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
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Recommendations for anesthesia and perioperative management in patients with Ehlers-Danlos syndrome(s)Ehlers-danlos syndrome, hypermobility type: an underdiagnosed hereditary connective tissue disorder with mucocutaneous, articular, and systemic manifestationsMutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationshipsCandidate cell and matrix interaction domains on the collagen fibril, the predominant protein of vertebratesThe genetic basis of aortic aneurysmGenotype-phenotype correlations in autosomal dominant osteogenesis imperfectaNovel X-linked glomerulopathy is associated with a COL4A5 missense mutation in a non-collagenous interruptionLessons on the pathogenesis of aneurysm from heritable conditionsClinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutationsHelical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome.Ehlers Danlos Syndrome: An Unusual Presentation You Need to Know about.Osteogenesis imperfecta: recent findings shed new light on this once well-understood condition.Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type.New perspectives on osteogenesis imperfectaThe Ehlers-Danlos syndrome, a disorder with many faces.Development and pathologies of the arterial wall.Caffey disease: new perspectives on old questions.Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders.The Ehlers-Danlos syndromes, rare types.Ehlers-Danlos syndrome, classical type.Targeted next-generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndrome.Aetiology and management of hereditary aortopathy.Genes in Thoracic Aortic Aneurysms and Dissections - Do they Matter?: Translation and Integration of Research and Modern Genetic Techniques into Daily Clinical Practice.Genes in thoracic aortic aneurysms/dissections - do they matter?Common iliac artery aneurysm and spontaneous dissection with contralateral iatrogenic common iliac artery dissection in classic ehlers-danlos syndrome.Identification of binding partners interacting with the α1-N-propeptide of type V collagen.Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome: a systematic review.Tissue-specific mosaicism for a lethal osteogenesis imperfecta COL1A1 mutation causes mild OI/EDS overlap syndrome.Familial Ehlers-Danlos syndrome with lethal arterial events caused by a mutation in COL5A1.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.
P2860
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P2860
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
description
2007 nî lūn-bûn
@nan
2007 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2007年の論文
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2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
Three arginine to cysteine sub ...... ial rupture in early adulthood
@ast
Three arginine to cysteine sub ...... ial rupture in early adulthood
@en
Three arginine to cysteine sub ...... ial rupture in early adulthood
@en-gb
Three arginine to cysteine sub ...... ial rupture in early adulthood
@nl
type
label
Three arginine to cysteine sub ...... ial rupture in early adulthood
@ast
Three arginine to cysteine sub ...... ial rupture in early adulthood
@en
Three arginine to cysteine sub ...... ial rupture in early adulthood
@en-gb
Three arginine to cysteine sub ...... ial rupture in early adulthood
@nl
prefLabel
Three arginine to cysteine sub ...... ial rupture in early adulthood
@ast
Three arginine to cysteine sub ...... ial rupture in early adulthood
@en
Three arginine to cysteine sub ...... ial rupture in early adulthood
@en-gb
Three arginine to cysteine sub ...... ial rupture in early adulthood
@nl
P2093
P2860
P50
P921
P356
P1433
P1476
Three arginine to cysteine sub ...... ial rupture in early adulthood
@en
P2093
Charles M Lapière
Paul Coucke
Sofie Symoens
Trinh Hermanns-Lê
P2860
P304
P356
10.1002/HUMU.20455
P407
P577
2007-04-01T00:00:00Z