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36 Publications

2020 | Preprint | IST-REx-ID: 7800   OA
Morandell, Jasmin, et al. Cul3 Regulates Cytoskeleton Protein Homeostasis and Cell Migration during a Critical Window of Brain Development. Cold Spring Harbor Laboratory.
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2020 | Journal Article | IST-REx-ID: 7488   OA
Latorre-Pellicer, Ana, et al. “Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes.” International Journal of Molecular Sciences, vol. 21, no. 3, MDPI, 2020, p. 1042, doi:10.3390/ijms21031042.
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2020 | Journal Article | IST-REx-ID: 7957   OA
Parenti, Ilaria, et al. “Neurodevelopmental Disorders: From Genetics to Functional Pathways.” Trends in Neurosciences, Elsevier, doi:10.1016/j.tins.2020.05.004.
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2020 | Journal Article | IST-REx-ID: 7149
Avagliano, Laura, et al. “Chromatinopathies: A Focus on Cornelia de Lange Syndrome.” Clinical Genetics, vol. 97, no. 1, Wiley, 2020, pp. 3–11, doi:10.1111/cge.13674.
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2020 | Journal Article | IST-REx-ID: 7586   OA
Weinert, Stefanie, et al. “Uncoupling Endosomal CLC Chloride/Proton Exchange Causes Severe Neurodegeneration.” EMBO Journal, EMBO Press, p. e103358, doi:10.15252/embj.2019103358.
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2020 | Journal Article | IST-REx-ID: 7877   OA
Parenti, Ilaria, et al. “MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome.” Cell Reports, vol. 31, no. 7, Elsevier, 2020, p. 107647, doi:10.1016/j.celrep.2020.107647.
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2019 | Journal Article | IST-REx-ID: 105
Marsh, Ashley, et al. “CUGC for Pontocerebellar Hypoplasia Type 9 and Spastic Paraplegia-63.” European Journal of Human Genetics, vol. 27, Nature Publishing Group, 2019, pp. 161–66, doi:10.1038/s41431-018-0231-2.
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2019 | Journal Article | IST-REx-ID: 6896
Oliveira, Bárbara, et al. “Modeling Cell-Cell Interactions in the Brain Using Cerebral Organoids.” Brain Research, vol. 1724, 146458, Elsevier, 2019, doi:10.1016/j.brainres.2019.146458.
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2019 | Journal Article | IST-REx-ID: 7414
Knaus, Lisa, et al. “S.16.03 A Homozygous Missense Mutation in SLC7A5 Leads to Autism Spectrum Disorder and Microcephaly.” European Neuropsychopharmacology, vol. 29, no. Supplement 6, Elsevier, 2019, p. S11, doi:10.1016/j.euroneuro.2019.09.039.
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2019 | Journal Article | IST-REx-ID: 7415
Morandell, Jasmin, et al. “S.16.05 Illuminating the Role of the E3 Ubiquitin Ligase Cullin3 in Brain Development and Autism.” European Neuropsychopharmacology, vol. 29, no. Supplement 6, Elsevier, 2019, pp. S11–12, doi:10.1016/j.euroneuro.2019.09.040.
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