Nosological and Theranostic Approach to Vascular Malformation through cfDNA NGS Liquid Biopsy

por Serio, Viola Bianca, Palmieri, Maria, Loberti, Lorenzo, Granata, Stefania, Fallerini, Chiara, Vaghi, Massimo, Renieri, Alessandra, Pinto, Anna Maria
Publicado 2022

Clinical, molecular and glycophenotype insights in SLC39A8-CDG

por Bonaventura, Eleonora, Barone, Rita, Sturiale, Luisa, Pasquariello, Rosa, Alessandrì, Maria Grazia, Pinto, Anna Maria, Renieri, Alessandra, Panteghini, Celeste, Garavaglia, Barbara, Cioni, Giovanni, Battini, Roberta
Publicado 2021

Case report: PIK3CA somatic mutation leading to Klippel Trenaunay Syndrome and multiple tumors

por Serio, Viola Bianca, Palmieri, Maria, Innamorato, Simona, Loberti, Lorenzo, Fallerini, Chiara, Ariani, Francesca, Antolini, Enrica, Covarelli, Jasmine, Vaghi, Massimo, Frullanti, Elisa, Renieri, Alessandra, Pinto, Anna Maria
Publicado 2023

U1 snRNP regulates cancer cell migration and invasion in vitro

por Oh, Jung-Min, Venters, Christopher C., Di, Chao, Pinto, Anna Maria, Wan, Lili, Younis, Ihab, Cai, Zhiqiang, Arai, Chie, So, Byung Ran, Duan, Jingqi, Dreyfuss, Gideon
Publicado 2020

Cell-free DNA next-generation sequencing liquid biopsy as a new revolutionary approach for arteriovenous malformation

por Palmieri, Maria, Currò, Aurora, Tommasi, Andrea, Di Sarno, Laura, Doddato, Gabriella, Baldassarri, Margheria, Frullanti, Elisa, Giliberti, Ann Rita, Fallerini, Chiara, Spinazzola, Angelo, Pinto, Anna Maria, Renieri, Alessandra, Vaghi, Massimo
Publicado 2020

13q Deletion Syndrome Involving RB1: Characterization of a New Minimal Critical Region for Psychomotor Delay

por Privitera, Flavia, Calonaci, Arianna, Doddato, Gabriella, Papa, Filomena Tiziana, Baldassarri, Margherita, Pinto, Anna Maria, Mari, Francesca, Longo, Ilaria, Caini, Mauro, Galimberti, Daniela, Hadjistilianou, Theodora, De Francesco, Sonia, Renieri, Alessandra, Ariani, Francesca
Publicado 2021

Compound Heterozygous Missense and Deep Intronic Variants in NDUFAF6 Unraveled by Exome Sequencing and mRNA Analysis

por Catania, Alessia, Ardissone, Anna, Verrigni, Daniela, Legati, Andrea, Reyes, Aurelio, Lamantea, Eleonora, Diodato, Daria, Tonduti, Davide, Imperatore, Valentina, Pinto, Anna Maria, Moroni, Isabella, Bertini, Enrico, Robinson, Alan, Carrozzo, Rosalba, Zeviani, Massimo, Ghezzi, Daniele
Publicado 2018

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

por 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
Publicado 2019

High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot

por 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
Publicado 2020

Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of BRCA1/2 Variants of Uncertain Significance

por Gelli, Elisa, Colombo, Mara, Pinto, Anna Maria, De Vecchi, Giovanna, Foglia, Claudia, Amitrano, Sara, Morbidoni, Valeria, Imperatore, Valentina, Manoukian, Siranoush, Baldassarri, Margherita, Lo Rizzo, Caterina, Catania, Lorenza, Frullanti, Elisa, Tagliafico, Enrico, Cortesi, Laura, Spaggiari, Federica, Mencarelli, Maria Antonietta, Trevisson, Eva, Radice, Paolo, Renieri, Alessandra, Ariani, Francesca
Publicado 2019

Two‐point‐NGS analysis of cancer genes in cell‐free DNA of metastatic cancer patients

por 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
Publicado 2020

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

por 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
Publicado 2021

SPTBN5, Encoding the βV-Spectrin Protein, Leads to a Syndrome of Intellectual Disability, Developmental Delay, and Seizures

por Khan, Amjad, Bruno, Lucia Pia, Alomar, Fadhel, Umair, Muhammad, Pinto, Anna Maria, Khan, Abid Ali, Khan, Alamzeb, Saima, Fabbiani, Alessandra, Zguro, Kristina, Furini, Simone, Mencarelli, Maria Antonietta, Renieri, Alessandra, Resciniti, Sara, Peña-Guerra, Karla A., Guzmán-Vega, Francisco J., Arold, Stefan T., Ariani, Francesca, Khan, Shahid Niaz
Publicado 2022

New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing

por 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
Publicado 2021

ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population

por Benetti, Elisa, Tita, Rossella, Spiga, Ottavia, Ciolfi, Andrea, Birolo, Giovanni, Bruselles, Alessandro, Doddato, Gabriella, Giliberti, Annarita, Marconi, Caterina, Musacchia, Francesco, Pippucci, Tommaso, Torella, Annalaura, Trezza, Alfonso, Valentino, Floriana, Baldassarri, Margherita, Brusco, Alfredo, Asselta, Rosanna, Bruttini, Mirella, Furini, Simone, Seri, Marco, Nigro, Vincenzo, Matullo, Giuseppe, Tartaglia, Marco, Mari, Francesca, Renieri, Alessandra, Pinto, Anna Maria
Publicado 2020

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

por 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
Publicado 2021

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

por 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
Publicado 2021

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

por 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
Publicado 2021

The 2019 and 2021 International Workshops on Alport Syndrome

por Daga, Sergio, Ding, Jie, Deltas, Constantinos, Savige, Judy, Lipska-Ziętkiewicz, Beata S., Hoefele, Julia, Flinter, Frances, Gale, Daniel P., Aksenova, Marina, Kai, Hirofumi, Perin, Laura, Barua, Moumita, Torra, Roser, Miner, Jeff H., Massella, Laura, Ljubanović, Danica Galešić, Lennon, Rachel, Weinstock, Andrè B., Knebelmann, Bertrand, Cerkauskaite, Agne, Gear, Susie, Gross, Oliver, Turner, A. Neil, Baldassarri, Margherita, Pinto, Anna Maria, Renieri, Alessandra
Publicado 2022

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

por 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
Publicado 2021