Generation of a human induced pluripotent stem cell line (FSMi001-A) from fibroblasts of a patient carrying heterozygous mutation in the REEP1 gene
Baggiani, Matteo, Santorelli, Filippo Maria, Mero, Serena, Privitera, Flavia, Damiani, Devid, Tessa, Alessandra
Published in Stem cell research (01.09.2024)
Published in Stem cell research (01.09.2024)
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Non-Specific Epileptic Activity, EEG, and Brain Imaging in Loss of Function Variants in SATB1 : A New Case Report and Review of the Literature
Privitera, Flavia, Pagano, Stefano, Meossi, Camilla, Battini, Roberta, Bartolini, Emanuele, Montanaro, Domenico, Santorelli, Filippo Maria
Published in Genes (25.04.2024)
Published in Genes (25.04.2024)
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Heterozygosity for neuronal ceroid lipofuscinosis predisposes to bipolar disorder
Privitera, Flavia, Trusso, Maria A, Valentino, Floriana, Doddato, Gabriella, Fallerini, Chiara, Brunelli, Giulia, D'Aurizio, Romina, Furini, Simone, Goracci, Arianna, Fagiolini, Andrea, Mari, Francesca, Renieri, Alessandra, Ariani, Francesca
Published in Revista brasileira de psiquiatria (01.01.2023)
Published in Revista brasileira de psiquiatria (01.01.2023)
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SCAR32: Functional characterization and expansion of the clinical‐genetic spectrum
Naef, Valentina, Lieto, Maria, Satolli, Sara, De Micco, Rosa, Troisi, Martina, Pasquariello, Rosa, Doccini, Stefano, Privitera, Flavia, Filla, Alessandro, Tessitore, Alessandro, Santorelli, Filippo Maria
Published in Annals of clinical and translational neurology (01.07.2024)
Published in Annals of clinical and translational neurology (01.07.2024)
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13q Deletion Syndrome Involving RB1 : Characterization of a New Minimal Critical Region for Psychomotor Delay
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
Published in Genes (26.08.2021)
Published in Genes (26.08.2021)
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Generation and Characterization of hiPS Lines from Three Patients Affected by Different Forms of HPDL-Related Neurological Disorders
Baggiani, Matteo, Damiani, Devid, Privitera, Flavia, Della Vecchia, Stefania, Tessa, Alessandra, Santorelli, Filippo Maria
Published in International journal of molecular sciences (02.10.2024)
Published in International journal of molecular sciences (02.10.2024)
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Non-Specific Epileptic Activity, EEG, and Brain Imaging in Loss of Function Variants in ISATB1/I: A New Case Report and Review of the Literature
Privitera, Flavia, Pagano, Stefano, Meossi, Camilla, Battini, Roberta, Bartolini, Emanuele, Montanaro, Domenico, Santorelli, Filippo Maria
Published in Genes (01.05.2024)
Published in Genes (01.05.2024)
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Journal Article
IQSEC2 disorder: A new disease entity or a Rett spectrum continuum?
Lopergolo, Diego, Privitera, Flavia, Castello, Giuseppe, Lo Rizzo, Caterina, Mencarelli, Maria Antonietta, Pinto, Anna Maria, Ariani, Francesca, Currò, Aurora, Lamacchia, Vittoria, Canitano, Roberto, Vaghi, Elisabetta, Ferrarini, Alessandra, Baltodano, Gerardo Mejia, Lederer, Damien, Van Maldergem, Lionel, Serrano, Mercedes, Pineda, Mercè, Fons‐Estupina, Maria Del Carmen, Van Esch, Hilde, Breckpot, Jeroen, Kumps, Candy, Callewaert, Bert, Mueller, Sabrina, Ramelli, Gian Paolo, Armstrong, Judith, Renieri, Alessandra, Mari, Francesca
Published in Clinical genetics (01.03.2021)
Published in Clinical genetics (01.03.2021)
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Genetic modifiers and ascertainment drive variable expressivity of complex disorders
Jensen, Matthew, Smolen, Corrine, Tyryshkina, Anastasia, Pizzo, Lucilla, Banerjee, Deepro, Oetjens, Matthew, Shimelis, Hermela, Taylor, Cora M, Pounraja, Vijay Kumar, Song, Hyebin, Rohan, Laura, Huber, Emily, El Khattabi, Laila, van de Laar, Ingrid, Tadros, Rafik, Bezzina, Connie, van Slegtenhorst, Marjon, Kammeraad, Janneke, Prontera, Paolo, Caberg, Jean-Hubert, Fraser, Harry, Banka, Siddhartha, Van Dijck, Anke, Schwartz, Charles, Voorhoeve, Els, Callier, Patrick, Mosca-Boidron, Anne-Laure, Marle, Nathalie, Lefebvre, Mathilde, Pope, Kate, Snell, Penny, Boys, Amber, Lockhart, Paul J, Ashfaq, Myla, McCready, Elizabeth, Nowacyzk, Margaret, Castiglia, Lucia, Galesi, Ornella, Avola, Emanuela, Mattina, Teresa, Fichera, Marco, Bruccheri, Maria Grazia, Mandarà, Giuseppa Maria Luana, Mari, Francesca, Privitera, Flavia, Longo, Ilaria, Curró, Aurora, Renieri, Alessandra, Keren, Boris, Charles, Perrine, Cuinat, Silvestre, Nizon, Mathilde, Pichon, Olivier, Bénéteau, Claire, Stoeva, Radka, Martin-Coignard, Dominique, Blesson, Sophia, Le Caignec, Cedric, Mercier, Sandra, Vincent, Marie, Martin, Christa, Mannik, Katrin, Reymond, Alexandre, Faivre, Laurence, Sistermans, Erik, Kooy, R Frank, Amor, David J, Romano, Corrado, Andrieux, Joris, Girirajan, Santhosh
Published in medRxiv : the preprint server for health sciences (28.08.2024)
Published in medRxiv : the preprint server for health sciences (28.08.2024)
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