Estivill X - Search Results

1

CFTR and asthma in the French EGEA study.

de Cid R, Chomel JC, Lazaro C, Sunyer J, Baudis M, Casals T, Le Moual N, Kitzis A, Feingold J, Anto J, Estivill X, Kauffmann F; French EGEA study. de Cid R, et al. Among authors: estivill x. Eur J Hum Genet. 2001 Jan;9(1):67-9. doi: 10.1038/sj.ejhg.5200578. Eur J Hum Genet. 2001. PMID: 11175304 No abstract available.

2

Missense mutations in the cystic fibrosis gene in adult patients with asthma.

Lázaro C, de Cid R, Sunyer J, Soriano J, Giménez J, Alvarez M, Casals T, Antó JM, Estivill X. Lázaro C, et al. Among authors: estivill x. Hum Mutat. 1999;14(6):510-9. doi: 10.1002/(SICI)1098-1004(199912)14:6<510::AID-HUMU10>3.0.CO;2-O. Hum Mutat. 1999. PMID: 10571949

3

A new approach for identifying non-pathogenic mutations. An analysis of the cystic fibrosis transmembrane regulator gene in normal individuals.

Bombieri C, Giorgi S, Carles S, de Cid R, Belpinati F, Tandoi C, Pallares-Ruiz N, Lazaro C, Ciminelli BM, Romey MC, Casals T, Pompei F, Gandini G, Claustres M, Estivill X, Pignatti PF, Modiano G. Bombieri C, et al. Among authors: estivill x. Hum Genet. 2000 Feb;106(2):172-8. doi: 10.1007/s004390051025. Hum Genet. 2000. PMID: 10746558 Free article.

4

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: estivill x. Hum Genet. 1994 Apr;93(4):447-51. doi: 10.1007/BF00201673. Hum Genet. 1994. PMID: 7513293

5

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: estivill x. 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.

6

ATB(0)/SLC1A5 gene. Fine localisation and exclusion of association with the intestinal phenotype of cystic fibrosis.

Larriba S, Sumoy L, Ramos MD, Giménez J, Estivill X, Casals T, Nunes V. Larriba S, et al. Among authors: estivill x. Eur J Hum Genet. 2001 Nov;9(11):860-6. doi: 10.1038/sj.ejhg.5200726. Eur J Hum Genet. 2001. PMID: 11781704

7

Dinucleotide (CA/GT) repeat polymorphism in intron 17B of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Morral N, Girbau E, Zielenski J, Nunes V, Casals T, Tsui LC, Estivill X. Morral N, et al. Among authors: estivill x. Hum Genet. 1992 Jan;88(3):356. doi: 10.1007/BF00197276. Hum Genet. 1992. PMID: 1370810

8

Cystic fibrosis in the Basque country: high frequency of mutation delta F508 in patients of Basque origin.

Casals T, Vázquez C, Lázaro C, Girbau E, Giménez FJ, Estivill X. Casals T, et al. Among authors: estivill x. Am J Hum Genet. 1992 Feb;50(2):404-10. Am J Hum Genet. 1992. PMID: 1370875 Free PMC article.

9

High heterogeneity for cystic fibrosis in Spanish families: 75 mutations account for 90% of chromosomes.

Casals T, Ramos MD, Giménez J, Larriba S, Nunes V, Estivill X. Casals T, et al. Among authors: estivill x. Hum Genet. 1997 Dec;101(3):365-70. doi: 10.1007/s004390050643. Hum Genet. 1997. PMID: 9439669

10

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: estivill x. 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.

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