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...

por Ritelli, Marco, Cinquina, Valeria, Venturini, Marina, Colombi, Marina
Publicado 2020

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

por Ritelli, Marco, Cammarata‐Scalisi, Francisco, Cinquina, Valeria, Colombi, Marina
Publicado 2019

GLUT10 deficiency leads to oxidative stress and non-canonical αvβ3 integrin-mediated TGFβ signalling associated with extracellular matrix disarray in arterial tortuosity syndrome s...

por Zoppi, Nicoletta, Chiarelli, Nicola, Cinquina, Valeria, Ritelli, Marco, Colombi, Marina
Publicado 2015

Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives

por Ritelli, Marco, Venturini, Marina, Cinquina, Valeria, Chiarelli, Nicola, Colombi, Marina
Publicado 2020

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

por Ritelli, Marco, Cinquina, Valeria, Giacopuzzi, Edoardo, Venturini, Marina, Chiarelli, Nicola, Colombi, Marina
Publicado 2019

Expanding the PURA syndrome phenotype: A child with the recurrent PURA p.(Phe233del) pathogenic variant showing similarities with cutis laxa

por Cinquina, Valeria, Ciaccio, Claudia, Venturini, Marina, Masson, Riccardo, Ritelli, Marco, Colombi, Marina
Publicado 2020

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

por Ritelli, Marco, Dordoni, Chiara, Cinquina, Valeria, Venturini, Marina, Calzavara-Pinton, Piergiacomo, Colombi, Marina
Publicado 2017

Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel TNXB Variant

por Rymen, Daisy, Ritelli, Marco, Zoppi, Nicoletta, Cinquina, Valeria, Giunta, Cecilia, Rohrbach, Marianne, Colombi, Marina
Publicado 2019

RNA-Seq of Dermal Fibroblasts from Patients with Hypermobile Ehlers–Danlos Syndrome and Hypermobility Spectrum Disorders Supports Their Categorization as a Single Entity with Invol...

por Ritelli, Marco, Chiarelli, Nicola, Cinquina, Valeria, Zoppi, Nicoletta, Bertini, Valeria, Venturini, Marina, Colombi, Marina
Publicado 2022

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

por Ritelli, Marco, Cinquina, Valeria, Venturini, Marina, Pezzaioli, Letizia, Formenti, Anna Maria, Chiarelli, Nicola, Colombi, Marina
Publicado 2019

Genotypic Categorization of Loeys-Dietz Syndrome Based on 24 Novel Families and Literature Data

por Camerota, Letizia, Ritelli, Marco, Wischmeijer, Anita, Majore, Silvia, Cinquina, Valeria, Fortugno, Paola, Monetta, Rosanna, Gigante, Laura, Sangiuolo, Federica Carla, Novelli, Giuseppe, Colombi, Marina, Brancati, Francesco
Publicado 2019