| Nome |
# |
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Refining patterns of joint hypermobility, habitus, and orthopedic traits in joint hypermobility syndrome and Ehlers–Danlos syndrome, hypermobility type, file ddc633e3-46fb-4e2e-e053-3705fe0a4c80
|
939
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A cellular test for Ehlers-Danlos syndromes diagnosis., file ddc633e3-a946-4e2e-e053-3705fe0a4c80
|
809
|
|
Characterization and expression of slc2a10, the zebrafish ortholog of the human gene involved in arterial tortuosity syndrome., file ddc633e3-a947-4e2e-e053-3705fe0a4c80
|
629
|
|
Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome, file ddc633e2-aaeb-4e2e-e053-3705fe0a4c80
|
621
|
|
Further delineation of FKBP14-related Ehlers-Danlos syndrome: a patient with early vascular complications and non-progressive kyphoscoliosis, and literature review, file ddc633e3-6bdf-4e2e-e053-3705fe0a4c80
|
350
|
|
Risk Profile of Symptomatic Lacunar Stroke Versus Nonlobar Intracerebral Hemorrhage, file ddc633e3-273a-4e2e-e053-3705fe0a4c80
|
293
|
|
Antithrombotic medications and the etiology of intracerebral hemorrhage: MUCH-Italy., file ddc633e3-0131-4e2e-e053-3705fe0a4c80
|
287
|
|
Clinical and molecular characterization of an 18-month-old infant with autosomal recessive cutis laxa type 1C due to a novel LTBP4 pathogenic variant, and literature review, file ddc633e3-d8b2-4e2e-e053-3705fe0a4c80
|
253
|
|
Diagnosis of vascular Ehlers-Danlos syndrome in Italy: clinical findings and novel COL3A1 mutations, file ddc633e3-a94d-4e2e-e053-3705fe0a4c80
|
235
|
|
Mutations in TGFBR2 gene cause spontaneous cervical artery dissection, file ddc633e3-35de-4e2e-e053-3705fe0a4c80
|
194
|
|
Transcriptome-wide expression profiling in skin fibroblasts of patients with joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type, file ddc633e3-2064-4e2e-e053-3705fe0a4c80
|
179
|
|
Report on a patient with extremely fragile skin, dermatosparaxis, joint hypermobility, short stature, skeletal deformities, and lipomas: a new syndrome?, file ddc633e3-aae4-4e2e-e053-3705fe0a4c80
|
172
|
|
Cellular and molecular mechanisms in the pathogenesis of classical, vascular, and hypermobile ehlers‒danlos syndromes, file ddc633e3-f65d-4e2e-e053-3705fe0a4c80
|
168
|
|
Connective tissue anomalies in patients with spontaneous cervical artery dissection., file ddc633e3-0132-4e2e-e053-3705fe0a4c80
|
159
|
|
Expanding the clinical and mutational spectrum of recessive AEBP1-related classical-like Ehlers-Danlos syndrome, file ddc633e3-c868-4e2e-e053-3705fe0a4c80
|
159
|
|
Small fiber neuropathy is a common feature of Ehlers-Danlos syndromes, file ddc633e3-16fe-4e2e-e053-3705fe0a4c80
|
156
|
|
A novel homozygous SLC2A9 mutation associated with renal-induced hypouricemia, file ddc633e3-24a3-4e2e-e053-3705fe0a4c80
|
155
|
|
Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome, file ddc633e3-8b7d-4e2e-e053-3705fe0a4c80
|
148
|
|
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, file ddc633e3-9bb1-4e2e-e053-3705fe0a4c80
|
148
|
|
Molecular genetics and pathogenesis of Ehlers–Danlos syndrome and related connective tissue disorders, file ddc633e4-18ed-4e2e-e053-3705fe0a4c80
|
132
|
|
Decreased Nuclear Ascorbate Accumulation Accompanied with Altered Genomic Methylation Pattern in Fibroblasts from Arterial Tortuosity Syndrome Patients, file ddc633e3-c862-4e2e-e053-3705fe0a4c80
|
125
|
|
Clinical and molecular characterization of 40 patients with classic Ehlers--Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations., file ddc633e2-b9bf-4e2e-e053-3705fe0a4c80
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124
|
|
Towards the genetic basis of cerebral venous thrombosis-the BEAST Consortium: a study protocol., file ddc633e3-5668-4e2e-e053-3705fe0a4c80
|
124
|
|
MURC/cavin-4 is co-expressed with Caveolin-3 in rhabdomyosarcoma tumors and its silencing prevents myogenic differentiation in the human embryonal RD cell line, file ddc633e2-d241-4e2e-e053-3705fe0a4c80
|
123
|
|
Molecular Genetics and Pathogenesis of Ehlers–Danlos Syndrome and Related Connective Tissue Disorders.
Edited by Marina Colombi and Marco Ritelli, file ddc633e4-1711-4e2e-e053-3705fe0a4c80
|
118
|
|
Recurrent exercise-induced acute renal failure in a young Pakistani man with severe renal hypouricemia and SLC2A9 compound heterozygosity., file ddc633e2-bf76-4e2e-e053-3705fe0a4c80
|
116
|
|
Clinical variability in two Macedonian families with Arterial tortuosity syndrome, file ddc633e3-c85e-4e2e-e053-3705fe0a4c80
|
113
|
|
Glucose transporter type 10-lacking in arterial tortuosity syndrome-facilitates dehydroascorbic acid transport, file ddc633e3-1769-4e2e-e053-3705fe0a4c80
|
112
|
|
GLUT10-Lacking in Arterial Tortuosity Syndrome-Is Localized to the Endoplasmic Reticulum of Human Fibroblasts, file ddc633e3-6806-4e2e-e053-3705fe0a4c80
|
112
|
|
Molecular insights in the pathogenesis of classical Ehlers-Danlos syndrome from transcriptome-wide expression profiling of patients' skin fibroblasts, file ddc633e3-c866-4e2e-e053-3705fe0a4c80
|
112
|
|
Further defining the phenotypic spectrum of B3GAT3 mutations and literature review on linkeropathy syndromes, file ddc633e3-f65f-4e2e-e053-3705fe0a4c80
|
110
|
|
Differential Enzymatic Activity of Rat ADAR2 Splicing Variants Is Due to Altered Capability to Interact with RNA in the Deaminase Domain, file ddc633e3-891e-4e2e-e053-3705fe0a4c80
|
108
|
|
Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives, file ddc633e4-170f-4e2e-e053-3705fe0a4c80
|
106
|
|
Bruch's membrane abnormalities in PRDM5-related brittle cornea syndrome, file ddc633e2-db2a-4e2e-e053-3705fe0a4c80
|
102
|
|
Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel TNXB Variant, file ddc633e4-01b5-4e2e-e053-3705fe0a4c80
|
102
|
|
Identification of the novel COL5A1 c.3369_3431dup, p.(Glu1124_Gly1144dup) variant in a patient with incomplete classical Ehlers–Danlos syndrome: The importance of phenotype-guided genetic testing, file ddc633e4-128e-4e2e-e053-3705fe0a4c80
|
91
|
|
Expanding the PURA syndrome phenotype: A child with the recurrent PURA p.(Phe233del) pathogenic variant showing similarities with cutis laxa, file ddc633e4-26c1-4e2e-e053-3705fe0a4c80
|
82
|
|
Molecular characterization and transcriptome-wide expression profiling of two patients affected with spondyloepimetaphyseal dysplasia with joint laxity type, file ddc633e3-aae2-4e2e-e053-3705fe0a4c80
|
77
|
|
Dermal fibroblast-to-myofibroblast transition sustained by αvβ3 integrin-ILK-Snail1/Slug signaling is a common feature for hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders, file ddc633e3-8a8d-4e2e-e053-3705fe0a4c80
|
75
|
|
Classic Ehlers-danlos syndrome: clinical and molecular characterisation of 37 patients, file ddc633e3-a94b-4e2e-e053-3705fe0a4c80
|
69
|
|
GLUT10 deficiency leads to oxidative stress and non-canonical αvβ3 integrin-mediated TGFβ signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts, file ddc633e3-46ca-4e2e-e053-3705fe0a4c80
|
56
|
|
Type V and type III collagen modulate the expression and assembly of fibronectin extracellar matrix in classic and vascular Ehlers-Danlos syndrome fibroblasts, affecting cell survival and migration, file ddc633e3-a949-4e2e-e053-3705fe0a4c80
|
51
|
|
Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome, file ddc633e4-3d12-4e2e-e053-3705fe0a4c80
|
49
|
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Atypical variants in COL1A1 and COL3A1 associated with classical and vascular Ehlers-Danlos syndrome overlap phenotypes: expanding the clinical phenotype based on additional case reports, file d3d96750-a4ae-4ed5-85aa-b828a722c86b
|
48
|
|
Matrix metalloproteinases inhibition by doxycycline rescues extracellular matrix organization and partly reverts myofibroblast differentiation in hypermobile ehlers-danlos syndrome dermal fibroblasts: A potential therapeutic target?, file ddc633e4-5ca1-4e2e-e053-3705fe0a4c80
|
47
|
|
Mutations in TGFBR2 gene cause spontaneous cervical artery dissection, file ddc633e3-3479-4e2e-e053-3705fe0a4c80
|
46
|
|
Hereditary alpha-tryptasemia modifies clinical phenotypes among individuals with congenital hypermobility disorders, file ddc633e4-6c5c-4e2e-e053-3705fe0a4c80
|
45
|
|
Aortic rupture after thoracic endovascular repair in a patient with Familial Thoracic Aortic Aneurysm and Dissections type 6 (FTAAD6), file ddc633e2-dd08-4e2e-e053-3705fe0a4c80
|
42
|
|
Absence of collagen flowers on electron microscopy and identification of (likely) pathogenic COL5A1 variants in two patients, file ddc633e3-f661-4e2e-e053-3705fe0a4c80
|
41
|
|
Serum cholesterol levels, HMG-CoA reductase inhibitors and the risk of intracerebral haemorrhage. the Multicenter Study on Cerebral Haemorrhage in Italy (MUCH-Italy), file ddc633e4-5fac-4e2e-e053-3705fe0a4c80
|
39
|
|
High prevalence of radiological vertebral fractures in adult patients with Ehlers-Danlos syndrome, file ddc633e2-fdfa-4e2e-e053-3705fe0a4c80
|
31
|
|
Arterial Tortuosity Syndrome: a vitamin C compartmentation disease?, file ddc633e3-57f4-4e2e-e053-3705fe0a4c80
|
28
|
|
GLUT10 deficiency leads to oxidative stress and non-canonical avb3 integrin-mediated TGF signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts., file ddc633e3-5a2c-4e2e-e053-3705fe0a4c80
|
26
|
|
Dystrophic epidermolysis bullosa pruriginosa in Italy: molecular characterization and pathogenesic aspects, file ddc633e3-a514-4e2e-e053-3705fe0a4c80
|
21
|
|
Linee guida. Diagnosi delle epidermolisi bollose ereditarie., file ddc633e2-b04d-4e2e-e053-3705fe0a4c80
|
20
|
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RNA-Seq of Dermal Fibroblasts from Patients with Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders Supports Their Categorization as a Single Entity with Involvement of Extracellular Matrix Degrading and Proinflammatory Pathomechanisms, file 3847cbe7-c451-4027-b9e4-950b2fa13d30
|
19
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Connective tissue anomalies in patients with spontaneous cervical artery dissection., file ddc633e2-f828-4e2e-e053-3705fe0a4c80
|
17
|
|
Deciphering disease signatures and molecular targets in vascular Ehlers-Danlos syndrome through transcriptome and miRNome sequencing of dermal fibroblasts, file c14474ff-8c2d-4394-8858-b23e60ffe754
|
13
|
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Multifaced Roles of the αvβ3 Integrin in Ehlers–Danlos and Arterial Tortuosity Syndromes’ Dermal Fibroblasts, file ddc633e3-9ff5-4e2e-e053-3705fe0a4c80
|
10
|
|
Relationship between Multiple Forms of Plasminogen Activator in Human Breast Tumors and Plasma and the Presence of Metastases in Lymph Nodes, file ddc633e4-660a-4e2e-e053-3705fe0a4c80
|
10
|
|
Genotypic categorization of Loeys-Dietz syndrome based on 24 novel families and literature data, file ddc633e4-01b4-4e2e-e053-3705fe0a4c80
|
9
|
|
Ehlers–Danlos syndrome, classical type, file ddc633e3-47f7-4e2e-e053-3705fe0a4c80
|
8
|
|
Looking back and beyond the 2017 diagnostic criteria for hypermobile Ehlers-Danlos syndrome: A retrospective cross-sectional study from an Italian reference center, file ea5f6874-3578-4fbd-a29a-aa0c539e3a88
|
6
|
|
Antithrombotic medications and the etiology of intracerebral hemorrhage: MUCH-Italy., file ddc633e2-f826-4e2e-e053-3705fe0a4c80
|
5
|
|
Characterization and expression pattern analysis of the facilitative glucose transporter 10 gene (slc2a10) in Danio rerio, file ddc633e2-afe5-4e2e-e053-3705fe0a4c80
|
4
|
|
Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β, file ddc633e4-0367-4e2e-e053-3705fe0a4c80
|
4
|
|
Biological insights in the pathogenesis of hypermobile Ehlers-Danlos syndrome from proteome profiling of patients' dermal myofibroblasts, file ddc633e4-365d-4e2e-e053-3705fe0a4c80
|
3
|
|
Generation of the induced pluripotent stem cell line UNIBSi017-A from an individual with cardiospondylocarpofacial syndrome and the MAP3K7 c.737-7A > G variant., file cd7a9f97-dbeb-4825-88b1-e00bdeaee02b
|
2
|
|
Genetic heterogeneity in the Brittle Cornea Syndrome (BCS) –New evidences that ZNF469 and PRDM5 regulate extracellular matrix development and maintenance within the same pathway, file ddc633e2-a24a-4e2e-e053-3705fe0a4c80
|
2
|
|
Gynecologic and obstetric implications of the joint hypermobility syndrome (a.k.a. Ehlers-Danlos syndrome hypermobility type) in 82 Italian patients, file ddc633e2-be5e-4e2e-e053-3705fe0a4c80
|
2
|
|
Caveolin-1, Caveolin-2 and Cavin-1 are strong predictors of adipogenic differentiation in human tumors and cell lines of liposarcoma, file ddc633e3-0a0a-4e2e-e053-3705fe0a4c80
|
2
|
|
COL6A5 variants in familial neuropathic chronic itch, file ddc633e3-4b98-4e2e-e053-3705fe0a4c80
|
2
|
|
Application of the 2017 criteria for vascular Ehlers-Danlos syndrome in 50 patients ascertained according to the Villefranche nosology, file ddc633e3-fbf5-4e2e-e053-3705fe0a4c80
|
2
|
|
Exclusion of candidate genes in a family with arterial tortuosity syndrome, file ddc633e2-a9e6-4e2e-e053-3705fe0a4c80
|
1
|
|
Two novel SLC2A10/GLUT10 mutations in a patient with arterial tortuosity sindrome, file ddc633e2-aa6e-4e2e-e053-3705fe0a4c80
|
1
|
|
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, file ddc633e2-abaf-4e2e-e053-3705fe0a4c80
|
1
|
|
Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance., file ddc633e2-afe6-4e2e-e053-3705fe0a4c80
|
1
|
|
Diagnosis of vascular Ehlers-Danlos syndrome in Italy: clinical findings and novel COL3A1 mutations., file ddc633e2-b022-4e2e-e053-3705fe0a4c80
|
1
|
|
Congenital myopathy Ehlers-Danlos overlap syndrome caused by the deficiency of an enzyme involved in protein folding in the endoplasmic reticulum: identification and characterization of a novel disorder., file ddc633e2-b063-4e2e-e053-3705fe0a4c80
|
1
|
|
Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, file ddc633e2-b8b3-4e2e-e053-3705fe0a4c80
|
1
|
|
Recurring and generalized visceroptosis in Ehlers-Danlos syndrome hypermobility type, file ddc633e2-b9b7-4e2e-e053-3705fe0a4c80
|
1
|
|
Nosology and inheritance pattern(s) of joint hypermobility syndrome and Ehlers-Danlos syndrome, hypermobility type: A study of intrafamilial and interfamilial variability in 23 Italian pedigrees., file ddc633e2-b9d0-4e2e-e053-3705fe0a4c80
|
1
|
|
Type III and V collagens modulate the expression and assembly of EDA+ fibronectin in the extracellular matrix of defective Ehlers-Danlos syndrome fibroblasts, file ddc633e2-bc62-4e2e-e053-3705fe0a4c80
|
1
|
|
Phosphocaveolin-1 enforces tumor growth and chemoresistance in rhabdomyosarcoma, file ddc633e2-bdb6-4e2e-e053-3705fe0a4c80
|
1
|
|
Management of pain and fatigue in the joint hypermobility syndrome (a.k.a. Ehlers-Danlos syndrome, hypermobility type): Principles and proposal for a multidisciplinary approach, file ddc633e2-be5d-4e2e-e053-3705fe0a4c80
|
1
|
|
Cavin-1 and Caveolin-1 are both required to support cell proliferation, migration and anchorage-independent cell growth in rhabdomyosarcoma., file ddc633e2-d240-4e2e-e053-3705fe0a4c80
|
1
|
|
Melatonin decreases cell proliferation, impairs myogenic differentiation and triggers apoptotic cell death in rhabdomyosarcoma cell lines, file ddc633e2-d438-4e2e-e053-3705fe0a4c80
|
1
|
|
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, file ddc633e3-5129-4e2e-e053-3705fe0a4c80
|
1
|
|
Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers-Danlos syndrome patients, file ddc633e3-8c61-4e2e-e053-3705fe0a4c80
|
1
|
|
Exploring relationships between joint hypermobility and neurodevelopment in children (4–13 years) with hereditary connective tissue disorders and developmental coordination disorder, file ddc633e3-bd47-4e2e-e053-3705fe0a4c80
|
1
|
|
Italian validation of the functional difficulties questionnaire (FDQ-9) and its correlation with major determinants of quality of life in adults with hypermobile Ehlers–Danlos syndrome/hypermobility spectrum disorder, file ddc633e3-c860-4e2e-e053-3705fe0a4c80
|
1
|
|
A Child With Self-Improving Hypotonia: Look at the Skin!, file ddc633e4-18ee-4e2e-e053-3705fe0a4c80
|
1
|
| Totale |
9.016 |