Serra E - Search Results

1

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

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

Recurrence of the PKD1 nonsense mutation Q4041X in Spanish, Italian, and British families.

Torra R, Badenas C, Peral B, Darnell A, Serra E, Gamble V, Turco AE, Harris PC, Estivill X. Torra R, et al. Among authors: serra e. Hum Mutat. 1998;Suppl 1:S117-20. doi: 10.1002/humu.1380110139. Hum Mutat. 1998. PMID: 9452060 No abstract available.

4

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. Among authors: serra e. Am J Hum Genet. 1998 Apr;62(4):834-41. doi: 10.1086/301803. Am J Hum Genet. 1998. PMID: 9529361 Free PMC article.

5

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. Among authors: serra e. Prenat Diagn. 1999 Aug;19(8):739-42. Prenat Diagn. 1999. PMID: 10451518

6

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

7

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.

8

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

9

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. Hum Genet. 2001 May;108(5):416-29. doi: 10.1007/s004390100514. Hum Genet. 2001. PMID: 11409870

10

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. Among authors: serra e. 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.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

434 results

Search Page

Filters