Ars E - Search Results

1

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. 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.

2

Prenatal diagnosis of sporadic neurofibromatosis type 1 (NF1) by RNA and DNA analysis of a splicing mutation.

Ars E, Kruyer H, Gaona A, Serra E, Lázaro C, Estivill X. Ars E, et al. Prenat Diagn. 1999 Aug;19(8):739-42. Prenat Diagn. 1999. PMID: 10451518

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. Hum Mol Genet. 2000 Jan 22;9(2):237-47. doi: 10.1093/hmg/9.2.237. Hum Mol Genet. 2000. PMID: 10607834

4

Somatic NF1 mutational spectrum in benign neurofibromas: mRNA splice defects are common among point mutations.

Serra E, Ars E, Ravella A, Sánchez A, Puig S, Rosenbaum T, Estivill X, Lázaro C. Serra E, et al. Among authors: ars e. Hum Genet. 2001 May;108(5):416-29. doi: 10.1007/s004390100514. Hum Genet. 2001. PMID: 11409870

5

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. Among authors: ars e. Am J Hum Genet. 1997 Sep;61(3):512-9. doi: 10.1086/515504. Am J Hum Genet. 1997. PMID: 9326316 Free PMC article.

6

A clinical variant of neurofibromatosis type 1: familial spinal neurofibromatosis with a frameshift mutation in the NF1 gene.

Ars E, Kruyer H, Gaona A, Casquero P, Rosell J, Volpini V, Serra E, Lázaro C, Estivill X. Ars E, et al. Am J Hum Genet. 1998 Apr;62(4):834-41. doi: 10.1086/301803. Am J Hum Genet. 1998. PMID: 9529361 Free PMC article.

7

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. Among authors: ars e. Hum Mol Genet. 2000 Dec 12;9(20):3055-64. doi: 10.1093/hmg/9.20.3055. Hum Mol Genet. 2000. PMID: 11115850

8

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. Among authors: ars e. Nat Genet. 2001 Jul;28(3):294-6. doi: 10.1038/90148. Nat Genet. 2001. PMID: 11431704

9

Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients.

Ars E, Kruyer H, Morell M, Pros E, Serra E, Ravella A, Estivill X, Lázaro C. Ars E, et al. J Med Genet. 2003 Jun;40(6):e82. doi: 10.1136/jmg.40.6.e82. J Med Genet. 2003. PMID: 12807981 Free PMC article. No abstract available.

10

Sex differences in mutational rate and mutational mechanism in the NF1 gene in neurofibromatosis type 1 patients.

Lázaro C, Gaona A, Ainsworth P, Tenconi R, Vidaud D, Kruyer H, Ars E, Volpini V, Estivill X. Lázaro C, et al. Among authors: ars e. Hum Genet. 1996 Dec;98(6):696-9. doi: 10.1007/s004390050287. Hum Genet. 1996. PMID: 8931703

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