FINELLI, PALMA
FINELLI, PALMA
Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti
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
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
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
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
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
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
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
Smith-Magenis syndrome-Clinical review, biological background and related disorders
2022 B. Rinaldi, R. Villa, A. Sironi, L. Garavelli, P. Finelli, M. Francesca Bedeschi
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
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
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
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
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
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
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
Developmental disorders with intellectual disability driven by chromatin dysregulation: Clinical overlaps and molecular mechanisms
2019 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
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