Expanding Phenotype of Schimke Immuno-Osseous Dysplasia: Congenital Anomalies of the Kidneys and of the Urinary Tract and Alteration of NK Cells
Bertulli, Cristina, Marzollo, Antonio, Doria, Margherita, Di Cesare, Silvia, La Scola, Claudio, Mencarelli, Francesca, Pasini, Andrea, Affinita, Maria Carmen, Vidal, Enrico, Magini, Pamela, Dimartino, Paola, Masetti, Riccardo, Greco, Laura, Palomba, Patrizia, Conti, Francesca, Pession, Andra
Published in International journal of molecular sciences (15.11.2020)
Published in International journal of molecular sciences (15.11.2020)
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Accurate Detection of Hot-Spot MTOR Somatic Mutations in Archival Surgical Specimens of Focal Cortical Dysplasia by Molecular Inversion Probes
Dimartino, Paola, Mariani, Valeria, Marconi, Caterina, Minardi, Raffaella, Bramerio, Manuela, Licchetta, Laura, Menghi, Veronica, Morandi, Luca, Magini, Pamela, Mongelli, Patrizia, Cardinale, Francesco, Seri, Marco, Tinuper, Paolo, Tassi, Laura, Pippucci, Tommaso, Bisulli, Francesca
Published in Molecular diagnosis & therapy (01.10.2020)
Published in Molecular diagnosis & therapy (01.10.2020)
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Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes
Giovenino, Chiara, Trajkova, Slavica, Pavinato, Lisa, Cardaropoli, Simona, Pullano, Verdiana, Ferrero, Enza, Sukarova-Angelovska, Elena, Carestiato, Silvia, Salmin, Paola, Rinninella, Antonina, Battaglia, Anthony, Bertoli, Luca, Fadda, Antonio, Palermo, Flavia, Carli, Diana, Mussa, Alessandro, Dimartino, Paola, Bruselles, Alessandro, Froukh, Tawfiq, Mandrile, Giorgia, Pasini, Barbara, De Rubeis, Silvia, Buxbaum, Joseph D, Pippucci, Tommaso, Tartaglia, Marco, Rossato, Marzia, Delledonne, Massimo, Ferrero, Giovanni Battista, Brusco, Alfredo
Published in European journal of human genetics : EJHG (01.11.2023)
Published in European journal of human genetics : EJHG (01.11.2023)
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Spontaneous remission in a Diamond‐Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation
Garelli, Emanuela, Quarello, Paola, Giorgio, Elisa, Carando, Adriana, Menegatti, Elisa, Mancini, Cecilia, Di Gregorio, Eleonora, Crescenzio, Nicoletta, Palumbo, Orazio, Carella, Massimo, Dimartino, Paola, Pippucci, Tommaso, Dianzani, Irma, Ramenghi, Ugo, Brusco, Alfredo
Published in British journal of haematology (01.06.2019)
Published in British journal of haematology (01.06.2019)
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Structural Variants at the LMNB1 Locus: Deciphering Pathomechanisms in Autosomal Dominant Adult‐Onset Demyelinating Leukodystrophy
Dimartino, Paola, Zadorozhna, Mariia, Yumiceba, Verónica, Basile, Anna, Cani, Ilaria, Melo, Uirá Souto, Henck, Jana, Breur, Marjolein, Tonon, Caterina, Lodi, Raffaele, Brusco, Alfredo, Pippucci, Tommaso, Koufi, Foteini‐Dionysia, Boschetti, Elisa, Ramazzotti, Giulia, Manzoli, Lucia, Ratti, Stefano, Pinto E Vairo, Filippo, Delatycki, Martin B., Vaula, Giovanna, Cortelli, Pietro, Bugiani, Marianna, Spielmann, Malte, Giorgio, Elisa
Published in Annals of neurology (01.11.2024)
Published in Annals of neurology (01.11.2024)
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Expanding the clinical phenotype of the ultra‐rare Skraban‐Deardorff syndrome: Two novel individuals with WDR26 loss‐of‐function variants and a literature review
Pavinato, Lisa, Trajkova, Slavica, Grosso, Enrico, Giorgio, Elisa, Bruselles, Alessandro, Radio, Francesca Clementina, Pippucci, Tommaso, Dimartino, Paola, Tartaglia, Marco, Petlichkovski, Aleksandar, De Rubeis, Silvia, Buxbaum, Joseph, Ferrero, Giovanni Battista, Keller, Roberto, Brusco, Alfredo
Published in American journal of medical genetics. Part A (01.06.2021)
Published in American journal of medical genetics. Part A (01.06.2021)
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Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis
Pavinato, Lisa, Villamor-Payà, Marina, Sanchiz-Calvo, Maria, Andreoli, Cristina, Gay, Marina, Vilaseca, Marta, Arauz-Garofalo, Gianluca, Ciolfi, Andrea, Bruselles, Alessandro, Pippucci, Tommaso, Prota, Valentina, Carli, Diana, Giorgio, Elisa, Radio, Francesca Clementina, Antona, Vincenzo, Giuffrè, Mario, Ranguin, Kara, Colson, Cindy, De Rubeis, Silvia, Dimartino, Paola, Buxbaum, Joseph D, Ferrero, Giovanni Battista, Tartaglia, Marco, Martinelli, Simone, Stracker, Travis H, Brusco, Alfredo
Published in Journal of medical genetics (01.02.2022)
Published in Journal of medical genetics (01.02.2022)
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Is Focal Cortical Dysplasia/Epilepsy Caused by Somatic MTOR Mutations Always a Unilateral Disorder?
Guerrini, Renzo, Cavallin, Mara, Pippucci, Tommaso, Rosati, Anna, Bisulli, Francesca, Dimartino, Paola, Barba, Carmen, Garbelli, Rita, Buccoliero, Anna Maria, Tassi, Laura, Conti, Valerio
Published in Neurology. Genetics (01.02.2021)
Published in Neurology. Genetics (01.02.2021)
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Journal Article
DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity
Trajkova, Slavica, Kerkhof, Jennifer, Rossi Sebastiano, Matteo, Pavinato, Lisa, Ferrero, Enza, Giovenino, Chiara, Carli, Diana, Di Gregorio, Eleonora, Marinoni, Roberta, Mandrile, Giorgia, Palermo, Flavia, Carestiato, Silvia, Cardaropoli, Simona, Pullano, Verdiana, Rinninella, Antonina, Giorgio, Elisa, Pippucci, Tommaso, Dimartino, Paola, Rzasa, Jessica, Rooney, Kathleen, McConkey, Haley, Petlichkovski, Aleksandar, Pasini, Barbara, Sukarova-Angelovska, Elena, Campbell, Christopher M., Metcalfe, Kay, Jenkinson, Sarah, Banka, Siddharth, Mussa, Alessandro, Ferrero, Giovanni Battista, Sadikovic, Bekim, Brusco, Alfredo
Published in HGG advances (18.07.2024)
Published in HGG advances (18.07.2024)
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