Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type.
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Genetics of valvular heart diseaseWhen flexibility is not necessarily a virtue: a review of hypermobility syndromes and chronic or recurrent musculoskeletal pain in childrenCollagen XIV is important for growth and structural integrity of the myocardiumHormonal modulation of connective tissue homeostasis and sex differences in risk for osteoarthritis of the kneeCase Report: Ehlers-Danlos Syndrome in an adolescent presenting with Chronic Daily Headache.Population-based meta-analysis in Caucasians confirms association with COL5A1 and ZNF469 but not COL8A2 with central corneal thickness.Functional adaptation of tendon and skeletal muscle to resistance training in three patients with genetically verified classic Ehlers Danlos Syndrome.Analysis of a gene co-expression network establishes robust association between Col5a2 and ischemic heart disease.Targeted deletion of collagen V in tendons and ligaments results in a classic Ehlers-Danlos syndrome joint phenotype.Collagen V is a dominant regulator of collagen fibrillogenesis: dysfunctional regulation of structure and function in a corneal-stroma-specific Col5a1-null mouse model.ECM roles in the function of metabolic tissues.The COL5A1 genotype is associated with range of motion.Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutationStructure-mechanics relationships of collagen fibrils in the osteogenesis imperfecta mouse model.Ehlers-danlos syndrome in orthopaedics: etiology, diagnosis, and treatment implications.Clinical utility gene card for: Ehlers-Danlos syndrome types I-VII and variants - update 2012Connective tissue spectrum abnormalities associated with spontaneous cerebrospinal fluid leaks: a prospective study.Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutationsAltered dermal fibroblast behavior in a collagen V haploinsufficient murine model of classic Ehlers-Danlos syndrome.A novel missense mutation of COL5A2 in a patient with Ehlers-Danlos syndrome.Anesthetic Management of a Patient With Ehlers-Danlos Syndrome.Non-operative management of diverticular perforation in a patient with suspected Ehlers-Danlos syndrome.Vesicoureteral reflux and the extracellular matrix connection.The extracellular matrix of the dermis: flexible structures with dynamic functions.The Ehlers-Danlos syndrome, a disorder with many faces.Joint hypermobility and headache: understanding the glue that binds the two together--part 1.Genetic Factors in Tendon Injury: A Systematic Review of the Literature.Type V Collagen in Health, Disease, and Fibrosis.Ehlers-Danlos syndrome, classical type.At the Heart of the Pregnancy: What Prenatal and Cardiovascular Genetic Counselors Need to Know about Maternal Heart Disease.Genetic factors influencing the reduction of central corneal thickness in disorders affecting the eye.Systemic Multiple Aneurysms Caused by Vascular Ehlers-Danlos Syndrome.Proprioceptive precision is impaired in Ehlers-Danlos syndrome.Clinical problems in patient with Ehlers-Danlos syndrome and Multiple Chemical Sensitivity undergoing total thyroidectomy.Tendon protein synthesis rate in classic Ehlers-Danlos patients can be stimulated with insulin-like growth factor-I.Using high-resolution variant frequencies to empower clinical genome interpretation.Long-term prognosis of patients with Ehlers-Danlos syndrome and epilepsy.Proprioceptive sensitivity in Ehlers-Danlos syndrome patients.How aging impacts skin biomechanics: a multiscale study in mice.Successful case of breast conservation radiotherapy in a patient with type III Ehlers-Danlos syndrome.
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Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on October 2010
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type.
@en
Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type.
@nl
type
label
Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type.
@en
Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type.
@nl
prefLabel
Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type.
@en
Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type.
@nl
P2860
P1433
P1476
Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type.
@en
P2093
Richard J Wenstrup
P2860
P2888
P304
P356
10.1097/GIM.0B013E3181EED412
P407
P577
2010-10-01T00:00:00Z
P6179
1009100133