Cited by 360Connective tissue disorders researchDermatological and Skeletal DisordersOral and gingival health research

The DOI matches its Crossref record.

The Ehlers‐Danlos Syndrome

Steinmann, Beat, Royce, Peter M., Superti‐Furga, Andrea·2002·Connective Tissue and Its Heritable Disorders

DOI 10.1002/0471221929.ch9

Open this paper in CoChat — free account

Abstract

The Ehlers-Danlos syndrome (EDS) is a heterogeneous group of heritable disorders of connective tissue characterized by articular hypermobility, skin hyperextensibility, and tissue fragility affecting skin, ligaments, joints, blood vessels, and internal organs. In this chapter, we try to cover the EDS in a comprehensive and authoritative way, to consider the different aspects as objectively as possible, and to clarify earlier concepts and conclusions that today are no longer tenable. To give the reader an idea of how knowledge was gained, references are often cited in a historical sequence.

Integrity signals

Registry

Crossref · 10.1002/0471221929.ch9

Cites

Statistics

Recomputing p-values needs the paper’s full text.

Claims the paper makes

This paper’s full text isn’t openly available, so its claims and self-check weren’t run. The registry and citation checks still apply.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Still being checked.

Sorted by citations

Collagens, modifying enzymes and their mutations in humans, flies and worms
Myllyharju, J. (2003) · Trends in Genetics · doi:10.1016/j.tig.2003.11.004 · Cited by 1,229
Aortic Dissection: New Frontiers in Diagnosis and Management
Nienaber, C. A., & Eagle, K. A. (2003) · Circulation · doi:10.1161/01.cir.0000087009.16755.e4 · Cited by 652
The rare coagulation disorders – review with guidelines for management from the United Kingdom Haemophilia Centre Doctors' Organisation
Bolton‐Maggs, P. H. B., Perry, D. J., Chalmers, E. A., Parapia, L. A., Wilde, J., Williams, M. D., Collins, P. W., Kitchen, S., Dolan, G., & Mumford, A. D. (2004) · Haemophilia · doi:10.1111/j.1365-2516.2004.00944.x · Cited by 543
Picrosirius Red Staining
Lattouf, R., Younes, R., Lutomski, D., Naaman, N., Godeau, G., Senni, K., & Changotade, S. (2014) · Journal of Histochemistry & Cytochemistry · doi:10.1369/0022155414545787 · Cited by 524
Hypermobile Ehlers–Danlos syndrome (a.k.a. Ehlers–Danlos syndrome Type III and Ehlers–Danlos syndrome hypermobility type): Clinical description and natural history
Tinkle, B., Castori, M., Berglund, B., Cohen, H., Grahame, R., Kazkaz, H., & Levy, H. (2017) · American Journal of Medical Genetics Part C: Seminars in Medical Genetics · doi:10.1002/ajmg.c.31538 · Cited by 499
Inactivation of the Lysyl Oxidase Gene Lox Leads to Aortic Aneurysms, Cardiovascular Dysfunction, and Perinatal Death in Mice
Mäki, J. M., Rasanen, J. P., Tikkanen, H., Sormunen, R. T., Mäkikallio, K., Kivirikko, K. I., & Soininen, R. (2002) · Circulation · doi:10.1161/01.cir.0000038109.84500.1e · Cited by 484
Collagen VI related muscle disorders
Lampe, A., & Bushby, K. M. D. (2005) · Journal of Medical Genetics · doi:10.1136/jmg.2002.002311 · Cited by 395
The Ehlers–Danlos syndrome, a disorder with many faces
De Paepe, A., & Malfait, F. (2012) · Clinical Genetics · doi:10.1111/j.1399-0004.2012.01858.x · Cited by 379
Ehlers-Danlos syndrome type IV
Germain, D. P. (2007) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-2-32 · Cited by 375
Expert consensus document on management of cardiovascular diseases during pregnancy The Task Force on the Management of Cardiovascular Diseases During Pregnancy of the European Society of Cardiology
(2003) · European Heart Journal · doi:10.1016/s0195-668x(03)00098-8 · Cited by 338
The Ehlers–Danlos syndromes
Malfait, F., Castori, M., Francomano, C. A., Giunta, C., Kosho, T., & Byers, P. H. (2020) · Nature Reviews Disease Primers · doi:10.1038/s41572-020-0194-9 · Cited by 346
Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type
Malfait, F., WENSTRUP, R. J., & Paepe, A. D. (2010) · Genetics in Medicine · doi:10.1097/gim.0b013e3181eed412 · Cited by 303
The Zinc Transporter SLC39A13/ZIP13 Is Required for Connective Tissue Development; Its Involvement in BMP/TGF-β Signaling Pathways
Fukada, T., Civic, N., Furuichi, T., Shimoda, S., Mishima, K., Higashiyama, H., Idaira, Y., Asada, Y., Kitamura, H., Yamasaki, S., et al. (2008) · PLoS ONE · doi:10.1371/journal.pone.0003642 · Cited by 287
Self-citation
Lysyl Oxidase Is Essential for Normal Development and Function of the Respiratory System and for the Integrity of Elastic and Collagen Fibers in Various Tissues
Mäki, J. M., Sormunen, R. T., Lippo, S., Kaarteenaho–Wiik, R., Soininen, R., & Myllyharju, J. (2005) · American Journal Of Pathology · doi:10.1016/s0002-9440(10)61183-2 · Cited by 279
Acute Aortic Syndromes and Thoracic Aortic Aneurysm
Ramanath, V. S., Oh, J. K., Sundt, T. M., & Eagle, K. A. (2009) · Mayo Clinic Proceedings · doi:10.1016/s0025-6196(11)60566-1 · Cited by 265
Ehlers-Danlos syndromes and Marfan syndrome
Callewaert, B., Malfait, F., Loeys, B., & De Paepe, A. (2008) · Best Practice & Research Clinical Rheumatology · doi:10.1016/j.berh.2007.12.005 · Cited by 257
Syndrome of occipitoatlantoaxial hypermobility, cranial settling, and Chiari malformation Type I in patients with hereditary disorders of connective tissue
Milhorat, T. H., Bolognese, P. A., Nishikawa, M., McDonnell, N. B., & Francomano, C. A. (2007) · Journal of Neurosurgery Spine · doi:10.3171/spi-07/12/601 · Cited by 256
Biochemical Markers of Bone Metabolism
Shaw, N., & Högler, W. (2011) · Elsevier eBooks · doi:10.1016/b978-0-12-382040-2.10015-2 · Cited by 254
The Ehlers–Danlos syndromes, rare types
Brady, A. F., Demirdas, S., Fournel‐Gigleux, S., Ghali, N., Giunta, C., Kapferer‐Seebacher, I., Kosho, T., Mendoza‐Londono, R., Pope, M. F., Rohrbach, M., et al. (2017) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31550 · Cited by 258
Haploinsufficiency of TNXB Is Associated with Hypermobility Type of Ehlers-Danlos Syndrome
Zweers, M. C., Bristow, J., Steijlen, P. M., Dean, W. B., Hamel, B. C., Otero, M., Kucharekova, M., Boezeman, J. B., & Schalkwijk, J. (2003) · The American Journal of Human Genetics · doi:10.1086/376564 · Cited by 242
Connective Tissue Disorders with Spontaneous Spinal Cerebrospinal Fluid Leaks and Intracranial Hypotension: A Prospective Study
Schievink, W. I., Gordon, O. K., & Tourje, J. (2004) · Neurosurgery · doi:10.1227/01.neu.0000097200.18478.7b · Cited by 238
Bleeding and bruising in patients with Ehlers–Danlos syndrome and other collagen vascular disorders
Paepe, A. D., & Malfait, F. (2004) · British Journal of Haematology · doi:10.1111/j.1365-2141.2004.05220.x · Cited by 241
Pain in Ehlers-Danlos Syndrome Is Common, Severe, and Associated with Functional Impairment
Voermans, N. C., Knoop, H., Bleijenberg, G., & van Engelen, B. G. (2010) · Journal of Pain and Symptom Management · doi:10.1016/j.jpainsymman.2009.12.026 · Cited by 237
Musculoskeletal complaints, physical activity and health-related quality of life among patients with the Ehlers–Danlos syndrome hypermobility type
Rombaut, L., Malfait, F., Cools, A., De Paepe, A., & Calders, P. (2010) · Disability and Rehabilitation · doi:10.3109/09638280903514739 · Cited by 236
The Ehlers-Danlos syndrome: on beyond collagens
Mao, J.-R., & Bristow, J. (2001) · Journal of Clinical Investigation · doi:10.1172/jci12881 · Cited by 233
Natural history and manifestations of the hypermobility type Ehlers–Danlos syndrome: A pilot study on 21 patients
Castori, M., Camerota, F., Celletti, C., Danese, C., Santilli, V., Saraceni, V. M., & Grammatico, P. (2010) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33231 · Cited by 228
Ehlers-Danlos Syndrome, hypermobility type: an underdiagnosed hereditary connective tissue disorder with mucocutaneous, articular, and systemic manifestations
Castori, M. (2012) · ISRN Dermatology · doi:10.5402/2012/751768 · Cited by 222
Spondylocheiro Dysplastic Form of the Ehlers-Danlos Syndrome—An Autosomal-Recessive Entity Caused by Mutations in the Zinc Transporter Gene SLC39A13
Giunta, C., Elçioglu, N. H., Albrecht, B., Eich, G., Chambaz, C., Janecke, A. R., Yeowell, H., Weis, M., Eyre, D. R., Kraenzlin, M., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.05.001 · Cited by 218
Self-citation
High prevalence of eosinophilic esophagitis in patients with inherited connective tissue disorders
Abonia, J. P., Wen, T., Stucke, E. M., Grotjan, T., Griffith, M. S., Kemme, K. A., Collins, M. H., Putnam, P. E., Franciosi, J. P., von Tiehl, K. F., et al. (2013) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2013.02.030 · Cited by 195
Collagen V is a dominant regulator of collagen fibrillogenesis: dysfunctional regulation of structure and function in a corneal-stroma-specificCol5a1-null mouse model
Sun, M., Chen, S., Adams, S. M., Florer, J. B., Liu, H., Kao, W. W. ‐., WENSTRUP, R. J., & Birk, D. E. (2011) · Journal of Cell Science · doi:10.1242/jcs.091363 · Cited by 200
Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2
Leuchter, R. H., Alanay, Y., Bank, R. A., Campos‐Xavier, B., Zankl, A., Superti‐Furga, A., & Bonafé, L. (2004) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30231 · Cited by 189
Self-citation
Ehlers-Danlos syndrome, classical type
Bowen, J. M., Sobey, G. J., Burrows, N. P., Colombi, M., Lavallee, M. E., Malfait, F., & Francomano, C. A. (2017) · American Journal of Medical Genetics Part C: Seminars in Medical Genetics · doi:10.1002/ajmg.c.31548 · Cited by 184
Untitled work
Hamonet (2016) · doi:10.1111/j.1365-2141.2008.06994.x · Cited by 174
Murine Model of the Ehlers-Danlos Syndrome
WENSTRUP, R. J., Florer, J. B., Davidson, J. M., Phillips, C. L., Pfeiffer, B. J., Menezes, D. W., Chervoneva, I., & Birk, D. E. (2006) · Journal of Biological Chemistry · doi:10.1074/jbc.m511528200 · Cited by 180
Fatigue Is a Frequent and Clinically Relevant Problem in Ehlers-Danlos Syndrome
Voermans, N. C., Knoop, H., van de Kamp, N., Hamel, B. C. J., Bleijenberg, G., & van Engelen, B. G. M. (2009) · Seminars in Arthritis and Rheumatism · doi:10.1016/j.semarthrit.2009.08.003 · Cited by 171
The genetic basis of the joint hypermobility syndromes
Malfait, F., Hakim, A. J., Paepe, A. D., & Grahame, R. (2006) · Rheumatology · doi:10.1093/rheumatology/kei268 · Cited by 169
Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood
Malfait, F., Symoens, S., De Backer, J., Hermanns-Lê, T., Sakalihasan, N., Lapière, C. M., Coucke, P., & De Paepe, A. (2007) · Human Mutation · doi:10.1002/humu.20455 · Cited by 167
Neuromuscular involvement in various types of Ehlers–Danlos syndrome
Voermans, N. C., van Alfen, N., Pillen, S., Lammens, M. M. Y., Schalkwijk, J., Zwarts, M. J., van Rooij, I. A. L. M., Hamel, B. C. J., & van Engelen, B. G. M. (2009) · Annals of Neurology · doi:10.1002/ana.21643 · Cited by 168
Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria
Symoens, S., Syx, D., Malfait, F., Callewaert, B., De Backer, J., Vanakker, O., Coucke, P., & De Paepe, A. (2012) · Human Mutation · doi:10.1002/humu.22137 · Cited by 165
Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
Baumann, M., Giunta, C., Krabichler, B., Rüschendorf, F., Zoppi, N., Colombi, M., Bittner, R. E., Quijano-Roy, S., Muntoni, F., Cirak, S., et al. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.12.004 · Cited by 162
Self-citation
Regulation of Collagen Fibril Nucleation and Initial Fibril Assembly Involves Coordinate Interactions with Collagens V and XI in Developing Tendon
WENSTRUP, R. J., Smith, S. M.-L., Florer, J. B., Zhang, G., Beason, D. P., Seegmiller, R. E., Soslowsky, L. J., & Birk, D. E. (2011) · Journal of Biological Chemistry · doi:10.1074/jbc.m111.223693 · Cited by 164
Clinical and Genetic Features of Vascular Ehlers-Danlos Syndrome
Germain, D. P. (2002) · Annals of Vascular Surgery · doi:10.1007/s10016-001-0229-y · Cited by 161
Re‐writing the natural history of pain and related symptoms in the joint hypermobility syndrome/Ehlers–Danlos syndrome, hypermobility type
Castori, M., Morlino, S., Celletti, C., Ghibellini, G., Bruschini, M., Grammatico, P., Blundo, C., & Camerota, F. (2013) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.36315 · Cited by 159
Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome
Miyake, N., Kosho, T., Mizumoto, S., Furuichi, T., Hatamochi, A., Nagashima, Y., Arai, E., Takahashi, K., Kawamura, R., Wakui, K., et al. (2010) · Human Mutation · doi:10.1002/humu.21300 · Cited by 156
Hypermobile Ehlers‐Danlos syndromes: Complex phenotypes, challenging diagnoses, and poorly understood causes
Gensemer, C., Burks, R., Kautz, S. A., Judge, D. P., Lavallee, M. E., & Norris, R. A. (2020) · Developmental Dynamics · doi:10.1002/dvdy.220 · Cited by 162
Prevalence of aortic root dilation in the Ehlers-Danlos syndrome
WENSTRUP, R. J., Meyer, R. A., Lyle, J. S., Hoechstetter, L., Rose, P. S., Levy, H. P., & Francomano, C. A. (2002) · Genetics in Medicine · doi:10.1097/00125817-200205000-00003 · Cited by 145
Novel Types of Mutation Responsible for the Dermatosparactic Type of Ehlers–Danlos Syndrome (Type VIIC) and Common Polymorphisms in the ADAMTS2 Gene
Colige, A., Nuytinck, L., Hausser, I., van Essen, A. J., Thiry, M., Herens, C., Adès, L. C., Malfait, F., Paepe, A. D., Franck, P., et al. (2004) · Journal of Investigative Dermatology · doi:10.1111/j.0022-202x.2004.23406.x · Cited by 139
Congenital and Idiopathic Scoliosis: Clinical and Genetic Aspects
Giampietro, P. F., Blank, R. D., Raggio, C., Merchant, S., Jacobsen, F. S., Faciszewski, T., Shukla, S. K., Greenlee, A. R., Reynolds, C., & Schowalter, D. B. (2003) · Clinical Medicine & Research · doi:10.3121/cmr.1.2.125 · Cited by 139
Clinical and Genetic Features of Ehlers–Danlos Syndrome Type IV, the Vascular Type
(2001) · New England Journal of Medicine · doi:10.1056/nejm200102013440522 · Cited by 138
Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance
Burkitt Wright, E. M. M., Spencer, H. L., Daly, S. B., Manson, F. D. C., Zeef, L. A. H., Urquhart, J., Zoppi, N., Bonshek, R., Tosounidis, I., Mohan, M., et al. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.05.007 · Cited by 135
A Connective Tissue Disorder Caused by Mutations of the Lysyl Hydroxylase 3 Gene
Salo, A. M., Cox, H., Farndon, P. A., Moss, C., Grindulis, H., Risteli, M., Robins, S. P., & Myllylä, R. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.09.004 · Cited by 135
The molecular basis of classic Ehlers-Danlos syndrome: A comprehensive study of biochemical and molecular findings in 48 unrelated patients
Malfait, F., Coucke, P. J., Symoens, S., Loeys, B., Nuytinck, L., & Paepe, A. D. (2004) · Human Mutation · doi:10.1002/humu.20107 · Cited by 135
Pregnancy and the Ehlers-Danlos syndrome: a retrospective study in a Dutch population
Lind, J., & Wallenburg, H. C. S. (2002) · Acta Obstetricia Et Gynecologica Scandinavica · doi:10.1034/j.1600-0412.2002.810403.x · Cited by 136
Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: Identification of 18 COL5A1 and 2 COL5A2 novel mutations
Ritelli, M., Dordoni, C., Venturini, M., Chiarelli, N., Quinzani, S., Traversa, M., Zoppi, N., Vascellaro, A., Wischmeijer, A., Manfredini, E., et al. (2013) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-8-58 · Cited by 134
Muscle mass, muscle strength, functional performance, and physical impairment in women with the hypermobility type of Ehlers‐Danlos syndrome
Rombaut, L., Malfait, F., Wandele, I. D., Taes, Y., Thijs, Y., Paepe, A. D., & Calders, P. (2012) · Arthritis Care & Research · doi:10.1002/acr.21726 · Cited by 137
Lysyl oxidases in mammalian development and certain pathological conditions.
Mäki, J. M. (2009) · PubMed · doi:10.14670/hh-24.651 · Cited by 130
Structural Abnormalities of the Cornea and Lid Resulting from Collagen V Mutations
Segev, F., Héon, E., Cole, W. G., WENSTRUP, R. J., Young, F., Slomovic, A. R., Rootman, D. S., Whitaker‐Menezes, D., Chervoneva, I., & Birk, D. E. (2006) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.05-0771 · Cited by 126
Medication, surgery, and physiotherapy among patients with the hypermobility type of Ehlers-Danlos syndrome
Rombaut, L., Malfait, F., De Wandele, I., Cools, A., Thijs, Y., De Paepe, A., & Calders, P. (2011) · Archives of Physical Medicine and Rehabilitation · doi:10.1016/j.apmr.2011.01.016 · Cited by 124
Total absence of the α2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems
Malfait, F., Symoens, S., Coucke, P., Nunes, L., De Almeida, S., & De Paepe, A. (2006) · Journal of Medical Genetics · doi:10.1136/jmg.2005.038224 · Cited by 124
The Relationship Between Hypermobile Ehlers-Danlos Syndrome (hEDS), Postural Orthostatic Tachycardia Syndrome (POTS), and Mast Cell Activation Syndrome (MCAS)
Kucharik, A. H., & Chang, C. (2020) · Clinical Reviews in Allergy & Immunology · doi:10.1007/s12016-019-08755-8 · Cited by 122
Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene
Malfait, F., Syx, D., Vlummens, P., Symoens, S., Nampoothiri, S., Hermanns-Lê, T., Van Laer, L., & De Paepe, A. (2010) · Human Mutation · doi:10.1002/humu.21355 · Cited by 122
Glycosylation catalyzed by lysyl hydroxylase 3 is essential for basement membranes
Ruotsalainen, H. J., Sipilä, L., Vapola, M. H., Sormunen, R. T., Salo, A. M., Uitto, L., Mercer, D. K., Robins, S. P., Risteli, M., Aszódi, A., et al. (2006) · Journal of Cell Science · doi:10.1242/jcs.02780 · Cited by 126
The Ehlers-Danlos Syndrome
Malfait, F., & Paepe, A. D. (2013) · Advances in experimental medicine and biology · doi:10.1007/978-94-007-7893-1_9 · Cited by 126
Increased Carotid Wall Stress in Vascular Ehlers-Danlos Syndrome
Boutouyrie, P., Germain, D. P., Fiessinger, J., Laloux, B., Perdu, J., & Laurent, S. (2004) · Circulation · doi:10.1161/01.cir.0000121741.50315.c2 · Cited by 128
Autonomic symptom burden in the hypermobility type of Ehlers–Danlos syndrome: A comparative study with two other EDS types, fibromyalgia, and healthy controls
De Wandele, I., Calders, P., Peersman, W., Rimbaut, S., De Backer, T., Malfait, F., De Paepe, A., & Rombaut, L. (2014) · Seminars in Arthritis and Rheumatism · doi:10.1016/j.semarthrit.2014.05.013 · Cited by 119
Promotion of vesicular zinc efflux by ZIP13 and its implications for spondylocheiro dysplastic Ehlers–Danlos syndrome
Jeong, J., Walker, J. M., Wang, F., Park, J. G., Palmer, A. E., Giunta, C., Rohrbach, M., Steinmann, B. U., & Eide, D. J. (2012) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1211775110 · Cited by 114
Self-citation
Premature aggregation of type IV collagen and early lethality in lysyl hydroxylase 3 null mice
Rautavuoma, K., Takaluoma, K., Sormunen, R. T., Myllyharju, J., Kivirikko, K. I., & Soininen, R. (2004) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0404966101 · Cited by 116
Keloids and Hypertrophic Scars
Nemeth, A. J. (1993) · The Journal of Dermatologic Surgery and Oncology · doi:10.1111/j.1524-4725.1993.tb00418.x · Cited by 112
Balance, gait, falls, and fear of falling in women with the hypermobility type of Ehlers‐Danlos syndrome
Rombaut, L., Malfait, F., Wandele, I. D., Thijs, Y., Palmans, T., Paepe, A. D., & Calders, P. (2011) · Arthritis Care & Research · doi:10.1002/acr.20557 · Cited by 114
Molecular genetics in classic Ehlers–Danlos syndrome
Malfait, F., & Paepe, A. D. (2005) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.30070 · Cited by 109
Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation
Rohrbach, M., Vandersteen, A., Yiş, U., Serdaroglu, G., Ataman, E., Chopra, M., Garcia, S., Jones, K., Kariminejad, A., Kraenzlin, M., et al. (2011) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-6-46 · Cited by 106
The third activity for lysyl hydroxylase 3: galactosylation of hydroxylysyl residues in collagens in vitro
Wang, C., Luosujärvi, H., Heikkinen, J., Risteli, M., Uitto, L., & Myllylä, R. (2002) · Matrix Biology · doi:10.1016/s0945-053x(02)00071-9 · Cited by 104
Ehlers–Danlos Syndrome and Postural Tachycardia Syndrome: A relationship study
Wallman, D., Weinberg, J., & Hohler, A. D. (2014) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2014.03.002 · Cited by 100
Joint hypermobility is more common in children with chronic fatigue syndrome than in healthy controls
Barron, D. F., COHEN, B. A., Geraghty, M. T., Violand, R., & Rowe, P. C. (2002) · The Journal of Pediatrics · doi:10.1067/mpd.2002.127496 · Cited by 98
Bleeding in the heritable connective tissue disorders: Mechanisms, diagnosis and treatment
Malfait, F., & Paepe, A. D. (2009) · Blood Reviews · doi:10.1016/j.blre.2009.06.001 · Cited by 94
Impairment and impact of pain in female patients with Ehlers-Danlos syndrome: A comparative study with fibromyalgia and rheumatoid arthritis
Rombaut, L., Malfait, F., De Paepe, A., Rimbaut, S., Verbruggen, G., De Wandele, I., & Calders, P. (2011) · Arthritis & Rheumatism · doi:10.1002/art.30337 · Cited by 91
Tissue-specific Changes in the Hydroxylysine Content and Cross-links of Collagens and Alterations in Fibril Morphology in Lysyl Hydroxylase 1 Knock-out Mice
Takaluoma, K., Hyry, M., Lantto, J., Sormunen, R. T., Bank, R. A., Kivirikko, K. I., Myllyharju, J., & Soininen, R. (2006) · Journal of Biological Chemistry · doi:10.1074/jbc.m608830200 · Cited by 92
Disorders of Connective Tissue
Burrows, N., & Lovell, C. R. (2004) · Wiley eBooks · doi:10.1002/9780470750520.ch46 · Cited by 91
Self-reported quality of life, anxiety and depression in individuals with Ehlers-Danlos syndrome (EDS): a questionnaire study
Berglund, B., Pettersson, C., Pigg, M., & Kristiansson, P. (2015) · BMC Musculoskeletal Disorders · doi:10.1186/s12891-015-0549-7 · Cited by 89
Clinical and molecular overlap between myopathies and inherited connective tissue diseases
Voermans, N. C., Bönnemann, C. G., Huijing, P. A., Hamel, B. C. J., Kuppevelt, T. H. V., HAAN, A. D., Schalkwijk, J., van Engelen, B. G. M., & Jenniskens, G. J. (2008) · Neuromuscular Disorders · doi:10.1016/j.nmd.2008.05.017 · Cited by 89
Clinical Features of Ehlers-Danlos Syndrome
Yen, J., Lin, S., Chen, M., & Niu, D. (2006) · Journal of the Formosan Medical Association · doi:10.1016/s0929-6646(09)60187-x · Cited by 89
A new Ehlers–Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility‐related manifestations
Kosho, T., Miyake, N., Hatamochi, A., Takahashi, J., Kato, H., Miyahara, T., Igawa, Y., Yasui, H., Ishida, T., Ono, K., et al. (2010) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33498 · Cited by 88
Testing for osteogenesis imperfecta in cases of suspected non-accidental injury
Marlowe, A., Pepin, M. G., & Byers, P. H. (2002) · Journal of Medical Genetics · doi:10.1136/jmg.39.6.382 · Cited by 86
Intracellular Post-Translational Modifications of Collagens
Myllyharju, J. (2005) · Topics in current chemistry · doi:10.1007/b103821 · Cited by 86
Ehlers-Danlos syndrome: classifications, oral manifestations, and dental considerations
Abel, M. D., & Carrasco, L. (2006) · Oral Surgery Oral Medicine Oral Pathology Oral Radiology and Endodontology · doi:10.1016/j.tripleo.2006.03.018 · Cited by 85
Neurological manifestations of Ehlers-Danlos syndrome(s): A review.
Castori, M., & Voermans, N. C. (2014) · Europe PMC (PubMed Central) · Cited by 82
Brittle cornea syndrome and its delineation from the kyphoscoliotic type of Ehlers–Danlos syndrome (EDS VI): Report on 23 patients and review of the literature
Al‐Hussain, H., Zeisberger, S. M., Huber, P., Giunta, C., & Steinmann, B. U. (2003) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.20326 · Cited by 83
Self-citation
Mutation in Cyclophilin B That Causes Hyperelastosis Cutis in American Quarter Horse Does Not Affect Peptidylprolyl cis-trans Isomerase Activity but Shows Altered Cyclophilin B-Protein Interactions and Affects Collagen Folding
Ishikawa, Y., Vranka, J. A., Boudko, S. P., Pokidysheva, E. N., Mizuno, K., Zientek, K. D., Keene, D. R., Rashmir‐Raven, A. M., Nagata, K., Winand, N. J., et al. (2012) · Journal of Biological Chemistry · doi:10.1074/jbc.m111.333336 · Cited by 79
Transcriptome-Wide Expression Profiling in Skin Fibroblasts of Patients with Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type
Chiarelli, N., Carini, G., Zoppi, N., Dordoni, C., Ritelli, M., Venturini, M., Castori, M., & Colombi, M. (2016) · PLOS ONE · doi:10.1371/journal.pone.0161347 · Cited by 78
Mutation analysis of the PLOD1 gene: An efficient multistep approach to the molecular diagnosis of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA)
Giunta, C., Randolph, A. E., & Steinmann, B. U. (2005) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2005.04.014 · Cited by 78
Self-citation
Lysyl hydroxylase 3 (LH3) modifies proteins in the extracellular space, a novel mechanism for matrix remodeling
Salo, A. M., Wang, C., Sipilä, L., Sormunen, R. T., Vapola, M. H., Kervinen, P., Ruotsalainen, H. J., Heikkinen, J., & Myllylä, R. (2006) · Journal of Cellular Physiology · doi:10.1002/jcp.20596 · Cited by 76
Molecular Mechanism of α1(I)-Osteogenesis Imperfecta/Ehlers-Danlos Syndrome
Makareeva, E., Cabral, W. A., Marini, J. C., & Leikin, S. (2006) · Journal of Biological Chemistry · doi:10.1074/jbc.m511830200 · Cited by 75
Diagnostic power of aortic elastic properties in young patients with Marfan syndrome
Baumgartner, D., Baumgärtner, C., Mátyás, G., Steinmann, B. U., Löffler‐Ragg, J., Schermer, E., Schweigmann, U., Baldissera, I., Frischhut, B., Hess, J., et al. (2005) · Journal of Thoracic and Cardiovascular Surgery · doi:10.1016/j.jtcvs.2004.07.019 · Cited by 75
Self-citation
Lysyl hydroxylase 2 is a specific telopeptide hydroxylase, while all three isoenzymes hydroxylate collagenous sequences
Takaluoma, K., Lantto, J., & Myllyharju, J. (2007) · Matrix Biology · doi:10.1016/j.matbio.2007.01.002 · Cited by 74
Muscle–tendon tissue properties in the hypermobility type of Ehlers‐Danlos syndrome
Rombaut, L., Malfait, F., De Wandele, I., Mahieu, N., Thijs, Y., Segers, P., De Paepe, A., & Calders, P. (2012) · Arthritis Care & Research · doi:10.1002/acr.21592 · Cited by 71
Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers–Danlos syndrome (EDS VIA)
Giunta, C., Randolph, A. E., Al‐Gazali, L. I., Brunner, H. G., KRAENZLIN, M. E., & Steinmann, B. U. (2005) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30529 · Cited by 71
Self-citation
The phenotype of the musculocontractural type of Ehlers‐Danlos syndrome due to CHST14 mutations
Janecke, A. R., Li, B., Boehm, M., Krabichler, B., Rohrbach, M., Müller, T., Fuchs, I., Golas, G., Katagiri, Y., Ziegler, S. G., et al. (2016) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.37383 · Cited by 66
Self-citation
Connective tissue, Ehlers–Danlos syndrome(s), and head and cervical pain
Castori, M., Morlino, S., Ghibellini, G., Celletti, C., Camerota, F., & Grammatico, P. (2015) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31426 · Cited by 69
Evaluating for Suspected Child Abuse: Conditions That Predispose to Bleeding
Carpenter, S. L., Abshire, T. C., Anderst, J. D., Carpenter, S. L., Abshire, T. C., Anderst, J. D., Hord, J. D., Crouch, G. D., Hale, G. A., Mueller, B. U., et al. (2013) · PEDIATRICS · doi:10.1542/peds.2013-0196 · Cited by 66
Targeted Deletion of Collagen V in Tendons and Ligaments Results in a Classic Ehlers-Danlos Syndrome Joint Phenotype
Sun, M., Connizzo, B. K., Adams, S. M., Freedman, B. R., WENSTRUP, R. J., Soslowsky, L. J., & Birk, D. E. (2015) · American Journal Of Pathology · doi:10.1016/j.ajpath.2015.01.031 · Cited by 68

Authors: Steinmann, B., Royce, P. M., & Superti‐Furga, A.
Affiliations: University of Zurich (CH)
ORCID: Steinmann, Beat
Superti‐Furga, Andrea
Venue: Connective Tissue and Its Heritable Disorders
Publisher: Wiley
Published: 2002-05-10
Pages: 431-523
DOI: 10.1002/0471221929.ch9
OpenAlex: W1531218076
Cited by: 358
References: 0
Citations by year: 2026: 3 · 2025: 10 · 2024: 9 · 2023: 5 · 2022: 5 · 2021: 13 · 2020: 14 · 2019: 11 · 2018: 9 · 2017: 16 · 2016: 12 · 2015: 16 · 2014: 19 · 2013: 18 · 2012: 21
Type: other
Language: en
Open access: closed
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Dermatological and Skeletal Disorders
Health Sciences › Dentistry › Periodontics › Oral and gingival health research
Keywords: Ehlers-Danlos syndrome, hereditary connective tissue disorders, skin hyperextensibility, tissue fragility, ligamentous laxity, vascular fragility, internal organ involvement

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review

The Ehlers‐Danlos Syndrome

Abstract

Overview

Integrity signals

Verification

Claims the paper makes

Claims other papers make about this one

Citations

Cites

Cited by

Related

Metadata

Record

About these checks