The Immunomodulatory Effect and Clinical Efficacy of Daratumumab in a Patient With Cold Agglutinin Disease

od Zaninoni, Anna, Giannotta, Juri A., Gallì, Anna, Artuso, Rosangela, Bianchi, Paola, Malcovati, Luca, Barcellini, Wilma, Fattizzo, Bruno
Wydane w Front Immunol (2021)

Transient Neonatal Diabetes Mellitus in a Very Preterm Infant due to ABCC8 Mutation

od Barbara Piccini, Caterina Coviello, Livia Drovandi, Artuso Rosangela, Francesca Monzali, Emilio Casalini, Sabrina Giglio, Sonia Toni, Carlo Dani
Wydane 2018-01-01

Advances in Alport syndrome diagnosis using next-generation sequencing

od Artuso, Rosangela, Fallerini, Chiara, Dosa, Laura, Scionti, Francesca, Clementi, Maurizio, Garosi, Guido, Massella, Laura, Epistolato, Maria Carmela, Mancini, Roberta, Mari, Francesca, Longo, Ilaria, Ariani, Francesca, Renieri, Alessandra, Bruttini, Mirella
Wydane 2012

Aberrant sialylation in a patient with a HNF1α variant and liver adenomatosis

od Sturiale, Luisa, Nassogne, Marie-Cécile, Palmigiano, Angelo, Messina, Angela, Speciale, Immacolata, Artuso, Rosangela, Bertino, Gaetano, Revencu, Nicole, Stephénne, Xavier, De Castro, Cristina, Matthijs, Gert, Barone, Rita, Jaeken, Jaak, Garozzo, Domenico
Wydane w iScience (2021)

Mutations in FN1 cause glomerulopathy with fibronectin deposits

od Castelletti, Federica, Donadelli, Roberta, Banterla, Federica, Hildebrandt, Friedhelm, Zipfel, Peter F., Bresin, Elena, Otto, Edgar, Skerka, Christine, Renieri, Alessandra, Todeschini, Marta, Caprioli, Jessica, Caruso, Rosa Maria, Artuso, Rosangela, Remuzzi, Giuseppe, Noris, Marina
Wydane 2008

FOXG1 Is Responsible for the Congenital Variant of Rett Syndrome

od Ariani, Francesca, Hayek, Giuseppe, Rondinella, Dalila, Artuso, Rosangela, Mencarelli, Maria Antonietta, Spanhol-Rosseto, Ariele, Pollazzon, Marzia, Buoni, Sabrina, Spiga, Ottavia, Ricciardi, Sara, Meloni, Ilaria, Longo, Ilaria, Mari, Francesca, Broccoli, Vania, Zappella, Michele, Renieri, Alessandra
Wydane 2008

Investigation of modifier genes within copy number variations in Rett syndrome

od Artuso, Rosangela, Papa, Filomena Tiziana, Grillo, Elisa, Mucciolo, Mafalda, Yasui, Dag H., Dunaway, Keith W., Disciglio, Vittoria, Mencarelli, Maria Antonietta, Pollazzon, Marzia, Zappella, Michele, Hayek, Giuseppe, Mari, Francesca, Renieri, Alessandra, LaSalle, Janine M., Ariani, Francesca
Wydane 2011

Reverse Phenotyping after Whole-Exome Sequencing in Steroid-Resistant Nephrotic Syndrome

od Landini, Samuela, Mazzinghi, Benedetta, Becherucci, Francesca, Allinovi, Marco, Provenzano, Aldesia, Palazzo, Viviana, Ravaglia, Fiammetta, Artuso, Rosangela, Bosi, Emanuele, Stagi, Stefano, Sansavini, Giulia, Guzzi, Francesco, Cirillo, Luigi, Vaglio, Augusto, Murer, Luisa, Peruzzi, Licia, Pasini, Andrea, Materassi, Marco, Roperto, Rosa Maria, Anders, Hans-Joachim, Rotondi, Mario, Giglio, Sabrina Rita, Romagnani, Paola
Wydane w Clin J Am Soc Nephrol (2020)

Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes

od Provenzano, Aldesia, La Barbera, Andrea, Scagnet, Mirko, Pagliazzi, Angelica, Traficante, Giovanna, Pantaleo, Marilena, Tiberi, Lucia, Vergani, Debora, Kurtas, Nehir Edibe, Guarducci, Silvia, Bargiacchi, Sara, Forzano, Giulia, Artuso, Rosangela, Palazzo, Viviana, Kura, Ada, Giordano, Flavio, di Feo, Daniele, Mortilla, Marzia, De Filippi, Claudio, Mattei, Gianluca, Garavelli, Livia, Giusti, Betti, Genitori, Lorenzo, Zuffardi, Orsetta, Giglio, Sabrina
Wydane w Hum Genet (2020)

Disruption of the Podosome Adaptor Protein TKS4 (SH3PXD2B) Causes the Skeletal Dysplasia, Eye, and Cardiac Abnormalities of Frank-Ter Haar Syndrome

od Iqbal, Zafar, Cejudo-Martin, Pilar, de Brouwer, Arjan, van der Zwaag, Bert, Ruiz-Lozano, Pilar, Scimia, M. Cecilia, Lindsey, James D., Weinreb, Robert, Albrecht, Beate, Megarbane, Andre, Alanay, Yasemin, Ben-Neriah, Ziva, Amenduni, Mariangela, Artuso, Rosangela, Veltman, Joris A., van Beusekom, Ellen, Oudakker, Astrid, Millán, José Luis, Hennekam, Raoul, Hamel, Ben, Courtneidge, Sara A., van Bokhoven, Hans
Wydane 2010

High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome

od Parri, Veronica, Katzaki, Eleni, Uliana, Vera, Scionti, Francesca, Tita, Rossella, Artuso, Rosangela, Longo, Ilaria, Boschloo, Renske, Vijzelaar, Raymon, Selicorni, Angelo, Brancati, Francesco, Dallapiccola, Bruno, Zelante, Leopoldo, Hamel, Christian P, Sarda, Pierre, Lalani, Seema R, Grasso, Rita, Buoni, Sabrina, Hayek, Joussef, Servais, Laurent, de Vries, Bert B A, Georgoudi, Nelly, Nakou, Sheena, Petersen, Michael B, Mari, Francesca, Renieri, Alessandra, Ariani, Francesca
Wydane 2010