Kruyer H - Search Results

1

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

2

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: kruyer h. Am J Hum Genet. 1995 Nov;57(5):1044-9. Am J Hum Genet. 1995. PMID: 7485153 Free PMC article.

3

Two further cases of mutation R1947X in the NF1 gene: screening for a relatively common recurrent mutation.

Lázaro C, Kruyer H, Gaona A, Estivill X. Lázaro C, et al. Among authors: kruyer h. Hum Genet. 1995 Sep;96(3):361-3. doi: 10.1007/BF00210425. Hum Genet. 1995. PMID: 7649559

4

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: kruyer h. Hum Genet. 1996 Dec;98(6):696-9. doi: 10.1007/s004390050287. Hum Genet. 1996. PMID: 8931703

5

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

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

7

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: kruyer h. 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.

8

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: kruyer h. Hum Mutat. 2006 Nov;27(11):1104-14. doi: 10.1002/humu.20396. Hum Mutat. 2006. PMID: 16937374

9

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: kruyer h. Prenat Diagn. 1999 Aug;19(8):739-42. Prenat Diagn. 1999. PMID: 10451518

10

Fragile X syndrome and the (CGG)n mutation: two families with discordant MZ twins.

Kruyer H, Milà M, Glover G, Carbonell P, Ballesta F, Estivill X. Kruyer H, et al. Am J Hum Genet. 1994 Mar;54(3):437-42. Am J Hum Genet. 1994. PMID: 8116613 Free PMC article.

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