Ravella A - Search Results

1

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

2

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

3

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. Among authors: ravella a. Hum Genet. 1991 Dec;88(2):185-8. doi: 10.1007/BF00206069. Hum Genet. 1991. PMID: 1757093

4

Neurofibromatosis type 1 due to germ-line mosaicism in a clinically normal father.

Lázaro C, Ravella A, Gaona A, Volpini V, Estivill X. Lázaro C, et al. Among authors: ravella a. N Engl J Med. 1994 Nov 24;331(21):1403-7. doi: 10.1056/NEJM199411243312102. N Engl J Med. 1994. PMID: 7969279 Free article.

5

Novel alleles, hemizygosity and deletions at an Alu-repeat within the neurofibromatosis type 1 (NF1) gene.

Lázaro C, Gaona A, Ravella A, Volpini V, Casals T, Fuentes JJ, Estivill X. Lázaro C, et al. Among authors: ravella a. Hum Mol Genet. 1993 Jun;2(6):725-30. doi: 10.1093/hmg/2.6.725. Hum Mol Genet. 1993. PMID: 8353492

6

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

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: ravella a. 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

Prenatal diagnosis of neurofibromatosis type 1: from flanking RFLPs to intragenic microsatellite markers.

Lazaro C, Gaona A, Ravella A, Volpini V, Estivill X. Lazaro C, et al. Among authors: ravella a. Prenat Diagn. 1995 Feb;15(2):129-34. doi: 10.1002/pd.1970150204. Prenat Diagn. 1995. PMID: 7784363

9

Modulation of aberrant NF1 pre-mRNA splicing by kinetin treatment.

Pros E, Fernández-Rodríguez J, Benito L, Ravella A, Capellá G, Blanco I, Serra E, Lázaro C. Pros E, et al. Among authors: ravella a. Eur J Hum Genet. 2010 May;18(5):614-7. doi: 10.1038/ejhg.2009.212. Epub 2009 Nov 25. Eur J Hum Genet. 2010. PMID: 19935827 Free PMC article.

10

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. Among authors: ravella a. Genes Chromosomes Cancer. 2007 Sep;46(9):820-7. doi: 10.1002/gcc.20468. Genes Chromosomes Cancer. 2007. PMID: 17563086

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