Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2
Zazo Seco, Celia; Serrao de Castro, Luciana; van Nierop, Josephine W.; Morín, Matías; Jhangiani, Shalini; Verver, Eva J.J.; Schraders, Margit; Maiwald, Nadine; Wesdorp, Mieke; Venselaar, Hanka; Spruijt, Liesbeth; Oostrik, Jaap; Schoots, Jeroen; Baylor-Hopkins Center for Mendelian Genomics; van Reeuwijk, Jeroen; Lelieveld, Stefan H.; Huygen, Patrick L.M.; Insenser, María; Admiraal, Ronald J.C.; Pennings, Ronald J.E.; Hoefsloot, Lies H.; Arias Vásquez, Alejandro; de Ligt, Joep; Yntema, Helger G.; Jansen, Joop H.; Muzny, Donna M.; Huls, Gerwin; van Rossum, Michelle M.; Lupski, James R.; Moreno Pelayo, Miguel Angel; Kunst, Henricus P.M.; Kremer, HannieFecha:2015-11
A leaky mutation in CD3D differentially affects ¿¿ and ¿¿ T cells and leads to a T¿¿¿T¿¿+B+NK+ human SCID
Gil, Juana; Busto, Elena M.; Garcillán, Beatriz; Chean, Carmen; García Rodríguez, Maria Cruz; Díaz Alderete, Andrea; Navarro, Joaquín; Reiné, Jesús; Mencía, Angeles; Gurbindo, Dolores; Beléndez, Cristina; Gordillo, Isabel; Duchniewicz, Marlena; Höhne, Kerstin; García Sánchez, Félix; Fernández Cruz, Eduardo; López Granados, Eduardo; Schamel, Wolfgang W.A.; Moreno Pelayo, Miguel Angel; Recio, María J.; Regueiro, José R.Fecha:2011-10
DFNA8/12 Caused by TECTA Mutations is the Most Identified Subtype of Non-syndromic Autosomal Dominant Hearing Loss
Hildebrand, Michael S.; Morín, Matías; Meyer, Nicole C.; Mayo, Fernando; Modamio Hoybjor, Silvia; Mencía, Angeles; Olavarrieta, Leticia; Morales Angulo, Carmelo; Nishimura, Carla J.; Workman, Heather; DeLuca, Adam P.; del Castillo, Ignacio; Taylor, Kyle R.; Tompkins, Bruce; Goodman, Corey W.; Schrauwen, Isabelle; Van Wesemael, Maarten; Lachlan, K.; Shearer, A. Eliot; Braun, Terry A.; Huygen, Patrick L.M.; Kremer, Hannie; Van Camp, Guy; Moreno, Felipe; Casavant, Thomas L.; Smith, Richard J.H.; Moreno Pelayo, Miguel AngelFecha:2011-07