Works matching AU Tartaglia, Marco

Results: 210
    1

    The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes.

    Published in:
    Neurogenetics, 2018, v. 19, n. 2, p. 111, doi. 10.1007/s10048-018-0545-9
    By:
    • Travaglini, Lorena;
    • Aiello, Chiara;
    • Stregapede, Fabrizia;
    • D’Amico, Adele;
    • Alesi, Viola;
    • Ciolfi, Andrea;
    • Bruselles, Alessandro;
    • Catteruccia, Michela;
    • Pizzi, Simone;
    • Zanni, Ginevra;
    • Loddo, Sara;
    • Barresi, Sabina;
    • Vasco, Gessica;
    • Tartaglia, Marco;
    • Bertini, Enrico;
    • Nicita, Francesco
    Publication type:
    Article
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    Common atrium/atrioventricular canal defect and postaxial polydactyly: A mild clinical subtype of Ellis‐van Creveld syndrome caused by hypomorphic mutations in the EVC gene.

    Published in:
    Human Mutation, 2020, v. 41, n. 12, p. 2087, doi. 10.1002/humu.24112
    By:
    • Piceci‐Sparascio, Francesca;
    • Palencia‐Campos, Adrian;
    • Soto‐Bielicka, Patricia;
    • D'Anzi, Angela;
    • Guida, Valentina;
    • Rosati, Jessica;
    • Caparros‐Martin, Jose A.;
    • Torrente, Isabella;
    • D'Asdia, M. Cecilia;
    • Versacci, Paolo;
    • Briuglia, Silvana;
    • Lapunzina, Pablo;
    • Tartaglia, Marco;
    • Marino, Bruno;
    • Digilio, M. Cristina;
    • Ruiz‐Perez, Victor L.;
    • De Luca, Alessandro
    Publication type:
    Article
    4

    Pathogenic PTPN11 variants involving the poly‐glutamine Gln<sup>255</sup>‐Gln<sup>256</sup>‐Gln<sup>257</sup> stretch highlight the relevance of helix B in SHP2's functional regulation.

    Published in:
    Human Mutation, 2020, v. 41, n. 6, p. 1171, doi. 10.1002/humu.24007
    By:
    • Martinelli, Simone;
    • Pannone, Luca;
    • Lissewski, Christina;
    • Brinkmann, Julia;
    • Flex, Elisabetta;
    • Schanze, Denny;
    • Calligari, Paolo;
    • Anselmi, Massimiliano;
    • Pantaleoni, Francesca;
    • Canale, Viviana Claudia;
    • Radio, Francesca Clementina;
    • Ioannides, Adonis;
    • Rahner, Nils;
    • Schanze, Ina;
    • Josifova, Dragana;
    • Bocchinfuso, Gianfranco;
    • Ryten, Mina;
    • Stella, Lorenzo;
    • Tartaglia, Marco;
    • Zenker, Martin
    Publication type:
    Article
    5

    Clinical and functional characterization of a novel RASopathy‐causing SHOC2 mutation associated with prenatal‐onset hypertrophic cardiomyopathy.

    Published in:
    Human Mutation, 2019, v. 40, n. 8, p. 1046, doi. 10.1002/humu.23767
    By:
    • Motta, Marialetizia;
    • Giancotti, Antonella;
    • Mastromoro, Gioia;
    • Chandramouli, Balasubramanian;
    • Pinna, Valentina;
    • Pantaleoni, Francesca;
    • Di Giosaffatte, Niccolò;
    • Petrini, Stefania;
    • Mazza, Tommaso;
    • D'Ambrosio, Valentina;
    • Versacci, Paolo;
    • Ventriglia, Flavia;
    • Chillemi, Giovanni;
    • Pizzuti, Antonio;
    • Tartaglia, Marco;
    • Luca, Alessandro
    Publication type:
    Article
    6

    Front Cover, Volume 40, Issue 6.

    Published in:
    Human Mutation, 2019, v. 40, n. 6, p. i, doi. 10.1002/humu.23795
    By:
    • Carli, Diana;
    • Giorgio, Elisa;
    • Pantaleoni, Francesca;
    • Bruselles, Alessandro;
    • Barresi, Sabina;
    • Riberi, Evelise;
    • Licciardi, Francesco;
    • Gazzin, Andrea;
    • Baldassarre, Giuseppina;
    • Pizzi, Simone;
    • Niceta, Marcello;
    • Radio, Francesca C.;
    • Molinatto, Cristina;
    • Montin, Davide;
    • Calvo, Pier L.;
    • Ciolfi, Andrea;
    • Fleischer, Nicole;
    • Ferrero, Giovanni B.;
    • Brusco, Alfredo;
    • Tartaglia, Marco
    Publication type:
    Article
    7

    NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype–phenotype correlations.

    Published in:
    Human Mutation, 2019, v. 40, n. 6, p. 721, doi. 10.1002/humu.23734
    By:
    • Carli, Diana;
    • Giorgio, Elisa;
    • Pantaleoni, Francesca;
    • Bruselles, Alessandro;
    • Barresi, Sabina;
    • Riberi, Evelise;
    • Licciardi, Francesco;
    • Gazzin, Andrea;
    • Baldassarre, Giuseppina;
    • Pizzi, Simone;
    • Niceta, Marcello;
    • Radio, Francesca C.;
    • Molinatto, Cristina;
    • Montin, Davide;
    • Calvo, Pier L.;
    • Ciolfi, Andrea;
    • Fleischer, Nicole;
    • Ferrero, Giovanni B.;
    • Brusco, Alfredo;
    • Tartaglia, Marco
    Publication type:
    Article
    8
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    Cover Image, Volume 39, Issue 10.

    Published in:
    Human Mutation, 2018, v. 39, n. 10, p. i, doi. 10.1002/humu.23622
    By:
    • Ferese, Rosangela;
    • Bonetti, Monica;
    • Consoli, Federica;
    • Guida, Valentina;
    • Sarkozy, Anna;
    • Lepri, Francesca Romana;
    • Versacci, Paolo;
    • Gambardella, Stefano;
    • Calcagni, Giulio;
    • Margiotti, Katia;
    • Piceci Sparascio, Francesca;
    • Hozhabri, Hossein;
    • Mazza, Tommaso;
    • Digilio, Maria Cristina;
    • Dallapiccola, Bruno;
    • Tartaglia, Marco;
    • Marino, Bruno;
    • Hertog, Jeroen den;
    • De Luca, Alessandro
    Publication type:
    Article
    10

    Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect.

    Published in:
    Human Mutation, 2018, v. 39, n. 10, p. 1428, doi. 10.1002/humu.23593
    By:
    • Ferese, Rosangela;
    • Bonetti, Monica;
    • Consoli, Federica;
    • Guida, Valentina;
    • Sarkozy, Anna;
    • Lepri, Francesca Romana;
    • Versacci, Paolo;
    • Gambardella, Stefano;
    • Calcagni, Giulio;
    • Margiotti, Katia;
    • Piceci Sparascio, Francesca;
    • Hozhabri, Hossein;
    • Mazza, Tommaso;
    • Digilio, Maria Cristina;
    • Dallapiccola, Bruno;
    • Tartaglia, Marco;
    • Marino, Bruno;
    • Hertog, Jeroen den;
    • De Luca, Alessandro
    Publication type:
    Article
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    Transcriptional hallmarks of noonan syndrome and noonan-like syndrome with loose anagen hair.

    Published in:
    Human Mutation, 2012, v. 33, n. 4, p. 703, doi. 10.1002/humu.22026
    By:
    • Ferrero, Giovanni Battista;
    • Picco, Gabriele;
    • Baldassarre, Giuseppina;
    • Flex, Elisabetta;
    • Isella, Claudio;
    • Cantarella, Daniela;
    • Corà, Davide;
    • Chiesa, Nicoletta;
    • Crescenzio, Nicoletta;
    • Timeus, Fabio;
    • Merla, Giuseppe;
    • Mazzanti, Laura;
    • Zampino, Giuseppe;
    • Rossi, Cesare;
    • Silengo, Margherita;
    • Tartaglia, Marco;
    • Medico, Enzo
    Publication type:
    Article
    14

    Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.

    Published in:
    Human Mutation, 2007, v. 28, n. 3, p. 265, doi. 10.1002/humu.20431
    By:
    • Zampino, Giuseppe;
    • Pantaleoni, Francesca;
    • Carta, Claudio;
    • Cobellis, Gilda;
    • Vasta, Isabella;
    • Neri, Cinzia;
    • Pogna, Edgar A.;
    • De Feo, Emma;
    • Delogu, Angelica;
    • Sarkozy, Anna;
    • Atzeri, Francesca;
    • Selicorni, Angelo;
    • Rauen, Katherine A.;
    • Cytrynbaum, Cheryl S.;
    • Weksberg, Rosanna;
    • Dallapiccola, Bruno;
    • Ballabio, Andrea;
    • Gelb, Bruce D.;
    • Neri, Giovanni;
    • Tartaglia, Marco
    Publication type:
    Article
    15
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    Evaluating cell culture reliability in pediatric brain tumor primary cells through DNA methylation profiling.

    Published in:
    NPJ Precision Oncology, 2024, v. 8, n. 1, p. 1, doi. 10.1038/s41698-024-00578-x
    By:
    • Pedace, Lucia;
    • Pizzi, Simone;
    • Abballe, Luana;
    • Vinci, Maria;
    • Antonacci, Celeste;
    • Patrizi, Sara;
    • Nardini, Claudia;
    • Del Bufalo, Francesca;
    • Rossi, Sabrina;
    • Pericoli, Giulia;
    • Gianno, Francesca;
    • Besharat, Zein Mersini;
    • Tiberi, Luca;
    • Mastronuzzi, Angela;
    • Ferretti, Elisabetta;
    • Tartaglia, Marco;
    • Locatelli, Franco;
    • Ciolfi, Andrea;
    • Miele, Evelina
    Publication type:
    Article
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    Case report: Expanding the phenotype of FOXP1-related intellectual disability syndrome and hyperkinetic movement disorder in differential diagnosis with epileptic seizures.

    Published in:
    Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1207176
    By:
    • Cesaroni, Carlo Alberto;
    • Pollazzon, Marzia;
    • Mancini, Cecilia;
    • Rizzi, Susanna;
    • Cappelletti, Camilla;
    • Pizzi, Simone;
    • Frattini, Daniele;
    • Spagnoli, Carlotta;
    • Caraffi, Stefano Giuseppe;
    • Zuntini, Roberta;
    • Trimarchi, Gabriele;
    • Niceta, Marcello;
    • Radio, Francesca Clementina;
    • Tartaglia, Marco;
    • Garavelli, Livia;
    • Fusco, Carlo
    Publication type:
    Article
    20
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    The Arg99Gln Substitution in HNRNPC Is Associated with a Distinctive Clinical Phenotype Characterized by Facial Dysmorphism and Ocular and Cochlear Anomalies.

    Published in:
    Genes, 2025, v. 16, n. 2, p. 176, doi. 10.3390/genes16020176
    By:
    • Chiriatti, Luigi;
    • Priolo, Manuela;
    • Onesimo, Roberta;
    • Carvetta, Mattia;
    • Leoni, Chiara;
    • Bruselles, Alessandro;
    • Radio, Francesca Clementina;
    • Cappelletti, Camilla;
    • Ferilli, Marco;
    • Ricci, Daniela;
    • Niceta, Marcello;
    • Cordeddu, Viviana;
    • Ciolfi, Andrea;
    • Mancini, Cecilia;
    • Zampino, Giuseppe;
    • Tartaglia, Marco
    Publication type:
    Article
    22

    From Feeding Challenges to Oral-Motor Dyspraxia: A Comprehensive Description of 10 New Cases with CTNNB1 Syndrome.

    Published in:
    Genes, 2023, v. 14, n. 10, p. 1843, doi. 10.3390/genes14101843
    By:
    • Onesimo, Roberta;
    • Sforza, Elisabetta;
    • Trevisan, Valentina;
    • Leoni, Chiara;
    • Giorgio, Valentina;
    • Rigante, Donato;
    • Kuczynska, Eliza Maria;
    • Proli, Francesco;
    • Agazzi, Cristiana;
    • Limongelli, Domenico;
    • Digilio, Maria Cistina;
    • Dentici, Maria Lisa;
    • Macchiaiolo, Maria;
    • Novelli, Antonio;
    • Bartuli, Andrea;
    • Sinibaldi, Lorenzo;
    • Tartaglia, Marco;
    • Zampino, Giuseppe
    Publication type:
    Article
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    MEK Inhibition in a Newborn with RAF1 -Associated Noonan Syndrome Ameliorates Hypertrophic Cardiomyopathy but Is Insufficient to Revert Pulmonary Vascular Disease.

    Published in:
    Genes, 2022, v. 13, n. 1, p. 6, doi. 10.3390/genes13010006
    By:
    • Mussa, Alessandro;
    • Carli, Diana;
    • Giorgio, Elisa;
    • Villar, Anna Maria;
    • Cardaropoli, Simona;
    • Carbonara, Caterina;
    • Campagnoli, Maria Francesca;
    • Galletto, Paolo;
    • Palumbo, Martina;
    • Olivieri, Simone;
    • Isella, Claudio;
    • Andelfinger, Gregor;
    • Tartaglia, Marco;
    • Botta, Giovanni;
    • Brusco, Alfredo;
    • Medico, Enzo;
    • Ferrero, Giovanni Battista
    Publication type:
    Article
    26
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    Epilepsy and BRAF Mutations: Phenotypes, Natural History and Genotype-Phenotype Correlations.

    Published in:
    Genes, 2021, v. 12, n. 9, p. 1316, doi. 10.3390/genes12091316
    By:
    • Battaglia, Domenica I.;
    • Gambardella, Maria Luigia;
    • Veltri, Stefania;
    • Contaldo, Ilaria;
    • Chillemi, Giovanni;
    • Veredice, Chiara;
    • Quintiliani, Michela;
    • Leoni, Chiara;
    • Onesimo, Roberta;
    • Verdolotti, Tommaso;
    • Radio, Francesca Clementina;
    • Martinelli, Diego;
    • Trivisano, Marina;
    • Specchio, Nicola;
    • Dravet, Charlotte;
    • Tartaglia, Marco;
    • Zampino, Giuseppe
    Publication type:
    Article
    28

    Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the CEP85L Gene: A Case Report and Refining of the Phenotypic Spectrum.

    Published in:
    Genes, 2021, v. 12, n. 8, p. 1208, doi. 10.3390/genes12081208
    By:
    • Contrò, Gianluca;
    • Micalizzi, Alessia;
    • Giangiobbe, Sara;
    • Caraffi, Stefano Giuseppe;
    • Zuntini, Roberta;
    • Rosato, Simonetta;
    • Pollazzon, Marzia;
    • Terracciano, Alessandra;
    • Napoli, Manuela;
    • Rizzi, Susanna;
    • Salerno, Grazia Gabriella;
    • Radio, Francesca Clementina;
    • Niceta, Marcello;
    • Parrini, Elena;
    • Fusco, Carlo;
    • Gargano, Giancarlo;
    • Guerrini, Renzo;
    • Tartaglia, Marco;
    • Novelli, Antonio;
    • Zuffardi, Orsetta
    Publication type:
    Article
    29

    Cardiac Defects and Genetic Syndromes: Old Uncertainties and New Insights.

    Published in:
    Genes, 2021, v. 12, n. 7, p. 1047, doi. 10.3390/genes12071047
    By:
    • Calcagni, Giulio;
    • Pugnaloni, Flaminia;
    • Digilio, Maria Cristina;
    • Unolt, Marta;
    • Putotto, Carolina;
    • Niceta, Marcello;
    • Baban, Anwar;
    • Piceci Sparascio, Francesca;
    • Drago, Fabrizio;
    • De Luca, Alessandro;
    • Tartaglia, Marco;
    • Marino, Bruno;
    • Versacci, Paolo
    Publication type:
    Article
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    Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples.

    Published in:
    Genes, 2021, v. 12, n. 7, p. 962, doi. 10.3390/genes12070962
    By:
    • Peluso, Francesca;
    • Caraffi, Stefano Giuseppe;
    • Zuntini, Roberta;
    • Trimarchi, Gabriele;
    • Ivanovski, Ivan;
    • Valeri, Lara;
    • Barbieri, Veronica;
    • Marinelli, Maria;
    • Pancaldi, Alessia;
    • Melli, Nives;
    • Cesario, Claudia;
    • Agolini, Emanuele;
    • Cellini, Elena;
    • Radio, Francesca Clementina;
    • Crisafi, Antonella;
    • Napoli, Manuela;
    • Guerrini, Renzo;
    • Tartaglia, Marco;
    • Novelli, Antonio;
    • Gargano, Giancarlo
    Publication type:
    Article
    33

    Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White–Sutton Syndrome: Case Report and Review of the Literature.

    Published in:
    Genes, 2021, v. 12, n. 7, p. 950, doi. 10.3390/genes12070950
    By:
    • Trimarchi, Gabriele;
    • Caraffi, Stefano Giuseppe;
    • Radio, Francesca Clementina;
    • Barresi, Sabina;
    • Contrò, Gianluca;
    • Pizzi, Simone;
    • Maini, Ilenia;
    • Pollazzon, Marzia;
    • Fusco, Carlo;
    • Sassi, Silvia;
    • Nicoli, Davide;
    • Napoli, Manuela;
    • Pascarella, Rosario;
    • Gargano, Giancarlo;
    • Zuffardi, Orsetta;
    • Tartaglia, Marco;
    • Garavelli, Livia
    Publication type:
    Article
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    Malignant peripheral nerve sheath tumor (MPNST) and MPNST-like entities are defined by a specific DNA methylation profile in pediatric and juvenile population.

    Published in:
    Clinical Epigenetics, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13148-023-01621-7
    By:
    • Patrizi, Sara;
    • Miele, Evelina;
    • Falcone, Lorenza;
    • Vallese, Silvia;
    • Rossi, Sabrina;
    • Barresi, Sabina;
    • Giovannoni, Isabella;
    • Pedace, Lucia;
    • Nardini, Claudia;
    • Masier, Ilaria;
    • Abballe, Luana;
    • Cacchione, Antonella;
    • Russo, Ida;
    • Di Giannatale, Angela;
    • Di Ruscio, Valentina;
    • Salgado, Claudia Maria;
    • Mastronuzzi, Angela;
    • Ciolfi, Andrea;
    • Tartaglia, Marco;
    • Milano, Giuseppe Maria
    Publication type:
    Article
    36
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    Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome.

    Published in:
    European Journal of Human Genetics, 2009, v. 17, n. 4, p. 420, doi. 10.1038/ejhg.2008.188
    By:
    • Neumann, Thomas E.;
    • Allanson, Judith;
    • Kavamura, Ines;
    • Kerr, Bronwyn;
    • Neri, Giovanni;
    • Noonan, Jacqueline;
    • Cordeddu, Viviana;
    • Gibson, Kate;
    • Tzschach, Andreas;
    • Krüger, Gabriele;
    • Hoeltzenbein, Maria;
    • Goecke, Timm O.;
    • Kehl, Hans Gerd;
    • Albrecht, Beate;
    • Luczak, Klaudiusz;
    • Sasiadek, Maria M;
    • Musante, Luciana;
    • Laurie, Rohan;
    • Peters, Hartmut;
    • Tartaglia, Marco
    Publication type:
    Article
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    Expanding the spectrum of EWSR1‐PATZ1 rearranged CNS tumors: An infantile case with leptomeningeal dissemination.

    Published in:
    Brain Pathology, 2021, v. 31, n. 3, p. 1, doi. 10.1111/bpa.12934
    By:
    • Rossi, Sabrina;
    • Barresi, Sabina;
    • Giovannoni, Isabella;
    • Alesi, Viola;
    • Ciolfi, Andrea;
    • Colafati, Giovanna Stefania;
    • Diomedi‐Camassei, Francesca;
    • Miele, Evelina;
    • Cacchione, Antonella;
    • Quacquarini, Denise;
    • Carai, Andrea;
    • Tartaglia, Marco;
    • Giannini, Caterina;
    • Giangaspero, Felice;
    • Mastronuzzi, Angela;
    • Alaggio, Rita
    Publication type:
    Article
    42

    Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.

    Published in:
    Nature Genetics, 2015, v. 47, n. 6, p. 661, doi. 10.1038/ng.3282
    By:
    • Kortüm, Fanny;
    • Kutsche, Kerstin;
    • Korenke, Georg Christoph;
    • Leuzzi, Vincenzo;
    • Mowat, David;
    • Nair, Lal D V;
    • Nguyen, Thi Tuyet Mai;
    • Thierry, Patrick;
    • White, Susan M;
    • Campeau, Philippe M;
    • Tartaglia, Marco;
    • Caputo, Viviana;
    • Pizzuti, Antonio;
    • Bauer, Christiane K;
    • Stella, Lorenzo;
    • Bocchinfuso, Gianfranco;
    • Ciolfi, Andrea;
    • Flex, Elisabetta;
    • Alawi, Malik;
    • Paolacci, Stefano
    Publication type:
    Article
    43

    Corrigendum: Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.

    Published in:
    2007
    By:
    • Tartaglia, Marco;
    • Pennacchio, Len A;
    • Zhao, Chen;
    • Yadav, Kamlesh K;
    • Fodale, Valentina;
    • Sarkozy, Anna;
    • Pandit, Bhaswati;
    • Oishi, Kimihiko;
    • Martinelli, Simone;
    • Schackwitz, Wendy;
    • Ustaszewska, Anna;
    • Martin, Joel;
    • Bristow, James;
    • Carta, Claudio;
    • Lepri, Francesca;
    • Neri, Cinzia;
    • Vasta, Isabella;
    • Gibson, Kate;
    • Curry, Cynthia J;
    • Siguero, Juan Pedro López
    Publication type:
    Correction Notice
    44

    Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.

    Published in:
    Nature Genetics, 2007, v. 39, n. 1, p. 75, doi. 10.1038/ng1939
    By:
    • Tartaglia, Marco;
    • Pennacchio, Len A.;
    • Zhao, Chen;
    • Yadav, Kamlesh K.;
    • Fodale, Valentina;
    • Sarkozy, Anna;
    • Pandit, Bhaswati;
    • Oishi, Kimihiko;
    • Martinelli, Simone;
    • Schackwitz, Wendy;
    • Ustaszewska, Anna;
    • Martin, Joel;
    • Bristow, James;
    • Carta, Claudio;
    • Lepri, Francesca;
    • Neri, Cinzia;
    • Vasta, Isabella;
    • Gibson, Kate;
    • Curry, Cynthia J.;
    • Siguero, Juan Pedro López
    Publication type:
    Article
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    Missense Mutation in the Transcription Factor NKX2–5: A Novel Molecular Event in the Pathogenesis of Thyroid Dysgenesis.

    Published in:
    Journal of Clinical Endocrinology & Metabolism, 2006, v. 91, n. 4, p. 1428, doi. 10.1210/jc.2005-1350
    By:
    • Dentice, Monica;
    • Cordeddu, Viviana;
    • Rosica, Annamaria;
    • Ferrara, Alfonso Massimiliano;
    • Santarpia, Libero;
    • Salvatore, Domenico;
    • Chiovato, Luca;
    • Perri, Anna;
    • Moschini, Lidia;
    • Fazzini, Cristina;
    • Olivieri, Antonella;
    • Costa, Pietro;
    • Stoppioni, Vera;
    • Baserga, Mariangiola;
    • De Felice, Mario;
    • Sorcini, Mariella;
    • Fenzi, Gianfranco;
    • Di Lauro, Roberto;
    • Tartaglia, Marco;
    • Macchia, Paolo Emidio
    Publication type:
    Article
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