Ehlers-Danlos syndrome, classical type

International nosology of heritable disorders of connective tissue, Berlin, 1986

Beighton, P., de Paepe, A., Danks, D., Finidori, G., Gedde‐Dahl, T., Goodman, R., Hall, J. G., Hollister, D. W., Horton, W., McKusick, V. A., et al. (1988) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320290316 · Cited by 732 · see citing works

Type V collagen: heterotypic type I/V collagen interactions in the regulation of fibril assembly

Birk, D. E. (2001) · Micron · doi:10.1016/s0968-4328(00)00043-3 · Cited by 429 · see citing works

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 · see citing works

The Ehlers‐Danlos Syndrome

Steinmann, B., Royce, P. M., & Superti‐Furga, A. (2002) · Connective Tissue and Its Heritable Disorders · doi:10.1002/0471221929.ch9 · Cited by 358 · see citing works

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 288 · see citing works

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 · see citing works

Orthostatic intolerance and chronic fatigue syndrome associated with Ehlers-Danlos syndrome

Rowe, P. C., Barron, D. F., Calkins, H., Maumenee, I. H., Tong, P. Y., & Geraghty, M. T. (1999) · The Journal of Pediatrics · doi:10.1016/s0022-3476(99)70173-3 · Cited by 230 · see citing works

The Human Collagen Mutation Database 1998

Dalgleish, R. (1998) · Nucleic Acids Research · doi:10.1093/nar/26.1.253 · Cited by 219 · see citing works

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 · see citing works

Targeted mutation in the col5a2 gene reveals a regulatory role for type V collagen during matrix assembly

Andrikopoulos, K., Liu, X., Keene, D. R., Jaenisch, R., & Ramirez, F. (1995) · Nature Genetics · doi:10.1038/ng0195-31 · Cited by 217 · see citing works

Ehlers Danlos syndrome and gastrointestinal manifestations: a 20‐year experience at Mayo Clinic

Nelson, A. D., Mouchli, M. A., Valentin, N., Deyle, D., Pichurin, P., Acosta, A., & Camilleri, M. (2015) · Neurogastroenterology & Motility · doi:10.1111/nmo.12665 · Cited by 182 · see citing works

Rare Autosomal Recessive Cardiac Valvular Form of Ehlers-Danlos Syndrome Results from Mutations in the COL1A2 Gene That Activate the Nonsense-Mediated RNA Decay Pathway

Schwarze, U., Hata, R.-I., McKusick, V. A., Shinkai, H., Hoyme, H. E., Pyeritz, R. E., & Byers, P. H. (2004) · The American Journal of Human Genetics · doi:10.1086/420794 · Cited by 180 · see citing works

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 · see citing works

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 · see citing works

Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II.

Paepe, A. D., Nuytinck, L., Haußer, I., Anton‐Lamprecht, I., & Naeyaert, J. M. (1997) · Europe PMC (PubMed Central) · Cited by 165 · see citing works

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 · see citing works

Abnormal collagen fibril structure in the gravis form (type I) of Ehlers-Danlos syndrome.

Vogel, A., Holbrook, K. A., Steinmann, B. U., GITZELMANN, R., & Byers, P. H. (1979) · PubMed · Cited by 156 · see citing works

Differential ultrastructural aberrations of collagen fibrils in Ehlers-Danlos syndrome types I?IV as a means of diagnostics and classification

Haußer, I., & Anton‐Lamprecht, I. (1994) · Human Genetics · doi:10.1007/bf00201664 · Cited by 146 · see citing works

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 144 · see citing works

Null Alleles of the COL5A1 Gene of Type V Collagen Are a Cause of the Classical Forms of Ehlers-Danlos Syndrome (Types I and II)

Schwarze, U., Atkinson, M., Hoffman, G. G., Greenspan, D. S., & Byers, P. H. (2000) · The American Journal of Human Genetics · doi:10.1086/302933 · Cited by 136 · see citing works

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 · see citing works

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 · see citing works

Contemporary management of vascular complications associated with Ehlers-Danlos syndrome

Brooke, B. S., Arnaoutakis, G. J., McDonnell, N. B., & Black, J. H. (2009) · Journal of Vascular Surgery · doi:10.1016/j.jvs.2009.08.019 · Cited by 131 · see citing works

COL5A1 Haploinsufficiency Is a Common Molecular Mechanism Underlying the Classical Form of EDS

WENSTRUP, R. J., Florer, J. B., Willing, M. C., Giunta, C., Steinmann, B. U., Young, F., Susic, M., & Cole, W. G. (2000) · The American Journal of Human Genetics · doi:10.1086/302930 · Cited by 128 · see citing works

Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers‐danlos syndrome hypermobility type compared to other heritable connective tissue disorders

Colombi, M., Dordoni, C., Chiarelli, N., & Ritelli, M. (2015) · American Journal of Medical Genetics Part C: Seminars in Medical Genetics · doi:10.1002/ajmg.c.31429 · Cited by 127 · see citing works

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 125 · see citing works

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 · see citing works

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 · see citing works

A translocation interrupts the COL5A1 gene in a patient with Ehlers–Danlos syndrome and hypomelanosis of Ito

Toriello, H. V., Glover, T. W., Takahara, K., Byers, P. H., Miller, D. E., Higgins, J. V., & Greenspan, D. S. (1996) · Nature Genetics · doi:10.1038/ng0796-361 · Cited by 117 · see citing works

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 · see citing works

Oral health in prevalent types of Ehlers–Danlos syndromes

Coster, P. J. D., MARTENS, L. C., & Paepe, A. D. (2005) · Journal of Oral Pathology and Medicine · doi:10.1111/j.1600-0714.2004.00300.x · Cited by 105 · see citing works

Ullrich congenital muscular dystrophy: Connective tissue abnormalities in the skin support overlap with Ehlers–Danlos syndromes

Kirschner, J., Haußer, I., Zou, Y., Schreiber, G., Christen, H. ‐., Brown, S., Anton‐Lamprecht, I., Francesco Muntoni, A., Hanefeld, F. A., & Bönnemann, C. G. (2004) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30443 · Cited by 104 · see citing works

A splice-junction mutation in the region of COL5A1 that codes for the carboxyl propeptide of pro alpha 1(V) chains results in the gravis form of the Ehlers-Danlos syndrome (type I)

WENSTRUP, R. J. (1996) · Human Molecular Genetics · doi:10.1093/hmg/5.11.1733 · Cited by 102 · see citing works

Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome

Malfait, F., Symoens, S., Goemans, N., Gyftodimou, Y., Holmberg, E., López‐González, V., Mortier, G. R., Nampoothiri, S., Petersen, M. B., & Paepe, A. D. (2013) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-8-78 · Cited by 98 · see citing works

Ehlers–Danlos syndrome: how to diagnose and when to perform genetic tests

Sobey, G. (2015) · Archives of Disease in Childhood · doi:10.1136/archdischild-2013-304822 · Cited by 98 · cited 2× · see citing works

An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome.

Nicholls, A. C., Oliver, J. E., McCarron, S., Harrison, J. B., Greenspan, D. S., & Pope, F. M. (1996) · Journal of Medical Genetics · doi:10.1136/jmg.33.11.940 · Cited by 96 · see citing works

Echocardiographic findings in classical and hypermobile Ehlers–Danlos syndromes

McDonnell, N. B., Gorman, B. L., Mandel, K. W., Schurman, S. H., Assanah‐Carroll, A., Mayer, S. A., Najjar, S. S., & Francomano, C. A. (2006) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31035 · Cited by 92 · see citing works

Generalized joint hypermobility and temporomandibular disorders: inherited connective tissue disease as a model with maximum expression.

Coster, P. J. D., den Berghe, L. V., & MARTENS, L. C. (2005) · PubMed · doi:10.11607/jofph.1947 · Cited by 86 · see citing works

Absence of the inferior labial and lingual frenula in Ehlers-Danlos syndrome

Felice, C. D., Toti, P., Maggio, G. D., Parrini, S., & Bagnoli, F. (2001) · The Lancet · doi:10.1016/s0140-6736(00)04661-4 · Cited by 86 · see citing works

Cross-Sectional and Longitudinal Assessment of Aortic Root Dilation and Valvular Anomalies in Hypermobile and Classic Ehlers-Danlos Syndrome

Atzinger, C. L., Meyer, R. A., Khoury, P. R., Gao, Z., & Tinkle, B. T. (2011) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2010.11.023 · Cited by 83 · see citing works

Hereditary disorders of connective tissue: A guide to the emerging differential diagnosis

Murphy‐Ryan, M., Psychogios, A., & Lindor, N. M. (2010) · Genetics in Medicine · doi:10.1097/gim.0b013e3181e074f0 · Cited by 76 · see citing works

COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome

Symoens, S., Malfait, F., Renard, M., André, J., Haußer, I., Loeys, B., Coucke, P. J., & Paepe, A. D. (2008) · Human Mutation · doi:10.1002/humu.20887 · Cited by 66 · see citing works

The Gene Encoding Collagen α1(V) (COL5A1) Is Linked to Mixed Ehlers-Danlos Syndrome Type I/II

Burrows, N., Nicholls, A. C., Yates, J. R. W., Gatward, G., Sarathachandra, P., Richards, A. J., & Pope, F. M. (1996) · Journal of Investigative Dermatology · doi:10.1111/1523-1747.ep12348978 · Cited by 61 · see citing works

Familial Ehlers‐Danlos syndrome with lethal arterial events caused by a mutation in COL5A1

Monroe, G. R., Harakaľová, M., van der Crabben, S. N., Majoor‐Krakauer, D. F., Bertoli‐Avella, A. M., Moll, F. L., Oranen, B. I., Dooijes, D., Vink, A., Knoers, N. V. A. M., et al. (2015) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.36997 · Cited by 61 · see citing works

Arterial rupture in classic Ehlers–Danlos syndrome with COL5A1 mutation

Borck, G., Beighton, P., Wilhelm, C., Kohlhase, J., & Kubisch, C. (2010) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33541 · Cited by 59 · see citing works

High prevalence of radiological vertebral fractures in adult patients with Ehlers–Danlos syndrome

Mazziotti, G., Dordoni, C., Doga, M., Galderisi, F., Venturini, M., Calzavara‐Pinton, P., Maroldi, R., Giustina, A., & Colombi, M. (2015) · Bone · doi:10.1016/j.bone.2015.12.007 · Cited by 50 · see citing works

Molecular mechanisms of classical Ehlers-Danlos syndrome (EDS)

Mitchell, A. L., Schwarze, U., Jennings, J. F., & Byers, P. H. (2009) · Human Mutation · doi:10.1002/humu.21000 · Cited by 47 · see citing works

Quality of life in the classic and hypermobility types of Elhers‐Danlos syndrome

Castori, M., Camerota, F., Celletti, C., Grammatico, P., & Padua, L. (2009) · Annals of Neurology · doi:10.1002/ana.21934 · Cited by 46 · see citing works

A Novel Splice Variant in the N-propeptide of COL5A1 Causes an EDS Phenotype with Severe Kyphoscoliosis and Eye Involvement

Symoens, S., Malfait, F., Vlummens, P., Hermanns‐Lê, T., Syx, D., & Paepe, A. D. (2011) · PLoS ONE · doi:10.1371/journal.pone.0020121 · Cited by 44 · see citing works

Ehlers‐Danlos syndrome – 20 years experience with diagnosis and classification

Proske, S., Hartschuh, W., Enk, A. H., & Haußer, I. (2006) · JDDG Journal der Deutschen Dermatologischen Gesellschaft · doi:10.1111/j.1610-0387.2006.05958.x · Cited by 44 · see citing works

Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers‐Danlos syndrome

Giunta, C., Nuytinck, L., Raghunath, M., Haußer, I., Paepe, A. D., & Steinmann, B. U. (2002) · American Journal of Medical Genetics · doi:10.1002/ajmg.10373 · Cited by 43 · see citing works

Delineation of Ehlers–Danlos syndrome phenotype due to the c.934C>T, p.(Arg312Cys) mutation in COL1A1: Report on a three‐generation family without cardiovascular events, and literature review

Colombi, M., Dordoni, C., Venturini, M., Zanca, A., Calzavara‐Pinton, P., & Ritelli, M. (2016) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.38035 · Cited by 43 · see citing works

Compound heterozygosity for a disease-causing G1489D and disease-modifying G530S substitution inCOL5A1 of a patient with the classical type of Ehlers-Danlos syndrome: An explanation of intrafamilial variability?

Giunta, C., & Steinmann, B. U. (2000) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(20000103)90:1 · Cited by 42 · see citing works

Superior mesenteric artery aneurysm in a 9‐year‐old boy with classical Ehlers–Danlos syndrome

de Leeuw, K., Goorhuis, J. F., Tielliu, I. F. J., Symoens, S., Malfait, F., Paepe, A. D., van Tintelen, J. P., & Hulscher, J. B. F. (2012) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.34420 · Cited by 42 · see citing works

Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type

Castori, M., Dordoni, C., Morlino, S., Sperduti, I., Ritelli, M., Valiante, M., Chiarelli, N., Zanca, A., Celletti, C., Venturini, M., et al. (2015) · American Journal of Medical Genetics Part C: Seminars in Medical Genetics · doi:10.1002/ajmg.c.31425 · Cited by 40 · see citing works

Ehlers Danlos Syndrome: An Unusual Presentation You Need to Know about

Karaa, A., & Stoler, J. M. (2013) · Case Reports in Pediatrics · doi:10.1155/2013/764659 · Cited by 39 · see citing works

Common Iliac Artery Aneurysm and Spontaneous Dissection with Contralateral Iatrogenic Common Iliac Artery Dissection in Classic Ehlers-Danlos Syndrome

Mehta, S., Dhar, S. U., & Birnbaum, Y. (2012) · International Journal of Angiology · doi:10.1055/s-0032-1325118 · Cited by 36 · see citing works

The Cornea in Classic Type Ehlers-Danlos Syndrome: Macro- and Microstructural Changes

Villani, E., Garoli, E., Bassotti, A., Magnani, F., Tresoldi, L., Nucci, P., & Ratiglia, R. (2013) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.13-12837 · Cited by 35 · see citing works

Spontaneous Ruptured Dissection of the Right Common Iliac Artery in a Patient with Classic Ehlers–Danlos Syndrome Phenotype

Gaines, R., Tinkle, B. T., Halandras, P. M., Al-Nouri, O., Crisostomo, P., & Cho, J. S. (2015) · Annals of Vascular Surgery · doi:10.1016/j.avsg.2014.10.036 · Cited by 34 · see citing works

Rescue of migratory defects of Ehlers-Danlos syndrome fibroblasts in vitro by type V collagen but not insulin-like binding protein-1

Viglio, S., Zoppi, N., Sangalli, A., Gallanti, A., Barlati, S., Mottes, M., Colombi, M., & Valli, M. (2008) · Journal of Investigative Dermatology · doi:10.1038/jid.2008.33 · Cited by 28 · see citing works

BstUI and Dpnll RFLPs at the COL5A1 gene

Greenspan, D. S., & Pasquinelli, A. E. (1994) · Human Molecular Genetics · doi:10.1093/hmg/3.2.385-a · Cited by 27 · see citing works

Giant bladder diverticulum in Ehlers-Danlos syndrome type I causing outflow obstruction

BURROWS, Monk, Harrison, & Pope, F. M. (1998) · Clinical and Experimental Dermatology · doi:10.1046/j.1365-2230.1998.00338.x · Cited by 26 · see citing works

Ehlers–Danlos syndrome – a commonly misunderstood group of conditions

Sobey, G. J. (2014) · Clinical Medicine · doi:10.7861/clinmedicine.14-4-432 · Cited by 24 · see citing works

Successful Endovascular Treatment of a Ruptured Superior Mesenteric Artery in a Patient with Ehlers‒Danlos Syndrome

Yasuda, S., Imoto, K., Uchida, K., Machida, D., Yanagi, H., Sugiura, T., Kurosawa, K., & Masuda, M. (2013) · Annals of Vascular Surgery · doi:10.1016/j.avsg.2013.01.004 · Cited by 22 · see citing works

Skin signs in Ehlers–Danlos syndrome: clinical tests and para-clinical methods

Remvig, L., Duhn, P. H., Ullman, S., Arokoski, J. P., Jurvelin, J. S., Safi, A., Jensen, F., Farholt, S., Hove, H. D., & Juul‐Kristensen, B. (2010) · Scandinavian Journal of Rheumatology · doi:10.3109/03009741003781977 · Cited by 22 · see citing works

Contribution of skin biometrology to the diagnosis of the Ehlers–Danlos syndrome in a prospective series of 41 patients

Catala‐Pétavy, C., Machet, L., Georgesco, G., Pétavy, F., Maruani, A., & Vaillant, L. (2009) · Skin Research and Technology · doi:10.1111/j.1600-0846.2009.00379.x · Cited by 21 · see citing works

Functional adaptation of tendon and skeletal muscle to resistance training in three patients with genetically verified classic Ehlers Danlos Syndrome

Møller, M., Kjær, M., Andersen, R. L., Magnusson, S. P., & Nielsen, R. B. (2019) · Muscles Ligaments and Tendons Journal · doi:10.32098/mltj.03.2014.09 · Cited by 21 · see citing works

Ligneous Periodontitis and Ehlers‐Danlos Syndrome

Pierro, V. S. S., Vazquez‐Sullca, R., Vieira, Á. S. B., Takiya, C. M., Carakushansky, G., & Feres‐Filho, E. J. (2006) · Journal of Periodontology · doi:10.1902/jop.2006.77.1.123 · Cited by 18 · see citing works

Assessment of skin extensibility and joint hypermobility in patients with spontaneous cervical artery dissection and Ehlers–Danlos syndrome

Heidbreder, A., Ringelstein, E. B., Dittrich, R., Nabavi, D. G., Metze, D., & Kuhlenbäumer, G. (2008) · Journal of Clinical Neuroscience · doi:10.1016/j.jocn.2007.08.001 · Cited by 14 · see citing works

Ultrastructural and histological findings on examination of skin in osteogenesis imperfecta

Balasubramanian, M., Wagner, B. E., Peres, L. C., Sobey, G. J., Parker, M. J., Dalton, A., Arundel, P., & Bishop, N. J. (2014) · Clinical Dysmorphology · doi:10.1097/mcd.0000000000000066 · Cited by 13 · see citing works

Ehlers-Danlos Syndrome in Athletes

Schroeder, E. L., & Lavallee, M. E. (2006) · Current Sports Medicine Reports · doi:10.1097/01.csmr.0000306439.59477.83 · Cited by 11 · see citing works

The Ultrastructural and Histophotometric Study of Elastic and Collagen Fibers in Type II Ehlers-Danlos Syndrome and Subclinical Forms

Moraes, M. A. M. D. (2000) · Ultrastructural Pathology · doi:10.1080/01913120050132859 · Cited by 11 · see citing works

Multifaceted Dermal Ultrastructural Clues for Ehlers-Danlos Syndrome with Arterial Rupture and Type I Collagen R-to-C Substitution

Hermanns‐Lê, T., & Pierard, G. (2007) · American Journal of Dermatopathology · doi:10.1097/dad.0b013e318156d783 · Cited by 8 · see citing works

Ehlers-Danlos Syndrome (Two Cases)

Beighton, P., & Wells, R. S. (1968) · Proceedings of the Royal Society of Medicine · doi:10.1177/003591576806101013 · Cited by 7 · see citing works

Ehlers–Danlos Syndrome

Byers, P. H. (2013) · Elsevier eBooks · doi:10.1016/b978-0-12-383834-6.00161-0 · Cited by 6 · see citing works

Classic Ehlers-Danlos syndrome: case report and brief review of literature.

Morais, P., Ferreira, O., Magina, S., Silva, C., Leão, M., Maia, A. M., & Azevedo, F. (2013) · PubMed · Cited by 5 · see citing works

Ehlers-Danlos syndromes: Revised nosology, Villefranche, 1997

Beighton, P., Paepe, A. D., Steinmann, B., Tsipouras, P., & Wenstrup, R. J. (1998) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19980428)77:1

The extracellular matrix as a multitasking player in disease

Theocharis, A., Manou, D., & Karamanos, N. (2019) · The FEBS Journal · doi:10.1111/febs.14818 · Cited by 403 · see citing works

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 328 · see citing works

Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome

Meester, J., Verstraeten, A., Schepers, D., Alaerts, M., Laer, L. V., & Loeys, B. (2017) · Annals of Cardiothoracic Surgery · doi:10.21037/acs.2017.11.03 · Cited by 309 · see citing works

Biomaterials to Mimic and Heal Connective Tissues

Freedman, B. R., & Mooney, D. J. (2019) · Advanced Materials · doi:10.1002/adma.201806695 · Cited by 230 · see citing works

Biomechanics and structure of the cornea: implications and association with corneal disorders

Ma, J., Wang, Y., Wei, P., & Jhanji, V. (2018) · Survey of Ophthalmology · doi:10.1016/j.survophthal.2018.05.004 · Cited by 136 · see citing works

Postural tachycardia syndrome and other forms of orthostatic intolerance in Ehlers-Danlos syndrome

Roma, M., Marden, C. L., De Wandele, I., Francomano, C. A., & Rowe, P. C. (2018) · Autonomic Neuroscience · doi:10.1016/j.autneu.2018.02.006 · Cited by 133 · see citing works

Vascular aspects of the Ehlers-Danlos Syndromes

Malfait, F. (2018) · Matrix Biology · doi:10.1016/j.matbio.2018.04.013 · Cited by 113 · see citing works

Contemporary approach to joint hypermobility and related disorders

Castori, M., & Hakim, A. (2017) · Current Opinion in Pediatrics · doi:10.1097/mop.0000000000000541 · Cited by 105 · see citing works

Cellular and Molecular Mechanisms in the Pathogenesis of Classical, Vascular, and Hypermobile Ehlers‒Danlos Syndromes

Chiarelli, N., Ritelli, M., Zoppi, N., & Colombi, M. (2019) · Genes · doi:10.3390/genes10080609 · Cited by 82 · see citing works

Ehlers-Danlos syndromes

Ghali, N., Sobey, G. J., & Burrows, N. (2019) · BMJ · doi:10.1136/bmj.l4966 · Cited by 60 · see citing works

Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives

Ritelli, M., Venturini, M., Cinquina, V., Chiarelli, N., & Colombi, M. (2020) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-020-01470-0 · Cited by 47 · see citing works

An update on the new classification of Ehlers‐Danlos syndrome and review of the causes of bleeding in this population

Jesudas, R., Chaudhury, A., & Laukaitis, C. M. (2019) · Haemophilia · doi:10.1111/hae.13800 · Cited by 43 · see citing works

Ehlers-Danlos syndromes: state of the art on clinical practice guidelines

Sulli, A., Talarico, R., Scirè, C. A., Avcin, T., Castori, M., Ferraris, A., Frank, C., Grunert, J., Paolino, S., Bombardieri, S., et al. (2018) · RMD Open · doi:10.1136/rmdopen-2018-000790 · Cited by 44 · see citing works

Multifaced Roles of the αvβ3 Integrin in Ehlers–Danlos and Arterial Tortuosity Syndromes’ Dermal Fibroblasts

Zoppi, N., Chiarelli, N., Ritelli, M., & Colombi, M. (2018) · International Journal of Molecular Sciences · doi:10.3390/ijms19040982 · Cited by 37 · see citing works

Molecular insights in the pathogenesis of classical Ehlers-Danlos syndrome from transcriptome-wide expression profiling of patients’ skin fibroblasts

Chiarelli, N., Carini, G., Zoppi, N., Ritelli, M., & Colombi, M. (2019) · PLOS ONE · doi:10.1371/journal.pone.0211647 · Cited by 35 · see citing works

Bone Disease in Patients with Ehlers–Danlos Syndromes

Basalom, S., & Rauch, F. (2020) · Current Osteoporosis Reports · doi:10.1007/s11914-020-00568-5 · Cited by 35 · see citing works

Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome

Ritelli, M., Cinquina, V., Venturini, M., Pezzaioli, L., Formenti, A. M., Chiarelli, N., & Colombi, M. (2019) · Genes · doi:10.3390/genes10020135 · Cited by 33 · see citing works

Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers‐Danlos syndrome patients

Colombi, M., Dordoni, C., Venturini, M., Ciaccio, C., Morlino, S., Chiarelli, N., Zanca, A., Calzavara‐Pinton, P., Zoppi, N., Castori, M., et al. (2017) · Clinical Genetics · doi:10.1111/cge.13052 · Cited by 34 · see citing works

Placing joint hypermobility in context: traits, disorders and syndromes

Morlino, S., & Castori, M. (2023) · British Medical Bulletin · doi:10.1093/bmb/ldad013 · Cited by 31 · see citing works

Pregnancy outcomes in women with Ehlers-Danlos Syndrome

Spiegel, E., Nicholls-Dempsey, L., Czuzoj‐Shulman, N., & Abenhaim, H. A. (2020) · The Journal of Maternal-Fetal & Neonatal Medicine · doi:10.1080/14767058.2020.1767574 · Cited by 28 · see citing works

Clinical and molecular characteristics of 168 probands and 65 relatives with a clinical presentation of classical Ehlers–Danlos syndrome

Colman, M., Syx, D., Wandele, I. D., Dhooge, T., Symoens, S., & Malfait, F. (2021) · Human Mutation · doi:10.1002/humu.24258 · Cited by 28 · see citing works

Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers–Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility

Ghali, N., Baker, D., Brady, A. F., Burrows, N., Cervi, E., Cilliers, D. D., Frank, M., Germain, D. P., HULMES, D. J. S., Jacquemont, M., et al. (2019) · Genetics in Medicine · doi:10.1038/s41436-019-0470-9 · Cited by 28 · see citing works

Electron microscopy in the diagnosis of Ehlers–Danlos syndromes: correlation with clinical and genetic investigations

Angwin, C., Ghali, N., Baker, D., Brady, A. F., Pope, F. M., Vandersteen, A., Wagner, B. E., Ferguson, D. J. P., & van Dijk, F. S. (2019) · British Journal of Dermatology · doi:10.1111/bjd.18165 · Cited by 29 · see citing works

Structure and Function of the Skin

McGrath, J. A., & Uitto, J. (2024) · Wiley eBooks · doi:10.1002/9781119709268.rook002 · Cited by 28 · see citing works

Ehlers-Danlos Syndrome in Pregnancy: A Review

Kang, J., Hanif, M., Mirza, E., & Jaleel, S. (2020) · European Journal of Obstetrics & Gynecology and Reproductive Biology · doi:10.1016/j.ejogrb.2020.10.033 · Cited by 26 · see citing works

ZIP13: A Study of Drosophila Offers an Alternative Explanation for the Corresponding Human Disease

Xiao, G., & Zhou, B. (2018) · Frontiers in Genetics · doi:10.3389/fgene.2017.00234 · Cited by 24 · see citing works

Use of Cluster Analysis to Delineate Symptom Profiles in an Ehlers-Danlos Syndrome Patient Population

Schubart, J. R., Schaefer, É., Hakim, A. J., Francomano, C. A., & Bascom, R. (2019) · Journal of Pain and Symptom Management · doi:10.1016/j.jpainsymman.2019.05.013 · Cited by 24 · see citing works

Resource utilization and multidisciplinary care needs for patients with Ehlers–Danlos syndrome

Jones, J. T., Black, W. R., Cogan, W., & Callen, E. F. (2022) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.2057 · Cited by 23 · see citing works

Bridging the Diagnostic Gap for Hypermobile Ehlers‐Danlos Syndrome and Hypermobility Spectrum Disorders: Evidence of a Common Extracellular Matrix Fragmentation Pattern in Patient Plasma as a Potential Biomarker

Ritelli, M., Chiarelli, N., Cinquina, V., Bertini, V., Piantoni, S., Caproli, A., Pina, S. E. L. D., Franceschini, F., Zarattini, G., Gandy, W., et al. (2024) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.63857 · Cited by 23 · see citing works

The Ehlers-Danlos Syndromes

Colman, M., Paepe, A. D., & Malfait, F. (2023) · Springer eBooks · doi:10.1007/978-3-031-23488-0_47 · Cited by 24 · see citing works

Combination of common mtDNA variants results in mitochondrial dysfunction and a connective tissue dysregulation

Schaefer, P. M., Alves, L. S., Lvova, M., Huang, J. Y., Rathi, K. S., Janssen, K. A., Butic, A., Yardeni, T., Morrow, R. M., Lott, M. T., et al. (2022) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2212417119 · Cited by 22 · see citing works

Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers‐Danlos syndrome

Ayoub, S., Ghali, N., Angwin, C., Baker, D., Baffini, S., Brady, A. F., Uzielli, M. L. G., Giunta, C., Johnson, D. S., Kosho, T., et al. (2020) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.61523 · Cited by 21 · see citing works

Atypical variants in COL1A1 and COL3A1 associated with classical and vascular Ehlers-Danlos syndrome overlap phenotypes: expanding the clinical phenotype based on additional case reports

Colman, M., Castori, M., Micale, L., Ritelli, M., Colombi, M., Ghali, N., van Dijk, F., Marsili, L., Weeks, A., Vandersteen, A., et al. (2022) · Clinical and Experimental Rheumatology · doi:10.55563/clinexprheumatol/kzkq6y · Cited by 21 · see citing works

Cutaneous Manifestations of Child Abuse and Their Differential Diagnosis

Bilo, R. A. C., Oranje, A. P., Shwayder, T., & Hobbs, C. J. (2012) · Springer eBooks · doi:10.1007/978-3-642-29287-3 · Cited by 21 · see citing works

Impact of Intrinsic Muscle Weakness on Muscle–Bone Crosstalk in Osteogenesis Imperfecta

Gremminger, V. L., & Phillips, C. L. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22094963 · Cited by 20 · see citing works

Congenital Adrenal Hyperplasia and Ehlers-Danlos Syndrome

Marino, R. M., Moresco, A., Garrido, N. P., Ramírez, P., & Belgorosky, A. (2022) · Frontiers in Endocrinology · doi:10.3389/fendo.2022.803226 · Cited by 20 · see citing works

Building the foundation for a community-generated national research blueprint for inherited bleeding disorders: research priorities for mucocutaneous bleeding disorders

Sidonio, R. F., Bryant, P., Paola, J. D., Hale, S. A., Heiman, M., Horowitz, G. S., Humphrey, C., Jaffray, J., Joyner, L. C., Kasthuri, R. S., et al. (2023) · Expert Review of Hematology · doi:10.1080/17474086.2023.2171983 · Cited by 20 · see citing works

The Role of Cell Adhesion and Cytoskeleton Dynamics in the Pathogenesis of the Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders

Malek, S., & Köster, D. V. (2021) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2021.649082 · Cited by 19 · see citing works

Animal Models of Ehlers–Danlos Syndromes: Phenotype, Pathogenesis, and Translational Potential

Vroman, R., Malfait, A., Miller, R. E., Malfait, F., & Syx, D. (2021) · Frontiers in Genetics · doi:10.3389/fgene.2021.726474 · Cited by 20 · see citing works

Mechanobiology in the Comorbidities of Ehlers Danlos Syndrome

Royer, S. P., & Han, S. J. (2022) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2022.874840 · Cited by 18 · see citing works

Compendium of causative genes and their encoded proteins for common monogenic disorders

Apgar, T. L., & Sanders, C. R. (2021) · Protein Science · doi:10.1002/pro.4183 · Cited by 17 · see citing works

A frameshift variant in the COL 5A1 gene in a cat with Ehlers‐Danlos syndrome

Spycher, M., Bauer, A., Jagannathan, V., Frizzi, M., Lucia, M. D., & Leeb, T. (2018) · Animal Genetics · doi:10.1111/age.12727 · Cited by 17 · see citing works

A classical Ehlers-Danlos syndrome family with incomplete presentation diagnosed by molecular testing

Colombi, M., Dordoni, C., Cinquina, V., Venturini, M., & Ritelli, M. (2018) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2017.10.005 · Cited by 16 · see citing works

Next-Generation Sequencing of Connective Tissue Genes in Patients with Classical Ehlers-Danlos Syndrome

Junkiert-Czarnecka, A., Pilarska-Deltow, M., Bąk, A., Heise, M., Latos‐Bieleńska, A., Zaremba, J., Bartoszewska-Kubiak, A., & Haus, O. (2022) · Current Issues in Molecular Biology · doi:10.3390/cimb44040099 · Cited by 16 · see citing works

In Vivo Biomechanical Measurements of the Cornea

Li, F., Wang, K., & Liu, Z. (2023) · Bioengineering · doi:10.3390/bioengineering10010120 · Cited by 17 · see citing works

A family with Classical Ehlers-Danlos Syndrome (cEDS), mild bone fragility and without vascular complications, caused by the p.Arg312Cys mutation in COL1A1

Duong, J., Rideout, A. L., MacKay, S. B., Beis, J., Parkash, S., Schwarze, U., Horne, S. G., & Vandersteen, A. (2019) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2019.103730 · Cited by 16 · see citing works

Provider Knowledge and Experience in Care, Management, and Education of Pediatric Ehlers-Danlos syndrome

Jones, J. T., & Black, W. R. (2022) · Global Pediatric Health · doi:10.1177/2333794x221112841 · Cited by 15 · see citing works

Absence of Collagen Flowers on Electron Microscopy and Identification of (Likely) Pathogenic COL5A1 Variants in Two Patients

Angwin, C., Brady, A. F., Colombi, M., Ferguson, D. J. P., Pollitt, R. C., Pope, F. M., Ritelli, M., Symoens, S., Ghali, N., & van Dijk, F. S. (2019) · Genes · doi:10.3390/genes10100762 · Cited by 15 · see citing works

Survey of Ehlers‒Danlos Patients’ ophthalmic surgery experiences

Louie, A. T.-H., MEYERLE, C. B., Francomano, C. A., Srikumaran, D. S., Merali, F. I., Doyle, J. J., Bower, K. S., Bloom, L. C., Boland, M. V., Mahoney, N. R., et al. (2020) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.1155 · Cited by 15 · see citing works

Shoulder and elbow pathology in the female athlete: sex-specific considerations

Wessel, L. E., Eliasberg, C. D., Bowen, E., & Sutton, K. M. (2020) · Journal of Shoulder and Elbow Surgery · doi:10.1016/j.jse.2020.10.020 · Cited by 14 · see citing works

Pathogenic mechanisms in genetically defined Ehlers–Danlos syndromes

Syx, D., & Malfait, F. (2024) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2024.06.001 · Cited by 14 · see citing works

Molecular alterations due to Col5a1 haploinsufficiency in a mouse model of classic Ehlers–Danlos syndrome

Machol, K., Polak, U., Weisz‐Hubshman, M., Song, I.-W., Chen, S., Jiang, M., Chen, Y., Weis, M. A., Keene, D. R., Eyre, D. W., et al. (2021) · Human Molecular Genetics · doi:10.1093/hmg/ddab323 · Cited by 13 · see citing works

Dermatologic manifestations and diagnostic assessments of the Ehlers-Danlos syndromes: A clinical review

Doolan, B. J., Lavallee, M. E., Haußer, I., Pope, F. M., Seneviratne, S. L., Winship, I., & Burrows, N. (2023) · Journal of the American Academy of Dermatology · doi:10.1016/j.jaad.2023.01.034 · Cited by 12 · see citing works

Clinical-Genomic Analysis of 1261 Patients with Ehlers–Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome)

Wilson, G. N., & Tonk, V. S. (2024) · Current Issues in Molecular Biology · doi:10.3390/cimb46030166 · Cited by 14 · see citing works

The Ehlers–Danlos Syndromes against the Backdrop of Inborn Errors of Metabolism

Damme, T. V., Colman, M., Syx, D., & Malfait, F. (2022) · Genes · doi:10.3390/genes13020265 · Cited by 13 · see citing works

Comprehensive genetic screening for vascular Ehlers–Danlos syndrome through an amplification‐based next‐generation sequencing system

Yamaguchi, T., Hayashi, S., Hayashi, D., Matsuyama, T., Koitabashi, N., Ogiwara, K., Noda, M., Nakada, C., Fujiki, S., Furutachi, A., et al. (2022) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.62982 · Cited by 11 · see citing works

Hypermobility in children

Coles, W. J., Copeman, A., & Davies, K. (2017) · Paediatrics and Child Health · doi:10.1016/j.paed.2017.12.001 · Cited by 11 · see citing works

Ehlers–Danlos Syndrome: Not Just Joint Hypermobility

Bregant, T., & Klopcić-Spevak, M. (2018) · Case Reports in Medicine · doi:10.1155/2018/5053825 · Cited by 11 · see citing works

Ehlers–Danlos Syndromes

Burrows, N. (2019) · Wiley eBooks · doi:10.1002/9781119142812.ch93 · Cited by 11 · see citing works

A Clinical Qualification Protocol Highlights Overlapping Genomic Influences and Neuro-Autonomic Mechanisms in Ehlers–Danlos and Long COVID-19 Syndromes

Wilson, G. N. (2023) · Current Issues in Molecular Biology · doi:10.3390/cimb45070379 · Cited by 10 · see citing works

Barriers to the Diagnosis, Care, and Management of Pediatric Patients With Ehlers-Danlos Syndrome in the United States: A Qualitative Analysis

Black, W. R., Black, L. L., & Jones, J. T. (2023) · Global Pediatric Health · doi:10.1177/2333794x231212081 · Cited by 10 · see citing works

Ehlers Danlos syndrome, kyphoscoliotic type due to Lysyl Hydroxylase 1 deficiency in two children without congenital or early onset kyphoscoliosis

van Dijk, F. S., Mancini, G. M. S., Maugeri, A., & Cobben, J. M. (2017) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2017.07.011 · Cited by 10 · see citing works

Clinical Analysis Supports Articulo-Autonomic Dysplasia as a Unifying Pathogenic Mechanism in Ehlers-Danlos Syndrome and Related Conditions

Wilson, G. N. (2019) · Journal of Biosciences and Medicines · doi:10.4236/jbm.2019.76010 · Cited by 10 · see citing works

Joint hypermobility in children: a neglected sign needing more attention

Castori, M. (2020) · Minerva Pediatrics · doi:10.23736/s0026-4946.20.05766-7 · Cited by 10 · see citing works

Arterial complications in classical Ehlers-Danlos syndrome: a case series

Angwin, C., Brady, A. F., Pope, F. M., Vandersteen, A., Baker, D., Cheema, H., Sobey, G. J., Johnson, D. S., von Klemperer, K., Kazkaz, H., et al. (2020) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2019-106689 · Cited by 10 · see citing works

Non-oral manifestations in adults with a clinical and molecularly confirmed diagnosis of periodontal Ehlers-Danlos syndrome

Angwin, C., Zschocke, J., Kammin, T., Björck, E., Bowen, J., Brady, A. F., Burns, H., Cummings, C. A., Gardner, R., Ghali, N., et al. (2023) · Frontiers in Genetics · doi:10.3389/fgene.2023.1136339 · Cited by 8 · see citing works

Gene silencing of extracellular matrix protein 1 (ECM1) results in phenotypic alterations of dermal fibroblasts reminiscent of clinical features of lichen sclerosus

Utsunomiya, N., Utsunomiya, A., Chino, T., Hasegawa, M., & Oyama, N. (2020) · Journal of Dermatological Science · doi:10.1016/j.jdermsci.2020.06.010 · Cited by 8 · see citing works

Skin fragility and wound management in Ehlers–Danlos syndromes: a report by the International Consortium on Ehlers–Danlos Syndromes and Hypermobility Spectrum Disorders Skin Working Group

Angwin, C., Doolan, B. J., Haußer, I., Labine, B., Lavallee, M. E., Mackay, D. R., Pope, F. M., Seneviratne, S. L., Winship, I., & Burrows, N. (2024) · Clinical and Experimental Dermatology · doi:10.1093/ced/llae201 · Cited by 8 · see citing works

Les syndromes d’Ehlers-Danlos

Germain, D. P. (2017) · Annales de Dermatologie et de Vénéréologie · doi:10.1016/j.annder.2017.06.017 · Cited by 8 · see citing works

Spontaneous uterine rupture revealing vascular Ehlers-Danlos syndrome

Slaoui, A., Mahtate, M., Lazhar, H., Lakhdar, A., Baydada, A., & Kharbach, A. (2022) · International Journal of Surgery Case Reports · doi:10.1016/j.ijscr.2022.106840 · Cited by 8 · see citing works

The Molecular Basis of Genetic Collagen Disorders and Its Clinical Relevance

Chen, A. F., Fertala, A., Abboud, J. A., Wang, M. L., Rivlin, M. R., & Beredjiklian, P. K. (2018) · Journal of Bone and Joint Surgery · doi:10.2106/jbjs.17.01136 · Cited by 8 · see citing works

EHLERS–DANLOS SYNDROMES

Tinkle, B. T. (2020) · doi:10.1002/9781119432692.ch25 · Cited by 8 · see citing works

The Role of Cutaneous Manifestations in the Diagnosis of the Ehlers-Danlos Syndromes

Stembridge, N. S., Doolan, B. J., Lavallee, M. E., Haußer, I., Pope, F. M., Seneviratne, S. L., Winship, I., & Burrows, N. (2022) · Skin Health and Disease · doi:10.1002/ski2.140 · Cited by 6 · see citing works

Genomic Analysis of 727 Patients with Ehlers-Danlos Syndrome I: Clinical Perspective Relates 23 Genes to a Maternally Influenced Arthritis-Adrenaline Disorder

Wilson, G. N. (2019) · Journal of Biosciences and Medicines · doi:10.4236/jbm.2019.712015 · Cited by 7 · see citing works

Glycine substitution mutation of COL5A1 in classic Ehlers–Danlos syndrome: a case report and literature review

Gong, Z., Wang, H., & Lin, Z. (2021) · Clinical and Experimental Dermatology · doi:10.1111/ced.14568 · Cited by 6 · see citing works

Microneedling on the external female genitalia's flaccidity in patients with Ehlers‐Danlos: Case report

Gomes, T., Baqueiro, P., Oliveira, C. P. D. F., Alves, R., & Lordêlo, P. (2019) · Journal of Cosmetic Dermatology · doi:10.1111/jocd.12867 · Cited by 6 · see citing works

Gonosomal Mosaicism for a Novel COL5A1 Pathogenic Variant in Classic Ehlers-Danlos Syndrome

Micale, L., Foiadelli, T., Russo, F., Cinque, L., Bassanese, F., Granatiero, M., Fusco, C., Savasta, S., & Castori, M. (2021) · Genes · doi:10.3390/genes12121928 · Cited by 6 · see citing works

Structure, Mechanics, and Mechanobiology of Fibrocartilage Pericellular Matrix Mediated by Type V Collagen

Wang, C., Fan, M., Heo, S., Adams, S. M., Li, T., Liu, Y., Li, Q., Loebel, C., Burdick, J. A., Lu, X. L., et al. (2025) · Advanced Science · doi:10.1002/advs.202414750 · Cited by 6 · see citing works

Neurobiological and neuropsychological disturbance in EDS

Westerman, M., Kafkas, A., Parry‐Jones, A., Strong, S., Retzler, C., & Hallam, G. (2025) · Frontiers in Neurology · doi:10.3389/fneur.2025.1648702 · Cited by 5 · see citing works

Therapeutic difficulties in a patient with Ehlers-Danlos syndrome and numerous symptomatic premature ventricular contractions—case report and literature review

Sławiński, G., Wabich, E., Hawryszko, M., Daniłowicz‐Szymanowicz, L., & Chevalier, P. (2023) · Frontiers in Cardiovascular Medicine · doi:10.3389/fcvm.2023.1171541 · Cited by 5 · see citing works

Genetic diagnosis of the Ehlers-Danlos syndromes

Zschocke, J., Demirdas, S., & van Dijk, F. S. (2024) · Medizinische Genetik · doi:10.1515/medgen-2024-2061 · Cited by 6 · see citing works

Low vitamin C status and hypermobility‐related disorders in patients with bleeding disorder of unknown cause

Leinoe, E. B., Fridriksdottir, H., Rasmussen, A. Ø., Funding, E., Sørensen, A. L. T., Kampmann, P., Lykkesfeldt, J., & Rossing, M. (2024) · Haemophilia · doi:10.1111/hae.15099 · Cited by 5 · see citing works

A case of Ehlers–Danlos syndrome presenting with widened atrophic scars of forehead, elbow, knee, and pretibial area

Xu, X., Wang, Z., & Zan, T. (2019) · Medicine · doi:10.1097/md.0000000000017138 · Cited by 5 · see citing works

FKBP14 kyphoscoliotic Ehlers-Danlos Syndrome in adolescent patient: the first Colombian report

Ruiz-Botero, F., Ramírez‐Montaño, D., & Pachajoa, H. (2019) · Archivos Argentinos de Pediatria · doi:10.5546/aap.2019.eng.e274 · Cited by 5 · see citing works

Collagen remodelling and plasma ascorbic acid levels in patients suspected of inherited bleeding disorders harbouring germline variants in collagen‐related genes

Ferrari, M. F., Zetterberg, E., Rossing, M., Manon‐Jensen, T., Pehrsson, M., Karsdal, M. A., Lykkesfeldt, J., & Leinoe, E. B. (2020) · Haemophilia · doi:10.1111/hae.14195 · Cited by 5 · see citing works

Collagens in the Physiopathology of the Ehlers–Danlos Syndromes

Malfait, F., Vroman, R., Colman, M., & Syx, D. (2021) · Biology of extracellular matrix · doi:10.1007/978-3-030-67592-9_3 · Cited by 4 · see citing works

Ehlers‐Danlos Syndromes

Tinkle, B. T., & Atzinger, C. (2010) · doi:10.1002/9780470893159.ch24 · Cited by 5 · see citing works

Iliac artery dissection and rupture in a patient with classic Ehlers-Danlos syndrome due to COL5A1 null variant

Pujari, A., & Shalhub, S. (2024) · Journal of Vascular Surgery Cases and Innovative Techniques · doi:10.1016/j.jvscit.2024.101443 · Cited by 4 · see citing works

Identification of the novel COL5A1 c.3369_3431dup, p.(Glu1124_Gly1144dup) variant in a patient with incomplete classical Ehlers–Danlos syndrome: The importance of phenotype‐guided genetic testing

Ritelli, M., Cinquina, V., Venturini, M., & Colombi, M. (2020) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.1422 · Cited by 4 · see citing works

“Molluscum” Conditions in Dermatology

Gaurav, V., & Grover, C. (2021) · Indian Dermatology Online Journal · doi:10.4103/idoj.idoj_928_20 · Cited by 4 · see citing works

An exemplary model of genetic counselling for highly specialised services

Harris, J. M., Bartlett, M., Baker, D., Berlin, C., Bowen, J. M., Cummings, C., Fallows, C., Green, C., Griffin, J., Julier, K., et al. (2023) · Journal of Community Genetics · doi:10.1007/s12687-023-00640-4 · Cited by 4 · see citing works

Integrative medicine for hypermobility spectrum disorders (HSD) and Ehlers-Danlos syndromes (EDS): a feasibility study

Guedry, S. E., Langley, B. O., Schaefer, K., & Hanes, D. A. (2024) · Disability and Rehabilitation · doi:10.1080/09638288.2024.2314713 · Cited by 3 · see citing works

The Natural History of Dermatosparaxis Ehlers Danlos Syndrome: An Adult Case Series

Angwin, C., Byers, P. H., Dulfer, E., Ghali, N., Harris, J. M., Haußer, I., McElroy, A. W., Sobey, G. J., & van Dijk, F. S. (2024) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.63957 · Cited by 4 · see citing works

Absence of lingual frenulum in children with Ehlers-Danlos Syndrome: a retrospective study of forty cases and literature review of a twenty years long debate

Savasta, S., Bassanese, F., Hruby, C., Foiadelli, T., Siri, B., Viviana, G. O. R. I., Votto, M., Tinelli, C., & Marseglia, G. L. (2021) · Minerva Pediatrics · doi:10.23736/s2724-5276.19.05530-0 · Cited by 4 · see citing works

Ehlers-Danlos Syndrome: A Multidisciplinary Approach

Jacobs, J. W. G., Cornelissens, L. J. M., Veenhuizen, M. C., & Hamel, B. C. J. (2018) · IOS Press eBooks · doi:10.3233/978-1-61499-878-5-i · Cited by 4 · see citing works

Clinical variability in children with dolichoarteriopathies of the internal carotid artery

Foiadelli, T., Ippolito, R., Corbetta, R., Simoncelli, A. M., Amariti, R., Licari, A., Marseglia, G. L., & Savasta, S. (2019) · Child s Nervous System · doi:10.1007/s00381-019-04395-7 · Cited by 4 · see citing works

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Calò, C. M., Massidda, M., Sorge, R. P., Tiloca, A., & Monteleone, G. (2024) · Revista Brasileira de Ortopedia · doi:10.1055/s-0043-1771531 · Cited by 3 · see citing works

Let Time Teach You: A Case Report of a Double Diagnosis of 17P Duplication and Ehlers-Danlos Syndrome

Castronovo, P., Aleo, S., Seresini, A., Grilli, F., Brunati, E., Marchisio, P., Guez, S., & Milani, D. (2022) · Genes · doi:10.3390/genes13122197 · Cited by 2 · see citing works

Multisystem Involvement in a Pediatric Patient With Hypermobile Ehlers-Danlos Syndrome: A Case Report of the Diagnostic Complexity and Management Challenges

Cosare, M. J., Korkmaz, A. G., Valencia, V., Toledo, L. M., & Butala, M. (2024) · Cureus · doi:10.7759/cureus.62083 · Cited by 2 · see citing works

New principles of diagnosis and classification of the Ehlers-Danlos syndrome

Arsentev, V. G., Kadurina, T. I., & Николаевна, А. Л. (2018) · Pediatrician (St Petersburg) · doi:10.17816/ped91118-125 · Cited by 9 · see citing works

The 2017 international classification of the Ehlers–Danlos syndromes

Malfait, F., Francomano, C., Byers, P., Belmont, J., Berglund, B., Black, J., Bloom, L., Bowen, J. M., Brady, A. F., Burrows, N. P., et al. (2017) · American Journal of Medical Genetics Part C: Seminars in Medical Genetics · doi:10.1002/ajmg.c.31552 · Cited by 1,936 · see citing works

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 249 · see citing works

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 · see citing works

Ehlers Danlos Syndrome

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