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The Y-chromosome tree bursts into leaf: 13,000 high-confidence SNPs covering the majority of known clades.
Hallast P, Batini C, Zadik D, Maisano Delser P, Wetton JH, Arroyo-Pardo E, Cavalleri GL, de Knijff P, Destro Bisol G, Dupuy BM, Eriksen HA, Jorde LB, King TE, Larmuseau MH, López de Munain A, López-Parra AM, Loutradis A, Milasin J, Novelletto A, Pamjav H, Sajantila A, Schempp W, Sears M, Tolun A, Tyler-Smith C, Van Geystelen A, Watkins S, Winney B, Jobling MA. Hallast P, et al. Among authors: lopez de munain a, lopez parra am, de knijff p. Mol Biol Evol. 2015 Mar;32(3):661-73. doi: 10.1093/molbev/msu327. Epub 2014 Dec 2. Mol Biol Evol. 2015. PMID: 25468874 Free PMC article.
Recent male-mediated gene flow over a linguistic barrier in Iberia, suggested by analysis of a Y-chromosomal DNA polymorphism.
Hurles ME, Veitia R, Arroyo E, Armenteros M, Bertranpetit J, Pérez-Lezaun A, Bosch E, Shlumukova M, Cambon-Thomsen A, McElreavey K, López De Munain A, Röhl A, Wilson IJ, Singh L, Pandya A, Santos FR, Tyler-Smith C, Jobling MA. Hurles ME, et al. Among authors: lopez de munain a. Am J Hum Genet. 1999 Nov;65(5):1437-48. doi: 10.1086/302617. Am J Hum Genet. 1999. PMID: 10521311 Free PMC article.
Prevalence of cancer in Parkinson's disease related to R1441G and G2019S mutations in LRRK2.
Ruiz-Martínez J, de la Riva P, Rodríguez-Oroz MC, Mondragón Rezola E, Bergareche A, Gorostidi A, Gago B, Estanga A, Larrañaga N, Sarasqueta C, López de Munain A, Martí Massó JF. Ruiz-Martínez J, et al. Among authors: de la riva p, lopez de munain a. Mov Disord. 2014 May;29(6):750-5. doi: 10.1002/mds.25778. Epub 2013 Dec 19. Mov Disord. 2014. PMID: 24357540
Entire CAPN3 gene deletion in a patient with limb-girdle muscular dystrophy type 2A.
Jaka O, Azpitarte M, Paisán-Ruiz C, Zulaika M, Casas-Fraile L, Sanz R, Trevisiol N, Levy N, Bartoli M, Krahn M, López de Munain A, Sáenz A. Jaka O, et al. Among authors: lopez de munain a. Muscle Nerve. 2014 Sep;50(3):448-53. doi: 10.1002/mus.24263. Epub 2014 Aug 5. Muscle Nerve. 2014. PMID: 24715573
Common variants in Alzheimer's disease and risk stratification by polygenic risk scores.
de Rojas I, Moreno-Grau S, Tesi N, Grenier-Boley B, Andrade V, Jansen IE, Pedersen NL, Stringa N, Zettergren A, Hernández I, Montrreal L, Antúnez C, Antonell A, Tankard RM, Bis JC, Sims R, Bellenguez C, Quintela I, González-Perez A, Calero M, Franco-Macías E, Macías J, Blesa R, Cervera-Carles L, Menéndez-González M, Frank-García A, Royo JL, Moreno F, Huerto Vilas R, Baquero M, Diez-Fairen M, Lage C, García-Madrona S, García-González P, Alarcón-Martín E, Valero S, Sotolongo-Grau O, Ullgren A, Naj AC, Lemstra AW, Benaque A, Pérez-Cordón A, Benussi A, Rábano A, Padovani A, Squassina A, de Mendonça A, Arias Pastor A, Kok AAL, Meggy A, Pastor AB, Espinosa A, Corma-Gómez A, Martín Montes A, Sanabria Á, DeStefano AL, Schneider A, Haapasalo A, Kinhult Ståhlbom A, Tybjærg-Hansen A, Hartmann AM, Spottke A, Corbatón-Anchuelo A, Rongve A, Borroni B, Arosio B, Nacmias B, Nordestgaard BG, Kunkle BW, Charbonnier C, Abdelnour C, Masullo C, Martínez Rodríguez C, Muñoz-Fernandez C, Dufouil C, Graff C, Ferreira CB, Chillotti C, Reynolds CA, Fenoglio C, Van Broeckhoven C, Clark C, Pisanu C, Satizabal CL, Holmes C, Buiza-Rueda D, Aarsland D, Rujescu D, Alcolea D, Galimberti D, Wallon D, … See abstract for full author list ➔ de Rojas I, et al. Among authors: lopez de munain a, de mendonca a. Nat Commun. 2021 Jun 7;12(1):3417. doi: 10.1038/s41467-021-22491-8. Nat Commun. 2021. PMID: 34099642 Free PMC article.
Current mutation discovery approaches in Retinitis Pigmentosa.
Anasagasti A, Irigoyen C, Barandika O, López de Munain A, Ruiz-Ederra J. Anasagasti A, et al. Among authors: lopez de munain a. Vision Res. 2012 Dec 15;75:117-29. doi: 10.1016/j.visres.2012.09.012. Epub 2012 Sep 27. Vision Res. 2012. PMID: 23022136 Free article. Review.
The A1555G mutation in the 12S rRNA gene of human mtDNA: recurrent origins and founder events in families affected by sensorineural deafness.
Torroni A, Cruciani F, Rengo C, Sellitto D, López-Bigas N, Rabionet R, Govea N, López De Munain A, Sarduy M, Romero L, Villamar M, del Castillo I, Moreno F, Estivill X, Scozzari R. Torroni A, et al. Among authors: lopez bigas n, lopez de munain a. Am J Hum Genet. 1999 Nov;65(5):1349-58. doi: 10.1086/302642. Am J Hum Genet. 1999. PMID: 10521300 Free PMC article.
356 results