Published in Clin Genet on March 15, 2012
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Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations. Orphanet J Rare Dis (2013) 0.89
Vascular Ehlers-Danlos syndrome mutations in type III collagen differently stall the triple helical folding. J Biol Chem (2013) 0.88
Targeted deletion of collagen V in tendons and ligaments results in a classic Ehlers-Danlos syndrome joint phenotype. Am J Pathol (2015) 0.87
Spontaneous Dissection of the Renal Artery in Vascular Ehlers-Danlos Syndrome. Case Rep Crit Care (2015) 0.87
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Human genetic disorders and knockout mice deficient in glycosaminoglycan. Biomed Res Int (2014) 0.85
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Tenascin-X: beyond the architectural function. Cell Adh Migr (2015) 0.83
Educational paper. Connective tissue disorders with vascular involvement: from gene to therapy. Eur J Pediatr (2012) 0.82
Ehlers-Danlos syndrome hypermobility type is associated with rheumatic diseases. Sci Rep (2017) 0.82
Neurological manifestations of Ehlers-Danlos syndrome(s): A review. Iran J Neurol (2014) 0.82
Ehlers-Danlos Syndrome-Hypermobility Type: A Much Neglected Multisystemic Disorder. Rambam Maimonides Med J (2016) 0.81
Mechanobiological dysregulation of the epidermis and dermis in skin disorders and in degeneration. J Cell Mol Med (2013) 0.81
Targeted next-generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndrome. Genet Med (2016) 0.79
Brain injury unmasking Ehlers-Danlos syndromes after trauma: the fiber print. Orphanet J Rare Dis (2016) 0.78
Pulse-chase analysis of procollagen biosynthesis by azidohomoalanine labeling. Connect Tissue Res (2014) 0.78
Vesicoureteral reflux and the extracellular matrix connection. Pediatr Nephrol (2016) 0.78
Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue. Hum Genet (2016) 0.78
Familial occurrence and heritable connective tissue disorders in cervical artery dissection. Neurology (2014) 0.78
Altered dermal fibroblast behavior in a collagen V haploinsufficient murine model of classic Ehlers-Danlos syndrome. Connect Tissue Res (2015) 0.77
Kyphoscoliotic type of Ehlers-Danlos Syndrome (EDS VIA) in six Egyptian patients presenting with a homogeneous clinical phenotype. Eur J Pediatr (2014) 0.77
Cardiac valve disease: an unreported feature in Ehlers Danlos syndrome arthrocalasia type? Ital J Pediatr (2012) 0.77
Mutations in Biosynthetic Enzymes for the Protein Linker Region of Chondroitin/Dermatan/Heparan Sulfate Cause Skeletal and Skin Dysplasias. Biomed Res Int (2015) 0.77
Small fiber neuropathy is a common feature of Ehlers-Danlos syndromes. Neurology (2016) 0.77
The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations. Am J Med Genet A (2015) 0.76
Ehlers-Danlos Syndrome Caused by Biallelic TNXB Variants in Patients with Congenital Adrenal Hyperplasia. Hum Mutat (2016) 0.75
Transdermal Delivery of Functional Collagen Via Polyvinylpyrrolidone Microneedles. Ann Biomed Eng (2015) 0.75
Next-generation sequencing and a novel COL3A1 mutation associated with vascular Ehlers-Danlos syndrome with severe intestinal involvement: a case report. J Med Case Rep (2016) 0.75
Vascular type Ehlers-Danlos syndrome is associated with platelet dysfunction and low vitamin D serum concentration. Orphanet J Rare Dis (2016) 0.75
Ehlers-Danlos syndrome versus cleidocranial dysplasia. Ital J Pediatr (2014) 0.75
Ehlers-Danlos Syndrome Type VIII: A Rare Cause of Leg Ulcers in Young Patients. Case Rep Dermatol Med (2013) 0.75
Homozygosity and Heterozygosity for Null Col5a2 Alleles Produce Embryonic Lethality and a Novel Classic Ehlers-Danlos Syndrome-Related Phenotype. Am J Pathol (2015) 0.75
A Review of the Genetics of Intracranial Berry Aneurysms and Implications for Genetic Counseling. J Genet Couns (2016) 0.75
New Insights Into Aortic Diseases: A Report From the Third International Meeting on Aortic Diseases (IMAD3). Aorta (Stamford) (2013) 0.75
Orthostatic Intolerance and Postural Orthostatic Tachycardia Syndrome in Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome, Hypermobility Type: Neurovegetative Dysregulation or Autonomic Failure? Biomed Res Int (2017) 0.75
When flexibility is not necessarily a virtue: a review of hypermobility syndromes and chronic or recurrent musculoskeletal pain in children. Pediatr Rheumatol Online J (2015) 0.75
Finger joint laxity, number of previous pregnancies and pregnancy induced back pain in a cohort study. BMC Pregnancy Childbirth (2014) 0.75
Chronic pain in hypermobility syndrome and Ehlers-Danlos syndrome (hypermobility type): it is a challenge. J Pain Res (2015) 0.75
Facelift for an Ehlers-Danlos Syndrome Patient: A Case Report. Aesthet Surg J (2016) 0.75
Skin malformations in a neonatal foal tested homozygous positive for Warmblood Fragile Foal Syndrome. BMC Vet Res (2015) 0.75
Mutation in TNXB gene causes moderate to severe Ehlers-Danlos syndrome. World J Med Genet (2016) 0.75
Complex Scapular Winging following Total Shoulder Arthroplasty in a Patient with Ehlers-Danlos Syndrome. Case Rep Orthop (2015) 0.75
Bullous emphysema as first presentation of Ehlers-Danlos syndrome in monozygotic twins. Respir Med Case Rep (2014) 0.75
Systematic data-querying of large pediatric biorepository identifies novel Ehlers-Danlos Syndrome variant. BMC Musculoskelet Disord (2016) 0.75
The health and life path of rare disease patients: results of the 2015 French barometer. Patient Relat Outcome Meas (2017) 0.75
Bone involvement in adult patients affected with Ehlers-Danlos syndrome. Osteoporos Int (2016) 0.75
Intestinal pseudo-obstruction due to small bowel α-actin deficiency in a child with Ehlers-Danlos syndrome. Tech Coloproctol (2013) 0.75
Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation. J Med Genet (2008) 1.45
Total absence of the alpha2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems. J Med Genet (2006) 1.12
The alphaE-catenin gene (CTNNA1) acts as an invasion-suppressor gene in human colon cancer cells. Oncogene (1999) 1.09
Superior mesenteric artery aneurysm in a 9-year-old boy with classical Ehlers-Danlos syndrome. Am J Med Genet A (2012) 0.84
Ehlers-Danlos arthrochalasia type (VIIA-B)--expanding the phenotype: from prenatal life through adulthood. Clin Genet (2011) 0.83
Unusual oral findings in dermatosparaxis (Ehlers-Danlos syndrome type VIIC). J Oral Pathol Med (2003) 0.83
Decreased expression of lysyl hydroxylase 2 (LH2) in skin fibroblasts from three Ehlers-Danlos patients does not result from mutations in either the coding or proximal promoter region of the LH2 gene. Mol Genet Metab (2004) 0.79
Met>Val substitution in a highly conserved region of the pro-alpha1(I) collagen C-propeptide domain causes alternative splicing and a mild EDS/OI phenotype. J Med Genet (2004) 0.78
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