Prognostic Value of Glomerular Collagen IV Immunofluorescence Studies in Male Patients with X-Linked Alport Syndrome

著者: Massella, Laura, Gangemi, Concetta, Giannakakis, Kostas, Crisafi, Antonella, Faraggiana, Tullio, Fallerini, Chiara, Renieri, Alessandra, Muda, Andrea Onetti, Emma, Francesco
出版事項 2013

Potentially Treatable Disorder Diagnosed Post Mortem by Exome Analysis in a Boy with Respiratory Distress

著者: Imperatore, Valentina, Mencarelli, Maria Antonietta, Fallerini, Chiara, Bianciardi, Laura, Ariani, Francesca, Furini, Simone, Renieri, Alessandra, Mari, Francesca, Frullanti, Elisa
出版年 Int J Mol Sci (2016)

X-Linked Alport Syndrome in Women: Genotype and Clinical Course in 24 Cases

著者: Mastrangelo, Antonio, Giani, Marisa, Groppali, Elena, Castorina, Pierangela, Soldà, Giulia, Robusto, Michela, Fallerini, Chiara, Bruttini, Mirella, Renieri, Alessandra, Montini, Giovanni
出版年 Front Med (Lausanne) (2020)

Protective Role of a TMPRSS2 Variant on Severe COVID-19 Outcome in Young Males and Elderly Women

著者: Monticelli, Maria, Hay Mele, Bruno, Benetti, Elisa, Fallerini, Chiara, Baldassarri, Margherita, Furini, Simone, Frullanti, Elisa, Mari, Francesca, Andreotti, Giuseppina, Cubellis, Maria Vittoria, Renieri, Alessandra
出版年 Genes (Basel) (2021)

RB1 Germline Variant Predisposing to a Rare Ovarian Germ Cell Tumor: A Case Report

著者: Gelli, Elisa, Fallerini, Chiara, Valentino, Floriana, Giliberti, Annarita, Castiglione, Francesca, Laschi, Lucrezia, Palmieri, Maria, Fabbiani, Alessandra, Tita, Rossella, Mencarelli, Maria Antonietta, Renieri, Alessandra, Ariani, Francesca
出版年 Front Oncol (2020)

Omic Approach in Non-smoker Female with Lung Squamous Cell Carcinoma Pinpoints to Germline Susceptibility and Personalized Medicine

著者: Baldassarri, Margherita, Fallerini, Chiara, Cetta, Francesco, Ghisalberti, Marco, Bellan, Cristiana, Furini, Simone, Spiga, Ottavia, Crispino, Sergio, Gotti, Giuseppe, Ariani, Francesca, Paladini, Piero, Renieri, Alessandra, Frullanti, Elisa
出版年 Cancer Res Treat (2018)

Advances in Alport syndrome diagnosis using next-generation sequencing

著者: 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
出版事項 2012

Clonality Analysis of Immunoglobulin Gene Rearrangement by Next-Generation Sequencing in Endemic Burkitt Lymphoma Suggests Antigen Drive Activation of BCR as Opposed to Sporadic Bu...

著者: Amato, Teresa, Abate, Francesco, Piccaluga, Pierpaolo, Iacono, Michele, Fallerini, Chiara, Renieri, Alessandra, De Falco, Giulia, Ambrosio, Maria Raffaella, Mourmouras, Vaselious, Ogwang, Martin, Calbi, Valeria, Rabadan, Roul, Hummel, Michael, Pileri, Stefano, Leoncini, Lorenzo, Bellan, Cristiana
出版年 Am J Clin Pathol (2016)

Assessment of haptoglobin alleles in autism spectrum disorders

著者: Cupaioli, Francesca Anna, Mosca, Ettore, Magri, Chiara, Gennarelli, Massimo, Moscatelli, Marco, Raggi, Maria Elisabetta, Landini, Martina, Galluccio, Nadia, Villa, Laura, Bonfanti, Arianna, Renieri, Alessandra, Fallerini, Chiara, Minelli, Alessandra, Marabotti, Anna, Milanesi, Luciano, Fasano, Alessio, Mezzelani, Alessandra
出版年 Sci Rep (2020)

New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells

著者: Daga, Sergio, Donati, Francesco, Capitani, Katia, Croci, Susanna, Tita, Rossella, Giliberti, Annarita, Valentino, Floriana, Benetti, Elisa, Fallerini, Chiara, Niccheri, Francesca, Baldassarri, Margherita, Mencarelli, Maria Antonietta, Frullanti, Elisa, Furini, Simone, Conticello, Silvestro Giovanni, Renieri, Alessandra, Pinto, Anna Maria
出版年 Eur J Hum Genet (2019)

SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect

著者: McNeill, Alisdair, Iovino, Emanuela, Mansard, Luke, Vache, Christel, Baux, David, Bedoukian, Emma, Cox, Helen, Dean, John, Goudie, David, Kumar, Ajith, Newbury-Ecob, Ruth, Fallerini, Chiara, Renieri, Alessandra, Lopergolo, Diego, Mari, Francesca, Blanchet, Catherine, Willems, Marjolaine, Roux, Anne-Francoise, Pippucci, Tommaso, Delpire, Eric
出版年 Brain (2020)

Human CRY1 variants associate with attention deficit/hyperactivity disorder

著者: Onat, O. Emre, Kars, M. Ece, Gül, Şeref, Bilguvar, Kaya, Wu, Yiming, Özhan, Ayşe, Aydın, Cihan, Başak, A. Nazlı, Trusso, M. Allegra, Goracci, Arianna, Fallerini, Chiara, Renieri, Alessandra, Casanova, Jean-Laurent, Itan, Yuval, Atbaşoğlu, Cem E., Saka, Meram C., Kavaklı, İ. Halil, Özçelik, Tayfun
出版年 J Clin Invest (2020)

Clinical and molecular characterization of COVID-19 hospitalized patients

著者: Benetti, Elisa, Giliberti, Annarita, Emiliozzi, Arianna, Valentino, Floriana, Bergantini, Laura, Fallerini, Chiara, Anedda, Federico, Amitrano, Sara, Conticini, Edoardo, Tita, Rossella, d’Alessandro, Miriana, Fava, Francesca, Marcantonio, Simona, Baldassarri, Margherita, Bruttini, Mirella, Mazzei, Maria Antonietta, Montagnani, Francesca, Mandalà, Marco, Bargagli, Elena, Furini, Simone, Renieri, Alessandra, Mari, Francesca
出版年 PLoS One (2020)

Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations

著者: Valentino, Floriana, Bruno, Lucia Pia, Doddato, Gabriella, Giliberti, Annarita, Tita, Rossella, Resciniti, Sara, Fallerini, Chiara, Bruttini, Mirella, Lo Rizzo, Caterina, Mencarelli, Maria Antonietta, Mari, Francesca, Pinto, Anna Maria, Fava, Francesca, Baldassarri, Margherita, Fabbiani, Alessandra, Lamacchia, Vittoria, Benetti, Elisa, Zguro, Kristina, Furini, Simone, Renieri, Alessandra, Ariani, Francesca
出版年 Brain Sci (2021)

Association of Toll-like receptor 7 variants with life-threatening COVID-19 disease in males: findings from a nested case-control study

著者: Fallerini, Chiara, Daga, Sergio, Mantovani, Stefania, Benetti, Elisa, Picchiotti, Nicola, Francisci, Daniela, Paciosi, Francesco, Schiaroli, Elisabetta, Baldassarri, Margherita, Fava, Francesca, Palmieri, Maria, Ludovisi, Serena, Castelli, Francesco, Quiros-Roldan, Eugenia, Vaghi, Massimo, Rusconi, Stefano, Siano, Matteo, Bandini, Maria, Spiga, Ottavia, Capitani, Katia, Furini, Simone, Mari, Francesca, Renieri, Alessandra, Mondelli, Mario U, Frullanti, Elisa
出版年 eLife (2021)

Severe COVID-19 in Hospitalized Carriers of Single CFTR Pathogenic Variants

著者: Baldassarri, Margherita, Fava, Francesca, Fallerini, Chiara, Daga, Sergio, Benetti, Elisa, Zguro, Kristina, Amitrano, Sara, Valentino, Floriana, Doddato, Gabriella, Giliberti, Annarita, Di Sarno, Laura, Palmieri, Maria, Carriero, Miriam Lucia, Alaverdian, Diana, Beligni, Giada, Iuso, Nicola, Castelli, Francesco, Quiros-Roldan, Eugenia, Mondelli, Mario Umberto, Miceli, Rosalba, Frullanti, Elisa, Furini, Simone, Mari, Francesca, Renieri, Alessandra, Gabbi, Chiara
出版年 J Pers Med (2021)

Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research

著者: Daga, Sergio, Fallerini, Chiara, Baldassarri, Margherita, Fava, Francesca, Valentino, Floriana, Doddato, Gabriella, Benetti, Elisa, Furini, Simone, Giliberti, Annarita, Tita, Rossella, Amitrano, Sara, Bruttini, Mirella, Meloni, Ilaria, Pinto, Anna Maria, Raimondi, Francesco, Stella, Alessandra, Biscarini, Filippo, Picchiotti, Nicola, Gori, Marco, Pinoli, Pietro, Ceri, Stefano, Sanarico, Maurizio, Crawley, Francis P., Birolo, Giovanni, Renieri, Alessandra, Mari, Francesca, Frullanti, Elisa
出版年 Eur J Hum Genet (2021)

Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes

著者: Doddato, Gabriella, Valentino, Floriana, Giliberti, Annarita, Papa, Filomena Tiziana, Tita, Rossella, Bruno, Lucia Pia, Resciniti, Sara, Fallerini, Chiara, Benetti, Elisa, Palmieri, Maria, Mencarelli, Maria Antonietta, Fabbiani, Alessandra, Bruttini, Mirella, Orrico, Alfredo, Baldassarri, Margherita, Fava, Francesca, Lopergolo, Diego, Lo Rizzo, Caterina, Lamacchia, Vittoria, Mannucci, Sara, Pinto, Anna Maria, Currò, Aurora, Mancini, Virginia, Mari, Francesca, Renieri, Alessandra, Ariani, Francesca
出版年 Front Oncol (2021)

Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males

著者: Baldassarri, Margherita, Picchiotti, Nicola, Fava, Francesca, Fallerini, Chiara, Benetti, Elisa, Daga, Sergio, Valentino, Floriana, Doddato, Gabriella, Furini, Simone, Giliberti, Annarita, Tita, Rossella, Amitrano, Sara, Bruttini, Mirella, Croci, Susanna, Meloni, Ilaria, Pinto, Anna Maria, Iuso, Nicola, Gabbi, Chiara, Sciarra, Francesca, Venneri, Mary Anna, Gori, Marco, Sanarico, Maurizio, Crawley, Francis P., Pagotto, Uberto, Fanelli, Flaminia, Mezzullo, Marco, Dominguez-Garrido, Elena, Planas-Serra, Laura, Schlüter, Agatha, Colobran, Roger, Soler-Palacin, Pere, Lapunzina, Pablo, Tenorio, Jair, Pujol, Aurora, Castagna, Maria Grazia, Marcelli, Marco, Isidori, Andrea M., Renieri, Alessandra, Frullanti, Elisa, Mari, Francesca
出版年 EBioMedicine (2021)