Ilaria Parenti
Bernecky Group
Novarino Group
4 Publications
2020 | Journal Article | IST-REx-ID: 7149 |

Avagliano L, Parenti I, Grazioli P, et al. Chromatinopathies: A focus on Cornelia de Lange syndrome. Clinical Genetics. 2020;97(1):3-11. doi:10.1111/cge.13674
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| DOI
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| PubMed | Europe PMC
2020 | Journal Article | IST-REx-ID: 7957 |

Parenti I, Garcia Rabaneda LE, Schön H, Novarino G. Neurodevelopmental disorders: From genetics to functional pathways. Trends in Neurosciences. 2020;43(8):608-621. doi:10.1016/j.tins.2020.05.004
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| PubMed | Europe PMC
2020 | Journal Article | IST-REx-ID: 7488 |

Latorre-Pellicer A, Ascaso Á, Trujillano L, et al. Evaluating Face2Gene as a tool to identify Cornelia de Lange syndrome by facial phenotypes. International Journal of Molecular Sciences. 2020;21(3). doi:10.3390/ijms21031042
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2020 | Journal Article | IST-REx-ID: 7877 |

Parenti I, Diab F, Gil SR, et al. MAU2 and NIPBL variants impair the heterodimerization of the cohesin loader subunits and cause Cornelia de Lange syndrome. Cell Reports. 2020;31(7). doi:10.1016/j.celrep.2020.107647
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| Files available
| DOI
4 Publications
2020 | Journal Article | IST-REx-ID: 7149 |

Avagliano L, Parenti I, Grazioli P, et al. Chromatinopathies: A focus on Cornelia de Lange syndrome. Clinical Genetics. 2020;97(1):3-11. doi:10.1111/cge.13674
View
| DOI
| Download Published Version (ext.)
| PubMed | Europe PMC
2020 | Journal Article | IST-REx-ID: 7957 |

Parenti I, Garcia Rabaneda LE, Schön H, Novarino G. Neurodevelopmental disorders: From genetics to functional pathways. Trends in Neurosciences. 2020;43(8):608-621. doi:10.1016/j.tins.2020.05.004
View
| Files available
| DOI
| PubMed | Europe PMC
2020 | Journal Article | IST-REx-ID: 7488 |

Latorre-Pellicer A, Ascaso Á, Trujillano L, et al. Evaluating Face2Gene as a tool to identify Cornelia de Lange syndrome by facial phenotypes. International Journal of Molecular Sciences. 2020;21(3). doi:10.3390/ijms21031042
View
| Files available
| DOI
2020 | Journal Article | IST-REx-ID: 7877 |

Parenti I, Diab F, Gil SR, et al. MAU2 and NIPBL variants impair the heterodimerization of the cohesin loader subunits and cause Cornelia de Lange syndrome. Cell Reports. 2020;31(7). doi:10.1016/j.celrep.2020.107647
View
| Files available
| DOI