| scholarly article | Q13442814 |
| P356 | DOI | 10.1038/S41572-020-0194-9 |
| P698 | PubMed publication ID | 32732924 |
| P50 | author | Clair A. Francomano | Q84512707 |
| P2093 | author name string | Cecilia Giunta | |
| Marco Castori | |||
| Peter H Byers | |||
| Fransiska Malfait | |||
| Tomoki Kosho | |||
| P2860 | cites work | A family with Classical Ehlers-Danlos Syndrome (cEDS), mild bone fragility and without vascular complications, caused by the p.Arg312Cys mutation in COL1A1 | Q92023500 |
| Cardiac valvular Ehlers-Danlos syndrome is a well-defined condition due to recessive null variants in COL1A2 | Q92031275 | ||
| Utilization of echocardiography in Ehlers-Danlos syndrome | Q92062405 | ||
| Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers-Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility | Q92150156 | ||
| A multi-institutional experience in vascular Ehlers-Danlos syndrome diagnosis | Q92230555 | ||
| Cellular and Molecular Mechanisms in the Pathogenesis of Classical, Vascular, and Hypermobile Ehlers‒Danlos Syndromes | Q92597178 | ||
| Natural History and Surgical Management of Colonic Perforations in Vascular Ehlers-Danlos Syndrome: A Retrospective Review | Q92679875 | ||
| Prescription pattern & adverse drug reactions of prokinetics | Q93184138 | ||
| Vascular Ehlers-Danlos Syndrome: Long-Term Observational Study | Q93184454 | ||
| Frequency of de novo variants and parental mosaicism in vascular Ehlers-Danlos syndrome | Q93361008 | ||
| Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene | Q22010416 | ||
| Molecular basis for the progeroid variant of Ehlers-Danlos syndrome. Identification and characterization of two mutations in galactosyltransferase I gene | Q22010593 | ||
| The pro-alpha3(V) collagen chain. Complete primary structure, expression domains in adult and developing tissues, and comparison to the structures and expression domains of the other types V and XI procollagen chains | Q22253347 | ||
| Procollagen II amino propeptide processing by ADAMTS-3. Insights on dermatosparaxis | Q24291329 | ||
| Tenascin-X, collagen, elastin, and the Ehlers-Danlos syndrome | Q24294425 | ||
| Human fibroblasts with mutations in COL5A1 and COL3A1 genes do not organize collagens and fibronectin in the extracellular matrix, down-regulate alpha2beta1 integrin, and recruit alphavbeta3 Instead of alpha5beta1 integrin | Q24309491 | ||
| PCOLCE2 encodes a functional procollagen C-proteinase enhancer (PCPE2) that is a collagen-binding protein differing in distribution of expression and post-translational modification from the previously described PCPE1 | Q24312869 | ||
| Defective glycosylation of decorin and biglycan, altered collagen structure, and abnormal phenotype of the skin fibroblasts of an Ehlers-Danlos syndrome patient carrying the novel Arg270Cys substitution in galactosyltransferase I (beta4GalT-7) | Q24313364 | ||
| Rescue of migratory defects of Ehlers-Danlos syndrome fibroblasts in vitro by type V collagen but not insulin-like binding protein-1 | Q24318548 | ||
| Mutations in the COL3A1 gene result in the Ehlers-Danlos syndrome type IV and alterations in the size and distribution of the major collagen fibrils of the dermis | Q24320166 | ||
| Reduced type I collagen utilization: a pathogenic mechanism in COL5A1 haplo-insufficient Ehlers-Danlos syndrome | Q24337270 | ||
| 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 | Q24338930 | ||
| Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen | Q24539139 | ||
| COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS | Q24540243 | ||
| Impaired abdominal wall development and deficient wound healing in mice lacking aortic carboxypeptidase-like protein | Q24550890 | ||
| A genetic defect in the biosynthesis of dermatan sulfate proteoglycan: galactosyltransferase I deficiency in fibroblasts from a patient with a progeroid syndrome | Q24559196 | ||
| Human alpha 1(III) and alpha 2(V) procollagen genes are located on the long arm of chromosome 2 | Q24567772 | ||
| Aortic carboxypeptidase-like protein (ACLP) enhances lung myofibroblast differentiation through transforming growth factor β receptor-dependent and -independent pathways | Q24611248 | ||
| Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance | Q24616072 | ||
| Doxycycline ameliorates the susceptibility to aortic lesions in a mouse model for the vascular type of Ehlers-Danlos syndrome | Q24631384 | ||
| Collagen fibrillogenesis: fibronectin, integrins, and minor collagens as organizers and nucleators | Q24645430 | ||
| Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome | Q24656245 | ||
| Tenascin-X: a candidate gene for benign joint hypermobility syndrome and hypermobility type Ehlers-Danlos syndrome? | Q24673343 | ||
| Structure of human peptidyl-prolylcis-transisomerase FKBP22 containing two EF-hand motifs | Q27680678 | ||
| Cloning and characterization of ADAMTS-14, a novel ADAMTS displaying high homology with ADAMTS-2 and ADAMTS-3 | Q28210583 | ||
| Heterogeneity of the Ehlers-Danlos syndrome: description of three clinical types and a hypothesis to explain the basic defect(s) | Q28258482 | ||
| Aneurysm syndromes caused by mutations in the TGF-beta receptor | Q28259654 | ||
| Domains and maturation processes that regulate the activity of ADAMTS-2, a metalloproteinase cleaving the aminopropeptide of fibrillar procollagens types I-III and V | Q28263804 | ||
| Type V collagen controls the initiation of collagen fibril assembly | Q28507945 | ||
| Murine model of the Ehlers-Danlos syndrome. col5a1 haploinsufficiency disrupts collagen fibril assembly at multiple stages | Q28508805 | ||
| Regulation of procollagen amino-propeptide processing during mouse embryogenesis by specialization of homologous ADAMTS proteases: insights on collagen biosynthesis and dermatosparaxis | Q28509801 | ||
| Type III collagen is crucial for collagen I fibrillogenesis and for normal cardiovascular development | Q28588213 | ||
| Development of a functional skin matrix requires deposition of collagen V heterotrimers | Q28593642 | ||
| Collagen fibril formation | Q28610094 | ||
| The CUB domain. A widespread module in developmentally regulated proteins | Q30195030 | ||
| Fetal membrane collagens: identification of two new collagen alpha chains | Q30586403 | ||
| Vascular Ehlers-Danlos syndrome: imaging findings | Q31122457 | ||
| Type V collagen: heterotypic type I/V collagen interactions in the regulation of fibril assembly | Q31440663 | ||
| The tumor suppressor PRDM5 regulates Wnt signaling at early stages of zebrafish development | Q33402914 | ||
| Articular mobility in an African population | Q33568661 | ||
| Ehlers-Danlos syndrome with severe early-onset periodontal disease (EDS-VIII) is a distinct, heterogeneous disorder with one predisposition gene at chromosome 12p13. | Q33905913 | ||
| Haploinsufficiency of TNXB is associated with hypermobility type of Ehlers-Danlos syndrome | Q33905928 | ||
| 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. | Q33909884 | ||
| Genetic heterogeneity and clinical variability in musculocontractural Ehlers-Danlos syndrome caused by impaired dermatan sulfate biosynthesis | Q38363816 | ||
| Insights in the etiopathology of galactosyltransferase II (GalT-II) deficiency from transcriptome-wide expression profiling of skin fibroblasts of two sisters with compound heterozygosity for two novel B3GALT6 mutations. | Q38470441 | ||
| A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history. | Q38724588 | ||
| The 2017 international classification of the Ehlers-Danlos syndromes | Q38743623 | ||
| The Ehlers-Danlos syndromes, rare types | Q38743626 | ||
| Ehlers-Danlos syndrome, classical type | Q38758151 | ||
| Gastrointestinal involvement in the Ehlers-Danlos syndromes. | Q38758936 | ||
| Disability in Adolescents and Adults Diagnosed With Hypermobility-Related Disorders: A Meta-Analysis. | Q38774854 | ||
| Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts | Q38930527 | ||
| Pharmacological and biological therapeutic strategies for osteogenesis imperfecta. | Q38998578 | ||
| Hypermobile Ehlers-Danlos syndrome (a.k.a. Ehlers-Danlos syndrome Type III and Ehlers-Danlos syndrome hypermobility type): Clinical description and natural history | Q39113194 | ||
| Pain management in the Ehlers-Danlos syndromes | Q39130079 | ||
| Orthopaedic management of the Ehlers-Danlos syndromes | Q39159822 | ||
| Measurement properties of clinical assessment methods for classifying generalized joint hypermobility-A systematic review. | Q39183822 | ||
| Procollagen C-proteinase enhancer stimulates procollagen processing by binding to the C-propeptide region only | Q39469580 | ||
| COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome | Q39923473 | ||
| Comprehensive population screening in the Ashkenazi Jewish population for recurrent disease-causing variants | Q40651803 | ||
| Therapeutics Targeting Drivers of Thoracic Aortic Aneurysms and Acute Aortic Dissections: Insights from Predisposing Genes and Mouse Models | Q40952704 | ||
| Type III collagen can be present on banded collagen fibrils regardless of fibril diameter | Q41536748 | ||
| Is there any link between joint hypermobility and mitral valve prolapse in patients with fibromyalgia syndrome? | Q41542245 | ||
| Structural abnormalities in the dermal collagen and elastic matrix from the skin of patients with inherited connective tissue disorders | Q41601884 | ||
| A substrate preference for the rough endoplasmic reticulum resident protein FKBP22 during collagen biosynthesis | Q41964279 | ||
| The clinical features of homozygous alpha 2(I) collagen deficient osteogenesis imperfecta. | Q42141526 | ||
| Two type XII-like collagens localize to the surface of banded collagen fibrils | Q43107890 | ||
| Tenascin-X deficiency is associated with Ehlers-Danlos syndrome | Q43500561 | ||
| Case report and study of collagen metabolism in Ehlers-Danlos syndrome type II. | Q44781425 | ||
| Clinical and echocardiographic survey of the Ehlers-Danlos syndrome | Q45243541 | ||
| Structural and functional studies on C1r and C1s: new insights into the mechanisms involved in C1 activity and assembly | Q45345619 | ||
| Correction: The Zinc Transporter SLC39A13/ZIP13 Is Required for Connective Tissue Development; Its Involvement in BMP/TGF-β Signaling Pathways. | Q45767003 | ||
| Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV). | Q45853276 | ||
| Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy | Q46176595 | ||
| Mutation analysis of the PLOD1 gene: an efficient multistep approach to the molecular diagnosis of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA). | Q46568073 | ||
| The natural history of children with joint hypermobility syndrome and Ehlers-Danlos hypermobility type: a longitudinal cohort study | Q47564301 | ||
| Shoulder function, pain and health related quality of life in adults with joint hypermobility syndrome/Ehlers-Danlos syndrome-hypermobility type | Q47841210 | ||
| Quality of life prediction in children with joint hypermobility syndrome. | Q48051988 | ||
| The evidence-based rationale for physical therapy treatment of children, adolescents, and adults diagnosed with joint hypermobility syndrome/hypermobile Ehlers Danlos syndrome. | Q48110493 | ||
| Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome | Q48110504 | ||
| Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome. | Q48217824 | ||
| Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type | Q48262638 | ||
| Contemporary approach to joint hypermobility and related disorders | Q48590853 | ||
| Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria | Q49160999 | ||
| Corneal abnormalities in Ehlers-Danlos syndrome type VI. | Q50786150 | ||
| Brittle cornea syndrome: an heritable connective tissue disorder distinct from Ehlers-Danlos syndrome type VI and fragilitas oculi, with spontaneous perforations of the eye, blue sclerae, red hair, and normal collagen lysyl hydroxylation. | Q50881352 | ||
| Ziploc-ing the structure 2.0: Endoplasmic reticulum-resident peptidyl prolyl isomerases show different activities toward hydroxyproline. | Q51068389 | ||
| Ehlers-Danlos features with progeroid facies and mild mental retardation. Further delineation of the syndrome. | Q52076960 | ||
| Structural change in decorin with skin aging | Q36659798 | ||
| Vascular Ehlers-Danlos Syndrome in siblings with biallelic COL3A1 sequence variants and marked clinical variability in the extended family | Q36695229 | ||
| The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome | Q36695702 | ||
| Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome--an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13 | Q36719066 | ||
| Lessons on the pathogenesis of aneurysm from heritable conditions | Q36756427 | ||
| Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations | Q36843308 | ||
| Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome | Q36870973 | ||
| Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders | Q36909257 | ||
| Disentangling mechanisms involved in collagen pyridinoline cross-linking: The immunophilin FKBP65 is critical for dimerization of lysyl hydroxylase 2 | Q37065130 | ||
| Aortic carboxypeptidase-like protein is expressed in fibrotic human lung and its absence protects against bleomycin-induced lung fibrosis. | Q37150761 | ||
| Desmopressin responsiveness in children with Ehlers-Danlos syndrome associated bleeding symptoms. | Q37335537 | ||
| Identification of the C1q-binding Sites of Human C1r and C1s: a refined three-dimensional model of the C1 complex of complement | Q37339284 | ||
| Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement | Q37396896 | ||
| ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components. | Q37587564 | ||
| Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice. | Q37685735 | ||
| Cross-sectional and longitudinal assessment of aortic root dilation and valvular anomalies in hypermobile and classic Ehlers-Danlos syndrome | Q37824760 | ||
| The SLC39 family of zinc transporters. | Q38090794 | ||
| Ehlers-Danlos syndrome: a showcase of conditions that lead to understanding matrix biology | Q38127000 | ||
| Pregnancy-related deaths and complications in women with vascular Ehlers-Danlos syndrome | Q38219704 | ||
| Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers-Danlos syndrome | Q38315284 | ||
| Structural biology of C1: dissection of a complex molecular machinery | Q33952066 | ||
| The metal transporter ZIP13 supplies iron into the secretory pathway in Drosophila melanogaster | Q34033332 | ||
| Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder | Q34036662 | ||
| Mutations in the lysyl hydroxylase 1 gene that result in enzyme deficiency and the clinical phenotype of Ehlers-Danlos syndrome type VI. | Q34043111 | ||
| Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome | Q34087616 | ||
| A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency | Q34098081 | ||
| Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV. | Q34113108 | ||
| Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome. | Q34119769 | ||
| Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers-Danlos syndrome: a prospective randomised, open, blinded-endpoints trial. | Q34136829 | ||
| Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene | Q34138089 | ||
| Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss | Q34248693 | ||
| Homozygosity for a null allele of COL3A1 results in recessive Ehlers-Danlos syndrome | Q34327290 | ||
| 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). | Q34390680 | ||
| Heart rate, conduction and ultrasound abnormalities in adults with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type. | Q34416341 | ||
| Defect in dermatan sulfate in urine of patients with Ehlers-Danlos syndrome caused by a CHST14/D4ST1 deficiency | Q34552118 | ||
| Functional digestive symptoms and quality of life in patients with Ehlers-Danlos syndromes: results of a national cohort study on 134 patients | Q35053540 | ||
| Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation | Q35102718 | ||
| Molecular diagnosis in vascular Ehlers-Danlos syndrome predicts pattern of arterial involvement and outcomes | Q35402977 | ||
| Self-reported quality of life, anxiety and depression in individuals with Ehlers-Danlos syndrome (EDS): a questionnaire study | Q35494465 | ||
| Tenascin-X: beyond the architectural function | Q35577940 | ||
| Collagens—structure, function, and biosynthesis | Q35586683 | ||
| Allele-specific siRNA knockdown as a personalized treatment strategy for vascular Ehlers-Danlos syndrome in human fibroblasts | Q35790300 | ||
| Procollagen trafficking, processing and fibrillogenesis. | Q36078993 | ||
| Transcriptome-Wide Expression Profiling in Skin Fibroblasts of Patients with Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type | Q36102753 | ||
| Ring-Mesh Model of Proteoglycan Glycosaminoglycan Chains in Tendon based on Three-dimensional Reconstruction by Focused Ion Beam Scanning Electron Microscopy. | Q36131912 | ||
| The spectrum, management and clinical outcome of Ehlers-Danlos syndrome type IV: a 30-year experience | Q36191917 | ||
| Collagen type I and type V are present in the same fibril in the avian corneal stroma | Q36218788 | ||
| Bruch's membrane abnormalities in PRDM5-related brittle cornea syndrome. | Q36273858 | ||
| Chronic treatment with a broad-spectrum metalloproteinase inhibitor, doxycycline, prevents the development of spontaneous aortic lesions in a mouse model of vascular Ehlers-Danlos syndrome. | Q36296835 | ||
| Molecular genetics in classic Ehlers-Danlos syndrome | Q36309851 | ||
| Large and small splice variants of collagen XII: differential expression and ligand binding. | Q36382678 | ||
| Promotion of vesicular zinc efflux by ZIP13 and its implications for spondylocheiro dysplastic Ehlers-Danlos syndrome. | Q36485369 | ||
| Tenascin-X haploinsufficiency associated with Ehlers-Danlos syndrome in patients with congenital adrenal hyperplasia | Q36589415 | ||
| Joint hypermobility and skin elasticity: the hereditary disorders of connective tissue | Q36657323 | ||
| Transforming growth factor-β and inflammation in vascular (type IV) Ehlers-Danlos syndrome | Q87050240 | ||
| Multidisciplinary treatment of disability in ehlers-danlos syndrome hypermobility type/hypermobility syndrome: A pilot study using a combination of physical and cognitive-behavioral therapy on 12 women | Q87196410 | ||
| Quality of life, unmet needs, and iatrogenic injuries in rehabilitation of patients with Ehlers-Danlos Syndrome hypermobility type/Joint Hypermobility Syndrome | Q87612360 | ||
| Classical Ehlers-Danlos syndrome with a propensity to arterial events: A new report on a French family with a COL1A1 p.(Arg312Cys) variant | Q90156426 | ||
| Structural alteration of glycosaminoglycan side chains and spatial disorganization of collagen networks in the skin of patients with mcEDS-CHST14 | Q90557387 | ||
| Targetable cellular signaling events mediate vascular pathology in vascular Ehlers-Danlos syndrome | Q90872762 | ||
| Genetics of congenital adrenal hyperplasia and genotype-phenotype correlation | Q90901993 | ||
| DSE associated musculocontractural EDS, a milder phenotype or phenotypic variability | Q90955838 | ||
| Bi-allelic AEBP1 mutations in two patients with Ehlers-Danlos syndrome | Q91160144 | ||
| Prevalence of Functional GI Diseases and Pelvic Floor Symptoms in Marfan Syndrome and Ehlers-Danlos Syndrome: A National Cohort Study | Q91177649 | ||
| C1R Mutations Trigger Constitutive Complement 1 Activation in Periodontal Ehlers-Danlos Syndrome | Q91367909 | ||
| Management of colonic complications of type IV Ehlers-Danlos syndrome: a systematic review and evidence-based management strategy | Q91506796 | ||
| Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers-Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix | Q91623205 | ||
| COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap | Q91634361 | ||
| Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities. | Q52089031 | ||
| A distinct variant of the Ehlers-Danlos syndrome | Q52106226 | ||
| Aortic carboxypeptidase-like protein, a WNT ligand, exacerbates nonalcoholic steatohepatitis. | Q52350739 | ||
| Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome. | Q52615325 | ||
| Novel Nonsense Mutation in SLC39A13 Initially Presenting as Myopathy: Case Report and Review of the Literature. | Q52624722 | ||
| Spontaneous ruptured dissection of the right common iliac artery in a patient with classic Ehlers-Danlos syndrome phenotype. | Q53030288 | ||
| Type III collagen affects dermal and vascular collagen fibrillogenesis and tissue integrity in a mutant Col3a1 transgenic mouse model. | Q53078461 | ||
| Further delineation of FKBP14-related Ehlers-Danlos syndrome: A patient with early vascular complications and non-progressive kyphoscoliosis, and literature review. | Q53106453 | ||
| Re-writing the natural history of pain and related symptoms in the joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type. | Q53864616 | ||
| Y-position cysteine substitution in type I collagen (alpha1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers-Danlos syndrome phenotype. | Q53967424 | ||
| The lack of clinical distinction between the hypermobility type of Ehlers-Danlos syndrome and the joint hypermobility syndrome (a.k.a. hypermobility syndrome). | Q54307600 | ||
| CHST14/D4ST1 deficiency: New form of Ehlers-Danlos syndrome. | Q55059456 | ||
| 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. | Q55059990 | ||
| A Heritable Disorder of Connective Tissue | Q56094873 | ||
| Pain and sleep quality in children with non-vascular Ehlers-Danlos syndromes | Q57162236 | ||
| FKBP14-related Ehlers-Danlos syndrome: Expansion of the phenotype to include vascular complications | Q57197750 | ||
| Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in theCOL1A1 andCOL1A2 genes of type I collagen | Q57197822 | ||
| Ullrich congenital muscular dystrophy: Connective tissue abnormalities in the skin support overlap with Ehlers-Danlos syndromes | Q57334320 | ||
| Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome | Q57463083 | ||
| Sleep Disorders and Their Management in Children With Ehlers-Danlos Syndrome Referred to Sleep Clinics | Q57652403 | ||
| International nosology of heritable disorders of connective tissue, Berlin, 1986 | Q57752688 | ||
| A functional model of the human C1 complex | Q58161079 | ||
| Ehlers-Danlos syndromes: state of the art on clinical practice guidelines | Q58602881 | ||
| Osteogenesis imperfecta | Q59409624 | ||
| Molecular insights in the pathogenesis of classical Ehlers-Danlos syndrome from transcriptome-wide expression profiling of patients' skin fibroblasts | Q61800445 | ||
| A framework for the classification of joint hypermobility and related conditions | Q63302181 | ||
| Expanding the Clinical and Mutational Spectrum of Recessive -Related Classical-Like Ehlers-Danlos Syndrome | Q64251441 | ||
| Evidence for a relationship between Ehlers-Danlos type VII C in humans and bovine dermatosparaxis | Q67482926 | ||
| Collagen molecules comprised of alpha 1(V)-chains (B-chains): an apparent localization in the exocytoskeleton | Q70252920 | ||
| Third case of a distinct variant of the Ehlers‐Danlos Syndrome (EDS) | Q70999388 | ||
| Ehlers-Danlos syndrome | Q71472558 | ||
| 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) | Q71787214 | ||
| Characterization of the interactions of type XII collagen with two small proteoglycans from fetal bovine tendon, decorin and fibromodulin | Q71940033 | ||
| Differential ultrastructural aberrations of collagen fibrils in Ehlers-Danlos syndrome types I-IV as a means of diagnostics and classification | Q72387766 | ||
| DDAVP therapy controls bleeding in Ehlers-Danlos syndrome | Q73336467 | ||
| Brittle cornea syndrome and its delineation from the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI): report on 23 patients and review of the literature | Q79370592 | ||
| A novel arginine-to-cysteine substitution in the triple helical region of the alpha1(I) collagen chain in a family with an osteogenesis imperfecta/Ehlers-Danlos phenotype | Q79920822 | ||
| Collagen XII interacts with avian tenascin-X through its NC3 domain | Q79966217 | ||
| Aortic carboxypeptidase-like protein is expressed in collagen-rich tissues during mouse embryonic development | Q81481003 | ||
| Echocardiographic findings in classical and hypermobile Ehlers-Danlos syndromes | Q81624742 | ||
| P433 | issue | 1 | |
| P921 | main subject | Ehlers-Danlos syndrome | Q1141499 |
| P304 | page(s) | 64 | |
| P577 | publication date | 2020-07-30 | |
| P1433 | published in | Nature Reviews Disease Primers | Q24908540 |
| P1476 | title | The Ehlers-Danlos syndromes | |
| P478 | volume | 6 |
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