Sobre el grupo
Investigador Principal
Juan Pié Juste
Equipo
Ana Latorre Pellicer, Ángela Marina Ascaso Matamala, Ariadna Ayerza Casas, Beatriz Puisac Uriol, Cristina Tania Lucia Campos, Elena Muñoz Jalle, Feliciano Ramos Fuentes, Laura Trujillano Lidon, León Remón Garijo, Luis Carmen Sampériz, M Concepción Gil Rodríguez, Mª Antonia Concellón Doñate, Mª Luisa Bernal Ruíz, Marta Gil Salvador, Pilar Pamplona Valenzuela, Rebeca Antoñanzas Pérez
Universidad de Zaragoza
Líneas de Investigación
Diagnóstico clínico y genético de síndromes polimalformativos y/o que cursan con retraso mental y deficiencias enzimáticas que afectan a la síntesis de cuerpos cetónicos
Publicaciones más relevantes
Matamala A, Biain M, Ferruz R, Elfau M, Garcia G. Duct ectasia, an infrequent condition in childhood. A case report. Arch. Argent. Pediatr.. 2018. 116(6): 782 - 784. 10.5546/aap.2018.e782.
Ayerza-Casas A, Puisac-Uriol B, Pie-Juste J. Cornelia de Lange syndrome: Ventricular size and function in six children without congenital heart defects.. Med Clin (Barc). 2018. . 10.1016/j.medcli.2018.10.001.
Kline A, Moss J, Selicorni A, Bisgaard A, Deardorff M, Gillett P, Ishman S, Kerr L, Levin A, Mulder P, Ramos F, Wierzba J, Ajmone P, Axtell D, Blagowidow N, Cereda A, Costantino A, Cormier-Daire V, FitzPatrick D, Grados M, Groves L, Guthrie W, Huisman S, Kaiser F, Koekkoek G, Levis M, Mariani M, McCleery J, Menke L, Metrena A, O'Connor J, Oliver C, Pie J, Piening S, Potter C, Quaglio A, Redeker E, Richman D, Rigamonti C, Shi A, Tumer Z, Van Balkom I, Hennekam R. Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement. Nat Rev Genet. 2018. 19(10): 649 - 666. 10.1038/s41576-018-0031-0.
Aznar E, Casas A, Montanes L, Escribano M, Aizpun J, Villagrasa P. Use of speckle tracking in the evaluation of late subclinical myocardial damage in survivors of childhood acute leukaemia. Int J Cardiovasc Imaging. 2018. 34(9): 1373 - 1381. 10.1007/s10554-018-1346-9.
Aznar E, Casas A, Escribano M, Montanes L, Aizpun J, Villagrasa P. Echocardiographic evolution of left ventricular function in childhood leukemia survivors. Curr Probl Cancer. 2018. 42(4): 397 - 408. 10.1016/j.currproblcancer.2018.07.012.
Puisac B, Marcos-Alcalde I, Hernandez-Marcos M, Morlana P, Levtova A, Schwahn B, DeLaet C, Lace B, Gomez-Puertas P, Pie J. Human Mitochondrial HMG-CoA Synthase Deficiency: Role of Enzyme Dimerization Surface and Characterization of Three New Patients. Int. J. Mol. Sci.. 2018. 19(4): 1010. 10.3390/ijms19041010.
Alsina M, Rivera F, Ramos F, Galan M, Lopez R, Garcia-Alfonso P, Ales-Martinez J, Queralt B, Anton A, Carrato A, Gravalos C, Mendez-Vidal M, Lopez C, de Mena I, Tabernero J, Giralt J, Aranda E, Spanish Cooperative Grp Treatment, GICOR. A phase II Study Evaluating Combined Neoadjuvant Cetuximab and Chemotherapy Followed by Chemoradiotherapy and Concomitant Cetuximab in Locoregional Oesophageal Cancer Patients. Target. Oncol.. 2018. 13(1): 69 - 78. 10.1007/s11523-017-0536-z.