RUSCONI, DANIELA
RUSCONI, DANIELA
Dipartimento di Scienze della Salute
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
AHSP (Alpha Hemoglobin Stabilizing Protein) Gene Expression during Normal and ß-Thalassemic Erythroid Differentiation
2006 L. Ronzoni, I.V. Libani, G. Giribaldi, F. Turrini, D. Rusconi, C. Refaldi, M.D. Cappellini
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
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
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
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
Complex de novo chromosomal rearrangement at 15q11-q13 involving an intrachromosomal triplication in a patient with a severe neuropsychological phenotype: Clinical report and review of the literature.
2015 C. Castronovo, M. Crippa, I. Bestetti, D. Rusconi, S. Russo, L. Larizza, R. Sangermani, M. Bonati, P. Finelli
DELEZIONI IN 16p13.2 COINVOLGENTI TOTALMENTE O PARZIALMENTE IL GENE CREBBP IN PAZIENTI CON SINDROME DI RUBINSTEIN-TAYBI
2013 C. Gervasini, D. Rusconi, P. Colapietro, S. Spena, C. Picinelli, G. Negri, D. Milani, A. Selicorni, P. Finelli, L. Larizza
Design and validation of a pericentromeric BAC clone set aimed at improving diagnosis and phenotype prediction of supernumerary marker chromosomes
2013 C. Castronovo, E. Valtorta, M. Crippa, S. Tedoldi, L. Romitti, M.C. Amione, S. Guerneri, D. Rusconi, L. Ballarati, D. Milani, E. Grosso, P. Cavalli, D. Giardino, M.T. Bonati, L. Larizza, P. Finelli
Erythroid differentiation and maturation from peripheral CD34+ cells in liquid culture : cellular and molecular characterization
2008 L. Ronzoni, P. Bonara, D. Rusconi, C. Frugoni, I. Libani, M.D. Cappellini.
Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome
2015 M. Crippa, D. Rusconi, C. Castronovo, I. Bestetti, S. Russo, A. Cereda, A. Selicorni, L. Larizza, P. Finelli
From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients : New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks
2016 G. Negri, P. Magini, D. Milani, P. Colapietro, D. Rusconi, E. Scarano, M.T. Bonati, M. Priolo, M. Crippa, L. Mazzanti, A. Wischmeijer, F. Tamburrino, T. Pippucci, P. Finelli, L. Larizza, C. Gervasini
Gene dosage as a relevant mechanism contributing to the determination of ovarian function in Turner syndrome
2014 C. Castronovo, R. Rossetti, D. Rusconi, M.P. Recalcati, C. Cacciatore, E. Beccaria, V. Calcaterra, P. Invernizzi, D. Larizza, P. Finelli, L. Persani
Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome
2013 C. Gervasini, C. Picinelli, J. Azzollini, D. Rusconi, M. Masciadri, A. Cereda, C. Marzocchi, G. Zampino, A. Selicorni, R. Tenconi, S. Russo, L. Larizza, P. Finelli
Identification of balanced 4p16 paracentric inversions in three patients with Wolf-Hirschhorn phenotype not deleted for the WHS critical region
2011 P. Finelli, M. Crippa, E. Valtorta, C. Castronovo, M. Masciadri, S. Russo, M. Recalcati, D. Rusconi, D. Giardino, M. Bonati, F. Natacci, P. Castelluccio, L. Larizza
Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi Syndrome patients
2015 S. Spena, D. Milani, D. Rusconi, G. Negri, P. Colapietro, N. Elcioglu, F. Bedeschi, A. Pilotta, L. Spaccini, A. Ficcadenti, C. Magnani, G. Scarano, A. Selicorni, L. Larizza, C. Gervasini
Juxtaposition of heterochromatic and euchromatic regions by chromosomal translocation mediates a heterochromatic long-range position effect associated with a severe neurological phenotype
2012 P. Finelli, S. Sirchia, M. Masciadri, M. Crippa, M. Recalcati, D. Rusconi, D. Giardino, L. Monti, F. Cogliati, F. Faravelli, F. Natacci, L. Zoccante, B. Bernardina, S. Russo, L. Larizza
NEW POINTMUTATIONS AND EXON DELETIONS OF THE EP300 GENE IN PATIENTS WITH RUBINSTEIN-TAYBI SYNDROME
2013 G. Negri, P. Colapietro, F. Forzano, D. Rusconi, D. Milani, L. Consonni, L.G. Caffi, F. Faravelli, P. Finelli, A. Selicorni, S. Spena, L. Larizza, C. Gervasini
NSD1 intragenic deletion in a patient with Sotos/5q subtelomeric deletion syndrome combined phenotype without 5q35.3 deletion
2009 C. Castronovo, D. Rusconi, C. Gervasini, D. Milani, A. Cereda, L. Larizza, A. Selicorni, P. Finelli
Nuova delezione intragenica in NSD1 in un paziente che presenta fenotipo composto Sotos/delezione subtelomerica 5q
2009 C. Castronovo, D. Rusconi, M. Crippa, C. Gervasini, D. Milani, A. Cereda, D. Giardino, L. Larizza, A. Selicorni, P. Finelli