BESTETTI, ILARIA
BESTETTI, ILARIA
Universita' degli Studi di MILANO
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
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
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
Constitutional de novo deletion of the FBXW7 gene in a patient with focal segmental glomerulosclerosis and multiple primitive tumors
2015 G. Roversi, C. Picinelli, I. Bestetti, M. Crippa, D. Perotti, S. Ciceri, F. Saccheri, P. Collini, P.L. Poliani, S. Catania, B. Peissel, F. Pagni, S. Russo, P. Peterlongo, S. Manoukian, P. Finelli
DNA copy number variations in a cohort of 216 Italian women with premature ovarian failure
2018 K. Teearu, O. Žilina, O. Tšuiko, A. Marozzi, P. Finelli, I. Bestetti, D. Toniolo, A. Salumets, A. Kurg
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
Fundamental role of BMP15 in human ovarian folliculogenesis revealed by null and missense mutations associated with primary ovarian insufficiency
2020 R. Rossetti, I. Ferrari, I. Bestetti, S. Moleri, F. Brancati, L. Petrone, P. Finelli, L. Persani
GENOME WIDE ANALYSIS IN A COHORT OF 46,XX PATIENTS AFFECTED BY AN EXTREME PHENOTYPE OF PRIMARY OVARIAN INSUFFICIENCY: AN EFFICIENT TOOL TO IDENTIFY NEW GENES INVOLVED IN OOCYTE MATURATION AND DIFFERENTIATION
2016 I. Bestetti
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
Identification of rare CNVs involving genes acting in oocyte maturation and differentiation in a cohort of patients affected by Primary Ovarian Insufficiency
2014 I. Bestetti, C. Castronovo, M. Crippa, R. Rossetti, A. Pistocchi, C. Caslini, C. Sala, D. Toniollo, L. Persani, A. Marozzi, 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
Microdeletion in two unrelated patients with intellectual disability
2016 M. Sciarrillo, A. Sironi, I. Bestetti, D. Milani, 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
New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene
2014 M. Crippa, I. Bestetti, M. Perotti, C. Castronovo, S. Tabano, C. Picinelli, G. Grassi, L. Larizza, A.I. Pincelli, 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
Regulatory element deletion cause a down-regulation of ZDHHC15 gene in a proband with Smith Magenis syndrome phenotype
2014 C. Picinelli, I. Bestetti, S. Sirchia, C. Castronovo, L. Paganini, F. Menni, A. Selicorni, M.F. Bedeschi, L. Larizza, P. Finelli
SETD5 Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome
2020 M. Crippa, I. Bestetti, S. Maitz, K. Weiss, A. Spano, M. Masciadri, S. Smithson, L. Larizza, K. Low, L. Cohen, 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
2013 C. Picinelli, S. Galletti, L. Calzari, M. Crippa, I. Bestetti, C. Castronovo, S. Cuzzetti, S. Russo, L. Larizza, P. Finelli