Investigación

Investigadores HSJD

Buscador de publicaciones

Publicaciones

  • 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): . Nº de citas: 16

    [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. Nº de citas: 15

    [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: . Nº de citas: 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. Nº de citas: 141

    [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: . Nº de citas: 7

    [doi:10.2340/00015555-3608]

  • Cubiro, X, Rozas-Munoz, E, Castel, P, Crespo, ER, Garcia-Melendo, C, Puig, L and Baselga E.

    Clinical and genetic evaluation of six children with diffuse capillary malformation and undergrowth

    PEDIATRIC DERMATOLOGY . 37(5): 833-838. Nº de citas: 11

    [doi:10.1111/pde.14252]

  • 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. Nº de citas: 259

    [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. Nº de citas: 7

    [doi:10.20960/nh.03357]

  • Boix-Vilanova J, Baselga E, Vera A, Gonzalez-Hermosa MDR, Azaña JM and Martin-Santiago A.

    Expanding the phenotypes of congenital hemangiomas

    PEDIATRIC DERMATOLOGY . 37(5): 872-876. Nº de citas: 4

    [doi:10.1111/pde.14231]

  • 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. Nº de citas: 3

    [doi:10.1136/jmedgenet-2019-106296]