Works matching AU Seri, Marco

Results: 110
    1

    Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR‐DSCR) on human chromosome 21.

    Published in:
    Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 8, p. N.PAG, doi. 10.1002/mgg3.797
    By:
    • Pelleri, Maria Chiara;
    • Cicchini, Elena;
    • Petersen, Michael B.;
    • Tranebjærg, Lisbeth;
    • Mattina, Teresa;
    • Magini, Pamela;
    • Antonaros, Francesca;
    • Caracausi, Maria;
    • Vitale, Lorenza;
    • Locatelli, Chiara;
    • Seri, Marco;
    • Strippoli, Pierluigi;
    • Piovesan, Allison;
    • Cocchi, Guido
    Publication type:
    Article
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    miRNA–221 and miRNA–483–3p Dysregulation in Esophageal Adenocarcinoma.

    Published in:
    Cancers, 2024, v. 16, n. 3, p. 591, doi. 10.3390/cancers16030591
    By:
    • Bozzarelli, Isotta;
    • Orsini, Arianna;
    • Isidori, Federica;
    • Mastracci, Luca;
    • Malvi, Deborah;
    • Lugaresi, Marialuisa;
    • Fittipaldi, Silvia;
    • Gozzellino, Livia;
    • Astolfi, Annalisa;
    • Räsänen, Jari;
    • D'Errico, Antonia;
    • Rosati, Riccardo;
    • Fiocca, Roberto;
    • Seri, Marco;
    • Krishnadath, Kausilia K.;
    • Bonora, Elena;
    • Mattioli, Sandro
    Publication type:
    Article
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    Identification of BRCA1/2 p.Ser1613Gly, p.Pro871Leu, p.Lys1183Arg, p.Glu1038Gly, p.Ser1140Gly, p.Ala2466Val, p.His2440Arg variants in women under 45 years old with breast nodules suspected of having breast cancer in Burkina Faso.

    Published in:
    Biomolecular Concepts, 2019, v. 10, n. 1, p. 120, doi. 10.1515/bmc-2019-0015
    By:
    • Sagna, Tani;
    • Bonora, Elena;
    • Lamoussa Ouedraogo, Marie Nabonswindé;
    • Fusco, Daniela;
    • Zoure, Abdou Azaque;
    • Bisseye, Cyrille;
    • Djigma, Florencia;
    • Kafando, Jacques Gilbert;
    • Zongo, Nayi;
    • Douamba, Zoenabo;
    • Obiri-Yeboah, Dorcas;
    • Turchetti, Daniela;
    • Pietra, Virginio;
    • Lompo, Olga Melanie;
    • Ouedraogo, Charlemagne;
    • Seri, Marco;
    • Simpore, Jacques
    Publication type:
    Article
    8

    EXCAVATOR: detecting copy number variants from whole-exome sequencing data.

    Published in:
    Genome Biology, 2013, v. 14, n. 10, p. 3, doi. 10.1186/gb-2013-14-10-r120
    By:
    • Magi, Alberto;
    • Tattini, Lorenzo;
    • Cifola, Ingrid;
    • D'Aurizio, Romina;
    • Benelli, Matteo;
    • Mangano, Eleonora;
    • Battaglia, Cristina;
    • Bonora, Elena;
    • Kurg, Ants;
    • Seri, Marco;
    • Magini, Pamela;
    • Giusti, Betti;
    • Romeo, Giovanni;
    • Pippucci, Tommaso;
    • Bellis, Gianluca De;
    • Abbate, Rosanna;
    • Gensini, Gian Franco
    Publication type:
    Article
    9

    An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder.

    Published in:
    Journal of Cellular & Molecular Medicine, 2021, v. 25, n. 5, p. 2459, doi. 10.1111/jcmm.16161
    By:
    • Cameli, Cinzia;
    • Viggiano, Marta;
    • Rochat, Magali J.;
    • Maresca, Alessandra;
    • Caporali, Leonardo;
    • Fiorini, Claudio;
    • Palombo, Flavia;
    • Magini, Pamela;
    • Duardo, Renée C.;
    • Ceroni, Fabiola;
    • Scaduto, Maria C.;
    • Posar, Annio;
    • Seri, Marco;
    • Carelli, Valerio;
    • Visconti, Paola;
    • Bacchelli, Elena;
    • Maestrini, Elena
    Publication type:
    Article
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    Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy.

    Published in:
    EMBO Molecular Medicine, 2015, v. 7, n. 6, p. 848, doi. 10.15252/emmm.201404399
    By:
    • Pippucci, Tommaso;
    • Maresca, Alessandra;
    • Magini, Pamela;
    • Cenacchi, Giovanna;
    • Donadio, Vincenzo;
    • Palombo, Flavia;
    • Papa, Valentina;
    • Incensi, Alex;
    • Gasparre, Giuseppe;
    • Valentino, Maria Lucia;
    • Preziuso, Carmela;
    • Pisano, Annalinda;
    • Ragno, Michele;
    • Liguori, Rocco;
    • Giordano, Carla;
    • Tonon, Caterina;
    • Lodi, Raffaele;
    • Parmeggiani, Antonia;
    • Carelli, Valerio;
    • Seri, Marco
    Publication type:
    Article
    15

    Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients.

    Published in:
    EMBO Molecular Medicine, 2014, v. 6, n. 12, p. 1639, doi. 10.15252/emmm.201404829
    By:
    • Bonora, Elena;
    • Graziano, Claudio;
    • Minopoli, Fiorella;
    • Bacchelli, Elena;
    • Magini, Pamela;
    • Diquigiovanni, Chiara;
    • Lomartire, Silvia;
    • Bianco, Francesca;
    • Vargiolu, Manuela;
    • Parchi, Piero;
    • Marasco, Elena;
    • Mantovani, Vilma;
    • Rampoldi, Luca;
    • Trudu, Matteo;
    • Parmeggiani, Antonia;
    • Battaglia, Agatino;
    • Mazzone, Luigi;
    • Tortora, Giada;
    • Maestrini, Elena;
    • Seri, Marco
    Publication type:
    Article
    16

    Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients.

    Published in:
    EMBO Molecular Medicine, 2014, v. 6, n. 6, p. 795, doi. 10.1002/emmm.201303235
    By:
    • Bonora, Elena;
    • Graziano, Claudio;
    • Minopoli, Fiorella;
    • Bacchelli, Elena;
    • Magini, Pamela;
    • Diquigiovanni, Chiara;
    • Lomartire, Silvia;
    • Bianco, Francesca;
    • Vargiolu, Manuela;
    • Parchi, Piero;
    • Marasco, Elena;
    • Mantovani, Vilma;
    • Rampoldi, Luca;
    • Trudu, Matteo;
    • Parmeggiani, Antonia;
    • Battaglia, Agatino;
    • Mazzone, Luigi;
    • Tortora, Giada;
    • Maestrini, Elena;
    • Seri, Marco
    Publication type:
    Article
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    Mutations of RUNX1 in families with inherited thrombocytopenia.

    Published in:
    American Journal of Hematology, 2017, v. 92, n. 6, p. E86, doi. 10.1002/ajh.24703
    By:
    • De Rocco, Daniela;
    • Melazzini, Federica;
    • Marconi, Caterina;
    • Pecci, Alessandro;
    • Bottega, Roberta;
    • Gnan, Chiara;
    • Palombo, Flavia;
    • Giordano, Paola;
    • Coccioli, Maria Susanna;
    • Glembotsky, Ana C.;
    • Heller, Paula G.;
    • Seri, Marco;
    • Savoia, Anna;
    • Noris, Patrizia
    Publication type:
    Article
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    Weak linkage at 4p16 to predisposition for human neuroblastoma.

    Published in:
    Oncogene, 2002, v. 21, n. 54, p. 8356, doi. 10.1038/sj.onc.1206009
    By:
    • Perri, Patrizia;
    • Longo, Luca;
    • Cusano, Roberto;
    • McConville, Carmel M;
    • Rees, Sally A;
    • Devoto, Marcella;
    • Conte, Massimo;
    • Ferrara, Giovanni Battista;
    • Seri, Marco;
    • Romeo, Giovanni;
    • Tonini, Gian Paolo
    Publication type:
    Article
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    Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders.

    Published in:
    Human Genetics, 2019, v. 138, n. 3, p. 257, doi. 10.1007/s00439-019-01985-y
    By:
    • Negri, Gloria;
    • Magini, Pamela;
    • Milani, Donatella;
    • Crippa, Milena;
    • Biamino, Elisa;
    • Piccione, Maria;
    • Sotgiu, Stefano;
    • Perrìa, Chiara;
    • Vitiello, Giuseppina;
    • Frontali, Marina;
    • Boni, Antonella;
    • Di Fede, Elisabetta;
    • Gandini, Maria Chiara;
    • Colombo, Elisa Adele;
    • Bamshad, Michael J.;
    • Nickerson, Deborah A.;
    • Smith, Joshua D.;
    • Loddo, Italia;
    • Finelli, Palma;
    • Seri, Marco
    Publication type:
    Article
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    ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism.

    Published in:
    2016
    By:
    • Panza, Emanuele;
    • Escamilla-Honrubia, Juan M.;
    • Marco-Marín, Clara;
    • Gougeard, Nadine;
    • De Michele, Giuseppe;
    • Morra, Vincenzo Brescia;
    • Liguori, Rocco;
    • Salviati, Leonardo;
    • Donati, Maria Alice;
    • Cusano, Roberto;
    • Pippucci, Tommaso;
    • Ravazzolo, Roberto;
    • Németh, Andrea H.;
    • Smithson, Sarah;
    • Davies, Sally;
    • Hurst, Jane A.;
    • Bordo, Domenico;
    • Rubio, Vicente;
    • Seri, Marco;
    • Coutelier, Marie
    Publication type:
    Letter
    31

    Narcolepsy is a common phenotype in HSAN IE and ADCA-DN.

    Published in:
    Brain: A Journal of Neurology, 2014, v. 137, n. 6, p. 1643, doi. 10.1093/brain/awu069
    By:
    • Moghadam, Keivan Kaveh;
    • Pizza, Fabio;
    • La Morgia, Chiara;
    • Franceschini, Christian;
    • Tonon, Caterina;
    • Lodi, Raffaele;
    • Barboni, Piero;
    • Seri, Marco;
    • Ferrari, Simona;
    • Liguori, Rocco;
    • Donadio, Vincenzo;
    • Parchi, Piero;
    • Cornelio, Ferdinando;
    • Inzitari, Domenico;
    • Mignarri, Andrea;
    • Capocchi, Giuseppe;
    • Dotti, Maria Teresa;
    • Winkelmann, Juliane;
    • Lin, Ling;
    • Mignot, Emmanuel
    Publication type:
    Article
    32
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    Adult-onset Alexander disease.

    Published in:
    Journal of Neurology, 2008, v. 255, n. 1, p. 24, doi. 10.1007/s00415-007-0654-0
    By:
    • Balbi, Pietro;
    • Seri, Marco;
    • Ceccherini, Isabella;
    • Uggetti, Carla;
    • Casale, Roberto;
    • Fundarò, Cira;
    • Caroli, Francesco;
    • Santoro, Lucio
    Publication type:
    Article
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    MEFV mutations in Behçet's disease.

    Published in:
    Human Mutation, 2000, v. 16, n. 3, p. 271, doi. 10.1002/1098-1004(200009)16:3<271::AID-HUMU16>3.0.CO;2-A
    By:
    • Touitou, Isabelle;
    • Magne, Xavier;
    • Molinari, Nicolas;
    • Navarro, André;
    • Quellec, Alain Le;
    • Picco, Paolo;
    • Seri, Marco;
    • Ozen, Seza;
    • Bakkaloglu, Aysin;
    • Karaduman, Aysen;
    • Garnier, Jean Marc;
    • Demaille, Jacques;
    • Koné-Paut, Isabelle
    Publication type:
    Article
    39

    Frequency of RET mutations in long- and short-segment Hirschsprung disease.

    Published in:
    Human Mutation, 1997, v. 9, n. 3, p. 243, doi. 10.1002/(SICI)1098-1004(1997)9:3<243::AID-HUMU5>3.0.CO;2-8
    By:
    • Seri, Marco;
    • Yin, Luo;
    • Barone, Virginia;
    • Bolino, Alessandra;
    • Celli, Iacopo;
    • Bocciardi, Renata;
    • Pasini, Barbara;
    • Ceccherini, Isabella;
    • Lerone, Margherita;
    • Kristoffersson, Ulf;
    • Larsson, Lars T.;
    • Casasa, Josep Maria;
    • Cass, Daniel T.;
    • Abramowicz, Marc Joel;
    • Vanderwinden, Jean-Marie;
    • Kravčenkiene, Ingrida;
    • Baric, Ivo;
    • Silengo, Margherita;
    • Martucciello, Giuseppe;
    • Romeo, Giovanni
    Publication type:
    Article
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    Glomerulocystic kidney disease in a family.

    Published in:
    Nephrology Dialysis Transplantation, 2002, v. 17, n. 5, p. 813, doi. 10.1093/ndt/17.5.813
    By:
    • Gusmano, Rosanna;
    • Caridi, Gianluca;
    • Marini, Monica;
    • Perfumo, Francesco;
    • Ghiggeri, Gian Marco;
    • Piaggio, Giorgio;
    • Ceccherini, Isabella;
    • Seri, Marco
    Publication type:
    Article
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    Linkage Analysis in Families with Recurrent Neuroblastoma.

    Published in:
    Annals of the New York Academy of Sciences, 2002, v. 963, n. 1, p. 74, doi. 10.1111/j.1749-6632.2002.tb04097.x
    By:
    • PERRI, PATRIZIA;
    • LONGO, LUCA;
    • McCONVILLE, CARMEL;
    • CUSANO, ROBERTO;
    • REES, SALLY A.;
    • SERI, MARCO;
    • CONTE, MASSIMO;
    • ROMEO, GIOVANNI;
    • DEVOTO, MARCELLA;
    • TONINI, GIAN PAOLO
    Publication type:
    Article
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    Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies.

    Published in:
    Annals of Clinical & Translational Neurology, 2019, v. 6, n. 3, p. 475, doi. 10.1002/acn3.722
    By:
    • Pippucci, Tommaso;
    • Licchetta, Laura;
    • Baldassari, Sara;
    • Marconi, Caterina;
    • De Luise, Monica;
    • Myers, Candace;
    • Nardi, Elena;
    • Provini, Federica;
    • Cameli, Cinzia;
    • Minardi, Raffaella;
    • Bacchelli, Elena;
    • Giordano, Lucio;
    • Crichiutti, Giovanni;
    • d'Orsi, Giuseppe;
    • Seri, Marco;
    • Gasparre, Giuseppe;
    • Mefford, Heather C.;
    • Tinuper, Paolo;
    • Bisulli, Francesca;
    • Bianchi, Amedeo
    Publication type:
    Article
    49

    Epstein-barr virus and gastric cancer: Data and unanswered questions.

    Published in:
    International Journal of Cancer, 1993, v. 53, n. 6, p. 898, doi. 10.1002/ijc.2910530605
    By:
    • Leoncini, Lorenzo;
    • Vindigni, Carla;
    • Megha, Tiziana;
    • Funtò, Ilaria;
    • Pacenti, Lorenzo;
    • Musarò, Mariantonietta;
    • Tosi, Piero;
    • Renieri, Alessandra;
    • Seri, Marco;
    • Anagnostopoulos, Joannes
    Publication type:
    Article
    50

    The impact of schizophrenia genetic load and heavy cannabis use on the risk of psychotic disorder in the EU-GEI case-control and UK Biobank studies.

    Published in:
    Psychological Medicine, 2024, v. 54, n. 15, p. 1, doi. 10.1017/S0033291724002058
    By:
    • Austin-Zimmerman, Isabelle;
    • Spinazzola, Edoardo;
    • Quattrone, Diego;
    • Wu-Choi, Beatrice;
    • Trotta, Giulia;
    • Li, Zhikun;
    • Johnson, Emma;
    • Richards, Alexander L.;
    • Freeman, Tom P.;
    • Tripoli, Giada;
    • Gayer-Anderson, Charlotte;
    • Rodriguez, Victoria;
    • Jongsma, Hannah E.;
    • Ferraro, Laura;
    • Cascia, Caterina La;
    • Tosato, Sarah;
    • Tarricone, Ilaria;
    • Berardi, Domenico;
    • Bonora, Elena;
    • Seri, Marco
    Publication type:
    Article