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Publicaciones

  • Pinto EM, Fridman C, Figueiredo BC, Salvador-Hernandez H, Teixeira MR, Pinto C, Pinheiro M, Kratz CP, Lavarino C, Legal EAMF, Le A, Kelly G, Koeppe E, Stoffel EM, Breen K, Hahner S, Heinze B, Techavichit P, Krause A, Ogata T, Fujisawa Y, Walsh MF, Rana HQ, Maxwell KN, Garber JE, Rodriguez-Galindo C, Ribeiro RC and Zambetti GP.

    Multiple TP53 p.R337H haplotypes and implications for tumor susceptibility

    Human Genetics and Genomics Advances . 5(1): 100244-100244.

    [doi:10.1016/j.xhgg.2023.100244]

  • Simao-Rafael M, Cruz-Martínez O, Pérez-Jaume S, Santa-María López V, Lavarino C, Salvador-Hernandez H, Muchart-Lopez J, Hinojosa J, Suñol M and Morales-La Madrid A.

    Use of bevacizumab in pediatric low-grade glioma: Ten-year experience in a single center

    EJC Paediatric Oncology . 2: 100115.

    [doi:10.1016/j.ejcped.2023.100115]

  • Carton, C, Evans, DG, Blanco, I, Friedrich, RE, Ferner, RE, Farschtschi, S, Salvador-Hernandez H, Azizi, AA, Mautner, V, Rohl, C, Peltonen, S, Stivaros, S, Legius, E and Oostenbrink, R.

    ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1

    EClinicalMedicine . 56: . Nº de citas: 18

    [doi:10.1016/j.eclinm.2022.101818]

  • Parada-Avendaño I, Salvador-Hernandez H, García RG, Martorell-Sampol L, García-Fontecha CG, Torner-Rubies F and Pérez-López LM.

    Lateralized overgrowth as a guiding sign of abdominal neoplasms for pediatric orthopedic surgeons

    Joint Diseases and Related Surgery . 34(1): 3-8. Nº de citas: 1

    [doi:10.52312/jdrs.2023.903]

  • Catasús N, Rosas I, Bonache S, Negro A, Torres-Martin M, Plana-Pla A, Salvador-Hernandez H, Serra E, Blanco I and Castellanos E.

    Antisense oligonucleotides targeting exon 11 are able to partially rescue the NF2-related schwannomatosis phenotype invitro.

    MOLECULAR THERAPY-NUCLEIC ACIDS . 30: 493-505. Nº de citas: 2

    [doi:10.1016/j.omtn.2022.10.026]

  • Hendricks LAJ, Hoogerbrugge N, Venselaar H, Aretz S, Spier I, Legius E, Brems H, de Putter R, Claes KBM, Evans DG, Woodward ER, Genuardi M, Brugnoletti F, van Ierland Y, Dijke K, Tham E, Tesi B, Schuurs-Hoeijmakers JHM, Branchaud M, Salvador-Hernandez H, Jahn A, Schnaiter S, Anastasiadou VC, Brunet J, Oliveira C, Roht L, Blatnik A, Irmejs A, Mensenkamp AR and Vos JR.

    Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort

    EUROPEAN JOURNAL OF MEDICAL GENETICS . 65(12): 104632-104632. Nº de citas: 4

    [doi:10.1016/j.ejmg.2022.104632]

  • Guerrini-Rousseau L, Smith MJ, Kratz CP, Doergeloh B, Hirsch S, Hopman SMJ, Jorgensen M, Kuhlen M, Michaeli O, Milde T, Ridola V, Russo A, Salvador-Hernandez H, Waespe N, Claret B, Brugieres L and Evans DG.

    Current recommendations for cancer surveillance in Gorlin syndrome: a report from the SIOPE host genome working group (SIOPE HGWG).

    FAMILIAL CANCER . 20(4): 317-325. Nº de citas: 19

    [doi:10.1007/s10689-021-00247-z]

  • Magallón-Lorenz M, Fernández-Rodríguez J, Terribas E, Creus-Batchiller E, Romagosa C, Estival A, Perez Sidelnikova D, Salvador-Hernandez H, Villanueva A, Blanco I, Carrió M, Lázaro C, Serra E and Gel B.

    Chromosomal translocations inactivating CDKN2A support a single path for malignant peripheral nerve sheath tumor initiation.

    HUMAN GENETICS . 140(8): 1241-1252. Nº de citas: 9

    [doi:10.1007/s00439-021-02296-x]

  • Alamar AM, Candela-Cantó SA, Flor-Goikoetxea A, Salvador-Hernandez H, Martinez-Monseny T, Muchart-Lopez J and Hinojosa J.

    Megalencephaly-capillary malformation syndrome and associated hydrocephalus: treatment options and revision of the literature

    CHILDS NERVOUS SYSTEM . 37(8): 2441-2449. Nº de citas: 1

    [doi:10.1007/s00381-021-05222-8]

  • Bao R, Ng A, Sasaki M, Esai Selvan M, Katti A, Lee H, Huang L, Skol AD, Lavarino C, Salvador-Hernandez H, Klein RJ, Gümüs ZH, Mora J and Onel K.

    Functional Common and Rare ERBB2 Germline Variants Cooperate in Familial and Sporadic Cancer Susceptibility

    CANCER PREVENTION RESEARCH . 14(4): 441-453. Nº de citas: 2

    [doi:10.1158/1940-6207.CAPR-20-0094]