idUS - Browsing by Author "Bleda, Marta"

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Article

267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation

Dopazo, Joaquín; Amadoz, Alicia; Bleda, Marta; Garcia Alonso, Luz; Daub, Josephine T.; Antiñolo Gil, Guillermo; Bhattacharya, Shomi S. (Oxford University Press, 2016)

Recent results from large-scale genomic projects suggest that allele frequencies, which are highly relevant for medical ...
Article

Four new loci associations discovered by pathway-based and network analyses of the genome-wide variability profile of Hirschsprung’s disease

Fernández, Raquel María; Bleda, Marta; Núñez-Torres, Rocío; Medina, Ignacio; Luzón-Toro, Berta; García-Alonso, Luz; Antiñolo Gil, Guillermo; Borrego, Salud (Springer Nature, 2012-12-28)

Finding gene associations in rare diseases is frequently hampered by the reduced numbers of patients accessible. Conventional ...
Article

Pathways systematically associated to Hirschsprung’s disease

Fernández, Raquel María; Bleda, Marta; Luzón-Toro, Berta; García-Alonso, Luz; Arnold, Stacey; Sribudiani, Yunia; Antiñolo Gil, Guillermo; Borrego, Salud (BMC, 2013)

Despite it has been reported that several loci are involved in Hirschsprung’s disease, the molecular basis of the disease ...