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zadetkov: 218
1.
  • Molecular Genetics and Path... Molecular Genetics and Pathogenesis of Ehlers-Danlos Syndrome and Related Connective Tissue Disorders
    Ritelli, Marco; Colombi, Marina Genes, 05/2020, Letnik: 11, Številka: 5
    Journal Article
    Recenzirano
    Odprti dostop

    Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders (HCTDs) characterized by a variable degree of skin hyperextensibility, joint hypermobility and tissue fragility. The ...
Celotno besedilo
Dostopno za: NUK, UL, UM, UPUK

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2.
  • Differential diagnosis and ... Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders
    Colombi, Marina; Dordoni, Chiara; Chiarelli, Nicola ... American journal of medical genetics. Part C, Seminars in medical genetics, 03/2015, Letnik: 169C, Številka: 1
    Journal Article

    Joint hypermobility syndrome/Ehlers–Danlos syndrome hypermobility type (JHS/EDS‐HT) is an evolving and protean disorder mostly recognized by generalized joint hypermobility and without a defined ...
Celotno besedilo
Dostopno za: BFBNIB, FZAB, GIS, IJS, KILJ, NLZOH, NUK, OILJ, SAZU, SBCE, SBMB, UL, UM, UPUK
3.
  • Multisystemic manifestation... Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives
    Ritelli, Marco; Venturini, Marina; Cinquina, Valeria ... Orphanet journal of rare diseases, 07/2020, Letnik: 15, Številka: 1
    Journal Article
    Recenzirano
    Odprti dostop

    The Ehlers-Danlos syndromes (EDS) are rare connective tissue disorders consisting of 13 subtypes with overlapping features including joint hypermobility, skin and generalized connective tissue ...
Celotno besedilo
Dostopno za: IZUM, KILJ, NUK, PILJ, PNG, SAZU, UL, UM, UPUK

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4.
  • Transcriptome analysis of s... Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome
    Chiarelli, Nicola; Carini, Giulia; Zoppi, Nicoletta ... PloS one, 01/2018, Letnik: 13, Številka: 1
    Journal Article
    Recenzirano
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    Vascular Ehlers-Danlos syndrome (vEDS) is a dominantly inherited connective tissue disorder caused by mutations in the COL3A1 gene that encodes type III collagen (COLLIII), which is the major ...
Celotno besedilo
Dostopno za: DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK

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5.
  • Molecular insights in the p... Molecular insights in the pathogenesis of classical Ehlers-Danlos syndrome from transcriptome-wide expression profiling of patients' skin fibroblasts
    Chiarelli, Nicola; Carini, Giulia; Zoppi, Nicoletta ... PloS one, 02/2019, Letnik: 14, Številka: 2
    Journal Article
    Recenzirano
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    Classical Ehlers-Danlos syndrome (cEDS) is a dominant inherited connective tissue disorder mainly caused by mutations in the COL5A1 and COL5A2 genes encoding type V collagen (COLLV), which is a ...
Celotno besedilo
Dostopno za: DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK

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6.
  • Cellular and Molecular Mech... Cellular and Molecular Mechanisms in the Pathogenesis of Classical, Vascular, and Hypermobile Ehlers‒Danlos Syndromes
    Chiarelli, Nicola; Ritelli, Marco; Zoppi, Nicoletta ... Genes, 08/2019, Letnik: 10, Številka: 8
    Journal Article
    Recenzirano
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    The Ehlers‒Danlos syndromes (EDS) constitute a heterogenous group of connective tissue disorders characterized by joint hypermobility, skin abnormalities, and vascular fragility. The latest nosology ...
Celotno besedilo
Dostopno za: NUK, UL, UM, UPUK

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7.
  • Multifaced Roles of the αvβ... Multifaced Roles of the αvβ3 Integrin in Ehlers-Danlos and Arterial Tortuosity Syndromes' Dermal Fibroblasts
    Zoppi, Nicoletta; Chiarelli, Nicola; Ritelli, Marco ... International journal of molecular sciences, 03/2018, Letnik: 19, Številka: 4
    Journal Article
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    The αvβ3 integrin, an endothelial cells' receptor-binding fibronectin (FN) in the extracellular matrix (ECM) of blood vessels, regulates ECM remodeling during migration, invasion, angiogenesis, wound ...
Celotno besedilo
Dostopno za: IZUM, KILJ, NUK, PILJ, PNG, SAZU, UL, UM, UPUK

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8.
  • Ehlers–Danlos syndrome, cla... Ehlers–Danlos syndrome, classical type
    Bowen, Jessica M.; Sobey, Glenda J.; Burrows, Nigel P. ... American journal of medical genetics. Part C, Seminars in medical genetics, March 2017, Letnik: 175, Številka: 1
    Journal Article
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    Classical EDS is a heritable disorder of connective tissue. Patients are affected with joint hypermobility, skin hyperextensibilty, and skin fragility leading to atrophic scarring and significant ...
Celotno besedilo
Dostopno za: BFBNIB, FZAB, GIS, IJS, KILJ, NLZOH, NUK, OILJ, SAZU, SBCE, SBMB, UL, UM, UPUK

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9.
  • Transcriptome-Wide Expressi... Transcriptome-Wide Expression Profiling in Skin Fibroblasts of Patients with Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type
    Chiarelli, Nicola; Carini, Giulia; Zoppi, Nicoletta ... PloS one, 08/2016, Letnik: 11, Številka: 8
    Journal Article
    Recenzirano
    Odprti dostop

    Joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type (JHS/EDS-HT), is likely the most common systemic heritable connective tissue disorder, and is mostly recognized by generalized ...
Celotno besedilo
Dostopno za: DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK

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10.
  • Expanding the clinical and ... Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome
    Ritelli, Marco; Dordoni, Chiara; Cinquina, Valeria ... Orphanet journal of rare diseases, 09/2017, Letnik: 12, Številka: 1
    Journal Article
    Recenzirano
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    Spondylodysplastic EDS (spEDS) is a rare connective tissue disorder that groups the phenotypes caused by biallelic B4GALT7, B3GALT6, and SLC39A13 mutations. In the 2017 EDS nosology, minimal criteria ...
Celotno besedilo
Dostopno za: IZUM, KILJ, NUK, PILJ, PNG, SAZU, UL, UM, UPUK

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zadetkov: 218

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