Browsing by Author "Fuster-García, Carla"

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  • Cryptic insertions of the immunoglobulin light chain enhancer region near CCND1 in t(11;14)-negative mantle cell lymphoma
    Fuster-García, Carla; Martín-García, David; Balagué, Olga; Navarro, Alba; Nadeu, Ferran; Costa, Dolors; Prieto, Miriam; Salaverria, Itziar; Espinet Solà, Blanca; Rivas-Delgado, Alfredo; Terol, María-José; Giné, Eva; Forcada, Pilar; Ashton-Key, Margaret; Puente, Xosé S.; Swerdlow, Steven H.; Beà, Sílvia; Campo, Elias (Ferrata Storti Foundation, 2020)
  • Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment
    García-García, Gema; Sanchez-Navarro, Iker; Aller, Elena; Jaijo, Teresa; Fuster-García, Carla; Rodríguez-Munoz, Ana; Vallejo, Elena; Tellería, Juan José; Vázquez, Selma; Beltran, Sergi; Derdak, Sophia; Zurita, Olga; Villaverde-Montero, Cristina; Avila-Fernández, Almudena; Cortón, Marta; Blanco-Kelly, Fiona; Hakonarson, Hakon; Millán, José M.; Ayuso, Carmen (Molecular Vision, 2020)
    PURPOSE: The aim of the present work is the molecular diagnosis of three patients with deafness and retinal degeneration. METHODS: Three patients from two unrelated families were initially analyzed with custom gene panels ...