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Neurofibromatosis type 1 families with first-degree relatives harbouring distinct NF1 pathogenic variants. Genetic counselling and familial diagnosis: what should be offered?
Garcia B, Catasus N, Ros A, Rosas I, Negro A, Guerrero-Murillo M, Valero AM, Duat-Rodriguez A, Becerra JL, Bonache S, Lázaro Garcia C, Comas C, Bielsa I, Serra E, Hernández-Chico C, Martin Y, Castellanos E, Blanco I. Garcia B, et al. Among authors: catasus n. J Med Genet. 2022 Oct;59(10):1017-1023. doi: 10.1136/jmedgenet-2021-108301. Epub 2022 Feb 4. J Med Genet. 2022. PMID: 35121649
Revisiting the UK Genetic Severity Score for NF2: a proposal for the addition of a functional genetic component.
Catasús N, Garcia B, Galván-Femenía I, Plana A, Negro A, Rosas I, Ros A, Amilibia E, Becerra JL, Hostalot C, Rocaribas F, Bielsa I, Lazaro Garcia C, de Cid R, Serra E, Blanco I, Castellanos E; NF2 Spanish National Reference Centre HUGTP-ICO-IGTP. Catasús N, et al. J Med Genet. 2022 Jul;59(7):678-686. doi: 10.1136/jmedgenet-2020-107548. Epub 2021 Aug 4. J Med Genet. 2022. PMID: 34348961
Skin lesions in neurofibromatosis type 2: diagnostic and prognostic significance of cutaneous (plexiform) schwannomas.
Plana-Pla A, García B, Munera-Campos M, Catasus N, Serra Arenas E, Blanco I, Castellanos Perez E, Bielsa I; NF2 Multidisciplinary Clinics HUGTiP-ICO-IGTP. Plana-Pla A, et al. Among authors: catasus n. J Eur Acad Dermatol Venereol. 2022 Sep;36(9):1632-1640. doi: 10.1111/jdv.18190. Epub 2022 May 21. J Eur Acad Dermatol Venereol. 2022. PMID: 35490384 Free PMC article.
Antisense oligonucleotides targeting exon 11 are able to partially rescue the NF2-related schwannomatosis phenotype in vitro.
Catasús N, Rosas I, Bonache S, Negro A, Torres-Martin M, Plana-Pla A, Salvador H, Serra E, Blanco I, Castellanos E; NF2-related SWN Spanish National Reference Centre HUGTP-ICO-IGTP. Catasús N, et al. Mol Ther Nucleic Acids. 2022 Nov 4;30:493-505. doi: 10.1016/j.omtn.2022.10.026. eCollection 2022 Dec 13. Mol Ther Nucleic Acids. 2022. PMID: 36420221 Free PMC article.