Search Results - "Tita, Rossella"

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

“…Alport syndrome (AS) is an inherited genetic disorder characterized by range of alterations from glomerular basement membrane abnormalities up to end-stage…”
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New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing by Bruno, Lucia Pia, Doddato, Gabriella, Valentino, Floriana, Baldassarri, Margherita, Tita, Rossella, Fallerini, Chiara, Bruttini, Mirella, Lo Rizzo, Caterina, Mencarelli, Maria Antonietta, Mari, Francesca, Pinto, Anna Maria, Fava, Francesca, Fabbiani, Alessandra, Lamacchia, Vittoria, Carrer, Anna, Caputo, Valentina, Granata, Stefania, Benetti, Elisa, Zguro, Kristina, Furini, Simone, Renieri, Alessandra, Ariani, Francesca

“…Intellectual disability (ID) is characterized by impairments in the cognitive processes and in the tasks of daily life. It encompasses a clinically and…”
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AAV-mediated FOXG1 gene editing in human Rett primary cells by Croci, Susanna, Carriero, Miriam Lucia, Capitani, Katia, Daga, Sergio, Donati, Francesco, Papa, Filomena Tiziana, Frullanti, Elisa, Lopergolo, Diego, Lamacchia, Vittoria, Tita, Rossella, Giliberti, Annarita, Benetti, Elisa, Niccheri, Francesca, Furini, Simone, Lo Rizzo, Caterina, Conticello, Silvestro Giovanni, Renieri, Alessandra, Meloni, Ilaria

“…Variations in the Forkhead Box G1 (FOXG1) gene cause FOXG1 syndrome spectrum, including the congenital variant of Rett syndrome, characterized by early onset…”
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High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot by Croci, Susanna, Carriero, Miriam Lucia, Capitani, Katia, Daga, Sergio, Donati, Francesco, Frullanti, Elisa, Lamacchia, Vittoria, Tita, Rossella, Giliberti, Annarita, Valentino, Floriana, Benetti, Elisa, Ciabattini, Annalisa, Furini, Simone, Lo Rizzo, Caterina, Pinto, Anna Maria, Conticello, Silvestro Giovanni, Renieri, Alessandra, Meloni, Ilaria

“…Rett syndrome is a progressive neurodevelopmental disorder which affects almost exclusively girls, caused by variants in MECP2 gene. Effective therapies for…”
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RB1 Germline Variant Predisposing to a Rare Ovarian Germ Cell Tumor: A Case Report by 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

“…Malignant ovarian germ cell tumors (MOGCTs) are neoplasms of the ovary, of which, due to their rarity and heterogeneity, few is reported about genetic…”
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Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations by 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

“…Intellectual disability (ID) and autism spectrum disorder (ASD) belong to neurodevelopmental disorders and occur in ~1% of the general population. Due to…”
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PIK3CA-CDKN2A clonal evolution in metastatic breast cancer and multiple points cell-free DNA analysis by Palmieri, Maria, Baldassarri, Margherita, Fava, Francesca, Fabbiani, Alessandra, Campennì, Giuseppe Maria, Mencarelli, Maria Antonietta, Tita, Rossella, Marsili, Stefania, Renieri, Alessandra, Frullanti, Elisa

“…Daily experience tells us that breast cancer can be controlled using standard protocols up to the advent of a relapse. Now new frontiers in precision medicine…”
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Corrigendum: Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes by 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, Rizzo, Caterina Lo, Lamacchia, Vittoria, Mannucci, Sara, Pinto, Anna Maria, Currò, Aurora, Mancini, Virginia, Mari, Francesca, Renieri, Alessandra, Ariani, Francesca

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Exome sequencing in BRCA1-2 candidate familias: the contribution of other cancer susceptibility genes by 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, Curr, Aurora, Mancini, Virginia, Mari, Francesca, Renieri, Alessandra, Ariani, Francesca

“…Hereditary Breast and Ovarian Cancer (HBOC) syndrome is a condition in which the risk of breast and ovarian cancer is higher than in the general population…”
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Two‐point‐NGS analysis of cancer genes in cell‐free DNA of metastatic cancer patients by Palmieri, Maria, Baldassarri, Margherita, Fava, Francesca, Fabbiani, Alessandra, Gelli, Elisa, Tita, Rossella, Torre, Pamela, Petrioli, Roberto, Hadijstilianou, Theodora, Galimberti, Daniela, Cinotti, Elisa, Bengala, Carmelo, Mandalà, Marco, Piu, Pietro, Miano, Salvatora Tindara, Martellucci, Ignazio, Vannini, Agnese, Pinto, Anna Maria, Mencarelli, Maria Antonietta, Marsili, Stefania, Renieri, Alessandra, Frullanti, Elisa

“…Background Although the efficacy of molecularly target agents in vitro, their use in routine setting is limited mainly to the use of anti‐HER2 and antiEGFR…”
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Deficiency in the nuclear long noncoding RNA Charme causes myogenic defects and heart remodeling in mice by Ballarino, Monica, Cipriano, Andrea, Tita, Rossella, Santini, Tiziana, Desideri, Fabio, Morlando, Mariangela, Colantoni, Alessio, Carrieri, Claudia, Nicoletti, Carmine, Musarò, Antonio, Carroll, Dònal O’, Bozzoni, Irene

“…Myogenesis is a highly regulated process that involves the conversion of progenitor cells into multinucleated myofibers. Besides proteins and miRNAs, long…”
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Association of Toll-like receptor 7 variants with life-threatening COVID-19 disease in males: findings from a nested case-control study by 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

“…Recently, loss-of-function variants in TLR7 were identified in two families in which COVID-19 segregates like an X-linked recessive disorder environmentally…”
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Slowly progressive autosomal dominant Alport Syndrome due to COL4A3 splicing variant by Daga, Sergio, Loberti, Lorenzo, Rollo, Giulia, Adamo, Loredaria, Colavecchio, Olga Lorenza, Brunelli, Giulia, Zguro, Kristina, Tripodi, Sergio Antonio, Guarnieri, Andrea, Garosi, Guido, D'Aurizio, Romina, Ariani, Francesca, Tita, Rossella, Renieri, Alessandra, Pinto, Anna Maria

“…Alport syndrome is a rare genetic kidney disease caused by variants in the COL4A3/A4/A5 genes. It's characterised by progressive kidney failure, though…”
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Correction: New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells by 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

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Correction to: High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot by Croci, Susanna, Carriero, Miriam Lucia, Capitani, Katia, Daga, Sergio, Donati, Francesco, Frullanti, Elisa, Lamacchia, Vittoria, Tita, Rossella, Giliberti, Annarita, Valentino, Floriana, Benetti, Elisa, Ciabattini, Annalisa, Furini, Simone, Lo Rizzo, Caterina, Pinto, Anna Maria, Conticello, Silvestro Giovanni, Renieri, Alessandra, Meloni, Ilaria

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Identification of a Novel Pathogenic Variant in the NAGLU Gene in a Child with Neurodevelopmental Delay by Bruno, Lucia Pia, Fava, Francesca, Baldassarri, Margherita, Salvati, Virginia M., Scandurra, Valeria, Canitano, Roberto, Valentino, Floriana, Doddato, Gabriella, Tita, Rossella, Giliberti, Annarita, Renieri, Alessandra, Ariani, Francesca

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

“…Within the GEN-COVID Multicenter Study, biospecimens from more than 1000 SARS-CoV-2 positive individuals have thus far been collected in the GEN-COVID Biobank…”
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Clinical and molecular characterization of COVID-19 hospitalized patients by 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

“…Clinical and molecular characterization by Whole Exome Sequencing (WES) is reported in 35 COVID-19 patients attending the University Hospital in Siena, Italy,…”
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Specific clonal expansion at disease progression (PD) in solid cancers pinpointed by cell free DNA analysis by Frullanti, Elisa, Palmieri, Maria, Baldassarri, Margherita, Fava, Francesca, Fabbiani, Alessandra, Gelli, Elisa, Tita, Rossella, Torre, Pamela, Petrioli, Roberto, Hadijstilianou, Theodora, Galimberti, Daniela, Cinotti, Elisa, Mencarelli, Maria Antonietta, Pinto, Anna Maria, Francini, Edoardo, Marsili, Stafania, Francini, Guido, Renieri, Alessandra

“…Abstract only e13144 Background: More than 50% of solid cancers sooner or later escape control of standard treatments. Detection and analysis of cell free…”
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Gaining insights into the DICER1 syndrome: An early report from the Italian DICER1 registry by De Nicolo, Arcangela, Turchetti, Daniela, Brugnoletti, Fulvia, Elefanti, Lisa, Field, Amanda, Innella, Giovanni, Tita, Rossella, Feroce, Irene, Pomponi, Maria Grazia, Zuntini, Roberta, Renieri, Alessandra, Bonanni, Bernardo, Kanellopoulou, Chrysi, Landi, Maria Teresa, Hill, D. Ashley, Menin, Chiara, Genuardi, Maurizio

“…Abstract only 1519 Background: DICER1 is a key endoribonuclease in the microRNA pathway that modulates gene expression. Germline loss of function variants in…”
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