Giménez J - Search Results

1

Analysis of the CFTR gene in the Spanish population: SSCP-screening for 60 known mutations and identification of four new mutations (Q30X, A120T, 1812-1 G-->A, and 3667del4).

Chillón M, Casals T, Giménez J, Nunes V, Estivill X. Chillón M, et al. Among authors: gimenez j. Hum Mutat. 1994;3(3):223-30. doi: 10.1002/humu.1380030308. Hum Mutat. 1994. PMID: 7517264

2

CFTR rearrangements in Spanish cystic fibrosis patients: first new duplication (35kb) characterised in the Mediterranean countries.

Ramos MD, Masvidal L, Giménez J, Bieth E, Seia M, des Georges M, Armengol L, Casals T. Ramos MD, et al. Among authors: gimenez j. Ann Hum Genet. 2010 Sep 1;74(5):463-9. doi: 10.1111/j.1469-1809.2010.00591.x. Epub 2010 Jun 17. Ann Hum Genet. 2010. PMID: 20560922

3

Identification of a frameshift mutation (1609delCA) in exon 10 of the CFTR gene in seven Spanish cystic fibrosis patients.

Chillón M, Palacio A, Nunes V, Casals T, Giménez J, Estivill X. Chillón M, et al. Among authors: gimenez j. Hum Mutat. 1992;1(1):75-6. doi: 10.1002/humu.1380010113. Hum Mutat. 1992. PMID: 1284477 No abstract available.

4

Identification of a new missense mutation (P205S) in the first transmembrane domain of the CFTR gene associated with a mild cystic fibrosis phenotype.

Chillón M, Casals T, Nunes V, Giménez J, Pérez Ruiz E, Estivill X. Chillón M, et al. Among authors: gimenez j. Hum Mol Genet. 1993 Oct;2(10):1741-2. doi: 10.1093/hmg/2.10.1741. Hum Mol Genet. 1993. PMID: 7505694 No abstract available.

5

Analysis of the CFTR gene confirms the high genetic heterogeneity of the Spanish population: 43 mutations account for only 78% of CF chromosomes.

Chillón M, Casals T, Giménez J, Ramos MD, Palacio A, Morral N, Estivill X, Nunes V. Chillón M, et al. Among authors: gimenez j. Hum Genet. 1994 Apr;93(4):447-51. doi: 10.1007/BF00201673. Hum Genet. 1994. PMID: 7513293

6

Extensive analysis of 40 infertile patients with congenital absence of the vas deferens: in 50% of cases only one CFTR allele could be detected.

Casals T, Bassas L, Ruiz-Romero J, Chillón M, Giménez J, Ramos MD, Tapia G, Narváez H, Nunes V, Estivill X. Casals T, et al. Among authors: gimenez j. Hum Genet. 1995 Feb;95(2):205-11. doi: 10.1007/BF00209403. Hum Genet. 1995. PMID: 7532150

7

A novel donor splice site in intron 11 of the CFTR gene, created by mutation 1811+1.6kbA-->G, produces a new exon: high frequency in Spanish cystic fibrosis chromosomes and association with severe phenotype.

Chillón M, Dörk T, Casals T, Giménez J, Fonknechten N, Will K, Ramos D, Nunes V, Estivill X. Chillón M, et al. Among authors: gimenez j. Am J Hum Genet. 1995 Mar;56(3):623-9. Am J Hum Genet. 1995. PMID: 7534040 Free PMC article.

8

Microsatellite haplotypes for cystic fibrosis: mutation frameworks and evolutionary tracers.

Morral N, Nunes V, Casals T, Chillón M, Giménez J, Bertranpetit J, Estivill X. Morral N, et al. Among authors: gimenez j. Hum Mol Genet. 1993 Jul;2(7):1015-22. doi: 10.1093/hmg/2.7.1015. Hum Mol Genet. 1993. PMID: 7689896

9

Identification of a 31-bp insertion (3860ins31) in exon 20 of the cystic fibrosis (CFTR) gene.

Chillón M, Casals T, Nunes V, Giménez J, Estivill X. Chillón M, et al. Among authors: gimenez j. Hum Mol Genet. 1993 Aug;2(8):1317-8. doi: 10.1093/hmg/2.8.1317. Hum Mol Genet. 1993. PMID: 7691350 No abstract available.

10

Clinical characteristics of 16 cystic fibrosis patients with the missense mutation R334W, a pancreatic insufficiency mutation with variable age of onset and interfamilial clinical differences.

Estivill X, Ortigosa L, Pérez-Frias J, Dapena J, Ferrer J, Peña L, Peña L, Llevadot R, Giménez J, Nunes V, et al. Estivill X, et al. Among authors: gimenez j. Hum Genet. 1995 Mar;95(3):331-6. doi: 10.1007/BF00225203. Hum Genet. 1995. PMID: 7868128

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