The angiogenic asset of soft tissue sarcomas: a new tool to discover new therapeutic targets

por Rocchi, Laura, Caraffi, Stefano, Perris, Roberto, Mangieri, Domenica
Publicado 2014

MMPs and angiogenesis affect the metastatic potential of a human vulvar leiomyosarcoma cell line

por Alias, Carlotta, Rocchi, Laura, Ribatti, Domenico, Caraffi, Stefano, D’Angelo, Alessandra, Perris, Roberto, Mangieri, Domenica
Publicado 2015

Biomarkers of cancer angioprevention for clinical studies

por Albini, Adriana, Bertolini, Francesco, Bassani, Barbara, Bruno, Antonino, Gallo, Cristina, Caraffi, Stefano Giuseppe, Maramotti, Sally, Noonan, Douglas M
Publicado 2015

MCPH1: A Novel Case Report and a Review of the Literature

por Caraffi, Stefano Giuseppe, Pollazzon, Marzia, Farooq, Muhammad, Fatima, Ambrin, Larsen, Lars Allan, Zuntini, Roberta, Napoli, Manuela, Garavelli, Livia
Publicado 2022

Abnormalities of Thymic Stroma may Contribute to Immune Dysregulation in Murine Models of Leaky Severe Combined Immunodeficiency

por Rucci, Francesca, Poliani, Pietro Luigi, Caraffi, Stefano, Paganini, Tiziana, Fontana, Elena, Giliani, Silvia, Alt, Frederick W., Notarangelo, Luigi Daniele
Publicado 2011

Clinical Manifestations in a Girl with NAA10-Related Syndrome and Genotype–Phenotype Correlation in Females

por Maini, Ilenia, Caraffi, Stefano G., Peluso, Francesca, Valeri, Lara, Nicoli, Davide, Laurie, Steven, Baldo, Chiara, Zuffardi, Orsetta, Garavelli, Livia
Publicado 2021

Mutations of the Igβ gene cause agammaglobulinemia in man

por Ferrari, Simona, Lougaris, Vassilios, Caraffi, Stefano, Zuntini, Roberta, Yang, Jianying, Soresina, Annarosa, Meini, Antonella, Cazzola, Giantonio, Rossi, Cesare, Reth, Michael, Plebani, Alessandro
Publicado 2007

Diprosopus: A Rare Case of Craniofacial Duplication and a Systematic Review of the Literature

por Trevisani, Viola, Balestri, Eleonora, Napoli, Manuela, Caraffi, Stefano Giuseppe, Baroni, Maria Chiara, Peluso, Francesca, Colonna, Anna, Iughetti, Lorenzo, Gargano, Giancarlo, Superti-Furga, Andrea, Garavelli, Livia
Publicado 2023

A monoallelic SEC23A variant E599K associated with cranio‐lenticulo‐sutural dysplasia

por Cisarova, Katarina, Garavelli, Livia, Caraffi, Stefano Giuseppe, Peluso, Francesca, Valeri, Lara, Gargano, Giancarlo, Gavioli, Sara, Trimarchi, Gabriele, Neri, Alberto, Campos‐Xavier, Belinda, Superti‐Furga, Andrea
Publicado 2021

The fate of orally administered sialic acid: First insights from patients with N-acetylneuraminic acid synthase deficiency and control subjects

por Tran, Christel, Turolla, Licia, Ballhausen, Diana, Buros, Sandrine Cornaz, Teav, Tony, Gallart-Ayala, Hector, Ivanisevic, Julijana, Faouzi, Mohamed, Lefeber, Dirk J., Ivanovski, Ivan, Giangiobbe, Sara, Caraffi, Stefano Giuseppe, Garavelli, Livia, Superti-Furga, Andrea
Publicado 2021

Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6

por Caraffi, Stefano Giuseppe, Maini, Ilenia, Ivanovski, Ivan, Pollazzon, Marzia, Giangiobbe, Sara, Valli, Maurizia, Rossi, Antonio, Sassi, Silvia, Faccioli, Silvia, Di Rocco, Maja, Magnani, Cinzia, Campos-Xavier, Belinda, Unger, Sheila, Superti-Furga, Andrea, Garavelli, Livia
Publicado 2019

Case report: Expanding the phenotype of FOXP1-related intellectual disability syndrome and hyperkinetic movement disorder in differential diagnosis with epileptic seizures

por Cesaroni, Carlo Alberto, Pollazzon, Marzia, Mancini, Cecilia, Rizzi, Susanna, Cappelletti, Camilla, Pizzi, Simone, Frattini, Daniele, Spagnoli, Carlotta, Caraffi, Stefano Giuseppe, Zuntini, Roberta, Trimarchi, Gabriele, Niceta, Marcello, Radio, Francesca Clementina, Tartaglia, Marco, Garavelli, Livia, Fusco, Carlo
Publicado 2023

Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White–Sutton Syndrome: Case Report and Review of the Literature

por Trimarchi, Gabriele, Caraffi, Stefano Giuseppe, Radio, Francesca Clementina, Barresi, Sabina, Contrò, Gianluca, Pizzi, Simone, Maini, Ilenia, Pollazzon, Marzia, Fusco, Carlo, Sassi, Silvia, Nicoli, Davide, Napoli, Manuela, Pascarella, Rosario, Gargano, Giancarlo, Zuffardi, Orsetta, Tartaglia, Marco, Garavelli, Livia
Publicado 2021

Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features

por Rosato, Simonetta, Unger, Sheila, Campos-Xavier, Belinda, Caraffi, Stefano Giuseppe, Beltrami, Laura, Pollazzon, Marzia, Ivanovski, Ivan, Castori, Marco, Bonasoni, Maria Paola, Comitini, Giuseppina, Nikkels, Peter G. J., Lindstrom, Kristin, Umandap, Christine, Superti-Furga, Andrea, Garavelli, Livia
Publicado 2022

Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the DLX5/6 Genes

por Ambrosetti, Irene, Bernardini, Laura, Pollazzon, Marzia, Giuffrida, Maria Grazia, Guida, Valentina, Peluso, Francesca, Baroni, Maria Chiara, Polizzi, Valeria, Napoli, Manuela, Rosato, Simonetta, Trimarchi, Gabriele, Gelmini, Chiara, Caraffi, Stefano Giuseppe, Wischmeijer, Anita, Frattini, Daniele, Novelli, Antonio, Garavelli, Livia
Publicado 2023

Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis

por Pollazzon, Marzia, Caraffi, Stefano Giuseppe, Faccioli, Silvia, Rosato, Simonetta, Fodstad, Heidi, Campos-Xavier, Belinda, Soncini, Emanuele, Comitini, Giuseppina, Frattini, Daniele, Grimaldi, Teresa, Marinelli, Maria, Martorana, Davide, Percesepe, Antonio, Sassi, Silvia, Fusco, Carlo, Gargano, Giancarlo, Superti-Furga, Andrea, Garavelli, Livia
Publicado 2021

Case Report: Sequential postzygotic HRAS mutation and gains of the paternal chromosome 11 carrying the mutated allele in a patient with epidermal nevus and rhabdomyosarcoma: eviden...

por Zuntini, Roberta, Cattani, Chiara, Pedace, Lucia, Miele, Evelina, Caraffi, Stefano Giuseppe, Gardini, Stefano, Ficarelli, Elena, Pizzi, Simone, Radio, Francesca Clementina, Barone, Angelica, Piana, Simonetta, Bertolini, Patrizia, Corradi, Domenico, Marinelli, Maria, Longo, Caterina, Motolese, Alberico, Zuffardi, Orsetta, Tartaglia, Marco, Garavelli, Livia
Publicado 2023

Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the CEP85L Gene: A Case Report and Refining of the Phenotypic Spectrum

por Contrò, Gianluca, Micalizzi, Alessia, Giangiobbe, Sara, Caraffi, Stefano Giuseppe, Zuntini, Roberta, Rosato, Simonetta, Pollazzon, Marzia, Terracciano, Alessandra, Napoli, Manuela, Rizzi, Susanna, Salerno, Grazia Gabriella, Radio, Francesca Clementina, Niceta, Marcello, Parrini, Elena, Fusco, Carlo, Gargano, Giancarlo, Guerrini, Renzo, Tartaglia, Marco, Novelli, Antonio, Zuffardi, Orsetta, Garavelli, Livia
Publicado 2021

Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples

por Peluso, Francesca, Caraffi, Stefano Giuseppe, Zuntini, Roberta, Trimarchi, Gabriele, Ivanovski, Ivan, Valeri, Lara, Barbieri, Veronica, Marinelli, Maria, Pancaldi, Alessia, Melli, Nives, Cesario, Claudia, Agolini, Emanuele, Cellini, Elena, Radio, Francesca Clementina, Crisafi, Antonella, Napoli, Manuela, Guerrini, Renzo, Tartaglia, Marco, Novelli, Antonio, Gargano, Giancarlo, Zuffardi, Orsetta, Garavelli, Livia
Publicado 2021

Prenatal Clinical Findings in RASA1-Related Capillary Malformation-Arteriovenous Malformation Syndrome

por Coccia, Emanuele, Valeri, Lara, Zuntini, Roberta, Caraffi, Stefano Giuseppe, Peluso, Francesca, Pagliai, Luca, Vezzani, Antonietta, Pietrangiolillo, Zaira, Leo, Francesco, Melli, Nives, Fiorini, Valentina, Greco, Andrea, Lepri, Francesca Romana, Pisaneschi, Elisa, Marozza, Annabella, Carli, Diana, Mussa, Alessandro, Radio, Francesca Clementina, Conti, Beatrice, Iascone, Maria, Gargano, Giancarlo, Novelli, Antonio, Tartaglia, Marco, Zuffardi, Orsetta, Bedeschi, Maria Francesca, Garavelli, Livia
Publicado 2023