 2018 Jun 21]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1279/ 2018
A_heds03 Gazit Y, Jacob G, Grahame R. Ehlers–Danlos Syndrome—Hypermobility Type: A Much Neglected Multisystemic Disorder. Rambam Maimonides Med J 2 016;7 (4):e0034. doi:10.5041/RMMJ.10261 Review 2016
A_heds05 Castori (2012). Ehlers-Danlos Syndrome, Hypermobility Type: An Underdiagnosed Hereditary Connective Tissue Disorder with Mucocutaneous, Articular, and Systemic Manifestations, International Scholarly Research Network ISRN Dermatology (2012), doi:10.5402/2012/751768 2012
A_heds06 Hamonet C, Brock I, Pommeret St, Pommeret S, Amoretti R, Beeza-Velasco C & Metlaine A (2017). Ehlers-Danlos syndrome (EDS) type III (hypermobile): validation of a somatosensory clinical scale (ECSS-62), involving 626 patients. Bull. Acad. Natle Méd., 2017, 201, n°2. 2017
A_heds07 Ehlers Danlos Support UK Koordinator (2017). Hypermobile Ehlers-Danlos Syndrome. Journal of Medicines Optimisation • Volume 3 • Issue 2 2017
A_heds08
A_heds09 Sturm, K.U. & Bohn, MF. J. Miner. Stoffwechs. Muskuloskelet. Erkrank. (2019). https://doi.org/10.1007/s41970-019-0058-5 2019
Publikationen aus anderen Verzeichnissen
Sy06 Tinkle B, Castori M, Berglund B, Cohen H, Grahame R, Kazkaz H, Levy H (2017). Hypermobile Ehlers–Danlos syndrome (a.k.a. Ehlers–Danlos syndrome Type III and Ehlers–Danlos syndrome hypermobility type): Clinical description and natural history. Am J Med Genet Part C Semin Med Genet 175C:48–69. 2017
Sonstiges
Hypermobility spectrum disorders
Publikationen
A_hsd01 Juul-Kristensen, B., Østengaard, L., Hansen, S., Boyle, E., Junge, T., Hestbaek, L (2017). Generalised joint hypermobility and shoulder joint hypermobility, – risk of upper body musculoskeletal symptoms and reduced quality of life in the general population. BMC Musculoskelet Disord. 2017; 18: 226. 2017
Publikationen aus anderen Verzeichnissen
Sy09 Castori M, Tinkle B, Levy H, Grahame R, Malfait F, Hakim A. 2017. A framework for the classification of joint hypermobility and related conditions. Am J Med Genet Part C Semin Med Genet 175C:148–157. 2017
klassisches EDS
Publikationen
A_ceds01 Ritelli et al.: Clinical and molecular characterization of 40 patients with classic Ehlers–Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations. Orphanet Journal of Rare Diseases 2013 8:58. 2013
A_ceds02 Symoens S, Malfait F, Vlummens P, Hermanns-Leˆ T, Syx D, et al. (2011) A Novel Splice Variant in the N-propeptide of COL5A1 Causes an EDS Phenotype with Severe Kyphoscoliosis and Eye Involvement. PLoS ONE 6(5): e20121. doi:10.1371/journal.pone.0020121 2011
A_ceds03 Malfait F, Wenstrup R, De Paepe A. Classic Ehlers-Danlos Syndrome. 2007 May 29 [Updated 2018 Jul 26]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1244/ 2018
A_ceds04 Nielsen, Rie & Holm, Lars & Jensen, Jacob & Heinemeier, Katja & Remvig, Lars & Kjaer, Michael. (2014). Tendon protein synthesis rate in classic Ehlers-Danlos patients can be stimulated with insulin-like growth factor-I. Journal of applied physiology (Bethesda, Md. : 1985). 117. 10.1152/japplphysiol.00157.2014. 2014
A_ceds05 Paladin L, Tosatto SC, Minervini G (2015). Structural in silico dissection of the collagen V interactome to identify genotype-phenotype correlations in classic Ehlers-Danlos Syndrome (EDS). FEBS Lett. 2015 Dec 21;589(24 Pt B):3871-8. doi: 10.1016/j.febslet.2015.11.022. 2015
A_ceds06 Nielsen, R. H., Couppé, C., Jensen, J. K., Olsen, M. R., Heinemeier, K. M., Malfait, F., ... Kjær, M. (2014). Low tendon stiffness and abnormal ultrastructure distinguish classic Ehlers-Danlos syndrome from benign joint hypermobility syndrome in patients. FASEB journal : official publication of the Federation of American Societies for Experimental Biology, 28(11), 4668-4676. https://doi.org/10.1096/fj.14-249656 2014
Publikationen aus anderen Verzeichnissen
Sy04 Bowen JM, Sobey GJ, Burrows NP, Colombi M, Lavallee ME, Malfait F, Francomano CA (2017). Ehlers–Danlos syndrome, classical type. Am J Med Genet Part C Semin Med Genet 175C:27–39. 2017
Übergeordnete Themen
Praesentationen
A_ue_Prae01 Hamonet C, Brock I, Cypel D & Baeza-Velasco C (2015). Joint limitations of lower limbs are also a sign of Ehlers-Danlos syndrome (EDS). Results with 252 patients. Abgerufen von http://claude.hamonet.free.fr/shared/eds-brazil-poster.pdf 2015
Publikationen
A_ue01 Rohini H Terry, Shea T Palmer, Katharine A Rimes, Carol J Clark, Jane V Simmonds, Jeremy P Horwood; Living with joint hypermobility syndrome: patient experiences of diagnosis, referral and self-care, Family Practice, Volume 32, Issue 3, 1 June 2015, Pages 354–358, https://doi.org/10.1093/fampra/cmv026 2015
A_ue02 Meester, Josephina & Verstraeten, Aline & Schepers, Dorien & Alaerts, Maaike & Van Laer, Lut & Loeys, Bart. (2017). Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome. ASVIDE. 4. 544-544. 10.21037/asvide.2017.544. 2014
A_ue03 Marie-Louise Kulas Søborg, Julie Leganger, Laura Quitzau Mortensen, Jacob Rosenberg, Jakob Burcharth; Establishment and baseline characteristics of a nationwide Danish cohort of patients with Ehlers–Danlos syndrome, Rheumatology, Volume 56, Issue 5, 1 May 2017, Pages 763–767, https://doi.org/10.1093/rheumatology/kew478 2017
A_ue04 Sulli A, Talarico R, Scirè CA, et al Ehlers-Danlos syndromes: state of the art on clinical practice guidelines RMD Open 2018;4:e000790. doi: 10.1136/rmdopen-2018-000790 2018
Sonstiges
Anästhesie
Publikationen
An01 Carness JM, Lenart MJ (2018). Spinal Anaesthesia for Cesarean Section in a Patient with Vascular Type Ehlers-Danlos Syndrome. Hindawi Case Reports in Anesthesiology Volume 2018, Article ID 1924725, 4 pages 2018
An02 Johnston BA, Occhipinti KE, Baluch A, Kaye AD (2006). Ehlers-Danlos Syndrome: Complications and Solutions Concerning Anesthetic Management. Middle East J Anaesthesiol. 2006 Oct;18(6):1171-84. 2006
An03 Ohshita et al (2016). Anesthetic Management of a Patient With Ehlers-Danlos Syndrome.Anesth Prog. 2016 Winter; 63(4): 204–207 2016
An04 Hakim AJ, Grahame R, Norris P, Hopper C. Local anaesthetic failure in joint hypermobility syndrome. Journal of the Royal Society of Medicine. 2005;98(2):84-85. 2005
An05 Wiesmann et al.: Recommendations for anesthesia and perioperative management in patients with Ehlers-Danlos syndrome(s). Orphanet Journal of Rare Diseases 2014 9:109. 2014
An06 Kumaraswami, Sangeeta & Farkas, Gabriel. (2018). Management of a Parturient with Mast Cell Activation Syndrome: An Anesthesiologist’s Experience. Case Reports in Anesthesiology. 2018. 1-5. 10.1155/2018/8920921. 2018
An07 Pasta, V & D'Orazi, Valerio & Ruggeri, L & Toni, M.F. & Urciuoli, Paolo & Tellan, Guglielmo. (2015). Clinical problems in patient with Ehlers-Danlos syndrome and Multiple Chemical Sensitivity undergoing total thyroidectomy. Il Giornale di Chirurgia. 36. 168-171. 10.11138/gchir/2015.36.4.168. 2015
An08 Cesare AE, Rafer LC, Myler CS & Brennan KB (2019). Anesthetic Management for Ehlers-Danlos Syndrome, Hypermobility Type Complicated by Local Anesthetic Allergy: A Case Report. Am J Case Rep. 2019 Jan 10;20:39-42. doi: 10.12659/AJCR.912799. 2019
Sonstiges
An_ Sons01 Wiesmann, Malfait & Castori (2013). Anesthesia recommendations for patients suffering from Ehlers-Danlos Syndrome. orphananesthesia 1 - 8 2013
An_ Sons02 Wiesmann, Malfait, Castori & Leiterholt (2013). Handlungsempfehlungen zur Anästhesie bei Patienten mit Ehlers-Danlos Syndrom (EDS). orphananesthesia 1 - 8 2013
Blutgerinnung
Publikationen
B01 Busch et al. (2016). Vascular type Ehlers-Danlos syndrome is associated with platelet dysfunction and low vitamin D serum concentration. Orphanet Journal of Rare Diseases (2016) 11:111 2016
B02 Vysniauskaite M, Hertfelder H-J, Oldenburg J, Dreßen P, Brettner S, Homann J, et al. (2015) Determination of Plasma Heparin Level Improves Identification of Systemic Mast Cell Activation Disease. PLoS ONE 10(4): e0124912. doi:10.1371/ journal.pone.0124912 2015
B03 De Paepe A, Malfait F (2004). Bleeding and bruising in patients with Ehlers–Danlos syndrome and other collagen vascular disorders. British Journal of Haematology, 127, 491–500 2004
B04 Jiménez-Encarnación, Esther & M Vilá, Luis. (2013). Recurrent venous thrombosis in Ehlers-Danlos syndrome type III: An atypical manifestation. BMJ case reports. 2013. 10.1136/bcr-2013-008922. 2013
Sonstiges
Chirurgie
Publikationen
C01 Burcharth J, Rosenberg J (2012). Gastrointestinal Surgery and Related Complications in Patients with Ehlers-Danlos Syndrome: A Systematic Review. Dig Surg 2012;29:349–357 2012
C02 Harrison B, Sanniec K, Janis JE (2016). Collagenopathies—Implications for Abdominal Wall Reconstruction: A Systematic Review. Plast Reconstr Surg Glob Open 2016;4:e1036 2016
C03 Kroese, Leonard & H. Mommers, E & Robbens, C & D. Bouvy, N & F. Lange, J & Berrevoet, Frederik. (2018). Complications and recurrence rates of patients with Ehlers-Danlos syndrome undergoing ventral hernioplasty: a case series. Hernia. 22. 10.1007/s10029-018-1739-7. 2018
C04 D Falchook, Aaron & M Zagar, Timothy. (2013). A case report of stereotactic radiosurgery in a patient with Ehlers–Danlos syndrome. Reports of practical oncology and radiotherapy : journal of Greatpoland Cancer Center in Poznań and Polish Society of Radiation Oncology. 18. 241-4. 10.1016/j.rpor.2013.04.027. 2013
Publikationen aus anderen Verzeichnissen
An01 Carness JM, Lenart MJ (2018). Spinal Anaesthesia for Cesarean Section in a Patient with Vascular Type Ehlers-Danlos Syndrome. Hindawi Case Reports in Anesthesiology Volume 2018, Article ID 1924725, 4 pages 2018
Dysautonomie
Publikationen
D01 Grigoriou E, Boris JR, Dormans JP. Postural Orthostatic Tachycardia Syndrome (POTS): Association with Ehlers-Danlos Syndrome and Orthopaedic Considerations. Clinical Orthopaedics and Related Research. 2015;473(2):722-728. doi:10.1007/s11999-014-3898-x. 2015
D02 Celletti et al. (2017). Orthostatic Intolerance and Postural Orthostatic Tachycardia Syndrome in Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome, Hypermobility Type: Neurovegetative Dysregulation or Autonomic Failure?. BioMed Research International Volume 2017, Article ID 9161865, 7 pages 2017
D03 Ruzieh et al. (2017). Effects of intermittent intravenous saline infusions in patients with medication—refractory postural tachycardia syndrome. J Interv Card Electrophysiol. 2017 Apr;48(3):255-260 2017
D04 Mandel D, Askari AD, Malemud CJ, Kaso A (2017) Joint Hypermobility Syndrome and Postural Orthostatic Tachycardia Syndrome (HyPOTS). Biomed Res Clin Prac 2: DOI: 10.15761/BRCP.1000132 2017
D05 Garland EM, Celedonio JE & Raj SR (2016). Postural Tachycardia Syndrome: Beyond Orthostatic Intolerance. Curr Neurol Neurosci Rep. 2015 Sep;15(9):60 2016
D06 Park K-J, Singer W, Sletten DM, Low PA & Bharucha AE (2013). Gastric Emptying in Postural Tachycardia Syndrome: A Preliminary Report. Clin Auton Res. 2013 August ; 23(4): 163–167. 2013
D07 Loavenbruck et al. (2015). Disturbances of Gastrointestinal Transit and Autonomic Functions in Postural Orthostatic Tachycardia Syndrome. Neurogastroenterol Motil. 2015 January ; 27(1): 92–98 2015
D08 Blitshteyn, Svetlana & Fries, David. (2017). Cardiovascular testing in patients with postural orthostatic tachycardia syndrome and Ehlers–Danlos syndrome type III. Clinical Autonomic Research. 27. 10.1007/s10286-017-0397-7. 2017
D09 Huang, Hao & Deb, Anindita & Culbertson, Collin & Morgenshtern, Karen & Hohler, Anna. (2015). Dermatological Manifestations of Postural Tachycardia Syndrome Are Common and Diverse. Journal of clinical neurology (Seoul, Korea). 12. 10.3988/jcn.2016.12.1.75. 2015
D10 De Wandele, Inge & Rombaut, Lies & Backer, Tine & Peersman, Wim & Da Silva, Hellen & Mits, Sophie & De Paepe, Anne & Calders, Patrick & Malfait, Fransiska. (2016). Orthostatic intolerance and fatigue in the hypermobility type of Ehlers-Danlos Syndrome. Rheumatology. 55. kew032. 10.1093/rheumatology/kew032. 2016
D11 Kenney, M. J., & Ganta, C. K. (2014). Autonomic nervous system and immune system interactions. Comprehensive Physiology, 4(3), 1177-200. 2014
D13 R. Raj, Satish & E Stiles, Lauren. (2018). Special issue for the silver anniversary of Postural Tachycardia Syndrome. Autonomic Neuroscience. 10.1016/j.autneu.2018.03.003. 2018
D14 Arnold, A.C., Ng, J.L., & Raj, S.R. (2018). Postural tachycardia syndrome – Diagnosis, physiology, and prognosis. Autonomic Neuroscience, 215, 3-11. 2018
D15 P. Goodman, Brent. (2018). Evaluation of postural tachycardia syndrome (POTS). Autonomic Neuroscience. 10.1016/j.autneu.2018.04.004. 2018
D16 Fu, Qi & D. Levine, Benjamin. (2018). Exercise and non-pharmacological treatment of POTS. Autonomic Neuroscience. 215. 10.1016/j.autneu.2018.07.001. 2018
D17 J. Miller, Amanda & R. Raj, Satish. (2018). Pharmacotherapy for postural tachycardia syndrome. Autonomic Neuroscience. 10.1016/j.autneu.2018.04.008. 2018
D18 Cook, G. A., & Sandroni, P. (Accepted/In press). Management of headache and chronic pain in POTS. Autonomic Neuroscience: Basic and Clinical. https://doi.org/10.1016/j.autneu.2018.06.004 2018
D19 Raj, V.N., Opie, M., & Arnold, A.C. (2018). Cognitive and psychological issues in postural tachycardia syndrome. Autonomic Neuroscience, 215, 46-55. 2018
D20 Strassheim V, Welford J, Ballantine R, Newton JL. (2018). Managing fatigue in postural tachycardia syndrome (PoTS): The Newcastle approach. Autonomic Neuroscience: Basic and Clinical, 215 , pp. 56-61. 2018
D21 G. Miglis, Mitchell & Barwick, Fiona. (2018). Sleep disorders in patients with postural tachycardia syndrome: A review of the literature and guide for clinicians. Autonomic Neuroscience. 10.1016/j.autneu.2018.05.002. 2018
D22 Chelimsky G & Chelimsky (2018). The gastrointestinal symptoms present in patients with postural tachycardia syndrome: A review of the literature and overview of treatment. Autonomic Neuroscience: Basic and Clinical, 215 , pp. 70-77. 2018
D23 Vernino S & Stiles LE (2018). Autoimmunity in postural orthostatic tachycardia syndrome: Current understanding. Auton Neurosci. 2018 Dec;215:78-82. doi: 10.1016/j.autneu.2018.04.005. Epub 2018 Apr 26. 2018
D24 A. Doherty, Taylor & White, Andrew. (2018). Postural orthostatic tachycardia syndrome and the potential role of mast cell activation. Autonomic Neuroscience. 10.1016/j.autneu.2018.05.001. 2018
D25 Roma, Maria & Marden, Colleen & De Wandele, Inge & A. Francomano, Clair & C. Rowe, Peter. (2018). Postural tachycardia syndrome and other forms of orthostatic intolerance in Ehlers-Danlos syndrome. Autonomic Neuroscience. 10.1016/j.autneu.2018.02.006. 2018
D26 Boris JR (2018). Postural orthostatic tachycardia syndrome in children and adolescents. Auton Neurosci. 2018 Dec;215:97-101. doi: 10.1016/j.autneu.2018.05.004. Epub 2018 May 12. 2018
D27 Ruzieh M & Grubb BP (2018). Overview of the management of postural tachycardia syndrome in pregnant patients. Auton Neurosci. 2018 Dec;215:102-105. doi: 10.1016/j.autneu.2018.02.002. Epub 2018 Feb 16. 2018
D28 Morgan, Kate & Chojenta, Catherine & Tavener, Meredith & Smith, Angela & Loxton, Deb. (2018). Postural Orthostatic Tachycardia Syndrome during pregnancy: A systematic review of the literature. Autonomic Neuroscience. 10.1016/j.autneu.2018.05.003. 2018
D29 Ruzieh, Mohammed & Dziuba, Mark & P. Hofmann, James & Grubb, Blair. (2018). Surgical and dental considerations in patients with postural tachycardia syndrome. Autonomic Neuroscience. 10.1016/j.autneu.2018.04.003. 2018
D30 Stiles LE, Cinnamon J & Balan I (2018). The patient perspective: What postural orthostatic tachycardia syndrome patients want physicians to know. Autonomic Neuroscience: Basic and Clinical, 215 , pp. 121-125. 2018
D31 Raj SR & Robertson D (2018). Moving from the present to the future of Postural Tachycardia Syndrome - What we need. Auton Neurosci. 2018 Dec;215:126-128. doi: 10.1016/j.autneu.2018.06.007. Epub 2018 Jul 4. 2018
D32 Fedorowski, Artur. (2018). Postural Orthostatic Tachycardia Syndrome: clinical presentation, aetiology, and management. Journal of Internal Medicine. 10.1111/joim.12852. 2018
D33 Bartholdy K, Biering-Sørensen T, Malmqvist L, et al. Cardiac arrhythmias the first month after acute traumatic spinal cord injury. J Spinal Cord Med. 2014;37(2):162-70. 2014
Publikationen aus anderen Verzeichnissen
Sy11 Hakim A, O’Callaghan C, De Wandele I, Stiles L, Pocinki A, Rowe P. 2017. Cardiovascular autonomic dysfunction in Ehlers–Danlos syndrome—Hypermobile type. Am J Med Genet Part C Semin Med Genet 175C:168–174. 2017
Sy12 Hakim A, De Wandele I, O’Callaghan C, Pocinki A, Rowe P. 2017. Chronic fatigue in Ehlers–Danlos syndrome—Hypermobile type. Am J Med Genet Part C Semin Med Genet 175C:175–180. 2017
Sonstiges
Endokrinologie
Publikationen
E01 Coelho PC, Santos RA, Gomes JA. Osteoporosis and Ehlers-Danlos syndrome. Annals of the Rheumatic Diseases. 1994;53(3):212-213. 1994
E02 Casanova EL, Sharp JL, Edelson SM, Kelly DP & Casanova MF. A Cohort Study Comparing Women with Autism Spectrum Disorder with and without Generalized Joint Hypermobility. Behavioral Sciences. 2018;8(3):35. doi:10.3390/bs8030035. 2018
E03 Morissette R, Merke DP & McDonnell NB (2014). Transforming growth factor-β (TGF-β) pathway abnormalities in tenascin-X deficiency associated with CAH-X syndrome. Eur J Med Genet. 2014 Feb;57(2-3):95-102. 2014
E04 Merke et. al (2013). Tenascin-X haploinsufficiency associated with Ehlers-Danlos syndrome in patients with congenital adrenal hyperplasia. J Clin Endocrinol Metab. 2013 Feb;98(2):E379-87. 2013
Genetik
Publikationen
G01 Cortini et al. (2016). Next-generation sequencing and a novel COL3A1 mutation associated with vascular Ehlers–Danlos syndrome with severe intestinal involvement: a case report. Cortini et al. Journal of Medical Case Reports (2016) 10:303 2016
G02 Iglesias et al. (2018). Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases. Nat Commun. 2018 May 14;9(1):1864. 2018
G03 Haenisch B, Nöthen MM, Molderings GJ (2012). Systemic mast cell activation disease: the role of molecular genetic alterations in pathogenesis, heritability and diagnostics. Immunology. 2012 Nov;137(3):197-205. 2012
G04 Chiarelli N, Carini G, Zoppi N, Ritelli M, ColombiM (2018) Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome. PLoS ONE 13(1): e0191220. https://doi.org/ 10.1371/journal.pone.0191220 2018
G05 Zhang et al. (2017). Identification of a missense mutation of COL3A1 in a Chinese family with atypical Ehlers-Danlos syndrome using targeted next-generation sequencing. Mol Med Rep. 2017 Feb;15(2):936-940. 2017
G06 Gouignard et al. (2016). Musculocontractural Ehlers–Danlos syndrome and neurocristopathies: dermatan sulfate is required for Xenopus neural crest cells to migrate and adhere to fibronectin. Dis Model Mech. 2016 Jun 1; 9(6): 607–620. 2016
G07 Lyons et al. (2016). Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 copy number. Nat Genet. 2016 Dec;48(12):1564-1569. 2016
G08 Kapferer-Seebacher et al. (2016). Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement. The American Journal of Human Genetics 99, 1005–1014, 2016
G09 Molderings GJ, Haenisch B, Bogdanow M, Fimmers R, Nöthen MM (2013) Familial Occurrence of Systemic Mast Cell Activation Disease. PLoS ONE 8(9):e76241. doi:10.1371/journal.pone.0076241 2013
G10 Teraishi et al. (2017). Critical involvement of ZEB2 in collagen fibrillogenesis: the molecular similarity between Mowat-Wilson syndrome and Ehlers-Danlos syndrome. Sci Rep. 2017 Apr 19;7:46565. 2017
G11 Makrygiannis, Georgios & Loeys, Bart & Defraigne, Jean-Olivier & Sakalihasan, Natzi. (2015). Cervical artery dissections and type A aortic dissection in a family with a novel missense COL3A1 mutation of vascular type Ehlers-Danlos syndrome. European journal of medical genetics. 58. 10.1016/j.ejmg.2015.10.009. 2015
G12 Syx, Delfien & Symoens, Sofie & Steyaert, Wouter & De Paepe, Anne & Coucke, Paul & Malfait, Fransiska. (2015). Ehlers-Danlos Syndrome, Hypermobility Type, Is Linked to Chromosome 8p22-8p21.1 in an Extended Belgian Family. Disease Markers. 2015. 1-9. 10.1155/2015/828970. 2015
G13 Mayer, Karin & Kennerknecht, Ingo & Steinmann, Beat. (2012). Clinical utility gene card for: Ehlers–Danlos syndrome types I–VII and variants-update 2012. European journal of human genetics : EJHG. 21. 10.1038/ejhg.2012.162. 2012
G14 G Pepin, Melanie & Schwarze, Ulrike & M Rice, Kenneth & Liu, Mingdong & Leistritz, Dru & Byers, Peter. (2014). Survival is affected by mutation type and molecular mechanism in vascular Ehlers–Danlos syndrome (EDS type IV). Genetics in medicine : official journal of the American College of Medical Genetics. 16. 10.1038/gim.2014.72. 2014
G15 Pangalos et al. (2016), First applications of a targeted exome sequencing approach in fetuses with ultrasound abnormalities reveals an important fraction of cases with associated gene defects . PeerJ 4:e1955; DOI 10.7717/peerj.1955 2016
Gastroenterologie und Ernährung
Praesentationen
Gi_Prae01 Chelimsky G (2017). Hypermobile EDS and Gastrointestinal Issues. Abgerufen von https://drive.google.com/file/d/0B75swxo54XfgMDhyRlUwMnNSNFE/view 2017
Gi_Prae02 Kovacic K & Sood MR (2017). Gastrointestinal Motility Disorders & Cyclic Vomiting Syndrome. Abgerufen von https://drive.google.com/file/d/0B75swxo54XfgZmNnMVM0Z3E5bE0/view 2017
Publikationen
Gi01 Fukuda et al. (2017). Mobile Cecum in a Young Woman with Ehlers-Danlos Syndrome Hypermobility type: A Case Report and Review of the Literature. Intern Med. 2017 Oct 15;56(20):2791-2796. 2017
Gi02 Burcharth J, Rosenberg J (2012). Gastrointestinal Surgery and Related Complications in Patients with Ehlers-Danlos Syndrome: A Systematic Review. Dig Surg 2012;29:349–357 2012
Gi03 Kulas Søborg ML, Leganger J, Rosenberg J, Burcharth J (2017). Increased Need for Gastrointestinal Surgery and Increased Risk of Surgery-Related Complications in Patients with Ehlers-Danlos Syndrome: A Systematic Review. Dig Surg. 2017;34(2):161-170. 2017
Gi04
Gi05 P. Vounotrypidis, E. Efremidou, P. Zezos, et al., “Prevalence of Joint Hypermobility and Patterns of Articular Manifestations in Patients with Inflammatory Bowel Disease,” Gastroenterology Research and Practice, vol. 2009, Article ID 924138, 5 pages, 2009. https://doi.org/10.1155/2009/924138. 2009
Gi06 Abonia et al. (2013). High prevalence of eosinophilic esophagitis in patients with inherited connective tissue disorders. J Allergy Clin Immunol. 2013 Aug;132(2):378-86. 2013
Gi07 Zeitoun J-D, Lefèvre JH, de Parades V, Séjourné C, Sobhani I, et al. (2013) Functional Digestive Symptoms and Quality of Life in Patients with Ehlers-Danlos Syndromes: Results of a National Cohort Study on 134 Patients. PLoS ONE 8(11): e80321. doi:10.1371/journal.pone.0080321 2013
Gi08 Inayet, Nashiz & Poullis, Andrew & Hayat, Jamal. (2018). Gastrointestinal symptoms in Marfan syndrome and Ehlers Danlos syndrome. 10.1155/2018/4854701/.. 2018
Gi09 Craven H, Iftikhar H, Bhatnagar P. BMJ Case Rep Published online: [ please include Day Month Year] doi:10.1136/bcr-2016-215308 2016
Gi10 Yoneda, Akira & Okada, Kazuya & Okubo, Hitoshi & Matsuo, Mitsutoshi & Kishikawa, Hiroki & Than Naing, Banyar & Watanabe, Atsushi & Shimada, Takashi. (2014). Spontaneous Colon Perforations Associated with a Vascular Type of Ehlers-Danlos Syndrome. Case reports in gastroenterology. 8. 175-81. 10.1159/000363373. 2014
Gi11 P Plackett, Timothy & Kwon, Edward & A Gagliano, Ronald & Oh, Robert. (2014). Ehlers-Danlos Syndrome—Hypermobility Type and Hemorrhoids. Case reports in surgery. 2014. 171803. 10.1155/2014/171803. 2014
Gi12 Kucera, Stephen & Sullivan, Stephen. (2017). Visceroptosis and the Ehlers-Danlos Syndrome. Cureus. 9. 10.7759/cureus.1828. 2017
Gi13 Casey, Maire Caitlin & Robertson, I & Waters, Peadar & Hanaghan, J & Khan, Waqar & Barry, Michael. (2014). Non-operative management of diverticular perforation in a patient with suspected Ehlers–Danlos syndrome. International journal of surgery case reports. 5. 135-137. 10.1016/j.ijscr.2013.12.024. 2014
Gi14 Reinstein, Eyal & Pimentel, Mark & Pariani, Mitchel & Nemec, Stephen & Sokol, Thomas & L Rimoin, David. (2012). Visceroptosis of the Bowel in the Hypermobility type of Ehlers-Danlos Syndrome: Presentation of a Rare Manifestation and Review of the Literature. European journal of medical genetics. 55. 548-51. 10.1016/j.ejmg.2012.06.012. 2012
Gi15 Allaparthi, Satya & Verma, Himanshu & L Burns, David & M Joyce, Ann. (2013). Conservative management of small bowel perforation in Ehlers-Danlos syndrome type IV. World journal of gastrointestinal endoscopy. 5. 398-401. 10.4253/wjge.v5.i8.398. 2013
Publikationen aus anderen Verzeichnissen
Sy13 Fikree A, Chelimsky G, Collins H, Kovacic K, Aziz Q. 2017. Gastrointestinal involvement in the Ehlers–Danlos syndromes. Am J Med Genet Part C Semin Med Genet 175C:181–187. 2017
Sonstiges
Gi_Sons01 Collins H (2013). Magnesium and Ehlers-Danlos Syndrome Part One: *Why* persons with Eds need to know about magnesium. 2013
Gynäkologie
Publikationen
Gy01 Hugon-Rodin, Justine & Lebègue, Géraldine & Becourt, Stéphanie & Hamonet, C & Gompel, Anne. (2016). Gynecologic symptoms and the influence on reproductive life in 386 women with hypermobility type ehlers-danlos syndrome: a cohort study. Orphanet Journal of Rare Diseases. 11. 10.1186/s13023-016-0511-2. 2016
Gy02 Pezaro, Sally & Pearce, Gemma & Reinhold, Emma. (2018). Hypermobile Ehlers-Danlos Syndrome during pregnancy, birth and beyond. British Journal of Midwifery. 26. 10.12968/bjom.2018.26.4.217. 2018
Gy03 Bolognese PA, Kula RW, Onesti ST. Chiari I malformation and delivery. Surg Neurol Int 2017;8:12. 2017
Gy04 Khalil, Haroona & Rafi, J & T Hla, T. (2013). A case report of obstetrical management of a pregnancy with hypermobile Ehlers–Danlos syndrome and literature review. Obstetric Medicine. Obstetric Medicine 2013; 6: 80–82. 80–82.. 10.1177/1753495X13482894. 2013
Gy05 Stewart, Fiona. (2013). Marfan's syndrome and other aortopathies in pregnancy. Obstetric Medicine: The Medicine of Pregnancy. 6. 112-119. 10.1177/1753495X13496237. 2013
Gy06 F Egging, David & van Vlijmen-Willems, Ivonne & Choi, Jiwon & C T M Peeters, Anita & van Rens, Desiree & Veit, Guido & Koch, Manuel & C Davis, Elaine & Schalkwijk, Joost. (2008). Analysis of obstetric complications and uterine connective tissue in tenascin-X-deficient humans and mice. Cell and tissue research. 332. 523-32. 10.1007/s00441-008-0591-y. 2008
Gy07 Zahed, M & Tosello, Barthelemy & Coze, Stéphanie & Gire, Catherine. (2017). Kyphoscolitic Type of Ehlers-Danlos Syndrome with Prenatal Stroke. Indian Pediatrics. 54. 495-497. 10.1007/s13312-017-1054-x. 2017
Gy08 L Murray, Mitzi & Pepin, Melanie & Peterson, Suzanne & Byers, Peter. (2014). Pregnancy-related deaths and complications in women with vascular Ehlers–Danlos syndrome. Genetics in medicine : official journal of the American College of Medical Genetics. 16. 10.1038/gim.2014.53. 2014
Gy09 Than Naing, Banyar & Watanabe, Atsushi & Tanigaki, Shinji & Ono, Masae & Iwashita, Mitsutoshi & Shimada, Takashi. (2014). Presymptomatic genetic analysis during pregnancy for vascular type Ehlers–Danlos syndrome. International medical case reports journal. 7. 99-102. 10.2147/IMCRJ.S59879. 2014
Gy10 S Hurst, Bradley & Lange, Sara & M Kullstam, Susan & S Usadi, Rebecca & L Matthews, Michelle & Marshburn, Paul & A Templin, Megan & S Merriam, Kathryn. (2014). Obstetric and Gynecologic Challenges in Women With Ehlers-Danlos Syndrome. Obstetrics and gynecology. 123. 10.1097/AOG.0000000000000123. 2014
Gy11 Dutta, Indranil & Wilson, Helen & Oteri, Odiri. (2011). Pregnancy and Delivery in Ehlers-Danlos Syndrome (Hypermobility Type): Review of the Literature. Obstetrics and gynecology international. 2011. 306413. 10.1155/2011/306413. 2011
Publikationen aus anderen Verzeichnissen
An01 Carness JM, Lenart MJ (2018). Spinal Anaesthesia for Cesarean Section in a Patient with Vascular Type Ehlers-Danlos Syndrome. Hindawi Case Reports in Anesthesiology Volume 2018, Article ID 1924725, 4 pages 2018
Sonstiges
Haut
Publikationen
H01 Zoppi N, Chiarelli N, Ritelli M, Colombi M. Multifaced Roles of the αvβ3 Integrin in Ehlers–Danlos and Arterial Tortuosity Syndromes’ Dermal Fibroblasts. International Journal of Molecular Sciences. 2018;19(4):982. doi:10.3390/ijms19040982. 2018
H02 Chiarelli N, Carini G, Zoppi N, Ritelli M, ColombiM (2018) Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome. PLoS ONE 13(1): e0191220. https://doi.org/ 10.1371/journal.pone.0191220 2018
H03 Heiko Poppe H, Hamm H (2013). Piezogenic Papules in Ehlers-Danlos Syndrome. J Pediatr 2013;163:1788. 2013
H04 Hermanns-Lê T, Piérard GE, Piérard-Franchimont C, Manicourt D (2015). Syndrome d’Ehlers-Danlos de type hypermobile : Une atteinte multi-systémique apport de l’ultrastructure cutanée pour une prise en charge personnalisée. Rev Med Liège 2015; 70 : 5-6 : 325-330 2015
H05 M. Al-Qattan, Mohammed & Wahed, Mervat & Hawary, Khalid & Arafah, Maha & Shier, Medhat. (2015). Myofibroblast Expression in Skin Wounds Is Enhanced by Collagen III Suppression. BioMed Research International. 2015. 1-6. 10.1155/2015/958695. 2015
H06 Chiarelli N, Carini G, Zoppi N, Dordoni C, Ritelli M, Venturini M, et al. (2016) Transcriptome-Wide Expression Profiling in Skin Fibroblasts of Patients with Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type. PLoS ONE 11(8):e0161347. doi:10.1371/journal.pone.0161347 2016
Hilfsmittel
Praesentationen
Hi_Prae01 Garris J & Foulks K (2016). Anatomy and SilverRing™ Splints for Ehlers-Danlos Hands. Abgerufen von https://www.dropbox.com/s/cu196ma3zmw0nlh/EDNF%20Webinar%20March%2015%2C%202016_combined_2.pptx.pdf?dl=0 2016
HNO und Logopaedie
Publikationen
HNO01 Baumann et al. (2012) Mutations in FKBP14 Cause a Variant of Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss. Am J Hum Genet. 2012 Feb 10;90(2):201-16 2012
HNO02 Chung L K, Lagman C, Nagasawa D T, et al. (April 06, 2017) Superior Semicircular Canal Dehiscence in a Patient with Ehlers-Danlos Syndrome: A Case Report. Cureus 9(4): e1141. doi:10.7759/cureus.1141 2017
HNO03 Chatzoudis, D & J Kelly, T & Lancaster, J & M Jones, T. (2015). Upper airway obstruction in a patient with Ehlers‐Danlos syndrome. Annals of The Royal College of Surgeons of England. 97. 10.1308/003588414X14055925061793. 2015
Sonstiges
Kardiologie
Publikationen
K01 J Wenstrup, Richard & A Meyer, Richard & S Lyle, Jennifer & Hoechstetter, Leah & S Rose, Peter & P Levy, Howard & A Francomano, Claire. (2002). Prevalence of aortic root dilation in Ehlers-Danlos Syndrome. Genetics in medicine : official journal of the American College of Medical Genetics. 4. 112-7. 10.1097/00125817-200205000-00003. 2002
K02 Nawarskas, J. J., Cheng-Lai, A., & Frishman, W. H. (2017). Celiprolol: A Unique Selective Adrenoceptor Modulator. Cardiology in Review, 25(5), 247-253. DOI: 10.1097/CRD.0000000000000159 2017
K03 B McDonnell, Nazli & L Gorman, Beverly & W Mandel, Katherine & H Schurman, Shepherd & Assanah-Carroll, Alison & A Mayer, Susan & S Najjar, Samer & Francomano, Clair. (2006). Echocardiographic findings in classical and hypermobile Ehlers-Danlos syndromes. American journal of medical genetics. Part A. 140. 129-36. 10.1002/ajmg.a.31035. 2006
K04 D'hondt, Sanne & Van Damme, Tim & Malfait, Fransiska. (2017). Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome: A systematic review. GENETICS in MEDICINE. 20. 10.1038/gim.2017.138. 2017
K05 Chen, Y. C., Chung, C. C., Kao, P. F., & Hsieh, M. H. (2013). A lethal complication after coronary angiography in a patient with ehlers-danlos syndrome. Acta Cardiologica Sinica, 29(3), 281-284. 2013
K06 Imanaka-Yoshida, Kyoko & Matsumoto, Ken-ichi. (2018). Multiple Roles of Tenascins in Homeostasis and Pathophysiology of Aorta. Annals of Vascular Diseases. 11. 10.3400/avd.ra.17-00118. 2018
K07 Kelly RP, Horne SG, Molinari M, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2014-206299 2014
K08 Zainal A, Hamad MN, Naqvi SY. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2016-215943 2016
K09 M Reinhold, Stephanie & Lima, Brian & Khalid, Adnan & V Gonzalez-Stawinski, Gonzalo & Stoler, Robert & Hall, Shelley & Chamogeorgakis, Themistokles. (2015). Heart Transplantation in the Ehlers-Danlos Syndrome. Proceedings (Baylor University. Medical Center). 28. 492-3. 10.1080/08998280.2015.11929319. 2015
K10 Garg, Vinisha & Bersohn, Malcolm & K. Han, Janet. (2018). Arrhythmias and myocardial fragility in Ehlers-Danlos Syndrome: Complications after routine ICD placement. HeartRhythm Case Reports. 4. 10.1016/j.hrcr.2018.03.008. 2018
Mastzellenaktivierungssyndrom
Praesentationen
M_Prae01 Afrin LB (2016). Mast cell activation disease: Current Concepts. Abgerufen von https://slideplayer.com/slide/10821020/ 2016
M_Prae02 Maitland A (2017). Mast Cell Activation Disorders. Abgerufen von https://drive.google.com/file/d/0B75swxo54XfgYzJiMzVqR3F2dFU/view 2017
M_Prae03 Theoharides CT (2015). Mast Cell Disorders. Abgerufen von https://www.dropbox.com/s/m39ncaqrbkspglw/Mast%20cell%20Disorders%206-2-15.pdf?dl=0 2015
Publikationen
M01 Theoharides, Theoharis & Angelidou, Asimenia & Alysandratos, Konstantinos-Dionysios & Zhang, Bodi & Asadi, Shahrzad & Francis, Konstantinos & Toniato, Elena & Kalogeromitros, Dimitrios. (2010). Mast cell activation and autism. Biochimica et biophysica acta. 1822. 34-41. 10.1016/j.bbadis.2010.12.017. 2010
M02 Jennings, Susan & C. Russell, Nancy & Jennings, Blair & Slee, Valerie & Sterling, Lisa & Castells Guitart, Mariana & Valent, Peter & Akin, Cem. (2013). The Mastocytosis Society Survey On Mast Cell Disorders: Patient Experiences and Perceptions. The Journal of Allergy and Clinical Immunology: In Practice. 2. 10.1016/j.jaip.2013.09.004. 2013
M03 Molderings, Gerhard & Haenisch, Britta & Brettner, Stefan & Homann, Jürgen & Menzen, Markus & Ludwig Dumoulin, Franz & Panse, Jens & Butterfield, Joseph & Afrin, Lawrence. (2016). Pharmacological treatment options for mast cell activation disease. Naunyn-Schmiedeberg's Archives of Pharmacology. 389. 10.1007/s00210-016-1247-1. 2016
M04 Molderings et al.: Mast cell activation disease: a concise practical guide for diagnostic workup and therapeutic options. Journal of Hematology & Oncology 2011 4:10. 2011
M05 Valent P. Mast cell activation syndromes: definition and classification. Allergy 2013; 68: 417–424. 2013
M06 Haenisch B, Molderings GJ (2018). White matter abnormalities are also repeatedly present in patients with systemic mast cell activation syndrome. Transl Psychiatry. 2018 May 10;8(1):95. 2018
M07 Valent, Peter & Akin, Cem & Arock, Michel & Brockow, Knut & H Butterfield, Joseph & Carter, Melody & Castells Guitart, Mariana & Escribano, Luis & Hartmann, Karin & Lieberman, Philip & Nedoszytko, Boguslaw & Orfao, Alberto & B Schwartz, Lawrence & Sotlar, Karl & R Sperr, Wolfgang & Triggiani, Massimo & Valenta, Rudolf & Horny, Hans-Peter & D Metcalfe, Dean. (2012). Definitions, Criteria and Global Classification of Mast Cell Disorders with Special Reference to Mast Cell Activation Syndromes: A Consensus Proposal. International archives of allergy and immunology. 157. 215-25. 10.1159/000328760. 2012
M08 Valent, Peter & Akin, Cem & D. Metcalfe, Dean. (2016). Mastocytosis 2016: Updated WHO Classification and Novel Emerging Treatment Concepts. Blood. 129. blood-2016. 10.1182/blood-2016-09-731893. 2016
M09 V. Jennings, Susan & M. Slee, Valerie & Zack, Rachel & Verstovsek, Srdan & I. George, Tracy & Shi, Hongliang & Lee, Philina & Castells, Mariana. (2018). Patient Perceptions in Mast Cell Disorders. Immunology and Allergy Clinics of North America. 38. 10.1016/j.iac.2018.04.006. 2018
M10 Xie G, Wang F, Peng X, Liang Y, Yang H, Li  L, Modulation of Mast Cell Toll-Like Receptor 3 Expression and Cytokines Release by Histamine. Cell Physiol Biochem 2018;46:2401-2411 2018
M11 Folkerts J, Stadhouders R, Redegeld FA, Tam S-Y, Hendriks RW, Galli SJ and Maurer M (2018) Effect of Dietary Fiber and Metabolites on Mast Cell Activation and Mast Cell-Associated Diseases. Front. Immunol. 9:1067.doi: 10.3389/fimmu.2018.01067 2018
M12 De Zuani, Marco & Dal Secco, Chiara & Frossi, Barbara. (2018). Mast cells at the crossroads of microbiota and IBD. European Journal of Immunology. 48. 10.1002/eji.201847504. 2018
M13 González de Olano, David & Alvarez-Twose, Iván. (2018). Mast Cells as Key Players in Allergy and Inflammation. Journal of Investigational Allergology and Clinical Immunology. 28. 365-378. 10.18176/jiaci.0327. 2018
Publikationen aus anderen Verzeichnissen
G03 Haenisch B, Nöthen MM, Molderings GJ (2012). Systemic mast cell activation disease: the role of molecular genetic alterations in pathogenesis, heritability and diagnostics. Immunology. 2012 Nov;137(3):197-205. 2012
S01 Wirz S, Molderings GJ (2017). A Practical Guide for Treatment of Pain in Patients with Systemic Mast Cell Activation Disease. Pain Physician 2017; 20:E849-E861. 2017
Sy18 Seneviratne SL, Maitland A, Afrin L. 2017. Mast cell disorders in Ehlers–Danlos syndrome. Am J Med Genet Part C Semin Med Genet 175C:226–236. 2017
Sonstiges
M_Sons01 Schäfer et al.: Prostaglandin D2-supplemented “functional eicosanoid testing and typing” assay with peripheral blood leukocytes as a new tool in the diagnosis of systemic mast cell activation disease: an explorative diagnostic study. Journal of Translational Medicine 2014 12:213. 2014
M_Sons02 Molderings GJ, Zienkiewicz T, Homann J et al. Risk of solid cancer in patients with mast cell activation syndrome: Results from Germany and USA [version 1; referees: 2 approved] F1000Research 2017, 6:1889 (doi: 10.12688/f1000research.12730.1) 2017
M_Sons03 Molderings GJ, Haenisch B, Bogdanow M, Fimmers R, No¨ then MM (2013) Familial Occurrence of Systemic Mast Cell Activation Disease. PLoS ONE 8(9):e76241. doi:10.1371/journal.pone.0076241 2013
Neurologie
Publikationen
N01 Kapferer, Ines & Waisfisz, Quinten & Boesch, Sylvia & Bronk, Marieke & Tintelen, J. Peter & R. Gizewski, Elke & Groebner, Rebekka & Zschocke, Johannes & van der Knaap, Marjo. (2018). Periodontal Ehlers–Danlos syndrome is associated with leukoencephalopathy. neurogenetics. 10.1007/s10048-018-0560-x. 2018
N02 Hamonet C, Ducret L, Marié-Tanay C, Brock I (2016) Dystonia in the joint hypermobility syndrome (a.k.a. Ehlers-Danlos syndrome, hypermobility type). SOJ Neurol 3(1), 1-3. 2016
N03 Reinstein, Eyal & Pariani, Mitchel & Bannykh, Serguei & L Rimoin, David & Schievink, Wouter. (2012). Connective tissue spectrum abnormalities associated with spontaneous cerebrospinal fluid leaks: A prospective study. European journal of human genetics : EJHG. 21. 10.1038/ejhg.2012.191. 2012
N04 Castori M, Voermans NC. Neurological manifestations of Ehlers-Danlos syndrome(s): A review. Iran J Neurol 2014; 13(2):190-208. 2014
N05 Voermans NC (2011). Neuromuscular features of Ehlers-Danlos syndrome and Marfan syndrome. Doktorarbeit 2011
N06 T Kim, Sarasa & Brinjikji, Waleed & Lanzino, Giuseppe & F Kallmes, David. (2016). Neurovascular manifestations of connective-tissue diseases: A review. Interventional Neuroradiology. 22. 10.1177/1591019916659262. 2016
N07 Sheen, Volney & Walsh, Christopher. (2005). Periventricular Heterotopia: New Insights into Ehlers-Danlos Syndrome. Clinical medicine & research. 3. 229-33. 10.3121/cmr.3.4.229. 2005
N08 Verrotti, Alberto & Monacelli, Debora & Castagnino, Miriam & Villa, Maria & Parisi, Pasquale. (2014). Ehlers-Danlos Syndrome: A cause of epilepsy and periventricular heterotopia. Seizure. 23. 10.1016/j.seizure.2014.07.014. 2014
N09 Scheper, M. C., Pacey, V., Rombaut, L., Adams, R. D., Tofts, L., Calders, P., ... Engelbert, R. H. H. (2017). Generalized hyperalgesia in children and adults diagnosed with hypermobility syndrome and Ehlers-Danlos syndrome hypermobility yype: a discriminative analysis. Arthritis Care and Research, 69(3), 421-429. DOI: 10.1002/acr.22998 2017
N10 Verrotti, Alberto & Valentina Spartà, Maria & Monacelli, Debora & Porto, Rossella & Castagnino, Miriam & Russo Raucci, Annalisa & Compagno, Francesca & Viglio, Simona & Foiadelli, Thomas & Nicita, Francesco & Grosso, Salvatore & Spalice, Alberto & Chiarelli, Francesco & Marseglia, Gianluigi & Savasta, Salvatore. (2014). Long-term prognosis of patients with Ehlers-Danlos syndrome and epilepsy. Epilepsia. 55. 10.1111/epi.12699. 2014
N11 H. Nygaard, Rie & Jensen, Jacob & C. Voermans, Nicol & Heinemeier, Katja & Schjerling, Peter & Holm, Lars & Agergaard, Jakob & Mackey, Abigail & Løvind Andersen, Jesper & Remvig, Lars & Kjaer, Michael. (2017). Skeletal muscle morphology, protein synthesis and gene expression in Ehlers Danlos Syndrome. Journal of Applied Physiology. 123. jap.01044.2016. 10.1152/japplphysiol.01044.2016. 2017
N12 Araki M, Lin Y, Ono H, Sato W, Yamamura T (2018). Application of immunotherapy for neurological manifestations in hypermobile Ehlers-Danlos syndrome. Ther Adv Neurol Disord 2018, Vol. 11: 1–5, DOI: 10.1177/1756286418793766 2018
N13 Dupuy EG, Leconte P, Vlamynck E, Sultan A, Chesneau C, Denise P, Besnard S, Bienvenu B and Decker LM (2017) Ehlers-Danlos Syndrome, Hypermobility Type: Impact of Somatosensory Orthoses on Postural Control (A Pilot Study). Front. Hum. Neurosci. 11:283. doi: 10.3389/fnhum.2017.00283 2017
Publikationen aus anderen Verzeichnissen
M06 Haenisch B, Molderings GJ (2018). White matter abnormalities are also repeatedly present in patients with systemic mast cell activation syndrome. Transl Psychiatry. 2018 May 10;8(1):95. 2018
Sy15 Henderson Sr. FC, Austin C, Benzel E, Bolognese P, Ellenbogen R, Francomano CA, Ireton C, Klinge P, Koby M, Long D, Patel S, Singman EL, Voermans NC. 2017. Neurological and spinal manifestations of the Ehlers–Danlos syndromes. Am J Med Genet Part C Semin Med Genet 175C:195–211. 2017
Sonstiges
Neurochirurgie
Praesentationen
Nc_Prae01 Klinge PM (2015). Tethered Cord Syndrome in Ehlers-Danlos - Diagnostic criteria, Surgical Indication and Filum pathology. Abgerufen von https://www.ehlers-danlos.com/2015-annual-conference-files/Klinge.pdf 2015
Nc_Prae02 Klinge PM (2018). Managing life with neurological symptoms. Abgerufen von https://drive.google.com/file/d/0B75swxo54XfgVzY3RmtoY2d4XzJaQjc3Sjl2V1VsTGpid3Y0/view 2018
Nc_Prae03 Bolognese PA (2018). Chiari I Malformation, EDS, and Craniocervical Instability. Abgerufen von https://drive.google.com/file/d/1cwIWJOEs4f6VfLqXqpZgU8R_ZXBGRuiz/view 2018
Nc_Prae04 Klinge PM (2016). Tethred Cord in EDS: A practical approach to understanding surgical criteria and supporting data outcomes. Abgerufen von https://drive.google.com/file/d/0Bxk_ErqWO4kcbXJFWkgzS2lxYW8/view 2016
Publikationen
Nc01 Joaquim, Andrei & Ghizoni, Enrico & Giacomini, Leonardo & Tedeschi, Helder & A Patel, Alpesh. (2014). Basilar invagination: Surgical results. Journal of craniovertebral junction & spine. 5. 78-84. 10.4103/0974-8237.139202. 2014
Nc02 Jahangiri F R, Al eissa S, Sayegh S, et al. (August 31, 2016) Vertebral Column Resection for Kyphoscoliosis in a Patient with Ehlers-Danlos Syndrome: An Intraoperative Neurophysiological Monitoring Alert. Cureus 8(8): e759. DOI 10.7759/cureus.759 2016
Nc03 Henderson FC, Wilson WA, Mott S, et al. Deformative stress associated with an abnormal clivo-axial angle: A finite element analysis. Surgical Neurology International. 2010;1:30. doi:10.4103/2152-7806.66461. 2010
Nc04 Nagy, L., Mobley, J., & Ray, C.N. (2016). Familial Aggregation of Chiari Malformation: Presentation, Pedigree, and Review of the Literature. Turkish neurosurgery, 26 2, 315-20. 2016
Nc05 Henderson, Fraser & A. Wilson, William & S. Mark, Alexander & Koby, Myles. (2017). Utility of the clivo-axial angle in assessing brainstem deformity: pilot study and literature review. Neurosurgical Review. 41. 10.1007/s10143-017-0830-3. 2017
Nc06 Payne, John. (2007). Tethered spinal cord syndrome. BMJ (Clinical research ed.). 335. 42-3. 10.1136/bmj.39216.436713.BE. 2007
Nc07 Shukla M, Sardhara J, Sahu RN, Sharma P, Behari S, Jaiswal AK, et al. Adult versus pediatric tethered cord syndrome: Clinicoradiological differences and its management. Asian J Neurosurg 2018;13:264-70. 2018
Nc08 Eppelheimer MS, Houston JR, Bapuraj JR, Labuda R, Loth DM, Braun AM, Allen NJ, Heidari Pahlavian S, Biswas D, Urbizu A, Martin BA, Maher CO, Allen PA and Loth F (2018) A Retrospective 2D Morphometric Analysis of Adult Female Chiari Type I Patients with Commonly Reported and Related Conditions. Front. Neuroanat. 12:2. doi: 10.3389/fnana.2018.00002 2018
Nc09 Leeuwen, Redmer & C. Notermans, Nicolette & Vandertop, William. (2001). Surgery in adults with tethered cord syndrome: Outcome study with independent clinical review. Journal of neurosurgery. 94. 205-9. 10.3171/spi.2001.94.2.0205. 2001
Nc12 K Agarwalla, Pankaj & F Dunn, Ian & Michael Scott, R & R Smith, Edward. (2007). Tethered Cord Syndrome. Neurosurgery clinics of North America. 18. 531-47. 10.1016/j.nec.2007.04.001. 2007
Nc13 C. Henderson, Fraser & A. Francomano, C & Koby, M & Tuchman, K & Adcock, J & Patel, S. (2019). Cervical medullary syndrome secondary to craniocervical instability and ventral brainstem compression in hereditary hypermobility connective tissue disorders: 5-year follow-up after craniocervical reduction, fusion, and stabilization. Neurosurgical Review. 10.1007/s10143-018-01070-4. 2019
Nc14 Rowe PC, Marden CL, Heinlein S & Edwards CC (2018). Improvement of severe myalgic encephalomyelitis/chronic fatigue syndrome symptoms following surgical treatment of cervical spinal stenosis. J Transl Med. 2018 Feb 2;16(1):21. doi: 10.1186/s12967-018-1397-7. 2018
Publikationen aus anderen Verzeichnissen
N03 Reinstein, Eyal & Pariani, Mitchel & Bannykh, Serguei & L Rimoin, David & Schievink, Wouter. (2012). Connective tissue spectrum abnormalities associated with spontaneous cerebrospinal fluid leaks: A prospective study. European journal of human genetics : EJHG. 21. 10.1038/ejhg.2012.191. 2012
Sy15 Henderson Sr. FC, Austin C, Benzel E, Bolognese P, Ellenbogen R, Francomano CA, Ireton C, Klinge P, Koby M, Long D, Patel S, Singman EL, Voermans NC. 2017. Neurological and spinal manifestations of the Ehlers–Danlos syndromes. Am J Med Genet Part C Semin Med Genet 175C:195–211. 2017
Sonstiges
Orthopädie
Publikationen
O01 D Shirley, Eric & Demaio, Marlene & Bodurtha, Joanne. (2012). Ehlers-Danlos Syndrome in Orthopaedics. Sports health. 4. 394-403. 10.1177/1941738112452385. 2012
O02 Michael Rabenhorst, Brien & Garg, Sumeet & Anthony Herring, J. (2012). Posterior spinal fusion in patients with Ehlers-Danlos syndrome: A report of six cases. Journal of children's orthopaedics. 6. 131-6. 10.1007/s11832-012-0393-3. 2012
O03 Levy, Benjamin & Schulz, Jacob & Fornari, Eric & L Wollowick, Adam. (2015). Complications associated with surgical repair of syndromic scoliosis. Scoliosis. 10. 10.1186/s13013-015-0035-x. 2015
O04 Tocchioni, Francesca & Ghionzoli, Marco & Messineo, Antonio & Romagnoli, Paolo. (2013). Pectus Excavatum and Heritable Disorders of the Connective Tissue. Pediatric reports. 5. e15. 10.4081/pr.2013.e15. 2013
O05 Armstrong, M.D., Smith, B.T., Coady, C.M., & Wong, I.H. (2018). Arthroscopic Anterior and Posterior Glenoid Bone Augmentation With Capsular Plication for Ehlers-Danlos Syndrome With Multidirectional Instability. Arthroscopy techniques. 2018
O06 Choi, Jeffrey & Naito, Kelvin & Curry, Emily & Li, Xinning. (2018). Anterior Cruciate Ligament Reconstruction With Achilles Tendon Allograft in a Patient With Ehlers-Danlos Syndrome. Orthopaedic Journal of Sports Medicine. 6. 232596711878517. 10.1177/2325967118785170. 2018
O07 Williams, John & Hutt, Jonathan & Rickman, Mark. (2015). Anterior Cruciate Ligament Reconstruction in Ehlers-Danlos Syndrome. Case reports in orthopedics. 2015. 160381. 10.1155/2015/160381. 2015
O08 Skedros, John & M Phippen, Colton & D Langston, Tanner & S Mears, Chad & L Trujillo, Amy & M Miska, Robert. (2015). Complex Scapular Winging following Total Shoulder Arthroplasty in a Patient with Ehlers-Danlos Syndrome. Case reports in orthopedics. 2015. 680252. 10.1155/2015/680252. 2015
O09 Matthew C. Bessette, Raymond J. Kenney, Michael B. Geary, P. Christopher Cook, Brian D. Giordano; A novel iliotibial band and gluteus maximus tenodesis for the treatment of external coxa saltas in a patient with Ehlers–Danlos syndrome, Journal of Hip Preservation Surgery, Volume 2, Issue 3, 1 October 2015, Pages 316–317, https://doi.org/10.1093/jhps/hnv050 2015
O10 Karpyshyn, J., Gordey, E. E., Coady, C. M., & Wong, I. H. (2018). Posterior Glenohumeral Capsular Reconstruction Using an Acellular Dermal Allograft. Arthroscopy Techniques, 7(7), e739–e745. http://doi.org/10.1016/j.eats.2018.03.011 2018
Publikationen aus anderen Verzeichnissen
D01 Grigoriou E, Boris JR, Dormans JP. Postural Orthostatic Tachycardia Syndrome (POTS): Association with Ehlers-Danlos Syndrome and Orthopaedic Considerations. Clinical Orthopaedics and Related Research. 2015;473(2):722-728. doi:10.1007/s11999-014-3898-x. 2015
E01 Coelho PC, Santos RA, Gomes JA. Osteoporosis and Ehlers-Danlos syndrome. Annals of the Rheumatic Diseases. 1994;53(3):212-213. 1994
N13 Dupuy EG, Leconte P, Vlamynck E, Sultan A, Chesneau C, Denise P, Besnard S, Bienvenu B and Decker LM (2017) Ehlers-Danlos Syndrome, Hypermobility Type: Impact of Somatosensory Orthoses on Postural Control (A Pilot Study). Front. Hum. Neurosci. 11:283. doi: 10.3389/fnhum.2017.00283 2017
Sy08 Juul-Kristensen B, Schmedling K, Rombaut L, Lund H, Engelbert RHH. 2017. Measurement properties of clinical assessment methods for classifying generalized joint hypermobility—A systematic review. Am J Med Genet Part C Semin Med Genet 175C:116–147. 2017
Sy14 Ericson Jr. WB, Wolman R. 2017. Orthopaedic management of the Ehlers–Danlos syndromes. Am J Med Genet Part C Semin Med Genet 175C:188–194. 2017
Sonstiges
Ophthalmologie
Publikationen
Oph01 Smith SM, Birk DE (2012). Focus on Molecules: Collagens V and XI. Exp Eye Res. 2012 May;98:105-6. 2012
Oph02 Robati, Reza & Einollahi, Bahram & Einollahi, Hoda & Younespour, Shima & Fadaifard, Shahed. (2016). Skin Biophysical Characteristics in Patients with Keratoconus: A Controlled Study. Scientifica. 2016. 1-4. 10.1155/2016/6789081. 2016
Oph03 Galperin G, Berra M, Berra A (2013). Keratectasia following laser in situ keratomileusis in a low-risk patient with benign joint hypermobility syndrome. Arq Bras Oftalmol. 2014;77(2):119-21 2013
Oph04 Khan, S., Gibbon, C., & Johns, S. (2018). A rare case of bilateral spontaneous indirect caroticocavernous fistula treated previously as a case of conjunctivitis. Therapeutic Advances in Ophthalmology, 10, 2515841418788303. http://doi.org/10.1177/2515841418788303 2018
Publikationen aus anderen Verzeichnissen
A_ceds02 Symoens S, Malfait F, Vlummens P, Hermanns-Leˆ T, Syx D, et al. (2011) A Novel Splice Variant in the N-propeptide of COL5A1 Causes an EDS Phenotype with Severe Kyphoscoliosis and Eye Involvement. PLoS ONE 6(5): e20121. doi:10.1371/journal.pone.0020121 2011
G02 Iglesias et al. (2018). Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases. Nat Commun. 2018 May 14;9(1):1864. 2018
Sonstiges
Psychologie und Psychiatrie
Praesentationen
P_Prae01 Pocinki A (2016).Psychiatric Misdiagnosis in Ehlers–Danlos Syndromem Or When is Anxiety Not Anciety?. Abgerufen von https://drive.google.com/file/d/0Bxk_ErqWO4kcWkJsQWE0QXJ4Wnc/view 2016
P_Prae02 Barnum R (2014). EDS and Psychiatric Illness Misdiagnoses. Abgerufen von https://drive.google.com/file/d/0B75swxo54XfgVmR3Q0IwU1Fyajg/view 2014
P_Prae03 O’Leary D (2016). "All in Your Head" The Problem auf Psychogenic Diagnosis for Ehlers-Danlos Patients. Abgerufen von https://www.dropbox.com/s/u15zo2mtawe67mb/O%27Leary%20EDS%20Webinar%20presentation%206-7-2016.pdf?dl=0 2016
Publikationen
P01 Barnum R. Problems with diagnosing Conversion Disorder in response to variable and unusual symptoms. Adolescent Health, Medicine and Therapeutics. 2014;5:67-71. doi:10.2147/AHMT.S57486. 2014
P02 von der Lippe C, Diesen PS, Feragen KB (2017). Living with a rare disorder: a systematic review of the qualitative literature. Mol Genet Genomic Med. 2017 Nov;5(6):758-773 2017
P03 Cederlöf, Martin & Larsson, Henrik & Lichtenstein, Paul & Almqvist Malmros, Catarina & Serlachius, Eva & Ludvigsson, Jonas. (2016). Nationwide population-based cohort study of psychiatric disorders in individuals with Ehlers–Danlos syndrome or hypermobility syndrome and their siblings. BMC Psychiatry. 16. 10.1186/s12888-016-0922-6. 2016
P04 Clarka CJ, Knight I (2017). A humanisation approach for the management of Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome-Hypermobility Type (JHS/EDS-HT). International Journal of Qualitative Studies on Health and Well-Being, VOL. 12, 1371993 https://doi.org/10.1080/17482631.2017.1371993 2017
P05 O'Leary, Diane. (2018). Ethical Management of Diagnostic Uncertainty: Response to Open Peer Commentaries on “Why Bioethics Should Be Concerned With Medically Unexplained Symptoms”. The American Journal of Bioethics. 10.1080/15265161.2018.1481241. 2018
P06 O’Leary (2018). Bodily distress syndrome: Concerns about scientific credibility in research and implementation. Journal of Biological Physics and Chemistry 18 (2018) 67–77, doi: 10.4024/07LE18A.jbpc.18.02 2018
P07 Diane O'Leary (2018) Why Bioethics Should Be Concerned With Medically Unexplained Symptoms, The American Journal of Bioethics, 18:5, 6-15, DOI: 10.1080/15265161.2018.1445312 2018
P09 Lian, Olaug & Robson, Catherine. (2018). Socially constructed and structurally conditioned conflicts in territories of medical uncertainty. Social Theory & Health. 10.1057/s41285-018-00082-w. 2018
P10 Reynolds, Joel. (2018). Three Things Clinicians Should Know About Disability [AMA Journal of Ethics]. 20. 1181-1187. 10.1001/amajethics.2018.1181. 2018
P11 Blease, C & Carel, Havi & Geraghty, Keith. (2016). Epistemic injustice in healthcare encounters: Evidence from chronic fatigue syndrome. Journal of Medical Ethics. 43. medethics-2016. 10.1136/medethics-2016-103691. 2016
P12 Baeza-Velasco, Carolina & Cohen, David & Hamonet, Claude & Vlamynck, Elodie & Diaz, Lautaro & Cravero, Cora & Cappe, Émilie & Guinchat, Vincent. (2018). Autism, Joint Hypermobility-Related Disorders and Pain. Frontiers in Psychiatry. 10.3389/fpsyt.2018.00656. 2018
Publikationen aus anderen Verzeichnissen
E02 Casanova EL, Sharp JL, Edelson SM, Kelly DP & Casanova MF. A Cohort Study Comparing Women with Autism Spectrum Disorder with and without Generalized Joint Hypermobility. Behavioral Sciences. 2018;8(3):35. doi:10.3390/bs8030035. 2018
M01 Theoharides, Theoharis & Angelidou, Asimenia & Alysandratos, Konstantinos-Dionysios & Zhang, Bodi & Asadi, Shahrzad & Francis, Konstantinos & Toniato, Elena & Kalogeromitros, Dimitrios. (2010). Mast cell activation and autism. Biochimica et biophysica acta. 1822. 34-41. 10.1016/j.bbadis.2010.12.017. 2010
Sy19 Bulbena A, Baeza-Velasco C, Bulbena-Cabre A, Pailhez G, Critchley H, Chopra P, Mallorquı-Bague N, Frank C, Porges S. 2017. Psychiatric and psychological aspects in the Ehlers –Danlos syndromes. Am J Med Genet Part C Semin Med Genet 175C:237–245. 2017
Sonstiges
Paediatrie
Publikationen
Pae01 Cattalini, Marco & Khubchandani, Raju & Cimaz, Rolando. (2015). When flexibility is not necessarily a virtue: A review of hypermobility syndromes and chronic or recurrent musculoskeletal pain in children. Pediatric Rheumatology Online Journal. 13. 10.1186/s12969-015-0039-3. 2015
Pae02 Scheper, Mark & Engelbert, Raoul & Rameckers, Eugene & Verbunt, Jeanine & Remvig, Lars & Juul-Kristensen, Birgit. (2013). Children with Generalised Joint Hypermobility and Musculoskeletal Complaints: State of the Art on Diagnostics, Clinical Characteristics, and Treatment. BioMed research international. 2013. 121054. 10.1155/2013/121054. 2013
Pae03 Holick MF, Hossein-Nezhad A, Tabatabaei F (2017). Multiple fractures in infants who have Ehlers-Danlos/hypermobility syndrome and or vitamin D deficiency: A case series of 72 infants whose parents were accused of child abuse and neglect. Dermatoendocrinol. 2017 Feb 16;9(1):e1279768. 2017
Pae04 Vadysinghe AN, Wickramashinghe CU, Nanayakkara DN, Kaluarachchi CI. Suspicious scars: physical child abuse vs Ehlers-Danlos syndrome. Autops Case Rep [Internet]. 2018;8(1):e2018008. http://dx.doi.org/10.4322/acr.2018.008 2018
Pae05 Grahame, Rodney. (2017). The multisystemic nature and natural history of joint hypermobility syndrome and Ehlers-Danlos syndrome in children: New research data conflict with widely held views. Rheumatology (Oxford, England). 56. 10.1093/rheumatology/kex241. 2017
Pae06 okhmafshan, Fatima & Brophy, Patrick & Gbadegesin, Rasheed & R. Gupta, Indra. (2016). Vesicoureteral reflux and the extracellular matrix connection. Pediatric Nephrology. 32. 10.1007/s00467-016-3386-5. 2017
Publikationen aus anderen Verzeichnissen
Physiotherapie und Ergotherapie
Publikationen
PE01 Gellert, P (2016). Hypermobilität der Gelenke. pt_Zeitschrift für Physiotherapeuten_68 [2016] 1 2016
PE02 Corrado, Bruno & Ciardi, Gianluca. (2018). Hypermobile Ehlers-Danlos syndrome and rehabilitation: taking stock of evidence based medicine: a systematic review of the literature. Journal of Physical Therapy Science. 30. 10.1589/jpts.30.847. 2018
PE03 Scheper, Mark & Rombaut, Lies & de Vries, Janneke & De Wandele, Inge & Esch, Martin & Visser, Bart & Malfait, Franciska & Calders, Patrick & Engelbert, Raoul. (2016). The association between muscle strength and activity limitations in patients with the hypermobility type of Ehlers-Danlos syndrome: the impact of proprioception. Disability and rehabilitation. 39. 1-7. 10.1080/09638288.2016.1196396. 2016
Publikationen aus anderen Verzeichnissen
Sy08 Juul-Kristensen B, Schmedling K, Rombaut L, Lund H, Engelbert RHH. 2017. Measurement properties of clinical assessment methods for classifying generalized joint hypermobility—A systematic review. Am J Med Genet Part C Semin Med Genet 175C:116–147. 2017
Sy10 Engelbert RH, Juul-Kristensen B, Pacey V, de Wandele I, Smeenk S, Woinarosky N, Sabo S, Scheper MC, Russek L, Simmonds JV. 2017. The evidence-based rationale for physical therapy treatment of children, adolescents, and adults diagnosed with joint hypermobility syndrome/ hypermobile Ehlers Danlos syndrome. Am J Med Genet Part C Semin Med Genet 175C:158–167. 2017
Sonstiges
Pulmologie
Publikationen
Pu01 Purohit, Neeraj & Marsland, Daniel & Roberts, Neil & Townsend, Edward. (2009). Haemo-pneumothorax and haemoptysis in a patient with suspected Ehlers-Danlos syndrome. Interactive cardiovascular and thoracic surgery. 9. 130-1. 10.1510/icvts.2009.204313. 2009
Pu02 Takashi Ishiguro, Noboru Takayanagi, Yoshinori Kawabata, Hidekazu Matsushima, Yutaka Yoshii, Keiji Harasawa, Shozaburo Yamaguchi, Koichiro Yoneda, Yousuke Miyahara, Naho Kagiyama, Daido Tokunaga, Fumiaki Aoki, Hiroo Saito, Kazuyoshi Kurashima, Mikio Ubukata, Tsutomu Yanagisawa, Yutaka Sugita, Hiroshi Okita, Atsushi Hatamochi, Ehlers-Danlos Syndrome with Recurrent Spontaneous Pneumothoraces and Cavitary Lesion on Chest X-ray as the Initial Complications, Internal Medicine, 2009, Volume 48, Issue 9, Pages 717-722, 2009
Pu03 Nakagawa, Hiroaki & Wada, Hiroshi & Hajiro, Takashi & Nagao, Taishi & Ogawa, Emiko & Hatamochi, Atsushi & Tanaka, Toshihiro & Nakano, Yasutaka. (2015). Ehlers-Danlos Syndrome Type IV with Bilateral Pneumothorax. Internal Medicine. 54. 3181-3184. 10.2169/internalmedicine.54.4947. 2015
Pu04 Geake JB, Ritchey DM, Burke J, Halliday A, Wood-Baker R, Maguire G (2013). Sudden death in a young male with a recent pneumothorax: a case report. Eur Respir Rev. 2014 Mar 1;23(131):145-7. doi: 10.1183/09059180.00004913. 2014
Pu05 Watanabe, A & Kawabata, Y & Okada, O & Tanabe, Nobuhiro & Kimura, Hiroshi & Hatamochi, A & Shinkai, H & Sakai, N & Shimada, T & Hiroshima, Kenzo & Kuriyama, T. (2002). Ehlers-Danlos syndrome type IV with few extrathoracic findings: A newly recognized point mutation in the COL3A1 gene. The European respiratory journal : official journal of the European Society for Clinical Respiratory Physiology. 19. 195-8. 10.1183/09031936.02.00219202. 2002
Pu06 Morgan, Ann & Pearson, Stanley & Davies, S & C Gooi, H & Bird, HA. (2007). Asthma and airways collapse in two heritable disorders of connective tissue. Annals of the rheumatic diseases. 66. 1369-73. 10.1136/ard.2006.062224. 2007
Pu07 Amin, Ruchi & H. Waibel, Brett. (2017). Spontaneous Diaphragmatic Rupture in Hypermobile Type Ehlers-Danlos Syndrome. Case Reports in Surgery. 2017. 1-3. 10.1155/2017/2081725. 2017
Pu08 Ruggeri, Paolo & Calcaterra, Salvatore & Girbino, Giuseppe. (2014). Bullous emphysema as first presentation of Ehlers-Danlos Syndrome in monozygotic twins. Respiratory Medicine Case Reports. 342. 10.1016/j.rmcr.2014.12.002. 2014
Pu09 A. Park, Min & Youn Shin, So & Jin Kim, Young & Park, Myung & Lee, Seung. (2017). Vascular Ehlers–Danlos syndrome with cryptorchidism, recurrent pneumothorax, and pulmonary capillary hemangiomatosis-like foci: A case report. Medicine. 96. e8853. 10.1097/MD.0000000000008853. 2017
Radiologie
Publikationen
R01 T. Kim, S & Brinjikji, Waleed & F. Kallmes, D. (2016). Prevalence of Intracranial Aneurysms in Patients with Connective Tissue Diseases: A Retrospective Study. American Journal of Neuroradiology. 37. 10.3174/ajnr.A4718. 2016
Publikationen aus anderen Verzeichnissen
N06 T Kim, Sarasa & Brinjikji, Waleed & Lanzino, Giuseppe & F Kallmes, David. (2016). Neurovascular manifestations of connective-tissue diseases: A review. Interventional Neuroradiology. 22. 10.1177/1591019916659262. 2016
Nc03 Henderson FC, Wilson WA, Mott S, et al. Deformative stress associated with an abnormal clivo-axial angle: A finite element analysis. Surgical Neurology International. 2010;1:30. doi:10.4103/2152-7806.66461. 2010
Nc05 Henderson, Fraser & A. Wilson, William & S. Mark, Alexander & Koby, Myles. (2017). Utility of the clivo-axial angle in assessing brainstem deformity: pilot study and literature review. Neurosurgical Review. 41. 10.1007/s10143-017-0830-3. 2017
Nc07 Shukla M, Sardhara J, Sahu RN, Sharma P, Behari S, Jaiswal AK, et al. Adult versus pediatric tethered cord syndrome: Clinicoradiological differences and its management. Asian J Neurosurg 2018;13:264-70. 2018
Nc08 Eppelheimer MS, Houston JR, Bapuraj JR, Labuda R, Loth DM, Braun AM, Allen NJ, Heidari Pahlavian S, Biswas D, Urbizu A, Martin BA, Maher CO, Allen PA and Loth F (2018) A Retrospective 2D Morphometric Analysis of Adult Female Chiari Type I Patients with Commonly Reported and Related Conditions. Front. Neuroanat. 12:2. doi: 10.3389/fnana.2018.00002 2018
Sonstiges
Schmerzen
Praesentationen
S_Prae01 Chopra P (2017). Management komplexer Schmerzen bei Kindern und Erwachsenen mit Ehlers Danlos Syndromen und Complex Regional Pain Syndrome. Abgerufen von https://www.ehlers-danlos-initiative.de/fileadmin/user_upload/EDS/aktuelles/Complex_pain_in_adults_and_children_German.pdf 2017
S_Prae02 Chopra P (2017). Management of complex pain in children and adults with EDS and CRPS. Abgerufen von https://www.ehlers-danlos-initiative.de/fileadmin/user_upload/EDS/aktuelles/Complex_pain_in_adults_and_children_Original.pdf 2017
S_Prae03 Tennant F (2019). Managing intractable pain in ehlers-danlos patients. Abgerufen von https://drive.google.com/file/d/0Bxk_ErqWO4kcRmRuLVNyeWJSTUU/view 2019
S_Prae04 Chopra P (2016). Complex Regional Pain Syndrome/RSD: Diagnose und Behandlung. Abgerufen von https://documentcloud.adobe.com/link/track?uri=urn%3Aaaid%3Ascds%3AUS%3A568073f8-0ce0-4ab8-b054-fc667ffd6031 2016
S_Prae05 Chopra P (2016). Complex Regional Pain Syndrome/RSD: Diagnose und Behandlung. Abgerufen von https://rsds.org/wp-content/uploads/2015/06/CRPS-Orange-County-2016-Chopra.pdf 2016
Publikationen
S01 Wirz S, Molderings GJ (2017). A Practical Guide for Treatment of Pain in Patients with Systemic Mast Cell Activation Disease. Pain Physician 2017; 20:E849-E861. 2017
S02 Syx D, De Wandele I, Rombaut L, Malfait F (2017). Hypermobility, the Ehlers-Danlos syndromes and chronic pain. Clin Exp Rheumatol 2017; 35 (Suppl. 107): S116-S122. 2017
S03 M Stoler, Joan & Oaklander, Anne Louise. (2006). Patients with Ehlers Danlos syndrome and CRPS: A possible association?. Pain. 123. 204-9. 10.1016/j.pain.2006.02.022. 2006
S04 Castori M (2016). Pain in Ehlers-Danlos syndromes: manifestations, therapeutic strategies and future perspectives. Expert Opinion on Orphan Drugs, 4:11, 1145-1158. 2016
S05 Scheper MC, de Vries JE, Verbunt J, Engelbert RHH (2015). Chronic pain in hypermobility syndrome and Ehlers–Danlos syndrome (hypermobility type): it is a challenge. Journal of Pain Research 2015:8 591-601. 2016
S06 Lo, T. C. T., Yeung, S. T., Lee, S., Skavinski, K., & Liao, S. (2016). Reduction of central neuropathic pain with ketamine infusion in a patient with Ehlers–Danlos syndrome: a case report. Journal of Pain Research, 9, 683–687. http://doi.org/10.2147/JPR.S110261 2016
S07 Hulens M, Rasschaert R, Vansant G, Stalmans I, Bruyninckx F & Dankaerts W (2018). The link between idiopathic intracranial hypertension, fibromyalgia, and chronic fatigue syndrome: exploration of a shared pathophysiology. Published online 2018 Dec 10. doi: 10.2147/JPR.S186878. J Pain Res. 2018; 11: 3129–3140. 2018
S08 Schwartzman R.J, Erwin K.L & Alexander G.M (2009). Der Verlauf des Complex Regional Pain Syndrome. Abgerufen von https://documentcloud.adobe.com/link/track?uri=urn%3Aaaid%3Ascds%3AUS%3A004a6efc-5867-4271-8597-07a35c0f4f01 2009
S09 Schwartzman R.J, Erwin K.L & Alexander G.M (2009). The Natural History of Complex Regional Pain Syndrome. Clin J Pain. 2009 May;25(4):273-80. doi: 10.1097/AJP.0b013e31818ecea5. 2009
S10 Schwartzman, Robert. (2012). Systemische Komplikationen beim Complex Regional Pain Syndrome. Abgerufen von https://documentcloud.adobe.com/link/track?uri=urn%3Aaaid%3Ascds%3AUS%3A9fc76318-3092-4607-b537-a0a54c087d6b 2012
S11 Schwartzman, Robert. (2012). Systemic Complications of Complex Regional Pain Syndrome. Neuroscience & Medicine. 03. 225-242. 10.4236/nm.2012.33027. 2012
Publikationen aus anderen Verzeichnissen
Sy16 Chopra P, Tinkle B, Hamonet C, Brock I, Gompel A, Bulbena A, Francomano C. 2017. Pain management in the Ehlers–Danlos syndromes. Am J Med Genet Part C Semin Med Genet 175C:212–219. 2017
Sonnologie
Publikationen
So01 Howard RS, Henderson F, Hirsch NP, Stevens JM, Kendall BE, Crockard HA. Respiratory abnormalities due to craniovertebral junction compression in rheumatoid disease. Annals of the Rheumatic Diseases. 1994;53(2):134-136. 1994
So02 Sankari A, Martin JL, Bascom AT, Mitchell MN, Badr MS (2015). Identification and treatment of sleep-disordered breathing in chronic spinal cord injury. Spinal Cord. 2015 Feb;53(2):145-9 2015
So03 Mallien J, Isenmann S, Mrazek A and Haensch C-A (2014) Sleep disturbances and autonomic dysfunction in patients with postural orthostatic tachycardia syndrome. Front. Neurol. 5:118. doi: 10.3389/fneur.2014.00118 2014
So05 Gaisl, Thomas & Giunta, Cecilia & Sutherland, Kate & Bratton, Daniel & Schlatzer, Christian & Sievi, Noriane & Franzen, Daniel & Cistulli, Peter & Rohrbach, Marianne & Kohler, Malcolm. (2016). Obstructive sleep apnea in Ehlers-Danlos syndrome. A prospective case-control study. European Respiratory Journal. 48. PA339. 10.1183/13993003.congress-2016.PA339. 2017
Publikationen aus anderen Verzeichnissen
Sy12 Hakim A, De Wandele I, O’Callaghan C, Pocinki A, Rowe P. 2017. Chronic fatigue in Ehlers–Danlos syndrome—Hypermobile type. Am J Med Genet Part C Semin Med Genet 175C:175–180. 2017
ST_Seltene_Typen
pEDS
Publikationen aus anderen Verzeichnissen
G08 Kapferer-Seebacher et al. (2016). Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement. The American Journal of Human Genetics 99, 1005–1014, 2016
Z07 Reinstein, Eyal & Dawn Delozier, Celia & Simon, Ziv & Bannykh, Serguei & L Rimoin, David & Curry, Cynthia. (2012). Ehlers–Danlos syndrome type VIII is clinically heterogeneous disorder associated primarily with periodontal disease, and variable connective tissue features. European journal of human genetics : EJHG. 21. 10.1038/ejhg.2012.132. 2012
Publikationen
ST01 Rohrbach et al.: Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation. Orphanet Journal of Rare Diseases 2011 6:46. 2011
ST02 Bin, B., Hojyo, S., Lee, T.R., & Fukada, T. (2014). Spondylocheirodysplastic Ehlers-Danlos syndrome (SCD-EDS) and the mutant zinc transporter ZIP13. Rare diseases. 2014
ST03 Klaassens, M., Reinstein, E., Hilhorst-Hofstee, Y., Schrander, J. J. P., Malfait, F., Staal, H., … Schrander-Stumpel, C. T. R. M. (2012). Ehlers-Danlos Arthrochalasia type (VIIA-B) – expanding the phenotype: from prenatal life through adulthood. Clinical Genetics, 82(2), 121–130. http://doi.org/10.1111/j.1399-0004.2011.01758.x 2012
ST04 Chiquet M, Birk DE, Bönnemann CG, Koch M (2014). Collagen XII: Protecting bone and muscle integrity by organizing collagen fibrils. Int J Biochem Cell Biol. 2014 Aug;53:51-4. 2014
ST05 R. Janecke, Andreas & Li, Ben & Boehm, Manfred & Krabichler, Birgit & Rohrbach, Marianne & Müller, Thomas & Fuchs, Irene & Golas, Gretchen & Katagiri, Yasuhiro & G. Ziegler, Shira & Gahl, William & Wilnai, Yael & Zoppi, Nicoletta & geller, Herbert & Giunta, Cecilia & Slavotinek, Anne & Steinmann, Beat. (2015). The Phenotype of the Musculocontractural Type of Ehlers-Danlos Syndrome due to CHST14 Mutations. American Journal of Medical Genetics Part A. 170. 10.1002/ajmg.a.37383. 2015
ST06 Van Damme, Tim & Colige, Alain & Syx, Delfien & Giunta, Cecilia & Lindert, Uschi & Rohrbach, Marianne & Aryani, Omid & Alanay, Yasemin & Simsek-Kiper, Pelin & Y Kroes, Hester & Devriendt, Koen & Thiry, Marc & Symoens, Sofie & De Paepe, Anne & Malfait, Fransiska. (2016). Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type. Genetics in medicine : official journal of the American College of Medical Genetics. 18. 10.1038/gim.2015.188. 2016
ST07 Blackburn (2018). Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome. Am J Hum Genet. 2018 Apr 5;102(4):696-705. doi: 10.1016/j.ajhg.2018.02.018. Epub 2018 Mar 29. 2018
Publikationen aus anderen Verzeichnissen
E03 Morissette R, Merke DP & McDonnell NB (2014). Transforming growth factor-β (TGF-β) pathway abnormalities in tenascin-X deficiency associated with CAH-X syndrome. Eur J Med Genet. 2014 Feb;57(2-3):95-102. 2014
G06 Gouignard et al. (2016). Musculocontractural Ehlers–Danlos syndrome and neurocristopathies: dermatan sulfate is required for Xenopus neural crest cells to migrate and adhere to fibronectin. Dis Model Mech. 2016 Jun 1; 9(6): 607–620. 2016
N01 Kapferer, Ines & Waisfisz, Quinten & Boesch, Sylvia & Bronk, Marieke & Tintelen, J. Peter & R. Gizewski, Elke & Groebner, Rebekka & Zschocke, Johannes & van der Knaap, Marjo. (2018). Periodontal Ehlers–Danlos syndrome is associated with leukoencephalopathy. neurogenetics. 10.1007/s10048-018-0560-x. 2018
Sy17 Mitakides J, Tinkle BT. 2017. Oral and mandibular manifestations in the Ehlers–Danlos syndromes. Am J Med Genet Part C Semin Med Genet 175C:220–225. 2017
Symposium 2017
Publikationen
Sy02 Bloom L, Byers P, Francomano C, Tinkle B, Malfait F, on behalf of the Steering Committee of The International Consortium on the Ehlers-Danlos Syndromes. 2017. The international consortium on the Ehlers–Danlos syndromes. Am J Med Genet Part C Semin Med Genet 175C:5–7. 2017
Sy03 Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, Bloom L, Bowen JM, Brady AF, Burrows NP, 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 ME, Levy H, Mendoza-Londono R, Pepin M, Pope FM, Reinstein E, Robert L, Rohrbach M, Sanders L, Sobey GJ, Van Damme T, Vandersteen A, van Mourik C, Voermans N, Wheeldon N, Zschocke J, Tinkle B. 2017. The 2017 international classification of the Ehlers–Danlos syndromes. Am J Med Genet Part C Semin Med Genet 175C:8–26. 2017
Sy04 Bowen JM, Sobey GJ, Burrows NP, Colombi M, Lavallee ME, Malfait F, Francomano CA. 2017. Ehlers–Danlos syndrome, classical type. Am J Med Genet Part C Semin Med Genet 175C:27–39. 2017
Sy05 Byers PH, Belmont J, Black J, De Backer J, Frank M, Jeunemaitre X, Johnson D, Pepin M, Robert L, Sanders L, Wheeldon N. 2017. Diagnosis, natural history, and management in vascular Ehlers–Danlos syndrome. Am J Med Genet Part C Semin Med Genet 175C:40–47. 2017
Sy06 Tinkle B, Castori M, Berglund B, Cohen H, Grahame R, Kazkaz H, Levy H. 2017. Hypermobile Ehlers–Danlos syndrome (a.k.a. Ehlers–Danlos syndrome Type III and Ehlers–Danlos syndrome hypermobility type): Clinical description and natural history. Am J Med Genet Part C Semin Med Genet 175C:48–69. 2017
Sy07 Brady AF, Demirdas S, Fournel-Gigleux S, Ghali N, Giunta C, Kapferer-Seebacher I, Kosho T, Mendoza-Londono R, Pope MF, Rohrbach M, Van Damme T, Vandersteen A, van Mourik C, Voermans N, Zschocke J, Malfait F. 2017. The Ehlers–Danlos syndromes, rare types. Am J Med Genet Part C Semin Med Genet 175C:70–115. 2017
Sy08 Juul-Kristensen B, Schmedling K, Rombaut L, Lund H, Engelbert RHH. 2017. Measurement properties of clinical assessment methods for classifying generalized joint hypermobility—A systematic review. Am J Med Genet Part C Semin Med Genet 175C:116–147. 2017
Sy09 Castori M, Tinkle B, Levy H, Grahame R, Malfait F, Hakim A. 2017. A framework for the classification of joint hypermobility and related conditions. Am J Med Genet Part C Semin Med Genet 175C:148–157. 2017
Sy10 Engelbert RH, Juul-Kristensen B, Pacey V, de Wandele I, Smeenk S, Woinarosky N, Sabo S, Scheper MC, Russek L, Simmonds JV. 2017. The evidence-based rationale for physical therapy treatment of children, adolescents, and adults diagnosed with joint hypermobility syndrome/ hypermobile Ehlers Danlos syndrome. Am J Med Genet Part C Semin Med Genet 175C:158–167. 2017
Sy11 Hakim A, O’Callaghan C, De Wandele I, Stiles L, Pocinki A, Rowe P. 2017. Cardiovascular autonomic dysfunction in Ehlers–Danlos syndrome—Hypermobile type. Am J Med Genet Part C Semin Med Genet 175C:168–174. 2017
Sy12 Hakim A, De Wandele I, O’Callaghan C, Pocinki A, Rowe P. 2017. Chronic fatigue in Ehlers–Danlos syndrome—Hypermobile type. Am J Med Genet Part C Semin Med Genet 175C:175–180. 2017
Sy13 Fikree A, Chelimsky G, Collins H, Kovacic K, Aziz Q. 2017. Gastrointestinal involvement in the Ehlers–Danlos syndromes. Am J Med Genet Part C Semin Med Genet 175C:181–187. 2017
Sy14 Ericson Jr. WB, Wolman R. 2017. Orthopaedic management of the Ehlers–Danlos syndromes. Am J Med Genet Part C Semin Med Genet 175C:188–194. 2017
Sy15 Henderson Sr. FC, Austin C, Benzel E, Bolognese P, Ellenbogen R, Francomano CA, Ireton C, Klinge P, Koby M, Long D, Patel S, Singman EL, Voermans NC. 2017. Neurological and spinal manifestations of the Ehlers–Danlos syndromes. Am J Med Genet Part C Semin Med Genet 175C:195–211. 2017
Sy16 Chopra P, Tinkle B, Hamonet C, Brock I, Gompel A, Bulbena A, Francomano C. 2017. Pain management in the Ehlers–Danlos syndromes. Am J Med Genet Part C Semin Med Genet 175C:212–219. 2017
Sy17 Mitakides J, Tinkle BT. 2017. Oral and mandibular manifestations in the Ehlers–Danlos syndromes. Am J Med Genet Part C Semin Med Genet 175C:220–225. 2017
Sy18 Seneviratne SL, Maitland A, Afrin L. 2017. Mast cell disorders in Ehlers–Danlos syndrome. Am J Med Genet Part C Semin Med Genet 175C:226–236. 2017
Sy19 Bulbena A, Baeza-Velasco C, Bulbena-Cabre A, Pailhez G, Critchley H, Chopra P, Mallorquı-Bague N, Frank C, Porges S. 2017. Psychiatric and psychological aspects in the Ehlers –Danlos syndromes. Am J Med Genet Part C Semin Med Genet 175C:237–245. 2017
Vaskuläres EDS
Publikationen
V01 Morris, Shaine & Orbach, Darren & Geva, Tal & N Singh, Michael & Gauvreau, Kimberlee & Lacro, Ronald. (2011). Increased Vertebral Artery Tortuosity Index Is Associated With Adverse Outcomes in Children and Young Adults With Connective Tissue Disorders. Circulation. 124. 388-96. 10.1161/CIRCULATIONAHA.110.990549. 2011
V02 Böckler D, Meisenbacher K, Peters AS, Grond-Ginsbach C, Bischoff MS (2017). Endovascular treatment of genetically linked aortic diseases. Gefässchirurgie 2017 22 (Suppl 1):S1–S7 2017
V03 Carter, Jocelyn & Fenves, Andrew. (2017). Understanding Vascular-Type Ehlers-Danlos Syndrome and Avoiding Vascular Complications. Proceedings (Baylor University. Medical Center). 30. 52-53. 10.1080/08998280.2017.11929525. 2017
V04 Abayazeed, Aly & Hayman, Emily & Moghadamfalahi, Mana & Cain, Darren. (2014). Vascular type Ehlers-Danlos Syndrome with fatal spontaneous rupture of a right common iliac artery dissection: Case report and review of literature. Journal of radiology case reports. 8. 63-9. 10.3941/jrcr.v8i2.1568. 2014
V05 Shalhub S, Black JH, Cecchi AC, Xu Z, Griswold BF, Safi HJ, Milewicz DM, McDonnell NB (2014). Molecular diagnosis in vascular Ehlers-Danlos syndrome predicts pattern of arterial involvement and outcomes. J Vasc Surg. 2014 Jul;60(1):160-9. 2014
V06 Cikach F, Desai MY, Roselli EE & Kalahasti V (2018). Thoracic aortic aneurysm: How to counsel, when to refer. Cleveland Clinic Journal of Medicine Volume 85 • Number 6 June 2018 2018
V07 Colin, Geoffrey & Goffette, P & Beauloye, C & Hammer, F. (2015). Successful endovascular treatment of delayed arterial rupture from celiac artery dissection in a patient with type IV Ehlers-Danlos syndrome. Diagnostic and interventional imaging. 12. 10.1016/j.diii.2015.08.004. 2015
V08 Judith Z. Goldfinger, Jonathan L. Halperin, Michael L. Marin, Allan S. Stewart, Kim A. Eagle, Valentin Fuster, Thoracic Aortic Aneurysm and Dissection, Journal of the American College of Cardiology, Volume 64, Issue 16, 2014, Pages 1725-1739, doi:10.1016/j.jacc.2014.08.025. 2014
V09 Cikla, Ulas & Sadighi, Alireza & Bauer, Andrew & K Başkaya, Mustafa. (2014). Fatal Ruptured Blood Blister-like Aneurysm of Middle Cerebral Artery Associated with Ehlers-Danlos Syndrome Type VIII (Periodontitis Type). Journal of neurological surgery reports. 75. e210-e213. 10.1055/s-0034-1387185. 2014
V10 Maraj, Bharat & Harding-Theobald, Emily & Karaki, Fatima. (2018). Vascular Ehlers-Danlos Syndrome Presenting as a Pulsatile Neck Mass: a Case Report and Review of Literature. Journal of General Internal Medicine. 33. 10.1007/s11606-018-4445-3. 2018
V11 Robertson E, Dilworth C, Lu Y, Hambly B, Jeremy R (2015). Molecular mechanisms of inherited thoracic aortic disease - from gene variant to surgical aneurysm. Biophys Rev (2015) 7:105–115, DOI 10.1007/s12551-014-0147-1 2015
V12 Adham S, Trystram D, Albuisson J, Domigo V, Legrand A, Jeunemaitre X, Frank M (2018). Pathophysiology of carotid-cavernous fistulas in vascular Ehlers-Danlos syndrome: a retrospective cohort and comprehensive review. Orphanet Journal of Rare Diseases (2018) 13:100, https://doi.org/10.1186/s13023-018-0842-2 2018
V13 M. Dousa, Khalid & Khan, Kashif & Alencherry, Ben & Deng, Lin & A. Salata, Robert. (2018). Renal infarction in vascular Ehlers–Danlos syndrome masquerading as pyelonephritis. Clinical Case Reports. 6. 10.1002/ccr3.1639. 2018
V14 Pereira, Filipa & Cardoso, Teresa & sa, Paula. (2015). Spontaneous Dissection of the Renal Artery in Vascular Ehlers-Danlos Syndrome. Case reports in critical care. 2015. 804252. 10.1155/2015/804252. 2015
V15 Afshinnia, Farsad & Sundaram, Baskaran & Rao, Panduranga & Stanley, James & Bitzer, Markus. (2013). Evaluation of characteristics, associations and clinical course of isolated spontaneous renal artery dissection. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association. 28. 10.1093/ndt/gft073. 2013
V16 Raval, Mehul & Lee, Cheong & Phade, Sachin & Riaz, Ahsun & Eskandari, Mark & Rodriguez, Heron. (2011). Covered stent use after subclavian artery and vein injuries in the setting of vascular Ehlers-Danlos. Journal of vascular surgery. 55. 542-4. 10.1016/j.jvs.2011.08.002. 2011
Publikationen aus anderen Verzeichnissen
B01 Busch et al. (2016). Vascular type Ehlers-Danlos syndrome is associated with platelet dysfunction and low vitamin D serum concentration. Orphanet Journal of Rare Diseases (2016) 11:111 2016
G04 Chiarelli N, Carini G, Zoppi N, Ritelli M, ColombiM (2018) Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome. PLoS ONE 13(1): e0191220. https://doi.org/ 10.1371/journal.pone.0191220 2018
K04 D'hondt, Sanne & Van Damme, Tim & Malfait, Fransiska. (2017). Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome: A systematic review. GENETICS in MEDICINE. 20. 10.1038/gim.2017.138. 2017
Sy05 Byers PH, Belmont J, Black J, De Backer J, Frank M, Jeunemaitre X, Johnson D, Pepin M, Robert L, Sanders L, Wheeldon N. 2017. Diagnosis, natural history, and management in vascular Ehlers–Danlos syndrome. Am J Med Genet Part C Semin Med Genet 175C:40–47. 2017
Sonstiges
Zahnmedizin
Praesentationen
Z_Prae01 Grunert J & Sturm K (2018) .Die Ehlers-Danlos-Syndrome und deren zahnmedizinische Herausforderungen - mit Notizen. Abgerufen von https://www.instabile-halswirbelsaeule.de/wp-content/uploads/2017/11/Zahnmediziner-Konferenz-mit-Notizen.pdf 2018
Z_Prae02 Grunert J & Sturm K (2018) .Die Ehlers-Danlos-Syndrome und deren zahnmedizinische Herausforderungen - mit Notizen. Abgerufen von https://www.holy-shit-i-am-sick.de/wp-content/uploads/2017/11/Zahnmediziner-Konferenz-ohne-Notizen.pdf 2018
Z_Prae03 Mitakides J (2015). Musculoskeletal Headaches in EDS. Abgerufen von https://drive.google.com/file/d/0Bxk_ErqWO4kcd2trRmptWjJhN2M/view 2015
Z_Prae04 Mitakides J (2014). TMJ, Cervical Instability and EDS. Abgerufen von https://drive.google.com/file/d/0Bxk_ErqWO4kceHo2eUJHUDJhZHc/view 2014
Publikationen
Z04 Ferré FC, Frank M, Gogly B, et al. Oral phenotype and scoring of vascular Ehlers-Danlos syndrome: a case - control study. BMJ Open 2012;2:e000705. doi:10.1136/ bmjopen-2011-000705 2012
Z06 Osica P, Janas A (2015). Dental problems in a patient with the classic type of Ehlers-Danlos syndrome--a case report. Dev Period Med. 2015 Oct-Dec;19(4):496-502. 2015
Z07 Reinstein, Eyal & Dawn Delozier, Celia & Simon, Ziv & Bannykh, Serguei & L Rimoin, David & Curry, Cynthia. (2012). Ehlers–Danlos syndrome type VIII is clinically heterogeneous disorder associated primarily with periodontal disease, and variable connective tissue features. European journal of human genetics : EJHG. 21. 10.1038/ejhg.2012.132. 2012
Z08 Şakar, Olcay & Aren, Gamze & Mumcu, Zeynep & Ünalan, Fatma & Aksakallı, Nihan & Güney Tolgay, Ceren. (2015). Familial gigantiform cementoma with Ehlers - Danlos syndrome: A report of 2 cases. The journal of advanced prosthodontics. 7. 178-82. 10.4047/jap.2015.7.2.178. 2015
Z10 Carola Nualart Grollmus, Zacy & Morales-Chávez, Mariana & Silvestre, Francisco-J. (2007). Periodontal disease associated to systemic genetic disorders. Medicina oral, patología oral y cirugía bucal. 12. E211-5. 2007
Z11 Schiffman, Eric & Ohrbach, Richard & Truelove, Edmond & Look, John & Anderson, Gary & Goulet, Jean-Paul & List, Thomas & Svensson, Peter & Gonzalez, Yoly & Lobbezoo, Frank & Michelotti, Ambra & L Brooks, Sharon & Ceusters, Werner & Drangsholt, Mark & Ettlin, Dominik & Gaul, Charly & Goldberg, Louis & A Haythornthwaite, Jennifer & Hollender, Lars & Dworkin, Samuel. (2014). Diagnostic Criteria for Temporomandibular Disorders (DC/TMD) for Clinical and Research Applications: Recommendations of the International RDC/TMD Consortium Network* and Orofacial Pain Special Interest Group†. Journal of oral & facial pain and headache. 28. 6-27. 10.11607/jop.1151. 2014
Z13 John E. Mitakides (2018) The effect of Ehlers-Danlos syndromes on TMJ function and craniofacial pain, CRANIO®, 36:2, 71-72, DOI: 10.1080/08869634.2018.1435092 2018
Publikationen aus anderen Verzeichnissen
G08 Kapferer-Seebacher et al. (2016). Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement. The American Journal of Human Genetics 99, 1005–1014, 2016
Sy17 Mitakides J, Tinkle BT. 2017. Oral and mandibular manifestations in the Ehlers–Danlos syndromes. Am J Med Genet Part C Semin Med Genet 175C:220–225. 2017
Sonstiges

Datum

20. Mai 2019

Tags

Wissenswertes

Disclaimer

Die Homepage erhebt keinen Anspruch auf Vollständigkeit und / oder Verbindlichkeit. Es handelt sich hier um eine Zusammenfassung als Informationsmaterial und Wegweiser für Betroffene und behandelnde Ärzte. Diese ersetzt keinen Besuch beim Arzt oder Facharzt.

Fotos Adobe Stock.

©2019 Deutsche Ehlers-Danlos-Initiative e.V. All Rights Reserved. Designed By JoomShaper

Search