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Targeted massively parallel sequencing of candidate regions on chromosome 22q predisposing to multiple schwannomas: An analysis of 51 individuals in a single-center experience.
Piotrowski A, Koczkowska M, Poplawski AB, Bartoszewski R, Króliczewski J, Mieczkowska A, Gomes A, Crowley MR, Crossman DK, Chen Y, Lao P, Serra E, Llach MC, Castellanos E, Messiaen LM. Piotrowski A, et al. Among authors: serra e. Hum Mutat. 2022 Jan;43(1):74-84. doi: 10.1002/humu.24294. Epub 2021 Nov 15. Hum Mutat. 2022. PMID: 34747535
In vitro antisense therapeutics for a deep intronic mutation causing Neurofibromatosis type 2.
Castellanos E, Rosas I, Solanes A, Bielsa I, Lázaro C, Carrato C, Hostalot C, Prades P, Roca-Ribas F, Blanco I, Serra E; NF2 Multidisciplinary Clinics HUGTiP-ICO-IMPPC. Castellanos E, et al. Among authors: serra e. Eur J Hum Genet. 2013 Jul;21(7):769-73. doi: 10.1038/ejhg.2012.261. Epub 2012 Nov 28. Eur J Hum Genet. 2013. PMID: 23188051 Free PMC article.
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. Among authors: serra e. 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: serra 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. Among authors: serra e. 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: serra e. 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: serra 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: serra 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. Among authors: serra e. Clin Genet. 2020 Feb;97(2):264-275. doi: 10.1111/cge.13649. Epub 2019 Dec 12. Clin Genet. 2020. PMID: 31573083
427 results