Ehlers-Danlos Syndrome, Hypermobility Type: An Underdiagnosed Hereditary Connective Tissue Disorder with Mucocutaneous, Articular, and Systemic Manifestations

by Castori, Marco
Published 2012

Neurological manifestations of Ehlers-Danlos syndrome(s): A review

by Castori, Marco, C. Voermans, Nicol
Published in Iran J Neurol (2014)

Recommendations for anesthesia and perioperative management in patients with Ehlers-Danlos syndrome(s)

by Wiesmann, Thomas, Castori, Marco, Malfait, Fransiska, Wulf, Hinnerk
Published in Orphanet J Rare Dis (2014)

Evaluation of Kinesiophobia and Its Correlations with Pain and Fatigue in Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type

by Celletti, Claudia, Castori, Marco, La Torre, Giuseppe, Camerota, Filippo
Published 2013

A Patient with Unilateral Tibial Aplasia and Accessory Scrotum: A Pure Coincidence or Nonfortuitous Association?

by Gucev, Zoran, Castori, Marco, Tasic, Velibor, Popjordanova, Nada, Hasani, Arijeta
Published 2010

Functional Characterization of a Novel TP63 Mutation in a Family With Overlapping Features of Rapp-Hodgkin/AEC/ADULT Syndromes

by Serra, Valeria, Castori, Marco, Paradisi, Mauro, Bui, Laura, Melino, Gerry, Terrinoni, Alessandro
Published 2011

Early Mandibular Distraction to Relieve Robin Severe Airway Obstruction in Two Siblings with Lymphedema–Distichiasis Syndrome

by Papoff, Paola, Castori, Marco, Manganaro, Lucia, Midulla, Fabio, Moretti, Corrado, Cascone, Piero
Published in J Maxillofac Oral Surg (2015)

Characterization of Two Novel Intronic Variants Affecting Splicing in FBN1-Related Disorders

by Fusco, Carmela, Morlino, Silvia, Micale, Lucia, Ferraris, Alessandro, Grammatico, Paola, Castori, Marco
Published in Genes (Basel) (2019)

Genetic analysis of genes associated with epilepsy

by Guerri, Giulia, Castori, Marco, D’Agruma, Leonardo, Petracca, Antonio, Kurti, Danjela, Bertelli, Matteo
Published in Acta Biomed (2020)

Orthostatic Intolerance and Postural Orthostatic Tachycardia Syndrome in Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome, Hypermobility Type: Neurovegetative Dysregulation or A...

by Celletti, Claudia, Camerota, Filippo, Castori, Marco, Censi, Federica, Gioffrè, Laura, Calcagnini, Giovanni, Strano, Stefano
Published in Biomed Res Int (2017)

A Private 16q24.2q24.3 Microduplication in a Boy with Intellectual Disability, Speech Delay and Mild Dysmorphic Features

by Palumbo, Orazio, Palumbo, Pietro, Di Muro, Ester, Cinque, Luigia, Petracca, Antonio, Carella, Massimo, Castori, Marco
Published in Genes (Basel) (2020)

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

by Chiarelli, Nicola, Carini, Giulia, Zoppi, Nicoletta, Dordoni, Chiara, Ritelli, Marco, Venturini, Marina, Castori, Marco, Colombi, Marina
Published in PLoS One (2016)

A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder

by Morlino, Silvia, Castori, Marco, Dordoni, Chiara, Cinquina, Valeria, Santoro, Graziano, Grammatico, Paola, Venturini, Marina, Colombi, Marina, Ritelli, Marco
Published in Eur J Hum Genet (2018)

Novel Pathogenic Variants of the AIRE Gene in Two Autoimmune Polyendocrine Syndrome Type I Cases with Atypical Presentation: Role of the NGS in Diagnostic Pathway and Review of the...

by Cinque, Luigia, Angeletti, Cristina, Orrico, Alfredo, Castellana, Stefano, Ferrito, Lucia, Ciuoli, Cristina, Mazza, Tommaso, Castori, Marco, Guarnieri, Vito
Published in Biomedicines (2020)

A 22-Week-Old Fetus with Nager Syndrome and Congenital Diaphragmatic Hernia due to a Novel SF3B4 Mutation

by Castori, Marco, Bottillo, Irene, D'Angelantonio, Daniela, Morlino, Silvia, De Bernardo, Carmelilia, Scassellati Sforzolini, Giovanna, Silvestri, Evelina, Grammatico, Paola
Published 2014

The splice c.1815G>A variant in KIAA0586 results in a phenotype bridging short-rib-polydactyly and oral-facial-digital syndrome: A case report and literature review

by Cocciadiferro, Dario, Agolini, Emanuele, Digilio, Maria Cristina, Sinibaldi, Lorenzo, Castori, Marco, Silvestri, Evelina, Dotta, Andrea, Dallapiccola, Bruno, Novelli, Antonio
Published in Medicine (Baltimore) (2020)

Compound Phenotype Due to Recessive Variants in LARP7 and OTOG Genes Disclosed by an Integrated Approach of SNP-Array and Whole Exome Sequencing

by Palumbo, Pietro, Palumbo, Orazio, Leone, Maria Pia, di Muro, Ester, Castellana, Stefano, Bisceglia, Luigi, Mazza, Tommaso, Carella, Massimo, Castori, Marco
Published in Genes (Basel) (2020)

Small fiber neuropathy is a common feature of Ehlers-Danlos syndromes

by Cazzato, Daniele, Castori, Marco, Lombardi, Raffaella, Caravello, Francesca, Bella, Eleonora Dalla, Petrucci, Antonio, Grammatico, Paola, Dordoni, Chiara, Colombi, Marina, Lauria, Giuseppe
Published in Neurology (2016)

Novel TNXB Variants in Two Italian Patients with Classical-Like Ehlers-Danlos Syndrome

by Micale, Lucia, Guarnieri, Vito, Augello, Bartolomeo, Palumbo, Orazio, Agolini, Emanuele, Sofia, Valentina Maria, Mazza, Tommaso, Novelli, Antonio, Carella, Massimo, Castori, Marco
Published in Genes (Basel) (2019)

A novel dominant-negative FGFR1 variant causes Hartsfield syndrome by deregulating RAS/ERK1/2 pathway

by Palumbo, Pietro, Petracca, Antonio, Maggi, Roberto, Biagini, Tommaso, Nardella, Grazia, Sacco, Michele Carmine, Di Schiavi, Elia, Carella, Massimo, Micale, Lucia, Castori, Marco
Published in Eur J Hum Genet (2019)