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Page 1
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: rosas i. 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
A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape.
Castellanos E, Gel B, Rosas I, Tornero E, Santín S, Pluvinet R, Velasco J, Sumoy L, Del Valle J, Perucho M, Blanco I, Navarro M, Brunet J, Pineda M, Feliubadaló L, Capellá G, Lázaro C, Serra E. Castellanos E, et al. Among authors: rosas i. Sci Rep. 2017 Jan 4;7:39348. doi: 10.1038/srep39348. Sci Rep. 2017. PMID: 28051113 Free PMC article.
Early Genetic Diagnosis of Neurofibromatosis Type 2 From Skin Plaque Plexiform Schwannomas in Childhood.
Castellanos E, Plana A, Carrato C, Carrió M, Rosas I, Amilibia E, Roca-Ribas F, Hostalot C, Castillo A, Ros A, Quer A, Becerra JL, Salvador H, Lázaro C, Blanco I, Serra E, Bielsa I; for CSUR Phakomatoses Multidisciplinary Clinics HUGTiP-ICO-IGTP. Castellanos E, et al. Among authors: rosas i. JAMA Dermatol. 2018 Mar 1;154(3):341-346. doi: 10.1001/jamadermatol.2017.5464. JAMA Dermatol. 2018. PMID: 29322178 Free PMC article.
Analysis of intratumor heterogeneity in Neurofibromatosis type 1 plexiform neurofibromas and neurofibromas with atypical features: Correlating histological and genomic findings.
Carrió M, Gel B, Terribas E, Zucchiatti AC, Moliné T, Rosas I, Teulé Á, Ramón Y Cajal S, López-Gutiérrez JC, Blanco I, Castellanos E, Lázaro C, Stemmer-Rachamimov A, Romagosa C, Serra E. Carrió M, et al. Among authors: rosas i. Hum Mutat. 2018 Aug;39(8):1112-1125. doi: 10.1002/humu.23552. Epub 2018 May 25. Hum Mutat. 2018. PMID: 29774626
Mutational spectrum by phenotype: panel-based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café-au-lait macules.
Castellanos E, Rosas I, Negro A, Gel B, Alibés A, Baena N, Pineda M, Pi G, Pintos G, Salvador H, Lázaro C, Blanco I, Vilageliu L, Brems H, Grinberg D, Legius E, Serra E. Castellanos E, et al. Among authors: rosas i. Clin Genet. 2020 Feb;97(2):264-275. doi: 10.1111/cge.13649. Epub 2019 Dec 12. Clin Genet. 2020. PMID: 31573083
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. Among authors: rosas i. 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
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. Among authors: rosas i. 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.
Deep genomic analysis of malignant peripheral nerve sheath tumor cell lines challenges current malignant peripheral nerve sheath tumor diagnosis.
Magallón-Lorenz M, Terribas E, Ortega-Bertran S, Creus-Bachiller E, Fernández M, Requena G, Rosas I, Mazuelas H, Uriarte-Arrazola I, Negro A, Lausová T, Castellanos E, Blanco I, DeVries G, Kawashima H, Legius E, Brems H, Mautner V, Kluwe L, Ratner N, Wallace M, Fernández-Rodriguez J, Lázaro C, Fletcher JA, Reuss D, Carrió M, Gel B, Serra E. Magallón-Lorenz M, et al. Among authors: rosas i. iScience. 2023 Jan 31;26(2):106096. doi: 10.1016/j.isci.2023.106096. eCollection 2023 Feb 17. iScience. 2023. PMID: 36818284 Free PMC article.
319 results