| scholarly article | Q13442814 |
| P356 | DOI | 10.1002/AJMG.1320290316 |
| P698 | PubMed publication ID | 3287925 |
| P50 | author | David Rimoin | Q1176331 |
| John Marius Opitz | Q99194 | ||
| P2093 | author name string | P. Beighton | |
| F. M. Pope | |||
| V. A. McKusick | |||
| J. G. Hall | |||
| R. Goodman | |||
| G. Finidori | |||
| I. Young | |||
| T. Gedde-Dahl | |||
| E. Thompson | |||
| D. W. Hollister | |||
| J. W. Spranger | |||
| James F. Reynolds | |||
| W. Horton | |||
| D. Danks | |||
| I. Winship | |||
| R. E. Pyeritz | |||
| P. Tsipouras | |||
| D. Viljoen | |||
| D. Sillence | |||
| A. de Paepe | |||
| P433 | issue | 3 | |
| P921 | main subject | connective tissue | Q25615 |
| P304 | page(s) | 581-594 | |
| P577 | publication date | 1988-03-01 | |
| P1433 | published in | American Journal of Medical Genetics Part A | Q15755121 |
| P1476 | title | International nosology of heritable disorders of connective tissue, Berlin, 1986 | |
| P478 | volume | 29 |
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| Q90092529 | A case of Ehlers-Danlos syndrome presenting with widened atrophic scars of forehead, elbow, knee, and pretibial area: A case report |
| Q42431508 | A case of Marfan syndrome with acute monoblastic leukemia |
| Q33677783 | A clinical severity grading scale for Marfan syndrome |
| Q48141000 | A cysteine for glycine substitution at position 175 in an alpha 1 (I) chain of type I collagen produces a clinically heterogeneous form of osteogenesis imperfecta |
| Q44643579 | A descriptive study of ocular characteristics in Marfan syndrome |
| Q33593705 | A linkage map of 10 loci flanking the Marfan syndrome locus on 15q: results of an International Consortium study. |
| Q34219428 | A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome |
| Q35196578 | A mutation in the pro alpha 2(I) gene (COL1A2) for type I procollagen in Ehlers-Danlos syndrome type VII: evidence suggesting that skipping of exon 6 in RNA splicing may be a common cause of the phenotype. |
| Q24318493 | A point mutation in an intronic branch site results in aberrant splicing of COL5A1 and in Ehlers-Danlos syndrome type II in two British families |
| Q74312976 | A rare case of head injury associated with Ehlers-Danlos syndrome |
| Q36099630 | A second locus for Marfan syndrome maps to chromosome 3p24.2-p25. |
| Q38053510 | A systematic review of the pharmacological management of aortic root dilation in Marfan syndrome. |
| Q24318344 | Abnormal dentin structure in two novel gene mutations [COL1A1, Arg134Cys] and [ADAMTS2, Trp795-to-ter] causing rare type I collagen disorders |
| Q35832495 | Abnormal fibrillin metabolism in bovine Marfan syndrome. |
| Q49144384 | Abnormal mechanical properties of the aorta in Marfan's syndrome |
| Q35643159 | An RNA-splicing mutation (G+5IVS20) in the type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita |
| Q33678012 | An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome |
| Q36817236 | Aortic distensibility and stiffness index measured by magnetic resonance imaging in patients with Marfan's syndrome |
| Q39464795 | Aortic events in a nationwide Marfan syndrome cohort |
| Q33672810 | Ascertainment and severity of Marfan syndrome in a Scottish population |
| Q52003222 | Association between psychiatric disorders and Marfan's syndrome in a large Sardinian family with a high prevalence of cardiac abnormalities. |
| Q40165357 | Associations of Age and Sex With Marfan Phenotype: The National Heart, Lung, and Blood Institute GenTAC (Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions) Registry |
| Q73353338 | Atrio-ventricular valve dysplasia in 22 newborn infants |
| Q92150156 | Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers-Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility |
| Q35194631 | Autosomal dominant Marfan-like connective-tissue disorder with aortic dilation and skeletal anomalies not linked to the fibrillin genes |
| Q83207674 | Badly engineered fibrillin lessons from molecular studies of marfan syndrome |
| Q47645094 | Beta-blockers for preventing aortic dissection in Marfan syndrome. |
| Q24291045 | COL5A1 exon 14 splice acceptor mutation causes a functional null allele, haploinsufficiency of alpha 1(V) and abnormal heterotypic interstitial fibrils in Ehlers-Danlos syndrome II |
| Q24540243 | COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS |
| Q96230221 | Cardiac involvement in classical or hypermobile Ehlers-Danlos syndrome is uncommon |
| Q73838450 | Cardiac operations in children with Marfan's syndrome: indications and results |
| Q30454633 | Cardiovascular magnetic resonance in Marfan syndrome |
| Q45084264 | Cardiovascular manifestations in men and women carrying a FBN1 mutation |
| Q34085312 | Cardiovascular surgery for Marfan syndrome |
| Q91645246 | Case-matched Comparison of Cardiovascular Outcome in Loeys-Dietz Syndrome versus Marfan Syndrome |
| Q64235568 | Characteristics of mitral valve leaflet length in patients with pectus excavatum: A single center cross-sectional study |
| Q35197121 | Characterization of a COL1A1 splicing defect in a case of Ehlers-Danlos syndrome type VII: further evidence of molecular homogeneity |
| Q73422108 | Characterization of microsatellite markers flanking FBN1: utility in the diagnostic evaluation for Marfan syndrome |
| Q35831788 | Chromosomal and genetic forms of growth failure |
| Q73598555 | Chronic pain is a manifestation of the Ehlers-Danlos syndrome |
| Q37789608 | Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type |
| Q58782062 | Clinical diagnosis of Larsen syndrome, Stickler syndrome and Loeys-Dietz syndrome in a 19-year old male: a case report |
| Q36519480 | Clinical features of Ehlers-Danlos syndrome |
| Q67482103 | Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains |
| Q56988782 | Clustering of mutations associated with mild Marfan-like phenotypes in the 3? region ofFBN1 suggests a potential genotype-phenotype correlation |
| Q33561431 | Color flow and conventional echocardiography of the Marfan syndrome |
| Q73465695 | Connective tissue naevus (collagenoma) in a patient with benign joint hypermobility syndrome (Ehlers-Danlos syndrome type III) |
| Q36403212 | Corneal Deformation Response and Ocular Geometry: A Noninvasive Diagnostic Strategy in Marfan Syndrome |
| Q73564949 | Correlation between clinical and histologic patterns of degenerative mitral valve insufficiency: a histomorphometric study of 130 excised segments |
| Q35197948 | Cosegregation of elastin-associated microfibrillar abnormalities with the Marfan phenotype in families |
| Q73074673 | Cosegregation of the Marfan syndrome and the long QT syndrome in the same family leads to a severe cardiac phenotype |
| Q34806881 | Current insights in diagnosis and management of the cardiovascular complications of Marfan's syndrome |
| Q30535299 | Detection of abnormal aortic elastic properties in asymptomatic patients with Marfan syndrome by combined transoesophageal echocardiography and acoustic quantification |
| Q40179615 | Developmental Coordination Disorder and Joint Hypermobility Syndrome--overlapping disorders? Implications for research and clinical practice |
| Q47117228 | Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome |
| Q72387766 | Differential ultrastructural aberrations of collagen fibrils in Ehlers-Danlos syndrome types I-IV as a means of diagnostics and classification |
| Q38391989 | Difficulties in diagnosing Marfan syndrome using current FBN1 databases |
| Q24308050 | Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type |
| Q49170014 | Dural ectasia and the diagnosis of Marfan's syndrome |
| Q35946338 | Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study |
| Q44931305 | Ehlers Danlos syndrome type I with novel dental features |
| Q28078874 | Ehlers-Danlos Syndrome-Hypermobility Type: A Much Neglected Multisystemic Disorder |
| Q67790692 | Ehlers-Danlos syndrome |
| Q37779024 | Ehlers-Danlos syndrome and neurological features: a review. |
| Q36927241 | Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation |
| Q33678835 | Ehlers-Danlos syndrome has varied molecular mechanisms |
| Q67693866 | Ehlers-Danlos syndrome type VII: a single base change that causes exon skipping in the type I collagen ?2(I) chain |
| Q72566023 | Ehlers-Danlos syndrome type VII: phenotype and genotype |
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| Q38758151 | Ehlers-Danlos syndrome, classical type |
| Q36359995 | Elucidation of the gene defect in Marfan syndrome. Success by two complementary research strategies |
| Q33762331 | Epidural Anesthesia for Cesarean Section in a Pregnant Woman with Marfan Syndrome and Dural Ectasia. |
| Q34765778 | Epidural anesthesia for cesarean section in a patient with Marfan syndrome and dural ectasia -A case report-. |
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| Q39139870 | Evaluating the quality of Marfan genotype-phenotype correlations in existing FBN1 databases |
| Q95432342 | Evaluation of the adolescent or adult with some features of Marfan syndrome |
| Q67482926 | Evidence for a relationship between Ehlers-Danlos type VII C in humans and bovine dermatosparaxis |
| Q35254122 | Evolving phenotype of Marfan's syndrome |
| Q33887582 | Examination and treatment of a patient with hypermobility syndrome |
| Q39881667 | Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue |
| Q77953376 | Extensive aortic reconstruction for aortic aneurysms in Marfan syndrome |
| Q41099958 | Fibrillln mutations in Marfan syndrome and related phenotypes |
| Q35643503 | Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons |
| Q40575361 | Genetic linkage analysis of hereditary arthro-ophthalmopathy (Stickler syndrome) and the type II procollagen gene. |
| Q38601760 | Genetics of hereditary large vessel diseases |
| Q26828019 | Genetics of thoracic aortic aneurysm: at the crossroad of transforming growth factor-β signaling and vascular smooth muscle cell contractility |
| Q37993426 | Genetics of thoracic aortic aneurysms |
| Q57985096 | HEMARTHROSIS DUE TO A RARE CAUSE OF HEMORRHAGIC DIATHESIS: Ehlers-Danlos Syndrome |
| Q40964005 | Hemostasis in Ehlers-Danlos syndrome. Patient report and literature review |
| Q34221858 | Heritable collagen disorders: from genotype to phenotype |
| Q58071857 | Heterogeneous aortic response to acute β-adrenergic blockade in Marfan syndrome |
| Q97095050 | Hypermobile Ehlers-Danlos Syndromes: Complex Phenotypes, Challenging Diagnoses and Poorly Understood Causes |
| Q39113194 | Hypermobile Ehlers-Danlos syndrome (a.k.a. Ehlers-Danlos syndrome Type III and Ehlers-Danlos syndrome hypermobility type): Clinical description and natural history |
| Q73283061 | Immunohistochemical abnormalities of fibrillin in cardiovascular tissues in Marfan's syndrome |
| Q57011982 | Importance of dural ectasia in phenotypic assessment of Marfan's syndrome |
| Q36660642 | Infantile Marfan syndrome in a Korean tertiary referral center |
| Q41809655 | Infectious endocarditis complicated by an ischemic stroke and revealing Marfan syndrome |
| Q37988504 | Interventional treatment methods in patients with Marfan Syndrome. |
| Q48620633 | Intracranial aneurysms in Marfan's syndrome: an autopsy study |
| Q71408861 | Is the metacarpal index useful in the diagnosis of Marfan syndrome? |
| Q33634087 | Joint hypermobility and genetic collagen disorders: are they related? |
| Q49119962 | Joint position sense and vibratory perception sense in patients with Ehlers-Danlos syndrome type III (hypermobility type). |
| Q57222332 | Life expectancy in the Marfan syndrome |
| Q40777488 | Living a restricted life with Ehlers-Danlos syndrome (EDS). |
| Q74705142 | Long-term prognosis of surgically-treated aortic aneurysms and dissections in patients with and without Marfan syndrome |
| Q44442499 | Magnetic resonance imaging of the main pulmonary artery: reliable assessment of dimensions in Marfan patients on a simple axial spin echo image |
| Q39718540 | Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene |
| Q34648993 | Marfan Database (third edition): new mutations and new routines for the software |
| Q35602882 | Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene |
| Q50561098 | Marfan syndrome and other systemic disorders with congenital ectopia lentis. A Danish national survey |
| Q34246137 | Marfan syndrome in a female collegiate basketball player: a case report. |
| Q35366309 | Marfan syndrome in children and adolescents: an adjusted nomogram for screening aortic root dilatation. |
| Q35368617 | Marfan syndrome in children and adolescents: predictive and prognostic value of aortic root growth for screening for aortic complications. |
| Q34982429 | Marfan syndrome in the third Millennium |
| Q42559783 | Marfan syndrome or Marfan-like connective-tissue disorder |
| Q33677345 | Marfan syndrome. |
| Q37721135 | Marfan syndrome. Part 1: pathophysiology and diagnosis |
| Q26747739 | Marfan syndrome: current perspectives |
| Q35196800 | Marfan syndrome: no evidence for heterogeneity in different populations, and more precise mapping of the gene |
| Q36266031 | Marfan syndrome: what internists and pediatric or adult cardiologists need to know |
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| Q43147080 | Molecular heterogeneity: a clinical dilemma. Clinical heterogeneity: a molecular dilemma. |
| Q34388195 | Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome |
| Q90377747 | Multiple spontaneous coronary artery ruptures and cardiac tamponade in vascular Ehlers-Danlos syndrome |
| Q35473537 | Muscle fibrillin deficiency in Marfan's syndrome myopathy |
| Q48883985 | Musculoskeletal complaints, physical activity and health-related quality of life among patients with the Ehlers-Danlos syndrome hypermobility type |
| Q34337855 | Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome |
| Q95280643 | Myopic regression and recurrent Salzmann nodule degeneration after laser in situ keratomileusis in Ehlers Danlos Syndrome |
| Q33931523 | Natural history of cardiovascular manifestations in Marfan syndrome |
| Q33596757 | Neonatal Marfan syndrome with congenital arachnodactyly, flexion contractures, and severe cardiac valve insufficiency |
| Q33802533 | Neonatal Marfan syndrome: a successful early multidisciplinary approach |
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| Q49068532 | Ocular findings in 87 adults with Ghent-1 verified Marfan syndrome. |
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| Q36683618 | Osteoporosis and the Marfan syndrome |
| Q34383128 | Pectus excavatum and heritable disorders of the connective tissue. |
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| Q48183938 | Periodontal manifestations of Ehlers-Danlos syndromes: A systematic review |
| Q39158416 | Peripartum type B aortic dissection in patients with Marfan syndrome who underwent aortic root replacement: a case series study |
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| Q67965471 | Phenotypic variability and abnormal type I collagen unstable at body temperature in a family with mild dominant osteogenesis imperfecta |
| Q43561573 | Platelet and coagulation studies in Ehlers-Danlos syndrome |
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| Q48210878 | Postural headache in a patient with Marfan's syndrome |
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