Investigación

Genómica Traslacional

Buscador de publicaciones

Publicaciones

  • Cristina Larrosa Espinosa, Simao-Rafael M, Salvador-Marcos N, Muñoz JP, Lavarino C, Chantada G and Mora J.

    Case Report: Successful treatment of metastatic retinoblastoma with CNS involvement with anti-GD2 immunotherapy, intrathecal topotecan and reduced systemic chemotherapy

    Frontiers in pediatrics . 12: 1509645-1509645.

    [doi:10.3389/fped.2024.1509645]

  • Planas-Roman S, Salvador-Marcos N, Lavarino C, Zuccarino F, Pereda D, Muñoz JP and Aurensanz E.

    Hamartoma of mature cardiac myocytes presenting as a polypoid epicardial tumor in the interatrial groove and with gene fusions by copy number anomalies of chromosome 7

    CARDIOVASCULAR PATHOLOGY . 73: 107660-107660. Nº de citas: 1

    [doi:10.1016/j.carpath.2024.107660]

  • Chirica M, Jurmeister P, Teichmann D, Koch A, Perez E, Schmid S, Simon M, Driever PH, Bodden C, van Tilburg CM, Hardin EC, Lavarino C, Hench J, Scheie D, Cryan J, Vicha A, Buttarelli FR, Michiels A, Haberler C, Barahona P, Tops BBJ, Jacques T, Stokland T, Witt O, Jones DTW and Capper D.

    DNA methylation-array interlaboratory comparison trial demonstrates highly reproducible paediatric CNS tumour classification across 13 international centres.

    NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY . 50(5): .

    [doi:10.1111/nan.13010]

  • Camiña-Conforto G, Ivars M, Sarquella-Brugada G, Carlos Valera Dávila, Salvador-Hernandez H, Rovira-Zurriaga C and Baselga E.

    Phacomatosis pigmentokeratotica: Exploring extracutaneous comorbidities and topical therapy

    PEDIATRIC DERMATOLOGY . 41(5): 904-907.

    [doi:10.1111/pde.15632]

  • Sánchez-Espino LF, Ivars M, Prat-Torres CS, Lavarino C, Gene-Olaciregui N, Rovira-Zurriaga C, Celis-Passini V, Miguel Bejarano Serrano and Baselga E.

    Single dominant lesion in capillary malformation-arteriovenous malformation (CM-AVM) RASA1 syndrome.

    PEDIATRIC DERMATOLOGY . 41(5): 861-865.

    [doi:10.1111/pde.15598]

  • Sanchez-Guixe E, Muiños F, Pinheiro-Santin M, González-Huici V, Rodriguez-Hernandez CJ, Avgustinova A, Lavarino C, González- Pérez A, Mora J and López-Bigas N.

    Origins of Second Malignancies in Children and Mutational Footprint of Chemotherapy in Normal Tissues

    CANCER DISCOVERY . 14(6): 953-964. Nº de citas: 4

    [doi:10.1158/2159-8290.CD-23-1186]

  • De Bortoli M, Ivars M, Revencu N, Nassogne MC, Lavarino C, Paco-Mercader S, Lammens M, Renders A, Dumitriu D, Helaers R, Boon LM, Baselga E and Vikkula M.

    Epilepsy with faint capillary malformation or reticulated telangiectasia associated with mosaic AKT3 pathogenic variants

    AMERICAN JOURNAL OF MEDICAL GENETICS PART A . 194(6): . Nº de citas: 2

    [doi:10.1002/ajmg.a.63551]

  • Revencu N, Eijkelenboom A, Bracquemart C, Alhopuro P, Armstrong-Moron J, Baselga E, Cesario C, Dentici ML, Eyries M, Frisk S, Karstensen HG, Gene-Olaciregui N, Kivirikko S, Lavarino C, Mero IL, Michiels R, Pisaneschi E, Schönewolf-Greulich B, Wieland I, Zenker M and Vikkula M.

    Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA.

    ORPHANET JOURNAL OF RARE DISEASES . 19(1): 213-213. Nº de citas: 2

    [doi:10.1186/s13023-024-03196-9]

  • Gorostegui M, Muñoz JP, Pérez-Jaume S, Simao-Rafael M, Cristina Larrosa Espinosa, Garraus-Oneca M, Salvador-Marcos N, Lavarino C, Krauel L, Mañe S, Castañeda-Heredia A and Mora J.

    Management of High-Risk Neuroblastoma with Soft-Tissue-Only Disease in the Era of Anti-GD2 Immunotherapy

    Cancers . 16(9): . Nº de citas: 1

    [doi:10.3390/cancers16091735]

  • Fresno Cañada C, Gispets Parcerisas J, Del Prado-Sanchez C, Puigventós E, Pérez-Jaume S, Salvador-Hernandez H, Llorca Cardeñosa A and Prat-Bartomeu J.

    DRI Triton SS-OCT applied to detect choroidal nodules in paediatric patients affected by NF1.

    Heliyon . 10(8): .

    [doi:10.1016/j.heliyon.2024.e29263]