Investigación Epidemiológica en Enfermedades Raras

Mechanical control of nuclear import by Importin-7 is regulated by its dominant cargo YAP. (2022) Nature Communications.

García-García M, Sánchez-Perales S, Casas-Tintó S, Görlich D, Echarri A and del Pozo MA. Mechanical control of nuclear import by Importin-7 is regulated by its dominant cargo YAP. (2022) Nature Communications. doi: 10.1038/s41467-022-28693-y. PMID: 35246520

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Patient involvement in health research: a contribution to a systematic review on the effectiveness of treatments for degenerative ataxias. Soc Sci Med. 2009 Sep;69(6):920-5

Serrano-Aguilar P, Trujillo-Martín MM, Ramos-Goñi JM, Mahtani-Chugani V, Perestelo-Pérez L, Posada de la Paz M

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Deletion 1q43-44 in a patient with clinical diagnosis of Warburg-Micro syndrome. Am J Med Genet A. 2015 Jun;167(6):1243-51

Arroyo-Carrera I, de Zaldívar Tristancho MS, Bermejo-Sánchez E, Martínez-Fernández ML, López-Lafuente A, MacDonald A, Zúñiga Á, Luis Gómez-Skarmeta J, Luisa Martínez-Frías M.

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Circadian Gene cry Controls Tumorigenesis through Modulation of Myc Accumulation in Glioblastoma Cells. (2022) Int J Mol Sci.

Jarabo P, de Pablo C, González-Blanco A, Casas-Tintó S.

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Rare diseases epidemiology research. Adv Exp Med Biol. 2010;686:17-39

Posada de la Paz, Villaverde-Hueso A, Alonso-Ferreira V, János S, Zurriaga O, Pollán M, Abaitua-Borda I

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Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes. Am J Hum Genet. 2015 Jul 2;97(1):99-110

Marchegiani S, Davis T, Tessadori F, van Haaften G, Brancati F, Hoischen A, Huang H, Valkanas E, Pusey B, Schanze D, Venselaar H, Vulto-van Silfhout AT, Wolfe LA, Tifft CJ, Zerfas PM, Zambruno G, Kariminejad A, Sabbagh-Kermani F, Lee J, Tsokos MG, Lee CC, Ferraz V, da Silva EM, Stevens CA, Roche N, Bartsch O, Farndon P, Bermejo-Sanchez E, Brooks BP, Maduro V, Dallapiccola B, Ramos FJ, Chung HY, Le Caignec C, Martins F, Jacyk WK, Mazzanti L, Brunner HG, Bakkers J, Lin S, Malicdan MC, Boerkoel CF, Gahl WA, de Vries BB, van Haelst MM, Zenker M, Markello TC.

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Cell-to-cell communication mediates glioblastoma progression in Drosophila. (2020) Biol Open.

Marta Portela, Teresa Mitchell, Sergio Casas-Tintó.

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Concepto, epidemiología, situación actual y perspectivas futuras. Aten Primaria. 2010 Mar;42(3):169-72

Posada de la Paz M, García Ribes M.

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Investigación