Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK).
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Recommendations for anesthesia and perioperative management in patients with Ehlers-Danlos syndrome(s)Ehlers-Danlos syndrome type IVHuman Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase geneEhlers-danlos syndrome, hypermobility type: an underdiagnosed hereditary connective tissue disorder with mucocutaneous, articular, and systemic manifestationsThe zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-beta signaling pathwaysClassical Ehlers-Danlos syndrome caused by a mutation in type I collagen.COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDSOrder of intron removal influences multiple splice outcomes, including a two-exon skip, in a COL5A1 acceptor-site mutation that results in abnormal pro-alpha1(V) N-propeptides and Ehlers-Danlos syndrome type IAnalysis of obstetric complications and uterine connective tissue in tenascin-X-deficient humans and miceChronic pain in hypermobility syndrome and Ehlers-Danlos syndrome (hypermobility type): it is a challengeBisphosphonate therapy in pediatric patientsEducational paper. Connective tissue disorders with vascular involvement: from gene to therapyDecellularized matrices for cardiovascular tissue engineeringRole of integrins in the periodontal ligament: organizers and facilitatorsLysyl Oxidase Activity Is Required for Ordered Collagen Fibrillogenesis by Tendon CellsGenetics of inherited cardiocutaneous syndromes: a reviewEhlers-Danlos Syndrome-Hypermobility Type: A Much Neglected Multisystemic DisorderGenetic Risk Factors for Ischemic and Hemorrhagic StrokeWhen flexibility is not necessarily a virtue: a review of hypermobility syndromes and chronic or recurrent musculoskeletal pain in childrenNeurological manifestations of Ehlers-Danlos syndrome(s): A reviewDiagnostic Exome Sequencing Identifies a Novel Gene, EMILIN1, Associated with Autosomal-Dominant Hereditary Connective Tissue DiseaseHereditary equine regional dermal asthenia ("hyperelastosis cutis") in 50 horses: clinical, histological, immunohistological and ultrastructural findingsConditions presenting with symptoms of peripheral arterial diseaseHigh prevalence of eosinophilic esophagitis in patients with inherited connective tissue disorders.Systematic data-querying of large pediatric biorepository identifies novel Ehlers-Danlos Syndrome variantCase Report: Ehlers-Danlos Syndrome in an adolescent presenting with Chronic Daily Headache.Ehlers-danlos syndrome-hypermobility type and hemorrhoidsCritical involvement of ZEB2 in collagen fibrillogenesis: the molecular similarity between Mowat-Wilson syndrome and Ehlers-Danlos syndromeContribution of Family History in Co-occurring Down Syndrome and Ehlers-Danlos SyndromeThe molecular genetics of the Ehlers-Danlos syndrome.Ehlers-Danlos arthrochalasia type (VIIA-B)--expanding the phenotype: from prenatal life through adulthood.Gait pattern in 9-11-year-old children with generalized joint hypermobility compared with controls; a cross-sectional study.Ehlers-Danlos syndrome associated with cleft lip and palate.Spontaneous colon perforations associated with a vascular type of ehlers-danlos syndrome.The Genetics of Aortopathies in Clinical Cardiology.A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders.Ehlers-Danlos Syndrome, Hypermobility Type: Impact of Somatosensory Orthoses on Postural Control (A Pilot Study)Incidence of joint hypermobility syndrome in a military population: impact of gender and raceEhlers-Danlos syndrome with severe early-onset periodontal disease (EDS-VIII) is a distinct, heterogeneous disorder with one predisposition gene at chromosome 12p13.Haploinsufficiency of TNXB is associated with hypermobility type of Ehlers-Danlos syndrome.
P2860
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P2860
Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK).
description
1998 nî lūn-bûn
@nan
1998 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
Ehlers-Danlos syndromes: revis ...... ers-Danlos Support Group (UK).
@ast
Ehlers-Danlos syndromes: revis ...... ers-Danlos Support Group (UK).
@en
Ehlers-Danlos syndromes: revis ...... ers-Danlos Support Group (UK).
@nl
type
label
Ehlers-Danlos syndromes: revis ...... ers-Danlos Support Group (UK).
@ast
Ehlers-Danlos syndromes: revis ...... ers-Danlos Support Group (UK).
@en
Ehlers-Danlos syndromes: revis ...... ers-Danlos Support Group (UK).
@nl
prefLabel
Ehlers-Danlos syndromes: revis ...... ers-Danlos Support Group (UK).
@ast
Ehlers-Danlos syndromes: revis ...... ers-Danlos Support Group (UK).
@en
Ehlers-Danlos syndromes: revis ...... ers-Danlos Support Group (UK).
@nl
P2093
P1476
Ehlers-Danlos syndromes: revis ...... ers-Danlos Support Group (UK).
@en
P2093
Beighton P
De Paepe A
Steinmann B
Tsipouras P
Wenstrup RJ
P356
10.1002/(SICI)1096-8628(19980428)77:1<31::AID-AJMG8>3.3.CO;2-P
P577
1998-04-01T00:00:00Z