A novel study of Copy Number Variations in Hirschsprung disease using the Multiple Ligation-dependent Probe Amplification (MLPA) technique

by Antiñolo Guillermo, López-Alonso Manuel, Fernández Raquel M, Núñez-Torres Rocío, Borrego Salud
Published 2009-11-01

Novel MLPA procedure using self-designed probes allows comprehensive analysis for CNVs of the genes involved in Hirschsprung disease

by Antiñolo Guillermo, Fernández Raquel M, Núñez-Torres Rocio, Sánchez-Mejías Avencia, Borrego Salud
Published 2010-05-01

Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 region

by Antiñolo Guillermo, González-Meneses Antonio, Núñez-Torres Rocío, Fernández Raquel M, Borrego Salud
Published 2010-09-01

Comprehensive analysis of <it>RET </it>common and rare variants in a series of Spanish Hirschsprung patients confirms a synergistic effect of both kinds of events

by Castaño Luis, Carlos de Agustín Juan, Marbá Martina, Enguix-Riego Maria del Valle, Acosta Manuel, Fernández Raquel M, Núñez-Torres Rocio, Antiñolo Guillermo, Borrego Salud
Published 2011-10-01

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

by Fernández Raquel Ma, Bleda Marta, Núñez-Torres Rocío, Medina Ignacio, Luzón-Toro Berta, García-Alonso Luz, Torroglosa Ana, Marbà Martina, Enguix-Riego Ma Valle, Montaner David, Antiñolo Guillermo, Dopazo Joaquín, Borrego Salud
Published 2012-12-01