Overexpression of DNMT3b target genes during Enteric Nervous System development contribute to the onset of Hirschsprung disease

por Leticia Villalba-Benito, Ana Torroglosa, Raquel María Fernández, Macarena Ruíz-Ferrer, María José Moya-Jiménez, Guillermo Antiñolo, Salud Borrego
Publicado 2017

Comprehensive analysis of NRG1 common and rare variants in Hirschsprung patients.

por Berta Luzón-Toro, Ana Torroglosa, Rocío Núñez-Torres, María Valle Enguix-Riego, Raquel María Fernández, Juan Carlos de Agustín, Guillermo Antiñolo, Salud Borrego
Publicado 2012

Chromosome 21 scan in Down syndrome reveals DSCAM as a predisposing locus in Hirschsprung disease.

por Anne-Sophie Jannot, Anna Pelet, Alexandra Henrion-Caude, Asma Chaoui, Marine Masse-Morel, Stacey Arnold, Damien Sanlaville, Isabella Ceccherini, Salud Borrego, Robert M W Hofstra, Arnold Munnich, Nadège Bondurand, Aravinda Chakravarti, Françoise Clerget-Darpoux, Jeanne Amiel, Stanislas Lyonnet
Publicado 2013