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 sich um eine 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.
Öffentlich zugänglich
- Präsentationen (0)
-
Publikationen (0)
- Hypermobiles EDS (8)
- Hypermobility spectrum disorders (2)
- klassisches EDS (7)
- Übergeordnete Themen (4)
- Anästhesie (10)
- Blutgerinnung (4)
- Chirurgie (5)
- Dysautonomie (35)
- Endokrinologie (4)
- Genetik (15)
- Gastroenterologie und Ernährung (16)
- Gynäkologie (12)
- Haut (6)
- HNO und Logopaedie (3)
- Kardiologie (10)
- Mastzellenaktivierungssyndrom (19)
- Neurologie (15)
- Neurochirurgie (14)
- Orthopädie (16)
- Ophthalmologie (7)
- Psychologie und Psychiatrie (15)
- Paediatrie (6)
- Physiotherapie und Ergotherapie (5)
- Pulmologie (9)
- Radiologie (6)
- Schmerzen (12)
- Sonnologie (5)
- pEDS (13)
- Symposium 2017 (19)
- Vaskuläres EDS (20)
- Zahnmedizin (11)
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, Gaik, Malfait, Castori & Münster (2019). Anaesthesia recommendations for Ehlers-Danlos syndrome | 2019 |
| An_ Sons02 | Wiesmann, Gaik, Malfait, Castori & Leiterholt (2013). Handlungsempfehlungen zur Anästhesie bei Ehlers-Danlos Syndrom | 2019 |
| 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 |