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ArticlesPeer ReviewedFull Text
Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives
Author / Creator:Ritelli, Marco ; Venturini, Marina ; Cinquina, Valeria ; Chiarelli, Nicola ; Colombi, Marina
Publisher:London: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2020-07, Vol.15 (1), p.1-197, Article 197
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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
Author / Creator:Chiarelli, Nicola ; Carini, Giulia ; Zoppi, Nicoletta ; Ritelli, Marco ; Colombi, Marina
Publisher:United States: Public Library of Science
Journal title:PloS one, 2018-01, Vol.13 (1), p.e0191220-e0191220
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Molecular insights in the pathogenesis of classical Ehlers-Danlos syndrome from transcriptome-wide expression profiling of patients' skin fibroblasts
Author / Creator:Chiarelli, Nicola ; Carini, Giulia ; Zoppi, Nicoletta ; Ritelli, Marco ; Colombi, Marina
Publisher:United States: Public Library of Science
Journal title:PloS one, 2019-02, Vol.14 (2), p.e0211647-e0211647
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Cellular and Molecular Mechanisms in the Pathogenesis of Classical, Vascular, and Hypermobile Ehlers‒Danlos Syndromes
Author / Creator:Chiarelli, Nicola ; Ritelli, Marco ; Zoppi, Nicoletta ; Colombi, Marina
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2019-08, Vol.10 (8), p.609
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Transcriptome-Wide Expression Profiling in Skin Fibroblasts of Patients with Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type
Author / Creator:Chiarelli, Nicola ; Carini, Giulia ; Zoppi, Nicoletta ; Dordoni, Chiara ; Ritelli, Marco ; Venturini, Marina ; Castori, Marco ; Colombi, Marina
Publisher:United States: Public Library of Science
Journal title:PloS one, 2016-08, Vol.11 (8), p.e0161347-e0161347
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Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome
Author / Creator:Ritelli, Marco ; Dordoni, Chiara ; Cinquina, Valeria ; Venturini, Marina ; Calzavara-Pinton, Piergiacomo ; Colombi, Marina
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2017-09, Vol.12 (1), p.153-7, Article 153
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Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes
Author / Creator:Ritelli, Marco ; Cinquina, Valeria ; Giacopuzzi, Edoardo ; Venturini, Marina ; Chiarelli, Nicola ; Colombi, Marina
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2019-08, Vol.10 (9), p.631
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Expanding the Clinical and Mutational Spectrum of Recessive AEBP1 -Related Classical-Like Ehlers-Danlos Syndrome
Author / Creator:Ritelli, Marco ; Cinquina, Valeria ; Venturini, Marina ; Pezzaioli, Letizia ; Formenti, Anna Maria ; Chiarelli, Nicola ; Colombi, Marina
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2019-02, Vol.10 (2), p.135
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ArticlesPeer ReviewedFull Text
Matrix Metalloproteinases Inhibition by Doxycycline Rescues Extracellular Matrix Organization and Partly Reverts Myofibroblast Differentiation in Hypermobile Ehlers-Danlos Syndrome Dermal Fibroblasts:...
Author / Creator:Chiarelli, Nicola ; Zoppi, Nicoletta ; Venturini, Marina ; Capitanio, Daniele ; Gelfi, Cecilia ; Ritelli, Marco ; Colombi, Marina
Publisher:Switzerland: MDPI AG
Journal title:Cells (Basel, Switzerland), 2021-11, Vol.10 (11), p.3236
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Expanding the PURA syndrome phenotype: A child with the recurrent PURA p.(Phe233del) pathogenic variant showing similarities with cutis laxa
Author / Creator:Cinquina, Valeria ; Ciaccio, Claudia ; Venturini, Marina ; Masson, Riccardo ; Ritelli, Marco ; Colombi, Marina
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2021-01, Vol.9 (1), p.e1562-n/a
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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
Author / Creator:Ritelli, Marco ; Cinquina, Valeria ; Venturini, Marina ; Colombi, Marina
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2020-10, Vol.8 (10), p.e1422-n/a
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ArticlesPeer ReviewedFull Text
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 Extracellu...
Author / Creator:Ritelli, Marco ; Chiarelli, Nicola ; Cinquina, Valeria ; Zoppi, Nicoletta ; Bertini, Valeria ; Venturini, Marina ; Colombi, Marina
Publisher:Switzerland: MDPI AG
Journal title:Cells (Basel, Switzerland), 2022-12, Vol.11 (24), p.4040
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ArticlesPeer ReviewedFull Text
Integrative Multi-Omics Approach in Vascular Ehlers-Danlos Syndrome: Further Insights into the Disease Mechanisms by Proteomic Analysis of Patient Dermal Fibroblasts
Author / Creator:Chiarelli, Nicola ; Cinquina, Valeria ; Zoppi, Nicoletta ; Bertini, Valeria ; Maddaluno, Marianna ; De Leonibus, Chiara ; Settembre, Carmine ; Venturini, Marina ; Colombi, Marina ; Ritelli, Marco
Publisher:Switzerland: MDPI AG
Journal title:Biomedicines, 2024-11, Vol.12 (12), p.2749
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ArticlesPeer ReviewedFull Text
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
Author / Creator:Ritelli, Marco ; Cammarata‐Scalisi, Francisco ; Cinquina, Valeria ; Colombi, Marina
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2019-07, Vol.7 (7), p.e00735-n/a
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ArticlesPeer ReviewedFull Text
Complications of Acute Stroke and the Occurrence of Early Seizures
Author / Creator:Pezzini, Alessandro ; Grassi, Mario ; Del Zotto, Elisabetta ; Giossi, Alessia ; Volonghi, Irene ; Costa, Paolo ; Poli, Loris ; Morotti, Andrea ; Gamba, Massimo ; Ritelli, Marco ; Colombi, Marina ; Padovani, Alessandro
Publisher:Basel, Switzerland: S. Karger AG
Journal title:Cerebrovascular diseases (Basel, Switzerland), 2013-01, Vol.35 (5), p.444-450
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ArticlesPeer ReviewedFull Text
Molecular Genetics and Pathogenesis of Ehlers-Danlos Syndrome and Related Connective Tissue Disorders
Author / Creator:Ritelli, Marco ; Colombi, Marina
Publisher:Switzerland: MDPI
Journal title:Genes, 2020-05, Vol.11 (5), p.547
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ArticlesPeer ReviewedFull Text
Arterial tortuosity syndrome in two Italian paediatric patients
Author / Creator:Ritelli, Marco ; Drera, Bruno ; Vicchio, Mariano ; Puppini, Giovanni ; Biban, Paolo ; Pilati, Mara ; Prioli, Maria Antonia ; Barlati, Sergio ; Colombi, Marina
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2009-09, Vol.4 (1), p.20-20, Article 20
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ArticlesPeer ReviewedFull Text
Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients
Author / Creator:Drera, Bruno ; Ritelli, Marco ; Zoppi, Nicoletta ; Wischmeijer, Anita ; Gnoli, Maria ; Fattori, Rossella ; Calzavara-Pinton, Pier Giacomo ; Barlati, Sergio ; Colombi, Marina
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2009-11, Vol.4 (1), p.24-24, Article 24
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ArticlesPeer ReviewedFull Text
Clinical, neuroradiological and molecular features of a patient affected by pseudoxhantoma elasticum associated to carotid rete mirabile : Case report
Author / Creator:Del Zotto, Elisabetta ; Ritelli, Marco ; Pezzini, Alessandro ; Drera, Bruno ; Gamba, Massimo ; Giossi, Alessia ; Volonghi, Irene ; Costa, Paolo ; Barlati, Sergio ; Gasparotti, Roberto ; Padovani, Alessandro ; Colombi, Marina
Publisher:Amsterdam: Elsevier B.V
Journal title:Clinical neurology and neurosurgery, 2012-07, Vol.114 (6), p.758-761
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ArticlesPeer ReviewedFull Text
Multifaced Roles of the αvβ3 Integrin in Ehlers-Danlos and Arterial Tortuosity Syndromes' Dermal Fibroblasts
Author / Creator:Zoppi, Nicoletta ; Chiarelli, Nicola ; Ritelli, Marco ; Colombi, Marina
Publisher:Switzerland: MDPI
Journal title:International journal of molecular sciences, 2018-03, Vol.19 (4), p.982
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Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives

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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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Molecular insights in the pathogenesis of classical Ehlers-Danlos syndrome from transcriptome-wide expression profiling of patients' skin fibroblasts

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Cellular and Molecular Mechanisms in the Pathogenesis of Classical, Vascular, and Hypermobile Ehlers‒Danlos Syndromes

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Transcriptome-Wide Expression Profiling in Skin Fibroblasts of Patients with Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type

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Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome

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Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes

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Expanding the Clinical and Mutational Spectrum of Recessive AEBP1 -Related Classical-Like Ehlers-Danlos Syndrome

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Matrix Metalloproteinases Inhibition by Doxycycline Rescues Extracellular Matrix Organization and Partly Reverts Myofibroblast Differentiation in Hypermobile Ehlers-Danlos Syndrome Dermal Fibroblasts:...

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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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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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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 Extracellu...

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Integrative Multi-Omics Approach in Vascular Ehlers-Danlos Syndrome: Further Insights into the Disease Mechanisms by Proteomic Analysis of Patient Dermal Fibroblasts

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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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Complications of Acute Stroke and the Occurrence of Early Seizures

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Molecular Genetics and Pathogenesis of Ehlers-Danlos Syndrome and Related Connective Tissue Disorders

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Arterial tortuosity syndrome in two Italian paediatric patients

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Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients

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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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Multifaced Roles of the αvβ3 Integrin in Ehlers-Danlos and Arterial Tortuosity Syndromes' Dermal Fibroblasts

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