FINELLI, PALMA
FINELLI, PALMA
Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti
Lithium ameliorates neural differentiation restoring cell death balance in Cornelia de Lange syndrome 2D and 3D models
2026 C. Parodi, A. Lettieri, P. Grazioli, E. Di Fede, S. Grassi, E. Taci, A. Toscani, S. Prioni, S. Rebellato, E.A. Colombo, S. Rasetti, A. Cutarelli, M. Mariani, S. Corti, P. Finelli, A. Prinetti, G. Fazio, A. Selicorni, L. Conti, C. Gervasini, V. Massa
What Should a Clinical Cardiologist Know About Cardiogenetics?
2025 A. Faggiano, M.M. Calcagnino, M. Merlo, M. Dal Ferro, F. Moda, M. Sanfilippo, L. Garau, C. Giordano, A. Paldino, M. Gigli, S. Paganini, P. Castronovo, M. Ruscica, P. Finelli, G. Sinagra, S. Carugo
Portrait of a spectrum: clinical and genetic characterization of a large cohort of chromatinopathies—30 years' experience from a third level center
2025 G.B. Marchetti, E. Rosina, C. Meossi, M. Mura, L. Pezzani, A. Selicorni, M.F. Bedeschi, R. Tenconi, C. Agostoni, P. Finelli, S. De Matteis, E. Di Fede, V. Massa, L. Pezzoli, C. Gervasini, M. Iascone, D. Milani
Prenatal Exome Sequencing: When Does Diagnostic Yield Meet Clinical Utility?
2025 A. Carrer, F.M. Crupano, B. Rinaldi, G. Scuvera, C. Cesaretti, V. Nicotra, S. Gangi, L. Colombo, G. Araimo, M. Tagliabue, D. Marchetti, L. Pezzoli, M. Garzo, V. Accurti, G. Volpe, S. Boito, P. Finelli, M. Fumagalli, M.F. Bedeschi, M. Iascone, N. Persico, F. Natacci
Generation and benchmarking of a collection of hiPSC lines from Schizophrenia Patients with Diverse Clinical Profiles
2024 E.R. Vecchi, C.V. Olmeda, D. Bottai, P. Finelli, M.M.A. Salavarria, C. Gervasini, L. Mangiaterra, F. Lombardi, C. Sanguineti, M. Onorati, L. Conti, A. D'Agostino
Editorial: The clinical utility of long read sequencing to improve diagnostic yield and uncover biological mechanisms in rare disease
2024 L. Larizza, C.M. Watson, M.A. Gillentine, P. Finelli
DIS3 depletion in multiple myeloma causes extensive perturbation in cell cycle progression and centrosome amplification
2024 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
CTNND1‐Related Disorder: New Insight on Prenatal Phenotype
2024 B. Conti, C. Di Napoli, S. Hafdaoui, V. Nicotra, C. Cesaretti, L. Runza, V. Accurti, S. Boito, M. Iascone, D. Marchetti, R. Silipigni, P. Finelli, F. Natacci
A Novel KIDINS220 pathogenic variant associated with the syndromic spastic paraplegia SINO: an expansion of the brain malformation spectrum and a literature review
2024 M.T. Bonati, C. Baldoli, J. Taurino, D. Marchetti, L. Larizza, P. Finelli, M. Iascone
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
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
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
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
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
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