Estivill X - Search Results

1

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: estivill x. Hum Mol Genet. 2000 Dec 12;9(20):3055-64. doi: 10.1093/hmg/9.20.3055. Hum Mol Genet. 2000. PMID: 11115850

2

Recurrence of a nonsense mutation in the NF1 gene causing classical neurofibromatosis type 1.

Estivill X, Lázaro C, Casals T, Ravella A. Estivill X, et al. Hum Genet. 1991 Dec;88(2):185-8. doi: 10.1007/BF00206069. Hum Genet. 1991. PMID: 1757093

3

Two CA/GT repeat polymorphisms in intron 27 of the human neurofibromatosis (NF1) gene.

Lázaro C, Gaona A, Estivill X. Lázaro C, et al. Among authors: estivill x. Hum Genet. 1994 Mar;93(3):351-2. doi: 10.1007/BF00212039. Hum Genet. 1994. PMID: 8125490

4

A highly informative CA/GT repeat polymorphism in intron 38 of the human neurofibromatosis type 1 (NF1) gene.

Lázaro C, Gaona A, Xu G, Weiss R, Estivill X. Lázaro C, et al. Among authors: estivill x. Hum Genet. 1993 Oct;92(4):429-30. doi: 10.1007/BF01247353. Hum Genet. 1993. PMID: 8225327

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: estivill x. 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. Among authors: estivill x. 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

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

8

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

9

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: estivill x. Nat Genet. 2001 Jul;28(3):294-6. doi: 10.1038/90148. Nat Genet. 2001. PMID: 11431704

10

Molecular characterization of the breakpoints of a 12-kb deletion in the NF1 gene in a family showing germ-line mosaicism.

Lázaro C, Gaona A, Lynch M, Kruyer H, Ravella A, Estivill X. Lázaro C, et al. Among authors: estivill x. Am J Hum Genet. 1995 Nov;57(5):1044-9. Am J Hum Genet. 1995. PMID: 7485153 Free PMC article.

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