Works by Gasparini, Paolo

Results: 157
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    Probabilistic GIS-based method for delineation of urban flooding risk hotspots.

    Published in:
    Natural Hazards, 2014, v. 73, n. 2, p. 975, doi. 10.1007/s11069-014-1119-2
    By:
    • Jalayer, Fatemeh;
    • Risi, Raffaele;
    • Paola, Francesco;
    • Giugni, Maurizio;
    • Manfredi, Gaetano;
    • Gasparini, Paolo;
    • Topa, Maria;
    • Yonas, Nebyou;
    • Yeshitela, Kumelachew;
    • Nebebe, Alemu;
    • Cavan, Gina;
    • Lindley, Sarah;
    • Printz, Andreas;
    • Renner, Florian
    Publication type:
    Article
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    Genetic Evaluation of Prelingual Hearing Impairment: Recommendations of an European Network for Genetic Hearing Impairment.

    Published in:
    Audiology Research, 2023, v. 13, n. 3, p. 341, doi. 10.3390/audiolres13030029
    By:
    • Jonard, Laurence;
    • Brotto, Davide;
    • Moreno-Pelayo, Miguel A.;
    • del Castillo, Ignacio;
    • Kremer, Hannie;
    • Pennings, Ronald;
    • Caria, Helena;
    • Fialho, Graça;
    • Boudewyns, An;
    • Van Camp, Guy;
    • Ołdak, Monika;
    • Oziębło, Dominika;
    • Deggouj, Naïma;
    • De Siati, Romolo Daniele;
    • Gasparini, Paolo;
    • Girotto, Giorgia;
    • Verstreken, Margriet;
    • Dossena, Silvia;
    • Roesch, Sebastian;
    • Battelino, Saba
    Publication type:
    Article
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    Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation.

    Published in:
    Journal of Neurology, 2005, v. 252, n. 8, p. 897, doi. 10.1007/s00415-005-0766-3
    By:
    • Coppola, Giovanni;
    • Criscuolo, Chiara;
    • de Michele, Giuseppe;
    • Striano, Salvatore;
    • Barbieri, Fabrizio;
    • Striano, Pasquale;
    • Perretti, Anna;
    • Santoro, Lucio;
    • Morra, Vincenzo Brescia;
    • Saccà, Francesco;
    • Scarano, Valentina;
    • D'Adamo, Adamo P.;
    • Banfi, Sandro;
    • Gasparini, Paolo;
    • Santorelli, Filippo M.;
    • Lehesjoki, Anna E.;
    • Filla, Alessandro
    Publication type:
    Article
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    Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire.

    Published in:
    Human Genetics, 2015, v. 134, n. 6, p. 613, doi. 10.1007/s00439-015-1542-9
    By:
    • Rusconi, Daniela;
    • Negri, Gloria;
    • Colapietro, Patrizia;
    • Picinelli, Chiara;
    • Milani, Donatella;
    • Spena, Silvia;
    • Magnani, Cinzia;
    • Silengo, Margherita;
    • Sorasio, Lorena;
    • Curtisova, Vaclava;
    • Cavaliere, Maria;
    • Prontera, Paolo;
    • Stangoni, Gabriela;
    • Ferrero, Giovanni;
    • Biamino, Elisa;
    • Fischetto, Rita;
    • Piccione, Maria;
    • Gasparini, Paolo;
    • Salviati, Leonardo;
    • Selicorni, Angelo
    Publication type:
    Article
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    MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion.

    Published in:
    Nature Genetics, 2006, v. 38, n. 5, p. 570, doi. 10.1038/ng1765
    By:
    • Spinazzola, Antonella;
    • Viscomi, Carlo;
    • Fernandez-Vizarra, Erika;
    • Carrara, Franco;
    • D'Adamo, Pio;
    • Calvo, Sarah;
    • Marsano, René Massimiliano;
    • Donnini, Claudia;
    • Weiher, Hans;
    • Strisciuglio, Pietro;
    • Parini, Rossella;
    • Sarzi, Emmanuelle;
    • Chan, Alicia;
    • DiMauro, Salvatore;
    • Rötig, Agnes;
    • Gasparini, Paolo;
    • Ferrero, Iliana;
    • Mootha, Vamsi K.;
    • Tiranti, Valeria;
    • Zeviani, Massimo
    Publication type:
    Article
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    The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome.

    Published in:
    Nature Genetics, 2001, v. 27, n. 2, p. 159, doi. 10.1038/84781
    By:
    • Crisponi, Laura;
    • Deiana, Manila;
    • Loi, Angela;
    • Chiappe, Francesca;
    • Uda, Manuela;
    • Amati, Patrizia;
    • Bisceglia, Luigi;
    • Zelante, Leopoldo;
    • Nagaraja, Ramaiah;
    • Porcu, Susanna;
    • Serafina Ristaldi, M.;
    • Marzella, Rosalia;
    • Rocchi, Mariano;
    • Nicolino, Marc;
    • Lienhardt-Roussie, Anne;
    • Nivelon, Annie;
    • Verloes, Alain;
    • Schlessinger, David;
    • Gasparini, Paolo
    Publication type:
    Article
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    Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus.

    Published in:
    Nature Genetics, 1999, v. 23, n. 1, p. 16, doi. 10.1038/12612
    By:
    • Grifa, Anna;
    • Wagner, Carsten A.;
    • D'Ambrosio, Lucrezia;
    • Melchionda, Salvatore;
    • Bernardi, Francesco;
    • Lopez-Bigas, Nuria;
    • Rabionet, Raquel;
    • Arbones, Mariona;
    • Monica, Matteo Della;
    • Estivill, Xavier;
    • Zelante, Leopoldo;
    • Lang, Florian;
    • Gasparini, Paolo
    Publication type:
    Article
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    Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients.

    Published in:
    Journal of Molecular Medicine, 2002, v. 80, n. 2, p. 124, doi. 10.1007/s00109-001-0310-6
    By:
    • Wattenhofer, Marie;
    • Di Iorio, Mario;
    • Rabionet, Raquel;
    • Dougherty, Loretta;
    • Pampanos, Andreas;
    • Schwede, Torsten;
    • Montserrat-Sentis, Barbara;
    • Arbones, Maria;
    • Iliades, Theofilos;
    • Pasquadibisceglie, Annamaria;
    • D'Amelio, Marcello;
    • Alwan, Sura;
    • Rossier, Colette;
    • Dahl, Hans-Henrik M.;
    • Petersen, Michael B.;
    • Estivill, Xavier;
    • Gasparini, Paolo;
    • Scott, Hamish S.;
    • Antonarakis, Stylianos E.
    Publication type:
    Article
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    TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition.

    Published in:
    American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2652, doi. 10.1002/ajmg.a.62852
    By:
    • Musante, Luciana;
    • Faletra, Flavio;
    • Meier, Kolja;
    • Tomoum, Hoda;
    • Najarzadeh Torbati, Paria;
    • Blair, Edward;
    • North, Sally;
    • Gärtner, Jutta;
    • Diegmann, Susann;
    • Beiraghi Toosi, Mehran;
    • Ashrafzadeh, Farah;
    • Ghayoor Karimiani, Ehsan;
    • Murphy, David;
    • Murru, Flora Maria;
    • Zanus, Caterina;
    • Magnolato, Andrea;
    • La Bianca, Martina;
    • Feresin, Agnese;
    • Girotto, Giorgia;
    • Gasparini, Paolo
    Publication type:
    Article
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    Mutations in PLS1, encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss.

    Published in:
    Human Mutation, 2019, v. 40, n. 12, p. 2286, doi. 10.1002/humu.23891
    By:
    • Morgan, Anna;
    • Koboldt, Daniel C.;
    • Barrie, Elizabeth S.;
    • Crist, Erin R.;
    • García García, Gema;
    • Mezzavilla, Massimo;
    • Faletra, Flavio;
    • Mihalic Mosher, Theresa;
    • Wilson, Richard K.;
    • Blanchet, Catherine;
    • Manickam, Kandamurugu;
    • Roux, Anne‐Francoise;
    • Gasparini, Paolo;
    • Dell'Orco, Daniele;
    • Girotto, Giorgia
    Publication type:
    Article