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38 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 | PubMed | Europe PMC
 
2020 | Journal Article | IST-REx-ID: 7488 | OA
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: 7586 | OA
Weinert S, Gimber N, Deuschel D, et al. Uncoupling endosomal CLC chloride/proton exchange causes severe neurodegeneration. EMBO Journal. doi:10.15252/embj.2019103358
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2020 | Preprint | IST-REx-ID: 7800 | OA
Morandell J, Schwarz LA, Basilico B, et al. Cul3 regulates cytoskeleton protein homeostasis and cell migration during a critical window of brain development. BioRxiv.
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2020 | Journal Article | IST-REx-ID: 7877 | OA
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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2020 | Journal Article | IST-REx-ID: 7957 | OA
Parenti I, Garcia Rabaneda LE, Schön H, Novarino G. Neurodevelopmental disorders: From genetics to functional pathways. Trends in Neurosciences. doi:10.1016/j.tins.2020.05.004
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2020 | Journal Article | IST-REx-ID: 8131 | OA
Basilico B, Morandell J, Novarino G. Molecular mechanisms for targeted ASD treatments. Current Opinion in Genetics and Development. 2020;65(12):126-137. doi:10.1016/j.gde.2020.06.004
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2019 | Journal Article | IST-REx-ID: 7414
Knaus L, Tarlungeanu D-C, Novarino G. S.16.03 A homozygous missense mutation in SLC7A5 leads to autism spectrum disorder and microcephaly. European Neuropsychopharmacology. 2019;29(Supplement 6):S11. doi:10.1016/j.euroneuro.2019.09.039
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2019 | Journal Article | IST-REx-ID: 7415
Morandell J, Nicolas A, Schwarz LA, Novarino G. S.16.05 Illuminating the role of the e3 ubiquitin ligase cullin3 in brain development and autism. European Neuropsychopharmacology. 2019;29(Supplement 6):S11-S12. doi:10.1016/j.euroneuro.2019.09.040
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2019 | Research Data | IST-REx-ID: 6074 | OA
Dotter C, Novarino G. Supplementary Data for the Research Paper “Haploinsufficiency of the Intellectual Disability Gene SETD5 Disturbs Developmental Gene Expression and Cognition.” IST Austria; 2019. doi:10.15479/AT:ISTA:6074
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