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

Por Castori, Marco
Publicado em 2012

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

Por Castori, Marco, C. Voermans, Nicol
Publicado no Iran J Neurol (2014)

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

Por Wiesmann, Thomas, Castori, Marco, Malfait, Fransiska, Wulf, Hinnerk
Publicado no Orphanet J Rare Dis (2014)

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

Por Celletti, Claudia, Castori, Marco, La Torre, Giuseppe, Camerota, Filippo
Publicado em 2013

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

Por Gucev, Zoran, Castori, Marco, Tasic, Velibor, Popjordanova, Nada, Hasani, Arijeta
Publicado em 2010

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

Por Serra, Valeria, Castori, Marco, Paradisi, Mauro, Bui, Laura, Melino, Gerry, Terrinoni, Alessandro
Publicado em 2011

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

Por Papoff, Paola, Castori, Marco, Manganaro, Lucia, Midulla, Fabio, Moretti, Corrado, Cascone, Piero
Publicado no J Maxillofac Oral Surg (2015)

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

Por Celletti, Claudia, Camerota, Filippo, Castori, Marco, Censi, Federica, Gioffrè, Laura, Calcagnini, Giovanni, Strano, Stefano
Publicado no Biomed Res Int (2017)

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

Por Chiarelli, Nicola, Carini, Giulia, Zoppi, Nicoletta, Dordoni, Chiara, Ritelli, Marco, Venturini, Marina, Castori, Marco, Colombi, Marina
Publicado no PLoS One (2016)

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

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

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

Por Cazzato, Daniele, Castori, Marco, Lombardi, Raffaella, Caravello, Francesca, Bella, Eleonora Dalla, Petrucci, Antonio, Grammatico, Paola, Dordoni, Chiara, Colombi, Marina, Lauria, Giuseppe
Publicado no Neurology (2016)

Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A h...

Por Bottillo, Irene, Castori, Marco, De Bernardo, Carmelilia, Fabbri, Romano, Grammatico, Barbara, Preziosi, Nicoletta, Scassellati, Giovanna Sforzolini, Silvestri, Evelina, Spagnuolo, Antonella, Laino, Luigi, Grammatico, Paola
Publicado em 2013

Prediction and visualization data for the interpretation of sarcomeric and non-sarcomeric DNA variants found in patients with hypertrophic cardiomyopathy

Por Bottillo, Irene, D’Angelantonio, Daniela, Caputo, Viviana, Paiardini, Alessandro, Lipari, Martina, De Bernardo, Carmelilia, Majore, Silvia, Castori, Marco, Zachara, Elisabetta, Re, Federica, Grammatico, Paola
Publicado no Data Brief (2016)

Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception

Por Chiabrando, Deborah, Castori, Marco, di Rocco, Maja, Ungelenk, Martin, Gießelmann, Sebastian, Di Capua, Matteo, Madeo, Annalisa, Grammatico, Paola, Bartsch, Sophie, Hübner, Christian A., Altruda, Fiorella, Silengo, Lorenzo, Tolosano, Emanuela, Kurth, Ingo
Publicado no PLoS Genet (2016)