Chromatinopathies: A focus on Cornelia de Lange syndrome L Avagliano, I Parenti, P Grazioli, E Di Fede, C Parodi, M Mariani, ... Clinical genetics 97 (1), 3-11, 2020 | 55 | 2020 |
The Cornelia de Lange Syndrome-associated factor NIPBL interacts with BRD4 ET domain for transcription control of a common set of genes N Luna-Peláez, R March-Díaz, M Ceballos-Chávez, JA Guerrero-Martínez, ... Cell Death & Disease 10 (8), 548, 2019 | 42 | 2019 |
Modeling Cornelia de Lange syndrome in vitro and in vivo reveals a role for cohesin complex in neuronal survival and differentiation D Bottai, M Spreafico, A Pistocchi, G Fazio, R Adami, P Grazioli, A Canu, ... Human molecular genetics 28 (1), 64-73, 2019 | 26 | 2019 |
Integrating molecular and structural findings: Wnt as a possible actor in shaping cognitive impairment in Cornelia de Lange syndrome L Avagliano, P Grazioli, M Mariani, GP Bulfamante, A Selicorni, V Massa Orphanet Journal of Rare Diseases 12, 1-8, 2017 | 25 | 2017 |
KMT2A: Umbrella Gene for Multiple Diseases S Castiglioni, E Di Fede, C Bernardelli, A Lettieri, C Parodi, P Grazioli, ... Genes 13 (3), 514, 2022 | 23 | 2022 |
Lithium as a possible therapeutic strategy for Cornelia de Lange syndrome P Grazioli, C Parodi, M Mariani, D Bottai, E Di Fede, A Zulueta, ... Cell Death Discovery 7 (1), 34, 2021 | 14 | 2021 |
Chromatin imbalance as the vertex between fetal valproate syndrome and chromatinopathies C Parodi, E Di Fede, A Peron, I Viganò, P Grazioli, S Castiglioni, ... Frontiers in Cell and Developmental Biology 9, 654467, 2021 | 8 | 2021 |
Insights into the Role of the Microbiota and of Short-Chain Fatty Acids in Rubinstein–Taybi Syndrome E Di Fede, E Ottaviano, P Grazioli, C Ceccarani, A Galeone, C Parodi, ... International Journal of Molecular Sciences 22 (7), 3621, 2021 | 7 | 2021 |
Rings and bricks: expression of cohesin components is dynamic during development and adult life LR Bettini, F Graziola, G Fazio, P Grazioli, V Scagliotti, M Pasquini, ... International Journal of Molecular Sciences 19 (2), 438, 2018 | 6 | 2018 |
Autism-linked NLGN3 is a key regulator of gonadotropin-releasing hormone deficiency R Oleari, A Lettieri, S Manzini, A Paganoni, V André, P Grazioli, ... Disease Models & Mechanisms 16 (3), dmm049996, 2023 | 5 | 2023 |
Epigenetic disorders: Lessons from the animals–animal models in chromatinopathies E Di Fede, P Grazioli, A Lettieri, C Parodi, S Castiglioni, E Taci, ... Frontiers in Cell and Developmental Biology 10, 979512, 2022 | 2 | 2022 |
Exogenous and endogenous HDAC inhibitor effects in Rubinstein-Taybi syndrome models E Di Fede, E Ottaviano, P Grazioli, C Ceccarani, C Parodi, EA Colombo, ... BioRxiv, 2020.03. 31.015800, 2020 | 2 | 2020 |
Dynamic acetylation profile during mammalian neurulation V Massa, L Avagliano, P Grazioli, SCP De Castro, C Parodi, D Savery, ... Birth Defects Research 112 (2), 205-211, 2020 | 2 | 2020 |
Expanding the clinical spectrum of PPP3CA variants: alternative isoforms matter S Castiglioni, A Lettieri, E Di Fede, L Pezzani, S Ancona, E Colombo, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 468-468, 2024 | | 2024 |
Combined omic analyses reveal autism-linked NLGN3 gene as a key developmental regulator of GnRH neuron biology and disease. R Oleari, A Lettieri, S Manzini, A Paganoni, V André, P Grazioli, ... Disease Models & Mechanisms, dmm. 049996-dmm. 049996, 2023 | | 2023 |
Combined omic analyses reveal novel loss-of-function NLGN3 variants in GnRH deficiency and autism R Oleari, A Lettieri, S Manzini, A Paganoni, V André, P Grazioli, ... medRxiv, 2022.05. 24.22275221, 2022 | | 2022 |
A combined omic analysis revealed autism-linked NLGN3 as a new candidate gene associated to GnRH neuron development and disease R Oleari, A Lettieri, S Manzini, AJJ Paganoni, P Grazioli, M Busnelli, ... | | 2022 |
IN VITRO AND IN VIVO MODELLING OF CORNELIA DE LANGE SYNDROME CAUSATIVE MUTATIONS: WNT ACTIVATION AS A POSSIBLE THERAPEUTIC APPROACH P Grazioli Università degli Studi di Milano, 2021 | | 2021 |
Neural tube defects: embryonic origin, cell survival equilibrium impact, and clinical features C Parodi, P Grazioli, L Avagliano, TM George, GP Bulfamante, RH Finnell, ... Diagnosis, Management and Modeling of Neurodevelopmental Disorders, 13-26, 2021 | | 2021 |
Lithium ameliorates Cornelia de Lange syndrome associated phenotypes in experimental models P Grazioli, C Parodi, M Mariani, D Bottai, E Di Fede, A Zulueta, ... bioRxiv, 2020.07. 15.204628, 2020 | | 2020 |