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

بواسطة Zaninoni, Anna, Giannotta, Juri A., Gallì, Anna, Artuso, Rosangela, Bianchi, Paola, Malcovati, Luca, Barcellini, Wilma, Fattizzo, Bruno
الحاوية / القاعدة Front Immunol (2021)

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

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

Advances in Alport syndrome diagnosis using next-generation sequencing

بواسطة 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
منشور في 2012

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

بواسطة 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
الحاوية / القاعدة iScience (2021)

Mutations in FN1 cause glomerulopathy with fibronectin deposits

بواسطة 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
منشور في 2008

FOXG1 Is Responsible for the Congenital Variant of Rett Syndrome

بواسطة 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
منشور في 2008

Investigation of modifier genes within copy number variations in Rett syndrome

بواسطة 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
منشور في 2011

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

بواسطة 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
الحاوية / القاعدة 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

بواسطة 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
الحاوية / القاعدة Hum Genet (2020)

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

بواسطة 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
منشور في 2010

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

بواسطة 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
منشور في 2010