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

по Zaninoni, Anna, Giannotta, Juri A., Gallì, Anna, Artuso, Rosangela, Bianchi, Paola, Malcovati, Luca, Barcellini, Wilma, Fattizzo, Bruno
Опубликовано в: Front Immunol (2021)

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

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

Advances in Alport syndrome diagnosis using next-generation sequencing

по 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
Опубликовано 2012

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

по 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
Опубликовано в: iScience (2021)

Mutations in FN1 cause glomerulopathy with fibronectin deposits

по 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
Опубликовано 2008

FOXG1 Is Responsible for the Congenital Variant of Rett Syndrome

по 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
Опубликовано 2008

Investigation of modifier genes within copy number variations in Rett syndrome

по 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
Опубликовано 2011

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

по 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
Опубликовано в: 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

по 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
Опубликовано в: Hum Genet (2020)

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

по 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
Опубликовано 2010

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

по 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
Опубликовано 2010