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Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann-Pick disease type B.
Acuña M, Martínez P, Moraga C, He X, Moraga M, Hunter B, Nuernberg P, Gutiérrez RA, González M, Schuchman EH, Santos JL, Miquel JF, Mabe P, Zanlungo S. Acuña M, et al. Among authors: miquel jf. Eur J Hum Genet. 2016 Feb;24(2):208-13. doi: 10.1038/ejhg.2015.89. Epub 2015 Apr 29. Eur J Hum Genet. 2016. PMID: 25920558 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: miquel jf. 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: miquel jf. 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.
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: miquel jf. Sci Rep. 2019 Jan 28;9(1):772. doi: 10.1038/s41598-018-35852-z. Sci Rep. 2019. PMID: 30692554 Free PMC article.
138 results