| scholarly article | Q13442814 |
| P356 | DOI | 10.1038/S41436-019-0470-9 |
| P698 | PubMed publication ID | 30837697 |
| P50 | author | Neeti Ghali | Q90384775 |
| Marie-Line Jacquemont | Q96203907 | ||
| P2093 | author name string | Fleur S van Dijk | |
| Deirdre Cilliers | |||
| Michael Frank | |||
| Duncan Baker | |||
| Dominique P Germain | |||
| Margo Whiteford | |||
| Nigel Burrows | |||
| Peter Kannu | |||
| David J S Hulmes | |||
| Angela F Brady | |||
| Anne Legrand | |||
| Elena Cervi | |||
| F Michael Pope | |||
| Anthony Vandersteen | |||
| Lisa Robertson | |||
| Kate von Klemperer | |||
| Henrietta Lefroy | |||
| Renarta Warburton | |||
| P2860 | cites work | Ehlers-Danlos syndrome type IV | Q21202967 |
| 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 | ||
| Ehlers-Danlos syndrome has varied molecular mechanisms | Q33678835 | ||
| Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type | Q33892636 | ||
| 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 | ||
| Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers-Danlos syndrome: a prospective randomised, open, blinded-endpoints trial. | Q34136829 | ||
| Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology | Q34465792 | ||
| The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome | Q36695702 | ||
| Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations | Q36843308 | ||
| The 2017 international classification of the Ehlers-Danlos syndromes | Q38743623 | ||
| Ehlers-Danlos syndrome, classical type | Q38758151 | ||
| Targeted next-generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndrome. | Q38802666 | ||
| Use of synthetic peptides to locate novel integrin alpha2beta1-binding motifs in human collagen III. | Q40343994 | ||
| The collαgen III fibril has a "flexi-rod" structure of flexible sequences interspersed with rigid bioactive domains including two with hemostatic roles | Q41006430 | ||
| Prediction of collagen stability from amino acid sequence | Q45308833 | ||
| Ehlers-Danlos syndrome type IV: a subset of patients distinguished by low serum levels of the amino-terminal propeptide of type III procollagen | Q45842476 | ||
| Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV). | Q45853276 | ||
| Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome: a systematic review | Q47859621 | ||
| 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 | ||
| Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria | Q49160999 | ||
| Ehlers-Danlos syndrome type I: a clinical and ultrastructural study of a family with reduced amounts of collagen type III. | Q49173096 | ||
| Lethal complications of the Ehlers-Danlos syndrome | Q49254264 | ||
| Recognizing the tenascin-X deficient type of Ehlers-Danlos syndrome: a cross-sectional study in 17 patients. | Q51539316 | ||
| Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome. | Q52615325 | ||
| Spontaneous ruptured dissection of the right common iliac artery in a patient with classic Ehlers-Danlos syndrome phenotype. | Q53030288 | ||
| Clinical, structural, biochemical and X-ray crystallographic correlates of pathogenicity for variants in the C-propeptide region of the COL3A1 gene. | Q53225417 | ||
| 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 | ||
| COL3A1 haploinsufficiency results in a variety of Ehlers-Danlos syndrome type IV with delayed onset of complications and longer life expectancy | Q57197765 | ||
| International nosology of heritable disorders of connective tissue, Berlin, 1986 | Q57752688 | ||
| Vascular aspects of the Ehlers-Danlos Syndromes | Q62058898 | ||
| COL3A1 mutations cause variable clinical phenotypes including acrogeria and vascular rupture | Q71706917 | ||
| Trachea rupture in tenascin-X-deficient type Ehlers-Danlos syndrome | Q84699092 | ||
| Recurrent gastrointestinal perforation in a patient with Ehlers-Danlos syndrome due to tenascin-X deficiency | Q86931338 | ||
| P433 | issue | 9 | |
| P921 | main subject | Ehlers-Danlos syndrome | Q1141499 |
| P304 | page(s) | 2081-2091 | |
| P577 | publication date | 2019-03-06 | |
| P1433 | published in | Genetics in Medicine | Q15765508 |
| P1476 | title | Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers-Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility | |
| P478 | volume | 21 |
| Q98176931 | The Ehlers-Danlos syndromes | cites work | P2860 |
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