SOX2 haploinsufficiency is associated with slow progressing hypothalamo-pituitary tumours

por Alatzoglou, Kyriaki S, Andoniadou, Cynthia L, Kelberman, Daniel, Buchanan, Charles R, Crolla, John, Arriazu, Maria Cristina, Roubicek, Martin, Moncet, Daniel, Martinez-Barbera, Juan P, Dattani, Mehul T
Publicado 2011

THU080 Splicing Machinery Dysregulation As A Source Of Novel Diagnostic, Prognostic And Therapeutic Targets In Craniopharyngiomas

por Fuentes-Fayos, Antonio C, Garcia-Garcia, Miguel E, Cano, David, Martínez-Fuentes, Antonio J, Di Caro, Isidoro, Gahete, Manuel D, Castaño, Justo P, Martínez-Barbera, Juan P, Soto-Moreno, Alfonso, Galvez-Moreno, Maria A, Jimenez-Vacas, Juan M, Luque, Raul M
Publicado 2023

Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement

por Sun, Yu, Bak, Beata, Schoenmakers, Nadia, van Trotsenburg, A.S. Paul, Oostdijk, Wilma, Voshol, Peter, Cambridge, Emma, White, Jacqueline K., le Tissier, Paul, Gharavy, S. Neda Mousavy, Martinez-Barbera, Juan P., Stokvis-Brantsma, Wilhelmina H., Vulsma, Thomas, Kempers, Marlies J., Persani, Luca, Campi, Irene, Bonomi, Marco, Beck-Peccoz, Paolo, Zhu, Hongdong, Davis, Timothy M.E., Hokken-Koelega, Anita C.S., Del Blanco, Daria Gorbenko, Rangasami, Jayanti J., Ruivenkamp, Claudia A.L., Laros, Jeroen F.J., Kriek, Marjolein, Kant, Sarina G., Bosch, Cathy A.J., Biermasz, Nienke R., Appelman-Dijkstra, Natasha M., Corssmit, Eleonora P., Hovens, Guido C.J., Pereira, Alberto M., den Dunnen, Johan T., Wade, Michael G., Breuning, Martijn H., Hennekam, Raoul C., Chatterjee, Krishna, Dattani, Mehul T., Wit, Jan M., Bernard, Daniel J.
Publicado 2012