Coffin–Siris and Nicolaides–Baraitser syndromes are a common well recognizable cause of intellectual disability
Mari, Francesca, Marozza, Annabella, Mencarelli, Maria Antonietta, Lo Rizzo, Caterina, Fallerini, Chiara, Dosa, Laura, Di Marco, Chiara, Carignani, Giulia, Baldassarri, Margherita, Cianci, Paola, Vivarelli, Rossella, Vascotto, Marina, Grosso, Salvatore, Rubegni, Pietro, Caffarelli, Carla, Pretegiani, Elena, Fimiani, Michele, Garavelli, Livia, Cristofoli, Francesca, Vermeesch, Joris R, Nuti, Ranuccio, Dotti, Maria Teresa, Balestri, Paolo, Hayek, Joussef, Selicorni, Angelo, Renieri, Alessandra
Published in Brain & development (Tokyo. 1979) (01.05.2015)
Published in Brain & development (Tokyo. 1979) (01.05.2015)
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Array comparative genomic hybridization in retinoma and retinoblastoma tissues
Sampieri, Katia, Amenduni, Mariangela, Papa, Filomena Tiziana, Katzaki, Eleni, Mencarelli, Maria Antonietta, Marozza, Annabella, Epistolato, Maria Carmela, Toti, Paolo, Lazzi, Stefano, Bruttini, Mirella, De Filippis, Roberta, De Francesco, Sonia, Longo, Ilaria, Meloni, Ilaria, Mari, Francesca, Acquaviva, Antonio, Hadjistilianou, Theodora, Renieri, Alessandra, Ariani, Francesca
Published in Cancer science (01.03.2009)
Published in Cancer science (01.03.2009)
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A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett‐like features
Papa, Filomena Tiziana, Mencarelli, Maria Antonietta, Caselli, Rossella, Katzaki, Eleni, Sampieri, Katia, Meloni, Ilaria, Ariani, Francesca, Longo, Ilaria, Maggio, Angela, Balestri, Paolo, Grosso, Salvatore, Farnetani, Maria Angela, Berardi, Rosario, Mari, Francesca, Renieri, Alessandra
Published in American journal of medical genetics. Part A (01.08.2008)
Published in American journal of medical genetics. Part A (01.08.2008)
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p53 Arg72Pro and MDM2 309 SNPs in hereditary retinoblastoma
Epistolato, Maria Carmela, Disciglio, Vittoria, Livide, Gabriella, Berchialla, Paola, Mencarelli, Maria Antonietta, Marozza, Annabella, Amenduni, Mariangela, Hadjistilianou, Theodora, De Francesco, Sonia, Acquaviva, Antonio, Toti, Paolo, Cetta, Francesco, Ariani, Francesca, De Marchi, Mario, Renieri, Alessandra, Giachino, Daniela
Published in Journal of human genetics (01.09.2011)
Published in Journal of human genetics (01.09.2011)
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New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing
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Published in International journal of molecular sciences (14.12.2021)
Published in International journal of molecular sciences (14.12.2021)
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New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells
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
Published in European journal of human genetics : EJHG (01.04.2020)
Published in European journal of human genetics : EJHG (01.04.2020)
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GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells
Livide, Gabriella, Patriarchi, Tommaso, Amenduni, Mariangela, Amabile, Sonia, Yasui, Dag, Calcagno, Eleonora, Lo Rizzo, Caterina, De Falco, Giulia, Ulivieri, Cristina, Ariani, Francesca, Mari, Francesca, Mencarelli, Maria Antonietta, Hell, Johannes Wilhelm, Renieri, Alessandra, Meloni, Ilaria
Published in European journal of human genetics : EJHG (01.02.2015)
Published in European journal of human genetics : EJHG (01.02.2015)
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Identification of a Novel SHANK2 Pathogenic Variant in a Patient with a Neurodevelopmental Disorder
Doddato, Gabriella, Fabbiani, Alessandra, Scandurra, Valeria, Canitano, Roberto, Mencarelli, Maria Antonietta, Renieri, Alessandra, Ariani, Francesca
Published in Genes (14.04.2022)
Published in Genes (14.04.2022)
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Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant
Borghesi, Alessandro, Mencarelli, Maria Antonietta, Memo, Luigi, Ferrero, Giovanni Battista, Bartuli, Andrea, Genuardi, Maurizio, Stronati, Mauro, Villani, Alberto, Renieri, Alessandra, Corsello, Giovanni
Published in Italian journal of pediatrics (03.11.2017)
Published in Italian journal of pediatrics (03.11.2017)
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Clinical Features at Onset and Genetic Characterization of Pediatric and Adult Patients with TNF-α Receptor—Associated Periodic Syndrome (TRAPS): A Series of 80 Cases from the AIDA Network
Gaggiano, Carla, Vitale, Antonio, Obici, Laura, Merlini, Giampaolo, Soriano, Alessandra, Viapiana, Ombretta, Cattalini, Marco, Maggio, Maria Cristina, Lopalco, Giuseppe, Montin, Davide, Jaber, Masen Abdel, Dagna, Lorenzo, Manna, Raffaele, Insalaco, Antonella, Piga, Matteo, La Torre, Francesco, Berlengiero, Virginia, Gelardi, Viviana, Ciarcia, Luisa, Emmi, Giacomo, Ruscitti, Piero, Caso, Francesco, Cimaz, Rolando, Hernández-Rodríguez, José, Parronchi, Paola, Sicignano, Ludovico Luca, Verrecchia, Elena, Iannone, Florenzo, Sota, Jurgen, Grosso, Salvatore, Salvarani, Carlo, Frediani, Bruno, Giacomelli, Roberto, Mencarelli, Maria Antonietta, Renieri, Alessandra, Rigante, Donato, Cantarini, Luca
Published in Mediators of inflammation (2020)
Published in Mediators of inflammation (2020)
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Spondyloocular Syndrome: A Novel XYLT2 Variant with Description of the Neonatal Phenotype
Doddato, Gabriella, Fabbiani, Alessandra, Fallerini, Chiara, Bruttini, Mirella, Hadjistilianou, Theodora, Landi, Martino, Coradeschi, Caterina, Grosso, Salvatore, Tomasini, Barbara, Mencarelli, Maria Antonietta, Renieri, Alessandra, Ariani, Francesca
Published in Frontiers in genetics (03.12.2021)
Published in Frontiers in genetics (03.12.2021)
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Corrigendum: Spondyloocular syndrome: A novel XYLT2 variant with description of the neonatal phenotype
Doddato, Gabriella, Fabbiani, Alessandra, Fallerini, Chiara, Bruttini, Mirella, Hadjistilianou, Theodora, Landi, Martino, Coradeschi, Caterina, Grosso, Salvatore, Tomasini, Barbara, Mencarelli, Maria Antonietta, Renieri, Alessandra, Ariani, Francesca
Published in Frontiers in genetics (2023)
Published in Frontiers in genetics (2023)
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SPTBN5, Encoding the βV-Spectrin Protein, Leads to a Syndrome of Intellectual Disability, Developmental Delay, and Seizures
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
Published in Frontiers in molecular neuroscience (17.06.2022)
Published in Frontiers in molecular neuroscience (17.06.2022)
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Revealing the complexity of a monogenic disease: rett syndrome exome sequencing
Grillo, Elisa, Lo Rizzo, Caterina, Bianciardi, Laura, Bizzarri, Veronica, Baldassarri, Margherita, Spiga, Ottavia, Furini, Simone, De Felice, Claudio, Signorini, Cinzia, Leoncini, Silvia, Pecorelli, Alessandra, Ciccoli, Lucia, Mencarelli, Maria Antonietta, Hayek, Joussef, Meloni, Ilaria, Ariani, Francesca, Mari, Francesca, Renieri, Alessandra
Published in PloS one (28.02.2013)
Published in PloS one (28.02.2013)
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Autism Spectrum Disorders: Analysis of Mobile Elements at 7q11.23 Williams-Beuren Region by Comparative Genomics
Cupaioli, Francesca Anna, Fallerini, Chiara, Mencarelli, Maria Antonietta, Perticaroli, Valentina, Filippini, Virginia, Mari, Francesca, Renieri, Alessandra, Mezzelani, Alessandra
Published in Genes (12.10.2021)
Published in Genes (12.10.2021)
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FOXG1 Is Responsible for the Congenital Variant of Rett Syndrome
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
Published in American journal of human genetics (01.07.2008)
Published in American journal of human genetics (01.07.2008)
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MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability
Bianciardi, Laura, Fichera, Marco, Failla, Pinella, Di Marco, Chiara, Grozeva, Detelina, Mencarelli, Maria Antonietta, Spiga, Ottavia, Mari, Francesca, Meloni, Ilaria, Raymond, Lucy, Renieri, Alessandra, Romano, Corrado, Ariani, Francesca
Published in Journal of human genetics (01.02.2016)
Published in Journal of human genetics (01.02.2016)
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Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of BRCA1/2 Variants of Uncertain Significance
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
Published in Cancers (01.03.2019)
Published in Cancers (01.03.2019)
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RB1 Germline Variant Predisposing to a Rare Ovarian Germ Cell Tumor: A Case Report
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
Published in Frontiers in oncology (21.08.2020)
Published in Frontiers in oncology (21.08.2020)
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Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations
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
Published in Brain sciences (16.07.2021)
Published in Brain sciences (16.07.2021)
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