BESTETTI, ILARIA
BESTETTI, ILARIA
Universita' degli Studi di MILANO
Long-read sequencing reveals chromothripsis in a molecularly unsolved case of Cornelia de Lange syndrome
2024 I. Bestetti, M. Crippa, A. Sironi, M. Bellini, F. Tumiatti, S. Ballabio, F. Ceriotti, L. Memo, M. Iascone, L. Larizza, P. Finelli
An intragenic duplication in the AFF2 gene associated with Cornelia de Lange syndrome phenotype
2024 C. Lucia-Campos, I. Parenti, A. Latorre-Pellicer, M. Gil-Salvador, I. Bestetti, P. Finelli, L. Larizza, M. Arnedo, A. Ayerza-Casas, J. Del Rincón, L. Trujillano, B. Morte, L.A. Pérez-Jurado, P. Lapunzina, E. Leitão, J. Beygo, C. Lich, F. Kilpert, S. Kaya, C. Depienne, F.J. Kaiser, F.J. Ramos, B. Puisac, J. Pié
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
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
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
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
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
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
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
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
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
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
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
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
Microdeletion in two unrelated patients with intellectual disability
2016 M. Sciarrillo, A. Sironi, I. Bestetti, D. Milani, L. Larizza, 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
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
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