FINELLI, PALMA
FINELLI, PALMA
Dipartimento di Biotecnologie Mediche e Medicina Traslazionale
13q deletion and CNS anomalies : further insights from karyotype-phenotype analyses of 14 patients
2007 L. Ballarati, E. Rossi, M.T. Bonati, S. Gimelli, P. Maraschio, P. Finelli, S. Giglio, E. Lapi, M.F. Bedeschi, S. Guerneri, G. Arrigo, M.G. Patricelli, T. Mattina, O. Guzzardi, V. Pecile, A. Police, G. Scarano, L. Larizza, O. Zuffardi, D. Giardino
13q mosaic deletion including RB1 associated to mild phenotype and no cancer outcome-case report and review of the literature
2018 I. Bestetti, A. Sironi, I. Catusi, M. Mariani, D. Giardino, S. Manoukian, D. Milani, L. Larizza, C. Castronovo, P. Finelli
9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression
2019 M. Bonati, C. Castronovo, A. Sironi, D. Zimbalatti, I. Bestetti, M. Crippa, A. Novelli, S. Loddo, M. Dentici, J. Taylor, F. Devillard, L. Larizza, P. Finelli
A balanced reciprocal translocation t(10;15)(q22.3;q26.1) interrupting ACAN gene in a family with proportionate short stature
2018 M. Crippa, S. Giangiobbe, R. Villa, I. Bestetti, T. De Filippis, L. Fatti, J. Taurino, L. Larizza, L. Persani, F. Bellini, P. Finelli, M. Bonati
A familial t(4;8) translocation segregates with epilepsy and migraine with aura
2020 M. Crippa, P. Malatesta, M.T. Bonati, F. Trapasso, F. Fortunato, G. Annesi, L. Larizza, A. Labate, P. Finelli, N. Perrotti, A. Gambardella
A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver–Russell and Beckwith–Wiedemann syndromes
2016 S. Russo, L. Calzari, A. Mussa, E. Mainini, M. Cassina, S. Di Candia, M. Clementi, S. Guzzetti, S. Tabano, M. Miozzo, S. Sirchia, P. Finelli, P. Prontera, S. Maitz, G. Sorge, A. Calcagno, M. Maghnie, M.T. Divizia, D. Melis, E. Manfredini, G.B. Ferrero, V. Pecile, L. Larizza
A new structural rearrangement associated to Wolfram syndrome in a child with a partial phenotype
2012 F.M. Elli, S. Ghirardello, C. Giavoli, S. Gangi, L. Dioni, M. Crippa, P. Finelli, S. Bergamaschi, F. Mosca, A. Spada, P. Beck Peccoz
A novel mosaic NSD1 intragenic deletion in a patient with an atypical phenotype
2013 C. Castronovo, D. Rusconi, M. Crippa, D. Giardino, C. Gervasini, D. Milani, A. Cereda, L. Larizza, A. Selicorni, P. Finelli
A panel of subchromosomal painting libraries representing over 300 regions of the human genome
1995 R. Antonacci, R. Marzella, P. Finelli, A. Lonoce, A. Forabosco, N. Archidiacono, M. Rocchi
A unique Smith-Magenis patient with a de novo intragenic deletion on the maternally inherited overexpressed RAI1 allele
2022 A. Sironi, I. Bestetti, M. Masciadri, F. Tumiatti, M. Crippa, C. Pantaleoni, S. Russo, S. D'Arrigo, D. Milani, L. Larizza, P. Finelli
APPROCCI TECNOLOGICI MULTIPLI PER L'IDENTIFICAZIONE DI MUTAZIONI E MECCANISMI PATOGENETICI IN PAZIENTI CON SINDROME DI RUBINSTEIN-TAYBI
2012 C. Gervasini, G. Negri, P. Colapietro, F. Forzano, M. Silengo, C. Picinelli, D. Rusconi, L. Basso Ricci, L. Garavelli, ..R. Tenconi, P. Finelli, S. Spena, L. Larizza
ATRX mutation in two adult brothers with non-specific moderate intellectual disability identified by exome sequencing
2013 S. Moncini, M.F. Bedeschi, P. Castronovo, M. Crippa, M. Calvello, R.R. Garghentino, G. Scuvera, P. Finelli, M. Venturin
Central nervous system developmental disorder in Noonan syndrome: a genomic approach
2014 G. Baldassarre, M. Crippa, F. Dutto, I. Bestetti, A. Mussa, A. Sironi, C. Molinatto, M. Cirillo Silengo, P. Finelli, G.B. Ferrero
Characterisation of complex chromosome 18p rearrangements in two syndromic patients with immunological deficits
2010 M.P. Recalcati, E. Valtorta, L. Romitti, D. Giardino, E. Manfredini, R. Vaccari, L. Larizza, P. Finelli
Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome : an update of the CREBBP deletion repertoire
2015 D. Rusconi, G. Negri, P. Colapietro, C. Picinelli, D. Milani, S. Spena, C. Magnani, M.C. Silengo, L. Sorasio, V. Curtisova, M.L. Cavaliere, P. Prontera, G. Stangoni, G.B. Ferrero, E. Biamino, R. Fischetto, M. Piccione, P. Gasparini, L. Salviati, A. Selicorni, P. Finelli, L. Larizza, C. Gervasini
Characterization of chimpanzee-hamster hybrids by chromosome painting
1994 N. Archidiacono, R. Marzella, P. Finelli, R. Antonacci, C. Jones, M. Rocchi
Characterization of the t(4;14)(p16.3;q32) in the KMS-18 multiple myeloma cell line
2001 D. Ronchetti, S. Bogni, P. Finelli, L. Lombardi, T. Otsuki, A.T. Maiolo, A. Neri
Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene
2015 G. Negri, D. Milani, P. Colapietro, F. Forzano, M. Della Monica, D. Rusconi, L. Consonni, L.G. Caffi, P. Finelli, G. Scarano, C. Magnani, A. Selicorni, S. Spena, L. Larizza, C. Gervasini
Cloning and comparative mapping of a recently evolved human chromosome 22-specific alpha satellite DNA
1994 M. Rocchi, N. Archidiacono, R. Antonacci, P. Finelli, L. D'Aiuto, R. Carbone, E. Lindsay, A. Baldini
Combined characterization of a pituitary adenoma and a subcutaneous lipoma in a MEN1 patient with a whole gene deletion
2011 D. Rusconi, E. Valtorta,O. Rodeschini, D. Giardino, I. Lorenzo, B. Predieri, M. Losa, L. Larizza, P. Finelli