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