Díaz-Font 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. 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. 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

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. 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

4

New insights into the origin of the Gaucher disease-causing mutation N370S: extended haplotype analysis using the 5GC3.2, 5470 G/A, and ITG6.2 polymorphisms.

Rodríguez-Marí A, Díaz-Font A, Chabás A, Pastores GM, Grinberg D, Vilageliu L. Rodríguez-Marí A, et al. Blood Cells Mol Dis. 2001 Sep-Oct;27(5):950-9. doi: 10.1006/bcmd.2001.0468. Blood Cells Mol Dis. 2001. PMID: 11783960

5

Perinatal lethal phenotype with generalized ichthyosis in a type 2 Gaucher disease patient with the [L444P;E326K]/P182L genotype: effect of the E326K change in neonatal and classic forms of the disease.

Chabás A, Gort L, Díaz-Font A, Montfort M, Santamaría R, Cidrás M, Grinberg D, Vilageliu L. Chabás A, et al. Among authors: diaz font a. Blood Cells Mol Dis. 2005 Sep-Oct;35(2):253-8. doi: 10.1016/j.bcmd.2005.04.007. Blood Cells Mol Dis. 2005. PMID: 15967693

6

Clinical and mutational characterization of three patients with multiple sulfatase deficiency: report of a new splicing mutation.

Díaz-Font A, Santamaría R, Cozar M, Blanco M, Chamoles N, Coll MJ, Chabás A, Vilageliu L, Grinberg D. Díaz-Font A, et al. Mol Genet Metab. 2005 Sep-Oct;86(1-2):206-11. doi: 10.1016/j.ymgme.2005.07.004. Mol Genet Metab. 2005. PMID: 16125993

7

RNAi-mediated inhibition of the glucosylceramide synthase (GCS) gene: A preliminary study towards a therapeutic strategy for Gaucher disease and other glycosphingolipid storage diseases.

Diaz-Font A, Chabás A, Grinberg D, Vilageliu L. Diaz-Font A, et al. Blood Cells Mol Dis. 2006 Nov-Dec;37(3):197-203. doi: 10.1016/j.bcmd.2006.07.002. Epub 2006 Sep 7. Blood Cells Mol Dis. 2006. PMID: 16959503

8

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.

Khanna H, Davis EE, Murga-Zamalloa CA, Estrada-Cuzcano A, Lopez I, den Hollander AI, Zonneveld MN, Othman MI, Waseem N, Chakarova CF, Maubaret C, Diaz-Font A, MacDonald I, Muzny DM, Wheeler DA, Morgan M, Lewis LR, Logan CV, Tan PL, Beer MA, Inglehearn CF, Lewis RA, Jacobson SG, Bergmann C, Beales PL, Attié-Bitach T, Johnson CA, Otto EA, Bhattacharya SS, Hildebrandt F, Gibbs RA, Koenekoop RK, Swaroop A, Katsanis N. Khanna H, et al. Among authors: diaz font a. Nat Genet. 2009 Jun;41(6):739-45. doi: 10.1038/ng.366. Epub 2009 May 10. Nat Genet. 2009. PMID: 19430481 Free PMC article.

9

Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping.

Harville HM, Held S, Diaz-Font A, Davis EE, Diplas BH, Lewis RA, Borochowitz ZU, Zhou W, Chaki M, MacDonald J, Kayserili H, Beales PL, Katsanis N, Otto E, Hildebrandt F. Harville HM, et al. Among authors: diaz font a. J Med Genet. 2010 Apr;47(4):262-7. doi: 10.1136/jmg.2009.071365. Epub 2009 Sep 24. J Med Genet. 2010. PMID: 19797195 Free PMC article.

10

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.

Leitch CC, Zaghloul NA, Davis EE, Stoetzel C, Diaz-Font A, Rix S, Alfadhel M, Lewis RA, Eyaid W, Banin E, Dollfus H, Beales PL, Badano JL, Katsanis N. Leitch CC, et al. Among authors: diaz font a. Nat Genet. 2008 Apr;40(4):443-8. doi: 10.1038/ng.97. Epub 2008 Mar 9. Nat Genet. 2008. PMID: 18327255

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