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39 Publications

2020 | Journal Article | IST-REx-ID: 7488 | OA
Latorre-Pellicer, Ana, Ángela Ascaso, Laura Trujillano, Marta Gil-Salvador, Maria Arnedo, Cristina Lucia-Campos, Rebeca Antoñanzas-Pérez, et al. “Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes.” International Journal of Molecular Sciences 21, no. 3 (2020). https://doi.org/10.3390/ijms21031042.
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2020 | Journal Article | IST-REx-ID: 7586 | OA
Weinert, Stefanie, Niclas Gimber, Dorothea Deuschel, Till Stuhlmann, Dmytro Puchkov, Zohreh Farsi, Carmen F. Ludwig, et al. “Uncoupling Endosomal CLC Chloride/Proton Exchange Causes Severe Neurodegeneration.” EMBO Journal, n.d. https://doi.org/10.15252/embj.2019103358.
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2020 | Journal Article | IST-REx-ID: 7877 | OA
Parenti, Ilaria, Farah Diab, Sara Ruiz Gil, Eskeatnaf Mulugeta, Valentina Casa, Riccardo Berutti, Rutger W.W. Brouwer, et al. “MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome.” Cell Reports 31, no. 7 (2020). https://doi.org/10.1016/j.celrep.2020.107647.
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2020 | Journal Article | IST-REx-ID: 7957 | OA
Parenti, Ilaria, Luis E Garcia Rabaneda, Hanna Schön, and Gaia Novarino. “Neurodevelopmental Disorders: From Genetics to Functional Pathways.” Trends in Neurosciences, n.d. https://doi.org/10.1016/j.tins.2020.05.004.
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2020 | Journal Article | IST-REx-ID: 7149 | OA
Avagliano, Laura, Ilaria Parenti, Paolo Grazioli, Elisabetta Di Fede, Chiara Parodi, Milena Mariani, Frank J. Kaiser, Angelo Selicorni, Cristina Gervasini, and Valentina Massa. “Chromatinopathies: A Focus on Cornelia de Lange Syndrome.” Clinical Genetics 97, no. 1 (2020): 3–11. https://doi.org/10.1111/cge.13674.
View | DOI | Download Published Version (ext.) | PubMed | Europe PMC
 

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