Research

HSJD researchers

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Publications

  • 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]

  • Carcavilla A, Suárez L, Ramon-Krauel M, Ezquieta-Zubicaray B, Labarta JI, Quinteiro S, Rodríguez-Sánchez A, López-Siguero JP, Riaño I and González-Casado I.

    Tratamiento con hormona de crecimiento en el síndrome de Noonan: revisión de la bibliografía y recomendaciones de tratamiento

    Revista Española de Endocrinología Pediátrica . 11(1): 23-39.

    [doi:10.3266/RevEspEndocrinolPediatr.pre2020.Jul.584]

  • Bossacoma F, Cuadrado-Vilanova M, Vinent-Genestar J, Correa MG, Gavrus D, Castillo H, Català-Mora J, Mora J, Schaiquevich P, Chantada G and Carcaboso AM.

    Optimizing the storage of chemotherapeutics for ophthalmic oncology: stability of topotecan solution for intravitreal injection

    OPHTHALMIC GENETICS . 41(4): 397-400. Number of citations: 2

    [doi:10.1080/13816810.2020.1776336]

  • 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. Number of citations: 9

    [doi:10.1111/pde.14252]

  • Garcia-Aparicio L, Blazquez-Ruiz FJ, Martín Solé O, Rojas-Ticona J, Moraleda I, Tarrado X and Pérez-Bertólez S.

    Our experience with laparoscopic Anderson-Hynes ureteropyeloplasty.

    Cirugia pediatrica : organo oficial de la Sociedad Espanola de Cirugia Pediatrica . 33(3): 131-136.

  • Carcavilla A, Suárez L, Rodríguez Sánchez A, Gonzalez-Casado I, Ramon-Krauel M, Labarta JI, Quinteiro Gonzalez S, Riaño Galán I and López-Siguero JP.

    Noonan syndrome: genetic and clinical update and treatment options

    ANALES DE PEDIATRIA . 93(1): . Number of citations: 22

    [doi:10.1016/j.anpedi.2020.04.008]

  • Eggermann T, Elbracht M, Kurth I, Juul A, Johannsen TH, Netchine I, Mastorakos G, Johannsson G, Musholt TJ, Zenker M, Prawitt D, Pereira AM, Hiort O and European Reference Network on Rare Endocrine Conditions (ENDO-ERN.

    Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN)

    ORPHANET JOURNAL OF RARE DISEASES . 15(1): 144-144. Number of citations: 17

    [doi:10.1186/s13023-020-01420-w]