Ehlers-Danlos Syndrome: Immunologic contrasts and connective tissue comparisons
Tài liệu tham khảo
Malfait, 2010, Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type, Genet. Med., 12, 597, 10.1097/GIM.0b013e3181eed412
Levy, 1993
Kapferer-Seebacher, 2020, Dental manifestations of ehlers-danlos syndromes: a systematic review, Acta Derm. Venereol., 100, 10.2340/00015555-3428
Malfait, 2017, The 2017 international classification of the Ehlers-Danlos syndromes, Am J Med Genet C Semin Med Genet, 175, 8, 10.1002/ajmg.c.31552
Byers, 2012, Heritable collagen disorders: the paradigm of the ehlers-danlos syndrome, J. Invest. Dermatol., 132, E6, 10.1038/skinbio.2012.3
Parfitt, 2000, Visceral aneurysms in Ehlers-Danlos syndrome: case report and review of the literature, J. Vasc. Surg., 31, 1248, 10.1067/mva.2000.105667
Beighton, 1970, Ehlers-Danlos syndrome, Ann. Rheum. Dis., 29, 332, 10.1136/ard.29.3.332
Eagleton, 2016, Arterial complications of vascular Ehlers-Danlos syndrome, J. Vasc. Surg., 64, 1869, 10.1016/j.jvs.2016.06.120
Byers, 1993, Vascular ehlers-danlos syndrome
Kamalanathan, 2019, Splenic rupture secondary to vascular ehlers-danlos syndrome managed by coil embolization of the splenic artery, Eur. J. Pediatr. Surg. Rep., 7, e83, 10.1055/s-0039-3399555
Miklovic, T. and V.C. Sieg, Ehlers danlos syndrome, in StatPearls. 2020: Treasure Island (FL).
Karthikeyan, 2018, Hypermobile Ehlers-Danlos syndrome and pregnancy, Obstet. Med., 11, 104, 10.1177/1753495X18754577
Morisaki, 2016, Genetics of hereditary large vessel diseases, J. Hum. Genet., 61, 21, 10.1038/jhg.2015.119
Adham, 2018, Pathophysiology of carotid-cavernous fistulas in vascular Ehlers-Danlos syndrome: a retrospective cohort and comprehensive review, Orphanet J. Rare Dis., 13, 100, 10.1186/s13023-018-0842-2
Kulas Soborg, 2017, Increased need for gastrointestinal surgery and increased risk of surgery-related complications in patients with ehlers-danlos syndrome: a systematic review, Dig. Surg., 34, 161, 10.1159/000449106
Gazit, 2016, Ehlers-Danlos syndrome-hypermobility type: a much neglected multisystemic disorder, Rambam Maimonides Med J, 7, 10.5041/RMMJ.10261
Castori, 2014, Neurological manifestations of Ehlers-Danlos syndrome(s): a review, Iran J Neurol, 13, 190
Bulbena, 2017, Psychiatric and psychological aspects in the Ehlers-Danlos syndromes, Am J Med Genet C Semin Med Genet, 175, 237, 10.1002/ajmg.c.31544
Cortini, 2018, Ehlers-Danlos syndromes and epilepsy: an updated review, Seizure, 57, 1, 10.1016/j.seizure.2018.02.013
Meester, 2017, Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome, Ann. Cardiothorac. Surg., 6, 582, 10.21037/acs.2017.11.03
Malfait, 1993
Giunta, 1993
Pinna, 2000, Genetic and developmental disorders of the oral mucosa: epidemiology; molecular mechanisms; diagnostic criteria; management, Periodontol, 80, 12, 10.1111/prd.12261
Peterson, 2018, Physical and mechanical therapies for lower limb symptoms in children with Hypermobility Spectrum Disorder and Hypermobile Ehlers-Danlos Syndrome: a systematic review, J. Foot Ankle Res., 11, 59, 10.1186/s13047-018-0302-1
Jansson, 2004, General joint laxity in 1845 Swedish school children of different ages: age- and gender-specific distributions, Acta Paediatr., 93, 1202, 10.1111/j.1651-2227.2004.tb02749.x
Beighton, 1986, International nosology of heritable disorders of connective tissue, Berlin, Am. J. Med. Genet., 29, 581, 10.1002/ajmg.1320290316
De Paepe, 2012, The Ehlers-Danlos syndrome, a disorder with many faces, Clin. Genet., 82, 1, 10.1111/j.1399-0004.2012.01858.x
Grahame, 2000, The revised (Brighton 1998) criteria for the diagnosis of benign joint hypermobility syndrome (BJHS), J. Rheumatol., 27, 1777
Hakim, 2003, A simple questionnaire to detect hypermobility: an adjunct to the assessment of patients with diffuse musculoskeletal pain, Int. J. Clin. Pract., 57, 163, 10.1111/j.1742-1241.2003.tb10455.x
Malfait, 2014, The Ehlers-Danlos syndrome, Adv. Exp. Med. Biol., 802, 129, 10.1007/978-94-007-7893-1_9
Abayazeed, 2014, Vascular type Ehlers-Danlos Syndrome with fatal spontaneous rupture of a right common iliac artery dissection: case report and review of literature, J. Radiol. Case Rep., 8, 63
Tinkle, 2009, The lack of clinical distinction between the hypermobility type of Ehlers-Danlos syndrome and the joint hypermobility syndrome (a.k.a. hypermobility syndrome), Am. J. Med. Genet., 149A, 2368, 10.1002/ajmg.a.33070
Castori, 2014, Nosology and inheritance pattern(s) of joint hypermobility syndrome and Ehlers-Danlos syndrome, hypermobility type: a study of intrafamilial and interfamilial variability in 23 Italian pedigrees, Am. J. Med. Genet., 164A, 3010, 10.1002/ajmg.a.36805
Colombi, 2015, Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders, Am J Med Genet C Semin Med Genet, 169C, 6, 10.1002/ajmg.c.31429
Berk, 2012, Cutis laxa: a review, J. Am. Acad. Dermatol., 66, 842 e1, 10.1016/j.jaad.2011.01.004
Kornak, 2008, Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2, Nat. Genet., 40, 32, 10.1038/ng.2007.45
Callewaert, 2008, Ehlers-Danlos syndromes and Marfan syndrome, Best Pract. Res. Clin. Rheumatol., 22, 165, 10.1016/j.berh.2007.12.005
Berglund, 2000, Living a restricted life with Ehlers-Danlos syndrome (EDS), Int. J. Nurs. Stud., 37, 111, 10.1016/S0020-7489(99)00067-X
Superti-Furga, 1988, Ehlers-Danlos syndrome type IV: a multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagen, J. Biol. Chem., 263, 6226, 10.1016/S0021-9258(18)68776-9
Byers, 1979, Clinical and ultrastructural heterogeneity of type IV Ehlers-Danlos syndrome, Hum. Genet., 47, 141, 10.1007/BF00273196
Pope, 1988, Type III collagen mutations in Ehlers Danlos syndrome type IV and other related disorders, Clin. Exp. Dermatol., 13, 285, 10.1111/j.1365-2230.1988.tb00709.x
Leistritz, 2011, COL3A1 haploinsufficiency results in a variety of Ehlers-Danlos syndrome type IV with delayed onset of complications and longer life expectancy, Genet. Med., 13, 717, 10.1097/GIM.0b013e3182180c89
Dordoni, 2016, Further delineation of FKBP14-related Ehlers-Danlos syndrome: a patient with early vascular complications and non-progressive kyphoscoliosis, and literature review, Am. J. Med. Genet., 170, 2031, 10.1002/ajmg.a.37728
Baumann, 2012, Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, Am. J. Hum. Genet., 90, 201, 10.1016/j.ajhg.2011.12.004
Zweers, 2003, Haploinsufficiency of TNXB is associated with hypermobility type of Ehlers-Danlos syndrome, Am. J. Hum. Genet., 73, 214, 10.1086/376564
Colige, 1999, Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene, Am. J. Hum. Genet., 65, 308, 10.1086/302504
Malfait, 2004, The natural history, including orofacial features of three patients with Ehlers-Danlos syndrome, dermatosparaxis type (EDS type VIIC), Am. J. Med. Genet., 131, 18, 10.1002/ajmg.a.30299
Chau, 2018, Allergic and immunologic dysfregulation in ehlers-danlos syndrome: a case series, J. Allergy Clin. Immunol., 141, AB125, 10.1016/j.jaci.2017.12.398
Hausser, 1994, Differential ultrastructural aberrations of collagen fibrils in Ehlers-Danlos syndrome types I-IV as a means of diagnostics and classification, Hum. Genet., 93, 394, 10.1007/BF00201664
Malfait, 2005, The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients, Hum. Mutat., 25, 28, 10.1002/humu.20107
Bergqvist, 1996, Ehlers-Danlos type IV syndrome. A review from a vascular surgical point of view, Eur. J. Surg., 162, 163
Faber, 2007, The successful use of recombinant factor VIIa in a patient with vascular-type Ehlers-Danlos syndrome, Acta Anaesthesiol. Scand., 51, 1277, 10.1111/j.1399-6576.2007.01416.x
Rombaut, 2010, Musculoskeletal complaints, physical activity and health-related quality of life among patients with the Ehlers-Danlos syndrome hypermobility type, Disabil. Rehabil., 32, 1339, 10.3109/09638280903514739
Kohn, 2020, The relationship between hypermobile ehlers-danlos syndrome (hEDS), postural orthostatic tachycardia syndrome (POTS), and mast cell activation syndrome (MCAS), Clin. Rev. Allergy Immunol., 58, 273, 10.1007/s12016-019-08755-8
