Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives
Ritelli, Marco, Venturini, Marina, Cinquina, Valeria, Chiarelli, Nicola, Colombi, Marina
Published in Orphanet journal of rare diseases (31.07.2020)
Published in Orphanet journal of rare diseases (31.07.2020)
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Journal Article
Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome
Ritelli, Marco, Dordoni, Chiara, Cinquina, Valeria, Venturini, Marina, Calzavara-Pinton, Piergiacomo, Colombi, Marina
Published in Orphanet journal of rare diseases (07.09.2017)
Published in Orphanet journal of rare diseases (07.09.2017)
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Journal Article
Expanding the Clinical and Mutational Spectrum of Recessive AEBP1 -Related Classical-Like Ehlers-Danlos Syndrome
Ritelli, Marco, Cinquina, Valeria, Venturini, Marina, Pezzaioli, Letizia, Formenti, Anna Maria, Chiarelli, Nicola, Colombi, Marina
Published in Genes (12.02.2019)
Published in Genes (12.02.2019)
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Journal Article
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
Ritelli, Marco, Cinquina, Valeria, Venturini, Marina, Colombi, Marina
Published in Molecular genetics & genomic medicine (01.10.2020)
Published in Molecular genetics & genomic medicine (01.10.2020)
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Journal Article
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
Ritelli, Marco, Chiarelli, Nicola, Cinquina, Valeria, Zoppi, Nicoletta, Bertini, Valeria, Venturini, Marina, Colombi, Marina
Published in Cells (Basel, Switzerland) (01.12.2022)
Published in Cells (Basel, Switzerland) (01.12.2022)
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Journal Article
Expanding the PURA syndrome phenotype: A child with the recurrent PURA p.(Phe233del) pathogenic variant showing similarities with cutis laxa
Cinquina, Valeria, Ciaccio, Claudia, Venturini, Marina, Masson, Riccardo, Ritelli, Marco, Colombi, Marina
Published in Molecular genetics & genomic medicine (01.01.2021)
Published in Molecular genetics & genomic medicine (01.01.2021)
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Journal Article
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
Ritelli, Marco, Cammarata‐Scalisi, Francisco, Cinquina, Valeria, Colombi, Marina
Published in Molecular genetics & genomic medicine (01.07.2019)
Published in Molecular genetics & genomic medicine (01.07.2019)
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Journal Article
Characterization of a Pseudoxanthoma elasticum-like patient with coagulation deficiency, cutaneous calcinosis and GGCX compound heterozygosity
Dordoni, Chiara, Gatti, Marta, Venturini, Marina, Zanca, Arianna, Cinquina, Valeria, Santoro, Graziano, Battocchio, Simonetta, Calzavara-Pinton, Piergiacomo, Ritelli, Marco, Colombi, Marina
Published in Journal of dermatological science (01.02.2018)
Published in Journal of dermatological science (01.02.2018)
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Journal Article
Deciphering disease signatures and molecular targets in vascular Ehlers-Danlos syndrome through transcriptome and miRNome sequencing of dermal fibroblasts
Chiarelli, Nicola, Cinquina, Valeria, Martini, Paolo, Bertini, Valeria, Zoppi, Nicoletta, Venturini, Marina, Ritelli, Marco, Colombi, Marina
Published in Biochimica et biophysica acta. Molecular basis of disease (01.01.2024)
Published in Biochimica et biophysica acta. Molecular basis of disease (01.01.2024)
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Journal Article
Looking back and beyond the 2017 diagnostic criteria for hypermobile Ehlers‐Danlos syndrome: A retrospective cross‐sectional study from an Italian reference center
Ritelli, Marco, Chiarelli, Nicola, Cinquina, Valeria, Vezzoli, Marika, Venturini, Marina, Colombi, Marina
Published in American journal of medical genetics. Part A (01.02.2024)
Published in American journal of medical genetics. Part A (01.02.2024)
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Journal Article
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
Zoppi, Nicoletta, Chiarelli, Nicola, Cinquina, Valeria, Ritelli, Marco, Colombi, Marina
Published in Human molecular genetics (01.12.2015)
Published in Human molecular genetics (01.12.2015)
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Journal Article
Application of the 2017 criteria for vascular Ehlers‐Danlos syndrome in 50 patients ascertained according to the Villefranche nosology
Ritelli, Marco, Rovati, Chiara, Venturini, Marina, Chiarelli, Nicola, Cinquina, Valeria, Castori, Marco, Colombi, Marina
Published in Clinical genetics (01.02.2020)
Published in Clinical genetics (01.02.2020)
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Journal Article
Genome-first approach for the characterization of a complex phenotype with combined NBAS and CUL4B deficiency
Ritelli, Marco, Palagano, Eleonora, Cinquina, Valeria, Beccagutti, Federica, Chiarelli, Nicola, Strina, Dario, Hall, Ignacio Fernando, Villa, Anna, Sobacchi, Cristina, Colombi, Marina
Published in Bone (New York, N.Y.) (01.11.2020)
Published in Bone (New York, N.Y.) (01.11.2020)
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Journal Article
A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder
Morlino, Silvia, Castori, Marco, Dordoni, Chiara, Cinquina, Valeria, Santoro, Graziano, Grammatico, Paola, Venturini, Marina, Colombi, Marina, Ritelli, Marco
Published in European journal of human genetics : EJHG (01.04.2018)
Published in European journal of human genetics : EJHG (01.04.2018)
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Journal Article
Bridging the Diagnostic Gap for Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders: Evidence of a Common Extracellular Matrix Fragmentation Pattern in Patient Plasma as a Potential Biomarker
Ritelli, Marco, Chiarelli, Nicola, Cinquina, Valeria, Bertini, Valeria, Piantoni, Silvia, Caproli, Alessia, Della Pinna, Silvia Ebe Lucia, Franceschini, Franco, Zarattini, Guido, Gandy, Woodrow, Venturini, Marina, Zoppi, Nicoletta, Colombi, Marina
Published in American journal of medical genetics. Part A (03.09.2024)
Published in American journal of medical genetics. Part A (03.09.2024)
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Journal Article
GLUT10 deficiency leads to oxidative stress and non-canonical alpha v beta 3 integrin-mediated TGF beta signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts
Zoppi, Nicoletta, Chiarelli, Nicola, Cinquina, Valeria, Ritelli, Marco, Colombi, Marina
Published in Human molecular genetics (01.12.2015)
Published in Human molecular genetics (01.12.2015)
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Journal Article
Phacomatosis pigmentovascularis spilorosea and mutation in the PTPN11 gene: new case with significant neurologic impairment
Maione, Vincenzo, Soglia, Simone, Miccio, Laura, Calzavara‐Pinton, Piergiacomo, Napolitano, Angela, Cinquina, Valeria, Ritelli, Marco, Colombi, Marina
Published in Journal der Deutschen Dermatologischen Gesellschaft (01.08.2022)
Published in Journal der Deutschen Dermatologischen Gesellschaft (01.08.2022)
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Journal Article