CRIPPA, MILENA
CRIPPA, MILENA
Dipartimento di Biotecnologie Mediche e Medicina Traslazionale
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
(Epi)genetic profiling of extraembryonic and postnatal tissues from female monozygotic twins discordant for Beckwith–Wiedemann syndrome
2020 L. Fontana, M.F. Bedeschi, G.A. Cagnoli, J. Costanza, N. Persico, S. Gangi, M. Porro, P. Ajmone, P. Colapietro, C. Santaniello, M. Crippa, S.M. Sirchia, M. Miozzo, S. Tabano
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
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
Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome : the interconnections of epigenetic machinery disorders
2019 G. Negri, P. Magini, D. Milani, M. Crippa, E. Biamino, M. Piccione, S. Sotgiu, C. Perrìa, G. Vitiello, M. Frontali, A. Boni, E. Di Fede, M.C. Gandini, E.A. Colombo, M.J. Bamshad, D.A. Nickerson, J.D. Smith, I. Loddo, P. Finelli, M. Seri, T. Pippucci, L. Larizza, C. Gervasini
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
Generation of three iPSC lines (IAIi002, IAIi004, IAIi003) from Rubinstein-Taybi syndrome 1 patients carrying CREBBP non sense c.4435G>T, p.(Gly1479*) and c.3474G>A, p.(Trp1158*) and missense c.4627G>T, p.(Asp1543Tyr) mutations
2019 V. Alari, S. Russo, D. Rovina, M. Garzo, M. Crippa, L. Calzari, C. Scalera, D. Concolino, E. Castiglioni, D. Giardino, E. Prosperi, P. Finelli, C. Gervasini, A. Gowran, L. Larizza
Generation of the Rubinstein-Taybi syndrome type 2 patient-derived induced pluripotent stem cell line (IAIi001-A) carrying the EP300 exon 23 stop mutation c.3829A > T, p.(Lys1277*)
2018 V. Alari, S. Russo, D. Rovina, A. Gowran, M. Garzo, M. Crippa, L. Mazzanti, C. Scalera, E. Prosperi, D. Giardino, C. Gervasini, P. Finelli, G. Pompilio, L. Larizza
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
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
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
Fetal cell microchimerism : a protective role in autoimmune thyroid diseases
2015 V. Cirello, R. Rizzo, M. Crippa, I. Campi, D. Bortolotti, S. Bolzani, C. Colombo, G. Vannucchi, M.A. Maffini, F. de Liso, S. Ferrero, P. Finelli, L. Fugazzola
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
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
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
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