Chabás A - Search Results

1

Gene rearrangements in the glucocerebrosidase-metaxin region giving rise to disease-causing mutations and polymorphisms. Analysis of 25 Rec NciI alleles in Gaucher disease patients.

Díaz-Font A, Cormand B, Blanco M, Chamoles N, Chabás A, Grinberg D, Vilageliu L. Díaz-Font A, et al. Among authors: chabas a. Hum Genet. 2003 Apr;112(4):426-9. doi: 10.1007/s00439-002-0894-0. Epub 2003 Feb 14. Hum Genet. 2003. PMID: 12589426

2

Unsuccessful chimeraplast strategy for the correction of a mutation causing Gaucher disease.

Diaz-Font A, Cormand B, Chabás A, Vilageliu L, Grinberg D. Diaz-Font A, et al. Among authors: chabas a. Blood Cells Mol Dis. 2003 Sep-Oct;31(2):183-6. doi: 10.1016/s1079-9796(03)00157-8. Blood Cells Mol Dis. 2003. PMID: 12972023

3

Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and "modifier" polymorphisms.

Montfort M, Chabás A, Vilageliu L, Grinberg D. Montfort M, et al. Among authors: chabas a. Hum Mutat. 2004 Jun;23(6):567-75. doi: 10.1002/humu.20043. Hum Mutat. 2004. PMID: 15146461

4

A mutation within the saposin D domain in a Gaucher disease patient with normal glucocerebrosidase activity.

Diaz-Font A, Cormand B, Santamaria R, Vilageliu L, Grinberg D, Chabás A. Diaz-Font A, et al. Among authors: chabas a. Hum Genet. 2005 Jul;117(2-3):275-7. doi: 10.1007/s00439-005-1288-x. Epub 2005 Apr 23. Hum Genet. 2005. PMID: 15856305

5

Analysis of nonsense-mediated mRNA decay in mutant alleles identified in Spanish Gaucher disease patients.

Montfort M, Chabás A, Vilageliu L, Grinberg D. Montfort M, et al. Among authors: chabas a. Blood Cells Mol Dis. 2006 Jan-Feb;36(1):46-52. doi: 10.1016/j.bcmd.2005.10.002. Epub 2005 Dec 2. Blood Cells Mol Dis. 2006. PMID: 16326120

6

Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies.

Santamaria R, Chabás A, Coll MJ, Miranda CS, Vilageliu L, Grinberg D. Santamaria R, et al. Among authors: chabas a. Hum Mutat. 2006 Oct;27(10):1060. doi: 10.1002/humu.9451. Hum Mutat. 2006. PMID: 16941474

7

Maroteaux-Lamy syndrome: functional characterization of pathogenic mutations and polymorphisms in the arylsulfatase B gene.

Garrido E, Cormand B, Hopwood JJ, Chabás A, Grinberg D, Vilageliu L. Garrido E, et al. Among authors: chabas a. Mol Genet Metab. 2008 Jul;94(3):305-12. doi: 10.1016/j.ymgme.2008.02.012. Epub 2008 Apr 10. Mol Genet Metab. 2008. PMID: 18406185

8

Haplotype analysis suggests a single Balkan origin for the Gaucher disease [D409H;H255Q] double mutant allele.

Santamaria R, Michelakakis H, Moraitou M, Dimitriou E, Dominissini S, Grossi S, Sánchez-Ollé G, Chabás A, Pittis MG, Filocamo M, Vilageliu L, Grinberg D. Santamaria R, et al. Among authors: chabas a. Hum Mutat. 2008 Jun;29(6):E58-67. doi: 10.1002/humu.20776. Hum Mutat. 2008. PMID: 18429048

9

Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients.

Rodríguez-Pascau L, Gort L, Schuchman EH, Vilageliu L, Grinberg D, Chabás A. Rodríguez-Pascau L, et al. Among authors: chabas a. Hum Mutat. 2009 Jul;30(7):1117-22. doi: 10.1002/humu.21018. Hum Mutat. 2009. PMID: 19405096 Free PMC article.

10

Gaucher disease in Spanish patients: analysis of eight mutations.

Cormand B, Vilageliu L, Burguera JM, Balcells S, Gonzàlez-Duarte R, Grinberg D, Chabás A. Cormand B, et al. Among authors: chabas a. Hum Mutat. 1995;5(4):303-9. doi: 10.1002/humu.1380050406. Hum Mutat. 1995. PMID: 7627184

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