Research

HSJD researchers

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Publications

  • Savarirayan, R, Tofts, L, Irving, M, Wilcox, W, Bacino, C, Hoover-Fong, J, Rosendo Ullot Font, Harmatz, P, Rutsch, F, Bober, M, Polgreen, L, Ginebreda, I, Mohnike, K, Charrow, J, Hoernschmeyer, D, Ozono, K, Alanay, Y, Arundel, P, Kagami, S, Yasui, N, White, K, Saal, H, Leiva-Gea, A, Luna-Gonzalez, F, Mochizuki, H, Basel, D, Porco, D, Jayaram, K, Fisheleva, E, Huntsman-Labed, A and Day, J.

    A Randomized Controlled Trial of Vosoritide in Children with Achondroplasia

    JOURNAL OF BONE AND MINERAL RESEARCH . 35: 18-18.

    [doi:10.1159/000509566]

  • Baz-Redón N, Rovira-Amigo S, Fernández-Cancio M, Castillo-Corullón S, Cols M, Caballero-Rabasco MA, Asensio Ó, Martín de Vicente C, Martínez-Colls MDM, Torrent-Vernetta A, de Mir-Messa I, Gartner S, Iglesias-Serrano I, Díez-Izquierdo A, Polverino E, Amengual-Pieras E, Amaro-Rodríguez R, Vendrell M, Mumany M, Pascual-Sánchez MT, Pérez-Dueñas B, Reula A, Escribano A, Dasí F, Armengot-Carceller M, Garrido-Pontnou M, Camats-Tarruella N and Moreno-Galdó A.

    Immunofluorescence Analysis as a Diagnostic Tool in a Spanish Cohort of Patients with Suspected Primary Ciliary Dyskinesia

    Journal of Clinical Medicine . 9(11): . Number of citations: 14

    [doi:10.3390/jcm9113603]

  • Bosch-Alcaraz A, Jordán-García I, Benito-Aracil L, Saz-Roy M and Falcó A.

    Discomfort of the critically ill paediatric patient and correlated variables

    AUSTRALIAN CRITICAL CARE . 33(6): 504-510. Number of citations: 2

    [doi:10.1016/j.aucc.2020.02.009]

  • Jiménez Treviño S, Pujol G, Martín-Masot R, Rodríguez Martínez A, Segarra Cantón O, Peña Quintana L, Armas Ramos H, Eizaguirre Arocena FJ, Barrio Torres J, García Burriel JI, Ortigosa Castillo L, Donat Aliaga E, Crujeiras Martínez V, Barros García P, Botija Arcos G, Bartolomé Porro JM, Juste Ruiz M, Ochoa Sangrador C, García Casales Z, Galicia Poblet G, Oliver Goicolea P, Lorenzo Garrido H, García Romero R, La Orden Izquierdo E, Pérez Solis D, Navas-López VM, Díaz Martin JJ and Martín-de-Carpi J.

    Spanish Pediatric Inflammatory Bowel Disease Diagnostic Delay Registry: SPIDER Study From Sociedad Espanola de Gastroenterologia, Hepatologia y Nutricion Pediatrica

    Frontiers in pediatrics . 8: 584278-584278. Number of citations: 10

    [doi:10.3389/fped.2020.584278]

  • Rodríguez-Villalba R, Caballero-Borrego M, Villarraga V, Rivero de Jesús V, Clavería MA and Haag OH.

    Vestibulo-ocular reflex assessed with Video Head Impulse Test in children with Vestibular Migraine: Our experience

    INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY . 137: 110161-110161. Number of citations: 7

    [doi:10.1016/j.ijporl.2020.110161]

  • Martín-Nalda A, Fortuny-Guasch C, Rey L, Bunney TD, Alsina L, Esteve-Solé A, Bull D, Anton MC, Basagaña M, Casals F, Deyá A, García-Prat M, Gimeno R, Juan-Otero M, Martinez-Banaclocha H, Martinez-Garcia JJ, Mensa-Vilaró A, Rabionet-Janssen R, Martin-Begue N, Rudilla F, Yagüe-Ribes J, Estivill X, García-Patos V, Pujol RM, Soler-Palacín P, Katan M, Pelegrín P, Colobran R, Vicente-Villa MA and Arostegui-Gorospe JI.

    Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations

    JOURNAL OF CLINICAL IMMUNOLOGY . 40(7): 987-1000. Number of citations: 40

    [doi:10.1007/s10875-020-00794-7]

  • Rojas-Lechuga MJ, Remacha J, González-Sánchez N, Grau JJ, Castillo P, Haag OH and Vilaseca I.

    Juvenile recurrent respiratory papillomatosis treated with combined erlotinib and celecoxib: Initial report

    INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY . 137: 110194-110194. Number of citations: 6

    [doi:10.1016/j.ijporl.2020.110194]

  • Youssef L, Erlandsson L, Åkerström B, Miranda J, Paules C, Crovetto F, Crispi F, Gratacós E and Hansson SR.

    Hemopexin and a1-microglobulin heme scavengers with differential involvement in preeclampsia and fetal growth restriction

    PLoS One . 15(9): . Number of citations: 15

    [doi:10.1371/journal.pone.0239030]

  • Gálvez V, Chacón-Solano E, Bonafont J, Mencía Á, Di WL, Murillas R, Llames S, Vicente-Villa MA, Del Rio M, Carretero M and Larcher F.

    Efficient CRISPR-Cas9-Mediated Gene Ablation in Human Keratinocytes to Recapitulate Genodermatoses: Modeling of Netherton Syndrome

    Molecular Therapy-Methods & Clinical Development . 18: 280-290. Number of citations: 14

    [doi:10.1016/j.omtm.2020.05.031]

  • Amigo, SR, Redon, NB, Tarruella, NC, Cancio, MF, Paramonov, I, Corullon, SC, Cols M, Caballero, A, De Vicente, CM, Asensio, O, Reula, A, Escribano, A, Dasi, F, Carceller, MA, Tizzano, E and Galdo, AM.

    Implementation of a gene panel for the genetic diagnosis of primary ciliary dyskinesia

    EUROPEAN RESPIRATORY JOURNAL . 56: . Number of citations: 1

    [doi:10.1183/13993003.congress-2020.5293]