People / Staff

Anna Ruiz Llobet

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Publications

  • Bardón Cancho EJ, García-Morín M, Beléndez C, Velasco P, Benéitez D, Ruiz-Llobet A, Berrueco R, Argilés B, Cervera Á, Salinas JA, Vecilla C, Gondra A, Vallés G, Murciano T, Bermúdez M and Cela E.

    Update of the Spanish registry of haemoglobinopathies in children and adults

    MEDICINA CLINICA . 155(3): 95-103. Number of citations: 12

    [doi:10.1016/j.medcli.2019.10.011]

  • Rey-Barroso L, Roldan-Molina M, Burgos-Fernández FJ, Gassiot S, Ruiz-Llobet A, Isola I and Vilaseca MA.

    Spectroscopic Evaluation of Red Blood Cells of Thalassemia Patients with Confocal Microscopy: A Pilot Study

    SENSORS . 20(14): . Number of citations: 6

    [doi:10.3390/s20144039]

  • Bogliolo M, Pujol R, Aza-Carmona M, Muñoz-Subirana N, Rodriguez-Santiago B, Casado JA, Rio P, Bauser C, Reina-Castillón J, Lopez-Sanchez M, Gonzalez-Quereda L, Gallano P, Català-Temprano A, Ruiz-Llobet A, Badell I, Diaz-Heredia C, Hladun R, Senent L, Argiles B, Bergua Burgues JM, Bañez F, Arrizabalaga B, López Almaraz R, Lopez M, Figuera Á, Molinés A, Pérez de Soto I, Hernando I, Muñoz JA, Del Rosario Marin M, Balmaña J, Stjepanovic N, Carrasco E, Cuesta I, Cosuelo JM, Regueiro A, Moraleda Jimenez J, Galera-Miñarro AM, Rosiñol L, Carrió A, Beléndez-Bieler C, Escudero Soto A, Cela E, de la Mata G, Fernández-Delgado R, Garcia-Pardos MC, Sáez-Villaverde R, Barragaño M, Portugal R, Lendinez F, Hernadez I, Vagace JM, Tapia M, Nieto J, Garcia M, Gonzalez M, Vicho C, Galvez E, Valiente A, Antelo ML, Ancliff P, Garcia F, Dopazo J, Sevilla J, Paprotka T, Pérez-Jurado LA, Bueren J and Surralles J.

    Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies

    JOURNAL OF MEDICAL GENETICS . 57(4): 258-268. Number of citations: 17

    [doi:10.1136/jmedgenet-2019-106249]

  • Ruiz-Llobet A, Isola I, Gassiot S, Català-Temprano A, Díaz-Ricart M, Martinez-Monseny T, Serrano M and Berrueco R.

    Platelet Dysfunction in Noonan and 22q11.2 Deletion Syndromes in Childhood

    THROMBOSIS AND HAEMOSTASIS . 120(3): 457-465. Number of citations: 3

    [doi:10.1055/s-0040-1701239]

  • Pérez-Grijalba V, Arbizu J, Romero J, Prieto E, Pesini P, Sarasa L, Guillen F, Monleón I, San-José I, Martínez-Lage P, Munuera-del Cerro JL, Hernández I, Buendía M, Sotolongo-Grau O, Alegret M, Ruiz-Llobet A, Tárraga L, Boada M and Sarasa M.

    Plasma A beta 42/40 ratio alone or combined with FDG-PET can accurately predict amyloid-PET positivity: a cross-sectional analysis from the AB255 Study

    ALZHEIMERS RESEARCH & THERAPY . 11(1): 96-96. Number of citations: 34

    [doi:10.1186/s13195-019-0549-1]

  • Arias-Salgado EG, Galvez E, Planas-Cerezales L, Pintado-Berninches L, Vallespin E, Martinez P, Carrillo J, Iarriccio L, Ruiz-Llobet A, Català-Temprano A, Badell-Serra I, Gonzalez-Granado LI, Martín-Nalda A, Martínez-Gallo M, Galera-Miñarro A, Rodríguez-Vigil C, Bastos-Oreiro M, Perez de Nanclares G, Leiro-Fernández V, Uria ML, Diaz-Heredia C, Valenzuela C, Martín S, López-Muñiz B, Lapunzina P, Sevilla J, Molina-Molina M, Perona R and Sastre L.

    Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes.

    ORPHANET JOURNAL OF RARE DISEASES . 14(1): 82-82. Number of citations: 17

    [doi:10.1186/s13023-019-1046-0]

  • Vega-García N, Malatesta R, Estella-Aguado MC, Pérez-Jaume S, Esperanza-Cebollada E, Torrebadell-Burriel M, Català-Temprano A, Gassiot S, Berrueco R, Ruiz-Llobet A, Alonso-Saladrigues A, Mesegue-Meda M, Pont-Martí S, Rives-Solà S and Camós-Guijosa M.

    Paediatric patients with acute leukaemia and KMT2A (MLL) rearrangement show a distinctive expression pattern of histone deacetylases

    BRITISH JOURNAL OF HAEMATOLOGY . 182(4): 542-553. Number of citations: 7

    [doi:10.1111/bjh.15436]

  • Llaudet-Planas E, Vives-Corrons JL, Rizzuto V, Gómez-Ramírez P, Sevilla Navarro J, Coll Sibina MT, García-Bernal M, Ruiz-Llobet A, Badell-Serra I, Velasco-Puyó P, Dapena JL and Mañú-Pereira MM.

    Osmotic gradient ektacytometry: A valuable screening test for hereditary spherocytosis and other red blood cell membrane disorders.

    INT J LAB HEMATOL . 40(1): 94-102. Number of citations: 51

    [doi:10.1111/ijlh.12746]

  • Cela E, Bellón JM, de la Cruz M, Beléndez C, Berrueco R, Ruiz-Llobet A, Elorza I, Díaz de Heredia C, Cervera A, Vallés G, Salinas JA, Coll MT, Bermúdez M, Prudencio M, Argilés B and Vecilla C.

    National registry of hemoglobinopathies in Spain (REPHem)

    PEDIATRIC BLOOD & CANCER . 64(7): . Number of citations: 27

    [doi:10.1002/pbc.26322]

  • Berrueco R, Alonso-Saladrigues A, Martorell-Sampol L, Català-Temprano A, Ruiz-Llobet A, Toll T, Torrebadell-Burriel M, Naudo-Lahoz M, Camós-Guijosa M and Rives-Solà S.

    Outcome and toxicities associated to chemotherapy in children with acute lymphoblastic leukemia and Gilbert syndrome. Usefulness of UGT1A1 mutational screening

    PEDIATRIC BLOOD & CANCER . 62(7): 1195-1201. Number of citations: 8

    [doi:10.1002/pbc.25457]