4 Publications

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[4]
2020 | Journal Article | IST-REx-ID: 7957 | OA
Neurodevelopmental disorders: From genetics to functional pathways
I. Parenti, L.E. Garcia Rabaneda, H. Schön, G. Novarino, Trends in Neurosciences 43 (2020) 608–621.
View | Files available | DOI | PubMed | Europe PMC
 
[3]
2020 | Journal Article | IST-REx-ID: 7488 | OA
Evaluating Face2Gene as a tool to identify Cornelia de Lange syndrome by facial phenotypes
A. Latorre-Pellicer, Á. Ascaso, L. Trujillano, M. Gil-Salvador, M. Arnedo, C. Lucia-Campos, R. Antoñanzas-Pérez, I. Marcos-Alcalde, I. Parenti, G. Bueno-Lozano, A. Musio, B. Puisac, F.J. Kaiser, F.J. Ramos, P. Gómez-Puertas, J. Pié, International Journal of Molecular Sciences 21 (2020).
View | Files available | DOI
 
[2]
2020 | Journal Article | IST-REx-ID: 7877 | OA
MAU2 and NIPBL variants impair the heterodimerization of the cohesin loader subunits and cause Cornelia de Lange syndrome
Parenti I, Diab F, Gil SR, Mulugeta E, Casa V, Berutti R, Brouwer RWW, Dupé V, Eckhold J, Graf E, Puisac B, Ramos F, Schwarzmayr T, Gines MM, Van Staveren T, Van Ijcken WFJ, Strom TM, Pié J, Watrin E, Kaiser FJ, Wendt KS. 2020. MAU2 and NIPBL variants impair the heterodimerization of the cohesin loader subunits and cause Cornelia de Lange syndrome. Cell Reports. 31(7), 107647.
View | Files available | DOI
 
[1]
2020 | Journal Article | IST-REx-ID: 7149
Chromatinopathies: A focus on Cornelia de Lange syndrome
L. Avagliano, I. Parenti, P. Grazioli, E. Di Fede, C. Parodi, M. Mariani, F.J. Kaiser, A. Selicorni, C. Gervasini, V. Massa, Clinical Genetics 97 (2020) 3–11.
View | DOI | PubMed | Europe PMC
 

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4 Publications

Mark all

[4]
2020 | Journal Article | IST-REx-ID: 7957 | OA
Neurodevelopmental disorders: From genetics to functional pathways
I. Parenti, L.E. Garcia Rabaneda, H. Schön, G. Novarino, Trends in Neurosciences 43 (2020) 608–621.
View | Files available | DOI | PubMed | Europe PMC
 
[3]
2020 | Journal Article | IST-REx-ID: 7488 | OA
Evaluating Face2Gene as a tool to identify Cornelia de Lange syndrome by facial phenotypes
A. Latorre-Pellicer, Á. Ascaso, L. Trujillano, M. Gil-Salvador, M. Arnedo, C. Lucia-Campos, R. Antoñanzas-Pérez, I. Marcos-Alcalde, I. Parenti, G. Bueno-Lozano, A. Musio, B. Puisac, F.J. Kaiser, F.J. Ramos, P. Gómez-Puertas, J. Pié, International Journal of Molecular Sciences 21 (2020).
View | Files available | DOI
 
[2]
2020 | Journal Article | IST-REx-ID: 7877 | OA
MAU2 and NIPBL variants impair the heterodimerization of the cohesin loader subunits and cause Cornelia de Lange syndrome
Parenti I, Diab F, Gil SR, Mulugeta E, Casa V, Berutti R, Brouwer RWW, Dupé V, Eckhold J, Graf E, Puisac B, Ramos F, Schwarzmayr T, Gines MM, Van Staveren T, Van Ijcken WFJ, Strom TM, Pié J, Watrin E, Kaiser FJ, Wendt KS. 2020. MAU2 and NIPBL variants impair the heterodimerization of the cohesin loader subunits and cause Cornelia de Lange syndrome. Cell Reports. 31(7), 107647.
View | Files available | DOI
 
[1]
2020 | Journal Article | IST-REx-ID: 7149
Chromatinopathies: A focus on Cornelia de Lange syndrome
L. Avagliano, I. Parenti, P. Grazioli, E. Di Fede, C. Parodi, M. Mariani, F.J. Kaiser, A. Selicorni, C. Gervasini, V. Massa, Clinical Genetics 97 (2020) 3–11.
View | DOI | PubMed | Europe PMC
 

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