Found: 18

Select item for more details and to access through your institution.

  • An atypical 7q11.23 deletion in a normal IQ Williams–Beuren syndrome patient.

    Published in:
    European Journal of Human Genetics, 2010, v. 18, n. 1, p. 33, doi. 10.1038/ejhg.2009.108
    By:
    • Ferrero, Giovanni Battista;
    • Howald, Cédric;
    • Micale, Lucia;
    • Biamino, Elisa;
    • Augello, Bartolomeo;
    • Fusco, Carmela;
    • Turturo, Maria Giuseppina;
    • Forzano, Serena;
    • Reymond, Alexandre;
    • Merla, Giuseppe
    Publication type:
    Article

  • 7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages.

    Published in:
    Nature Genetics, 2015, v. 47, n. 2, p. 132, doi. 10.1038/ng.3169
    By:
    • Adamo, Antonio;
    • Atashpaz, Sina;
    • Germain, Pierre-Luc;
    • McKay, Ronald;
    • Fusco, Carmela;
    • Donti, Emilio;
    • D'Agostino, Giuseppe;
    • Chenoweth, Josh;
    • Micale, Lucia;
    • Palumbo, Orazio;
    • Unger, Christian;
    • Prontera, Paolo;
    • Pruneri, Giancarlo;
    • Augello, Bartolomeo;
    • Carella, Massimo;
    • Merla, Giuseppe;
    • Biamino, Elisa;
    • Testa, Giuseppe;
    • Zanella, Matteo;
    • Albertin, Veronica
    Publication type:
    Article

  • Metabolic progression to clinical phenotype in classic Fabry disease.

    Published in:
    Italian Journal of Pediatrics, 2017, v. 43, p. 1, doi. 10.1186/s13052-016-0320-1
    By:
    • Spada, Marco;
    • Kasper, David;
    • Pagliardini, Veronica;
    • Biamino, Elisa;
    • Giachero, Silvana;
    • Porta, Francesco
    Publication type:
    Article

  • Onset of treatment-resistant schizophrenia in an adolescent with undiagnosed autism.

    Published in:
    Minerva Psychiatry, 2021, v. 62, n. 2, p. 107, doi. 10.23736/S2724-6612.20.02142-1
    By:
    • KELLER, Roberto;
    • CARLI, Diana;
    • BRIGHENTI, Stefania;
    • SALERNO, Luana;
    • BIAMINO, Elisa;
    • RAINÒ, Elena;
    • VITIELLO, Benedetto;
    • FERRERO, Giovanni B.
    Publication type:
    Article

  • A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity.

    Published in:
    American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2016, v. 171B, n. 2, p. 290, doi. 10.1002/ajmg.b.32406
    By:
    • Biamino, Elisa;
    • Di Gregorio, Eleonora;
    • Belligni, Elga Fabia;
    • Keller, Roberto;
    • Riberi, Evelise;
    • Gandione, Marina;
    • Calcia, Alessandro;
    • Mancini, Cecilia;
    • Giorgio, Elisa;
    • Cavalieri, Simona;
    • Pappi, Patrizia;
    • Talarico, Flavia;
    • Fea, Antonio M.;
    • De Rubeis, Silvia;
    • Cirillo Silengo, Margherita;
    • Ferrero, Giovanni Battista;
    • Brusco, Alfredo
    Publication type:
    Article

  • Early higher dosage of alglucosidase alpha in classic Pompe disease.

    Published in:
    Journal of Pediatric Endocrinology & Metabolism, 2018, v. 31, n. 12, p. 1343, doi. 10.1515/jpem-2018-0336
    By:
    • Spada, Marco;
    • Pagliardini, Veronica;
    • Ricci, Federica;
    • Biamino, Elisa;
    • Mongini, Tiziana;
    • Porta, Francesco
    Publication type:
    Article

  • 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

  • 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

  • Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG).

    Published in:
    Cerebellum, 2021, v. 20, n. 4, p. 596, doi. 10.1007/s12311-021-01242-x
    By:
    • Pettinato, Fabio;
    • Mostile, Giovanni;
    • Battini, Roberta;
    • Martinelli, Diego;
    • Madeo, Annalisa;
    • Biamino, Elisa;
    • Frattini, Daniele;
    • Garozzo, Domenico;
    • Gasperini, Serena;
    • Parini, Rossella;
    • Sirchia, Fabio;
    • Sortino, Giuseppe;
    • Sturiale, Luisa;
    • Matthijs, Gert;
    • Morrone, Amelia;
    • Di Rocco, Maja;
    • Rizzo, Renata;
    • Jaeken, Jaak;
    • Fiumara, Agata;
    • Barone, Rita
    Publication type:
    Article

  • Remittent hyperammonemia in congenital portosystemic shunt.

    Published in:
    2010
    By:
    • Ferrero, Giovanni Battista;
    • Porta, Francesco;
    • Biamino, Elisa;
    • Mussa, Alessandro;
    • Garelli, Emanuela;
    • Chiappe, Francesca;
    • Veltri, Andrea;
    • Silengo, Margherita Cirillo;
    • Gennari, Fabrizio
    Publication type:
    journal article

  • Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders.

    Published in:
    Human Mutation, 2022, v. 43, n. 11, p. 1609, doi. 10.1002/humu.24446
    By:
    • Levy, Michael A.;
    • Relator, Raissa;
    • McConkey, Haley;
    • Pranckeviciene, Erinija;
    • Kerkhof, Jennifer;
    • Barat‐Houari, Mouna;
    • Bargiacchi, Sara;
    • Biamino, Elisa;
    • Palomares Bralo, María;
    • Cappuccio, Gerarda;
    • Ciolfi, Andrea;
    • Clarke, Angus;
    • DuPont, Barbara R.;
    • Elting, Mariet W.;
    • Faivre, Laurence;
    • Fee, Timothy;
    • Ferilli, Marco;
    • Fletcher, Robin S.;
    • Cherick, Florian;
    • Foroutan, Aidin
    Publication type:
    Article

  • Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome Patients.

    Published in:
    Human Mutation, 2014, v. 35, n. 7, p. 841, doi. 10.1002/humu.22547
    By:
    • Micale, Lucia;
    • Augello, Bartolomeo;
    • Maffeo, Claudia;
    • Selicorni, Angelo;
    • Zucchetti, Federica;
    • Fusco, Carmela;
    • De Nittis, Pasquelena;
    • Pellico, Maria Teresa;
    • Mandriani, Barbara;
    • Fischetto, Rita;
    • Boccone, Loredana;
    • Silengo, Margherita;
    • Biamino, Elisa;
    • Perria, Chiara;
    • Sotgiu, Stefano;
    • Serra, Gigliola;
    • Lapi, Elisabetta;
    • Neri, Marcella;
    • Ferlini, Alessandra;
    • Cavaliere, Maria Luigia
    Publication type:
    Article

  • Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams-Beuren Syndrome.

    Published in:
    Journal of the American Heart Association, 2024, v. 13, n. 3, p. 1, doi. 10.1161/JAHA.123.031377
    By:
    • Delong Liu;
    • Billington Jr, Charles J.;
    • Raja, Neelam;
    • Wong, Zoe C.;
    • Levin, Mark D.;
    • Resch, Wulfgang;
    • Alba, Camille;
    • Hupalo, Daniel N.;
    • Biamino, Elisa;
    • Bedeschi, Maria Francesca;
    • Digilio, Maria Cristina;
    • Squeo, Gabriella Maria;
    • Villa, Roberta;
    • Parrish, Pheobe C. R.;
    • Knutsen, Russell H.;
    • Osgood, Sharon;
    • Freeman, Joy A.;
    • Dalgard, Clifton L.;
    • Merla, Giuseppe;
    • Pober, Barbara R.
    Publication type:
    Article

  • Cover Image, Volume 170A, Number 7, July 2016.

    Published in:
    2016
    By:
    • Giorgio, Elisa;
    • Ciolfi, Andrea;
    • Biamino, Elisa;
    • Caputo, Viviana;
    • Di Gregorio, Eleonora;
    • Belligni, Elga Fabia;
    • Calcia, Alessandro;
    • Gaidolfi, Elena;
    • Bruselles, Alessandro;
    • Mancini, Cecilia;
    • Cavalieri, Simona;
    • Molinatto, Cristina;
    • Cirillo Silengo, Margherita;
    • Ferrero, Giovanni Battista;
    • Tartaglia, Marco;
    • Brusco, Alfredo
    Publication type:
    Other

  • Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1772, doi. 10.1002/ajmg.a.37649
    By:
    • Giorgio, Elisa;
    • Ciolfi, Andrea;
    • Biamino, Elisa;
    • Caputo, Viviana;
    • Di Gregorio, Eleonora;
    • Belligni, Elga Fabia;
    • Calcia, Alessandro;
    • Gaidolfi, Elena;
    • Bruselles, Alessandro;
    • Mancini, Cecilia;
    • Cavalieri, Simona;
    • Molinatto, Cristina;
    • Cirillo Silengo, Margherita;
    • Ferrero, Giovanni Battista;
    • Tartaglia, Marco;
    • Brusco, Alfredo
    Publication type:
    Article

  • Progressive extreme heterotopic calcification.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1706, doi. 10.1002/ajmg.a.35944
    By:
    • Silengo, Margherita;
    • Defilippi, Claudio;
    • Belligni, Elga;
    • Biamino, Elisa;
    • Flex, Elisabetta;
    • Brusco, Alfredo;
    • Ferrero, Giovanni Battista;
    • Tartaglia, Marco;
    • Hennekam, Raoul C.
    Publication type:
    Article

  • Playing competitive basketball in face of late-onset pompe disease.

    Published in:
    Muscle & Nerve, 2015, v. 51, n. 2, p. 302, doi. 10.1002/mus.24522
    By:
    • Porta, Francesco;
    • Pagliardini, Veronica;
    • Roasio, Luca;
    • Biamino, Elisa;
    • Spada, Marco
    Publication type:
    Article

  • PIGN encephalopathy: Characterizing the epileptology.

    Published in:
    Epilepsia (Series 4), 2022, v. 63, n. 4, p. 974, doi. 10.1111/epi.17173
    By:
    • Bayat, Allan;
    • de Valles‐Ibáñez, Guillem;
    • Pendziwiat, Manuela;
    • Knaus, Alexej;
    • Alt, Kerstin;
    • Biamino, Elisa;
    • Bley, Annette;
    • Calvert, Sophie;
    • Carney, Patrick;
    • Caro‐Llopis, Alfonso;
    • Ceulemans, Berten;
    • Cousin, Janice;
    • Davis, Suzanne;
    • des Portes, Vincent;
    • Edery, Patrick;
    • England, Eleina;
    • Ferreira, Carlos;
    • Freeman, Jeremy;
    • Gener, Blanca;
    • Gorce, Magali
    Publication type:
    Article