Marina Colombi researcher
Colombi, Marina
VIAF ID: 90247253 (Personal)
Permalink: http://viaf.org/viaf/90247253
Preferred Forms
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200 _ 1 ‡a Colombi ‡b , Marina
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100 0 _ ‡a Marina Colombi ‡c researcher
4xx's: Alternate Name Forms (2)
Works
Title | Sources |
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Absence of Collagen Flowers on Electron Microscopy and Identification of (Likely) Pathogenic COL5A1 Variants in Two Patients |
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Aliante : poesie dal 1975 al 1985 / Marina Colombi |
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Altered fibronectin mRNA splicing in skin fibroblasts from Ehlers-Danlos syndrome patients: in situ hybridization analysis |
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Analysis of risk factors predicting thrombotic and/or haemorrhagic complications in 306 patients with essential thrombocythemia |
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Angiokeratoma corporis diffusum and arteriovenous fistulas with dominant transmission in the absence of metabolic disorders |
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Aortic dissection and stroke in a 37-year-old woman: discovering an emerging heritable connective tissue disorder |
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Application of the 2017 criteria for vascular Ehlers-Danlos syndrome in 50 patients ascertained according to the Villefranche nosology |
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Biologia e genetica del muscolo / Nicoletta Zoppi, Marina Colombi |
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Cavin-1 and Caveolin-1 are both required to support cell proliferation, migration and anchorage-independent cell growth in rhabdomyosarcoma |
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Characterization and expression pattern analysis of the facilitative glucose transporter 10 gene (slc2a10) in Danio rerio. |
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Chronic glutamate treatment selectively modulates AMPA RNA editing and ADAR expression and activity in primary cortical neurons. |
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Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β |
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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 |
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Clinical, neuroradiological and molecular features of a patient affected by pseudoxhantoma elasticum associated to carotid rete mirabile: case report. |
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COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap |
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Complications of acute stroke and the occurrence of early seizures. |
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Compound heterozygosity for a novel and a recurrent ABCC6 gene mutation in an Italian family with Pseudoxanthoma elasticum |
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Denaturing HPLC-based approach for detection of COL7A1 gene mutations causing dystrophic epidermolysis bullosa |
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Dettagli protagonisti / Marina Colombi |
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Dexamethasone-induced healing of chronic leg ulcers in a patient with defective organization of the extracellular matrix of fibronectin |
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Dystrophic epidermolysis bullosa pruriginosa in Italy: clinical and molecular characterization |
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Essential thrombocythemia in pregnancy: report of four cases |
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Exclusion of stromelysin-1, stromelysin-2, interstitial collagenase and fibronectin genes as the mutant loci in a family with recessive epidermolysis bullosa dystrophica and a form of cerebellar ataxia |
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Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome. |
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Expanding the PURA syndrome phenotype: A child with the recurrent PURA p.(Phe233del) pathogenic variant showing similarities with cutis laxa |
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Expression of transformation markers and suppression of tumorigenicity in human cell hybrids |
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Further delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation. |
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Genomic organisation and chromosomal localisation of the gene encoding human beta adducin |
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Gynecologic and obstetric implications of the joint hypermobility syndrome |
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Histological human papillomavirus induced lesions: typization by molecular hybridization techniques |
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Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13 |
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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 |
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Human fibronectin gene (FN1) RFLPs: mapping and linkage disequilibrium analysis |
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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 |
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Identification of two novel ATP6V0A2 mutations in an infant with cutis laxa by exome sequencing. |
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Immunoglobulin M monoclonal gammopathies of undetermined significance and indolent Waldenstrom's macroglobulinemia recognize the same determinants of evolution into symptomatic lymphoid disorders: proposal for a common prognostic scoring system. |
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Late diagnosis of lateral meningocele syndrome in a 55-year-old woman with symptoms of joint instability and chronic musculoskeletal pain. |
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Loss of heterozygosity on chromosome 11p13 in primary bladder carcinoma |
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Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss |
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Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance |
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Mutations in TGFBR2 gene cause spontaneous cervical artery dissection |
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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 |
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The novel p.G150R missense mutation in the cartilage matrix protein subdomain of type VII collagen in compound heterozigosity with the c.682+1G>A COL7A1 splicing mutation leads to mild dystrophic epidermolysis bullosa |
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De novo occurrence of the 730insG recurrent mutation in an Italian family with the ichthyotic variant of Vohwinkel syndrome, loricrin keratoderma |
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Obesity and the risk of intracerebral hemorrhage: the multicenter study on cerebral hemorrhage in Italy |
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Palmoplantar keratoderma, pseudo-ainhum, and universal atrichia: A new patient and review of the palmoplantar keratoderma-congenital alopecia syndrome |
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Phosphocaveolin-1 enforces tumor growth and chemoresistance in rhabdomyosarcoma. |
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A pilot study of low-dose subcutaneous alemtuzumab therapy for patients with hemotherapy-refractory chronic lymphocytic leukemia. |
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Plasminogen activators in nude mice xenotransplanted with human tumorigenic cells |
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Principi di genetica molecolare / Sergio Barlati, Marina Colombi |
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A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations. |
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Recurrence of the p.R156X TNNI2 mutation in distal arthrogryposis type 2B |
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Recurrent exercise-induced acute renal failure in a young Pakistani man with severe renal hypouricemia and SLC2A9 compound heterozygosity |
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Recurring and generalized visceroptosis in Ehlers-Danlos syndrome hypermobility type |
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Relationship between multiple forms of plasminogen activator in human breast tumors and plasma and the presence of metastases in lymph nodes |
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Specchi di carta / Marina Colombi |
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Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers-Danlos syndrome patients. |
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Spontaneous coronary artery dissection in a young woman with Loeys-Dietz syndrome |
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Study of conformational properties of a biologically active peptide of fibronectin by circular dichroism, NMR and molecular dynamics simulation. |
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Study of fibronectin expression in tumour cells by dot-blot and in situ hybridization: quantitative evaluation by image analysis. |
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Thoracic aortic aneurysm in infancy in aneurysms-osteoarthritis syndrome due to a novel SMAD3 mutation: further delineation of the phenotype |
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Three homozygous PTC mutations in the collagen type VII gene of patients affected by recessive dystrophic epidermolysis bullosa: analysis of transcript levels in dermal fibroblasts |
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Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome. |
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Two novel SLC2A10/GLUT10 mutations in a patient with arterial tortuosity syndrome |
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Type III and V collagens modulate the expression and assembly of EDA(+) fibronectin in the extracellular matrix of defective Ehlers-Danlos syndrome fibroblasts. |
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Wound repair capability in EDS fibroblasts can be retrieved by exogenous type V collagen. |
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X-linked reticulate pigmentary disorder with systemic manifestations: a new family and review of the literature |
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