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Variants in ABCG8 and TRAF3 genes confer risk for gallstone disease in admixed Latinos with Mapuche Native American ancestry.
Bustos BI, Pérez-Palma E, Buch S, Azócar L, Riveras E, Ugarte GD, Toliat M, Nürnberg P, Lieb W, Franke A, Hinz S, Burmeister G, von Schönfels W, Schafmayer C, Völzke H, Völker U, Homuth G, Lerch MM, Santos JL, Puschel K, Bambs C, Roa JC, Gutiérrez RA, Hampe J, De Ferrari GV, Miquel JF. Bustos BI, et al. Among authors: de ferrari gv. Sci Rep. 2019 Jan 28;9(1):772. doi: 10.1038/s41598-018-35852-z. Sci Rep. 2019. PMID: 30692554 Free PMC article.
Whole Genome Sequence, Variant Discovery and Annotation in Mapuche-Huilliche Native South Americans.
Vidal EA, Moyano TC, Bustos BI, Pérez-Palma E, Moraga C, Riveras E, Montecinos A, Azócar L, Soto DC, Vidal M, Di Genova A, Puschel K, Nürnberg P, Buch S, Hampe J, Allende ML, Cambiazo V, González M, Hodar C, Montecino M, Muñoz-Espinoza C, Orellana A, Reyes-Jara A, Travisany D, Vizoso P, Moraga M, Eyheramendy S, Maass A, De Ferrari GV, Miquel JF, Gutiérrez RA. Vidal EA, et al. Among authors: de ferrari gv. Sci Rep. 2019 Feb 14;9(1):2132. doi: 10.1038/s41598-019-39391-z. Sci Rep. 2019. PMID: 30765821 Free PMC article.
Copy number variants in lipid metabolism genes are associated with gallstones disease in men.
Pérez-Palma E, Bustos BI, Lal D, Buch S, Azocar L, Toliat MR, Lieb W, Franke A, Hinz S, Burmeister G, von Shönfels W, Schafmayer C, Ahnert P, Völzke H, Völker U, Homuth G, Lerch MM, Puschel K, Gutiérrez RA, Hampe J, Nürnberg P, Miquel JF, De Ferrari GV. Pérez-Palma E, et al. Among authors: de ferrari gv. Eur J Hum Genet. 2020 Feb;28(2):264-273. doi: 10.1038/s41431-019-0501-7. Epub 2019 Sep 4. Eur J Hum Genet. 2020. PMID: 31485028 Free PMC article.
A novel functional low-density lipoprotein receptor-related protein 6 gene alternative splice variant is associated with Alzheimer's disease.
Alarcón MA, Medina MA, Hu Q, Avila ME, Bustos BI, Pérez-Palma E, Peralta A, Salazar P, Ugarte GD, Reyes AE, Martin GM, Opazo C, Moon RT, De Ferrari GV. Alarcón MA, et al. Among authors: de ferrari gv. Neurobiol Aging. 2013 Jun;34(6):1709.e9-18. doi: 10.1016/j.neurobiolaging.2012.11.004. Epub 2012 Dec 6. Neurobiol Aging. 2013. PMID: 23218566
Wnt/β-catenin signaling in Alzheimer's disease.
De Ferrari GV, Avila ME, Medina MA, Perez-Palma E, Bustos BI, Alarcon MA. De Ferrari GV, et al. CNS Neurol Disord Drug Targets. 2014;13(5):745-54. doi: 10.2174/1871527312666131223113900. CNS Neurol Disord Drug Targets. 2014. PMID: 24365184 Review.
Overrepresentation of glutamate signaling in Alzheimer's disease: network-based pathway enrichment using meta-analysis of genome-wide association studies.
Pérez-Palma E, Bustos BI, Villamán CF, Alarcón MA, Avila ME, Ugarte GD, Reyes AE, Opazo C, De Ferrari GV; Alzheimer's Disease Neuroimaging Initiative; NIA-LOAD/NCRAD Family Study Group. Pérez-Palma E, et al. Among authors: de ferrari gv. PLoS One. 2014 Apr 22;9(4):e95413. doi: 10.1371/journal.pone.0095413. eCollection 2014. PLoS One. 2014. PMID: 24755620 Free PMC article.
Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies.
Pérez-Palma E, Helbig I, Klein KM, Anttila V, Horn H, Reinthaler EM, Gormley P, Ganna A, Byrnes A, Pernhorst K, Toliat MR, Saarentaus E, Howrigan DP, Hoffman P, Miquel JF, De Ferrari GV, Nürnberg P, Lerche H, Zimprich F, Neubauer BA, Becker AJ, Rosenow F, Perucca E, Zara F, Weber YG, Lal D. Pérez-Palma E, et al. Among authors: de ferrari gv. J Med Genet. 2017 Sep;54(9):598-606. doi: 10.1136/jmedgenet-2016-104495. Epub 2017 Jul 29. J Med Genet. 2017. PMID: 28756411 Free PMC article.
Duplications at 19q13.33 in patients with neurodevelopmental disorders.
Pérez-Palma E, Saarentaus E, Ravoet M, De Ferrari GV, Nürnberg P, Isidor B, Neubauer BA, Lal D. Pérez-Palma E, et al. Among authors: de ferrari gv. Neurol Genet. 2018 Jan 26;4(1):e210. doi: 10.1212/NXG.0000000000000210. eCollection 2018 Feb. Neurol Genet. 2018. PMID: 29473046 Free PMC article.
Wnt/β-Catenin-Dependent Transcription in Autism Spectrum Disorders.
Caracci MO, Avila ME, Espinoza-Cavieres FA, López HR, Ugarte GD, De Ferrari GV. Caracci MO, et al. Among authors: de ferrari gv. Front Mol Neurosci. 2021 Nov 11;14:764756. doi: 10.3389/fnmol.2021.764756. eCollection 2021. Front Mol Neurosci. 2021. PMID: 34858139 Free PMC article. Review.
37 results