SIRONI, ALESSANDRA
SIRONI, ALESSANDRA
Universita' degli Studi di MILANO
Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome
2022 I. Bestetti, M. Crippa, A. Sironi, F. Tumiatti, M. Masciadri, M.F. Smeland, S. Naik, O. Murch, M.T. Bonati, A. Spano, E. Cattaneo, M. Mariani, F. Gotta, F. Crosti, P. Cavalli, C. Pantaleoni, F. Natacci, M.F. Bedeschi, D. Milani, S. Maitz, A. Selicorni, L. Spaccini, A. Peron, S. Russo, L. Larizza, K. Low, P. Finelli
Smith-Magenis syndrome-Clinical review, biological background and related disorders
2022 B. Rinaldi, R. Villa, A. Sironi, L. Garavelli, P. Finelli, M. Francesca Bedeschi
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
Targeted whole exome sequencing and Drosophila modelling to unveil the molecular basis of primary ovarian insufficiency
2021 I. Bestetti, C. Barbieri, A. Sironi, V. Specchia, S.A. Yatsenko, M.D. De Donno, C. Caslini, D. Gentilini, M. Crippa, L. Larizza, A. Marozzi, A. Rajkovic, D. Toniolo, M.P. Bozzetti, P. Finelli
UNVEILING MOLECULAR PATHWAYS DISRUPTED IN SMS AND SMS-LIKE PATIENTS BY MEANS OF GENOMIC AND FUNCTIONAL APPROACHES
2020 A. Sironi
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
Molecular Etiology Disclosed by Array CGH in Patients With Silver–Russell Syndrome or Similar Phenotypes
2019 M. Crippa, M.T. Bonati, L. Calzari, C. Picinelli, C. Gervasini, A. Sironi, I. Bestetti, S. Guzzetti, S. Bellone, A. Selicorni, A. Mussa, A. Riccio, G.B. Ferrero, S. Russo, L. Larizza, P. Finelli
High-resolution array-CGH analysis on 46,XX patients affected by early onset primary ovarian insufficiency discloses new genes involved in ovarian function
2019 I. Bestetti, C. Castronovo, A. Sironi, C. Caslini, C. Sala, R. Rossetti, M. Crippa, I. Ferrari, A. Pistocchi, D. Toniolo, L. Persani, A. Marozzi, P. Finelli
RAI1 intragenic deletion and concomitant overexpression in a syndromic patient: Smith-Magenis or Potocki-Lupski syndrome?
2018 A. Sironi, I. Bestetti, C. Boninsegna, M. Masciadri, S. Russo, C. Pantaleoni, S. D'Arrigo, L. Larizza, P. Finelli
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
Segmental Maternal UPD of Chromosome 7q in a Patient With Pendred and Silver Russell Syndromes-Like Features
2018 V. Cirello, V. Giorgini, C. Castronovo, S. Marelli, E. Mainini, A. Sironi, M. Recalcati, M. Pessina, D. Giardino, L. Larizza, L. Persani, P. Finelli, S. Russo, L. Fugazzola
Rothmund-Thomson syndrome: Insights from new patients on the genetic variability underpinning clinical presentation and cancer outcome
2018 E.A. Colombo, A. Locatelli, L. Cubells Sánchez, S. Romeo, N.H. Elcioglu, I. Maystadt, A.E. Martínez, A. Sironi, L. Fontana, P. Finelli, C. Gervasini, V. Pecile, L. Larizza
iPSC-derived neurons of CREBBP- and EP300-mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitability
2018 V. Alari, S. Russo, B. Terragni, P.F. Ajmone, A. Sironi, I. Catusi, L. Calzari, D. Concolino, R. Marotta, D. Milani, D. Giardino, M. Mantegazza, C. Gervasini, P. Finelli, L. Larizza
Microdeletion in two unrelated patients with intellectual disability
2016 M. Sciarrillo, A. Sironi, I. Bestetti, D. Milani, L. Larizza, P. Finelli
MBD5 molecular screening on Smith Magenis-like Syndrome patients without the typical 17p11.2 deletion
2016 M. Sciarrillo, C. Picinelli, I. Bestetti, A. Sironi, N. Kurtas, E. Ponti, A. Mihalich, L. Spaccini, M. Bedeschi, C. Pantaleoni, S. Maitz, A. Selicorni, D. Milani, L. Larizza, P. Finelli
Submicroscopic genomic alterations detected by array CGH analysis in a cohort of patients with Silver Russell syndrome found negative to classical genetic and epigenetic tests
2014 M. Crippa, C. Picinelli, S. Galletti, A. Sironi, L. Calzari, C. Castronovo, M. Cisternino, G.B. Ferrero, A. Riccio, A. Selicorni, M.T. Bonati, S. Russo, L. Larizza, P. Finelli
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