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Prognostic significance of mutation type and chromosome fragility in Fanconi anemia.
Ramírez MJ, Pujol R, Minguillón J, Bogliolo M, Persico I, Cavero D, de la Cal A, Río P, Navarro S, Casado JA, Bailador A, de la Fuente AS, de Heredia ML, Almazán F, Antelo ML, Argilés B, Badell I, Baragaño M, Beléndez C, Bermúdez M, Bernués M, Buedo MI, Carrasco E, Català A, Costa D, Cuesta I, Fernandez-Delgado R, Fernández-Teijeiro A, Figuera Á, García M, Gondra A, González M, Muñiz SG, Hernández-Rodríguez I, Ibañez F, Kelleher NJ, Lendínez F, López M, López-Almaraz R, Marchante I, Mendoza C, Nieto J, Ojeda E, Payán-Pernía S, Peláez I, de Soto IP, Portugal R, Ramos-Arroyo MA, Regueiro A, Rodríguez A, Rosell J, Saez R, Sánchez J, Sánchez M, Senent M, Tapia M, Trujillo-Quintero JP, Vagace JM, Verdú-Amorós J, Verdugo V, Vidales I, Villarreal J, Díaz-de-Heredia C, Sevilla J, Bueren JA, Surrallés J. Ramírez MJ, et al. Am J Hematol. 2025 Feb;100(2):272-284. doi: 10.1002/ajh.27520. Epub 2024 Nov 19. Am J Hematol. 2025. PMID: 39562502 Free PMC article.
Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases.
Segarra-Casas A, Domínguez-González C, Natera-de Benito D, Kapetanovic S, Hernández-Laín A, Estévez-Arias B, Llansó L, Ortez C, Jou C, Martí-Carrera I, López-Márquez A, Rodríguez MJ, González-Mera L, Nedkova V, Fernández-Torrón R, Rodríguez-Santiago B, Jimenez-Mallebrera C, Juntas-Morales R, López-de Munain A, Surrallés J, Nascimento A, Gallardo E, Olivé M, Gallano P, González-Quereda L. Segarra-Casas A, et al. Ann Clin Transl Neurol. 2025 May 25. doi: 10.1002/acn3.70078. Online ahead of print. Ann Clin Transl Neurol. 2025. PMID: 40413734 Free article.