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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: castellanos e. 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
Segmental neurofibromatosis type 2: discriminating two hit from four hit in a patient presenting multiple schwannomas confined to one limb.
Castellanos E, Bielsa I, Carrato C, Rosas I, Solanes A, Hostalot C, Amilibia E, Prades J, Roca-Ribas F, Lázaro C, Blanco I, Serra E; NF2 Multidisciplinary Clinics HUGTiP-ICO-IMPPC. Castellanos E, et al. BMC Med Genomics. 2015 Jan 24;8:2. doi: 10.1186/s12920-015-0076-2. BMC Med Genomics. 2015. PMID: 25739810 Free PMC article.
Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.
Feliubadaló L, Tonda R, Gausachs M, Trotta JR, Castellanos E, López-Doriga A, Teulé À, Tornero E, Del Valle J, Gel B, Gut M, Pineda M, González S, Menéndez M, Navarro M, Capellá G, Gut I, Serra E, Brunet J, Beltran S, Lázaro C. Feliubadaló L, et al. Among authors: castellanos e. Sci Rep. 2017 Jan 4;7:37984. doi: 10.1038/srep37984. Sci Rep. 2017. PMID: 28050010 Free PMC article.
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. 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. 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: castellanos e. Hum Mutat. 2018 Aug;39(8):1112-1125. doi: 10.1002/humu.23552. Epub 2018 May 25. Hum Mutat. 2018. PMID: 29774626
Reprogramming Captures the Genetic and Tumorigenic Properties of Neurofibromatosis Type 1 Plexiform Neurofibromas.
Carrió M, Mazuelas H, Richaud-Patin Y, Gel B, Terribas E, Rosas I, Jimenez-Delgado S, Biayna J, Vendredy L, Blanco I, Castellanos E, Lázaro C, Raya Á, Serra E. Carrió M, et al. Among authors: castellanos e. Stem Cell Reports. 2019 Feb 12;12(2):411-426. doi: 10.1016/j.stemcr.2019.01.001. Epub 2019 Jan 31. Stem Cell Reports. 2019. PMID: 30713041 Free PMC article.
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. Clin Genet. 2020 Feb;97(2):264-275. doi: 10.1111/cge.13649. Epub 2019 Dec 12. Clin Genet. 2020. PMID: 31573083
Evaluation of CNV detection tools for NGS panel data in genetic diagnostics.
Moreno-Cabrera JM, Del Valle J, Castellanos E, Feliubadaló L, Pineda M, Brunet J, Serra E, Capellà G, Lázaro C, Gel B. Moreno-Cabrera JM, et al. Among authors: castellanos e. Eur J Hum Genet. 2020 Dec;28(12):1645-1655. doi: 10.1038/s41431-020-0675-z. Epub 2020 Jun 19. Eur J Hum Genet. 2020. PMID: 32561899 Free PMC article.
254 results