Serra E - Search Results

1

Generation of human iPSC-derived neurofibromaspheres for in vitro and in vivo uses.

Mazuelas H, Uriarte-Arrazola I, Fernández-Rodríguez J, Magallón-Lorenz M, Villanueva A, Lázaro C, Gel B, Serra E, Carrió M. Mazuelas H, et al. Among authors: serra e. STAR Protoc. 2023 Mar 27;4(2):102198. doi: 10.1016/j.xpro.2023.102198. Online ahead of print. STAR Protoc. 2023. PMID: 36976677 Free PMC article.

2

Confirmation of a double-hit model for the NF1 gene in benign neurofibromas.

Serra E, Puig S, Otero D, Gaona A, Kruyer H, Ars E, Estivill X, Lázaro C. Serra E, et al. Am J Hum Genet. 1997 Sep;61(3):512-9. doi: 10.1086/515504. Am J Hum Genet. 1997. PMID: 9326316 Free PMC article.

3

Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.

Ars E, Serra E, García J, Kruyer H, Gaona A, Lázaro C, Estivill X. Ars E, et al. Among authors: serra e. Hum Mol Genet. 2000 Jan 22;9(2):237-47. doi: 10.1093/hmg/9.2.237. Hum Mol Genet. 2000. PMID: 10607834

4

Cold shock induces the insertion of a cryptic exon in the neurofibromatosis type 1 (NF1) mRNA.

Ars E, Serra E, de la Luna S, Estivill X, Lázaro C. Ars E, et al. Among authors: serra e. Nucleic Acids Res. 2000 Mar 15;28(6):1307-12. doi: 10.1093/nar/28.6.1307. Nucleic Acids Res. 2000. PMID: 10684924 Free PMC article.

5

Schwann cells harbor the somatic NF1 mutation in neurofibromas: evidence of two different Schwann cell subpopulations.

Serra E, Rosenbaum T, Winner U, Aledo R, Ars E, Estivill X, Lenard HG, Lázaro C. Serra E, et al. Hum Mol Genet. 2000 Dec 12;9(20):3055-64. doi: 10.1093/hmg/9.20.3055. Hum Mol Genet. 2000. PMID: 11115850

6

Mitotic recombination effects homozygosity for NF1 germline mutations in neurofibromas.

Serra E, Rosenbaum T, Nadal M, Winner U, Ars E, Estivill X, Lázaro C. Serra E, et al. Nat Genet. 2001 Jul;28(3):294-6. doi: 10.1038/90148. Nat Genet. 2001. PMID: 11431704

7

NF1 mutation rather than individual genetic variability is the main determinant of the NF1-transcriptional profile of mutations affecting splicing.

Pros E, Larriba S, López E, Ravella A, Gili ML, Kruyer H, Valls J, Serra E, Lázaro C. Pros E, et al. Among authors: serra e. Hum Mutat. 2006 Nov;27(11):1104-14. doi: 10.1002/humu.20396. Hum Mutat. 2006. PMID: 16937374

8

Tumor LOH analysis provides reliable linkage information for prenatal genetic testing of sporadic NF1 patients.

Serra E, Pros E, García C, López E, Gili ML, Gómez C, Ravella A, Capellá G, Blanco I, Lázaro C. Serra E, et al. Genes Chromosomes Cancer. 2007 Sep;46(9):820-7. doi: 10.1002/gcc.20468. Genes Chromosomes Cancer. 2007. PMID: 17563086

9

Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations.

Pros E, Gómez C, Martín T, Fábregas P, Serra E, Lázaro C. Pros E, et al. Among authors: serra e. Hum Mutat. 2008 Sep;29(9):E173-93. doi: 10.1002/humu.20826. Hum Mutat. 2008. PMID: 18546366

10

Antisense therapeutics for neurofibromatosis type 1 caused by deep intronic mutations.

Pros E, Fernández-Rodríguez J, Canet B, Benito L, Sánchez A, Benavides A, Ramos FJ, López-Ariztegui MA, Capellá G, Blanco I, Serra E, Lázaro C. Pros E, et al. Among authors: serra e. Hum Mutat. 2009 Mar;30(3):454-62. doi: 10.1002/humu.20933. Hum Mutat. 2009. PMID: 19241459

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