Research

HSJD researchers

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Publications

  • 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]

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

    Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial

    Lancet . 396(10252): 684-692. Number of citations: 130

    [doi:10.1016/S0140-6736(20)31541-5]

  • Diociaiuti A, Carnevale C, Baselga E, Léauté-Labrèze C, Neri I, Rotunno R, Figà-Talamanca L and El Hachem M.

    Cutaneous Infantile Haemangiomas with Intracranial and Intraspinal Involvement: A European Multicentre Experience and Review

    ACTA DERMATO-VENEREOLOGICA . 100: . Number of citations: 5

    [doi:10.2340/00015555-3608]

  • Lamberink HJ, Otte WM, Blümcke I, Braun KPJ, European Epilepsy Brain Bank writing group, study group and European Reference Network EpiCARE.

    Seizure outcome and use of antiepileptic drugs after epilepsy surgery according to histopathological diagnosis: a retrospective multicentre cohort study.

    LANCET NEUROLOGY . 19(9): 748-757. Number of citations: 240

    [doi:10.1016/S1474-4422(20)30220-9]

  • Termes Escalé M, Martínez Chicano D, Natalia Egea Castillo, Gutiérrez A, García Arenas D, Llata Vidal N and Martín-de-Carpi J.

    Nutritional education in school-age children through Programa Nutriplato®

    NUTRICION HOSPITALARIA . 37: 47-51. Number of citations: 5

    [doi:10.20960/nh.03357]

  • Gadea A, Hernandez-Muñoz MI, Vicente-Villa MA, Andrades E, García-Calvente M, Camacho L, Fernandez-Rodríguez C, Bellosillo B, Pujol R and Toll A.

    Molecular characterisation of oncogenic urothelial mosaic mutations in patients with extensive keratinocytic epidermal naevi.

    JOURNAL OF MEDICAL GENETICS . 57(9): 601-604. Number of citations: 3

    [doi:10.1136/jmedgenet-2019-106296]

  • Bosch-Alcaraz A, Jordán-García I, Rodríguez-Martín D and Falcó A.

    Meaning and comfort factors in the paediatric intensive care unit from an adult perspective: a descriptive phenomenological study

    SCANDINAVIAN JOURNAL OF CARING SCIENCES . 34(3): 627-635. Number of citations: 3

    [doi:10.1111/scs.12764]

  • Mondejar-Lopez P, Quintana-Gallego E, Giron-Moreno RM, Cortell-Aznar I, Ruiz de Valbuena-Maiz M, Diab-Caceres L, Prados-Sanchez C, Alvarez-Fernandez A, Garcia-Marcos PW, Peñalver-Mellado C, Pastor-Vivero MD, Olveira C, Lopez-Neyra A, Castillo-Corullon S, Palma-Milla S, Perez-Ruiz E, Sole-Jover A, Barrio MI, Sanchez-Solis M and Asensio de la Cruz Ó.

    Impact of SARS-CoV-2 infection in patients with cystic fibrosis in Spain: Incidence and results of the national CF-COVID19-Spain survey.

    RESPIRATORY MEDICINE . 170: 106062-106062. Number of citations: 36

    [doi:10.1016/j.rmed.2020.106062]

  • Sentchordi-Montané L, Benito-Sanz S, Aza-Carmona M, Pereda A, Parrón M, de la Torre C, Vasques GA, Funari MFA, Travessa AM, Dias P, Suárez L, González-Buitrago J, Portillo-Najera NE, Llano-Rivas I, Martín-Frías M, Ramírez-Fernández J, Sánchez Del Pozo J, Garzón-Lorenzo L, Martos-Moreno GA, Alfaro-Iznaola C, Mulero-Collantes I, Ruiz-Ocaña P, Casano-Sancho P, Portela A, Ruiz-Pérez L, Del Pozo A, Vallespín E, Solís M, Lerario AM, González-Casado I, Ros-Pérez P, Pérez de Nanclares G, Jorge AAL and Heath KE.

    Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants

    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM . 105(8): 2654-2666. Number of citations: 7

    [doi:10.1210/clinem/dgaa218]