FINELLI, PALMA
FINELLI, PALMA
Dipartimento di Biotecnologie Mediche e Medicina Traslazionale
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
A case of 18p chromosomal deletion encompassing GNAL in a patient with dystonia-parkinsonism
2024 G. Di Rauso, F. Cavallieri, E. Monfrini, A. Fraternali, V. Fioravanti, S. Grisanti, A. Gessani, I. Campanini, A. Merlo, G. Toschi, M. Napoli, R. Pascarella, R. Silipigni, P. Finelli, J.J. Paul, P. Bauer, A. Versari, A. Di Fonzo, F. Valzania
Germline NUP98 Variants in Two Siblings with a Rothmund–Thomson-Like Spectrum: Protein Functional Changes Predicted by Molecular Modeling
2023 E.A. Colombo, M. Valiante, M. Uggeri, A. Orro, S. Majore, P. Grammatico, D. Gentilini, P. Finelli, C.C.G. Gervasini, P. D’Ursi, L. Larizza
DIS3 depletion in multiple myeloma causes extensive perturbation in cell cycle progression and centrosome amplification
2023 V.K. Favasuli, D. Ronchetti, I. Silvestris, N. Puccio, G. Fabbiano, V. Traini, K. Todoerti, S. Erratico, A. Ciarrocchi, V. Fragliasso, D. Giannandrea, F. Tumiatti, R. Chiaramonte, Y. Torrente, P. Finelli, E. Morelli, N.C. Munshi, N. Bolli, A. Neri, E. Taìana
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
Smith-Magenis syndrome-Clinical review, biological background and related disorders
2022 B. Rinaldi, R. Villa, A. Sironi, L. Garavelli, P. Finelli, M. Francesca Bedeschi
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
Histone deacetylase inhibitors ameliorate morphological defects and hypoexcitability of iPSC-neurons from Rubinstein-Taybi patients
2021 V. Alari, P. Scalmani, P.F. Ajmone, S. Perego, S. Avignone, I. Catusi, P.A. Lonati, M.O. Borghi, P. Finelli, B. Terragni, M. Mantegazza, S. Russo, L. Larizza
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
Transcriptome Analysis of iPSC-Derived Neurons from Rubinstein-Taybi Patients Reveals Deficits in Neuronal Differentiation
2020 L. Calzari, M. Barcella, V. Alari, D. Braga, R. Munoz-Viana, C. Barlassina, P. Finelli, C. Gervasini, A. Barco, S. Russo, L. Larizza
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
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
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
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
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
Developmental disorders with intellectual disability driven by chromatin dysregulation: Clinical overlaps and molecular mechanisms
2019 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
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