de la Chapelle A - Search Results

1

Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea.

Höglund P, Haila S, Socha J, Tomaszewski L, Saarialho-Kere U, Karjalainen-Lindsberg ML, Airola K, Holmberg C, de la Chapelle A, Kere J. Höglund P, et al. Among authors: de la chapelle a. Nat Genet. 1996 Nov;14(3):316-9. doi: 10.1038/ng1196-316. Nat Genet. 1996. PMID: 8896562

2

The gene for congenital chloride diarrhea maps close to but is distinct from the gene for cystic fibrosis transmembrane conductance regulator.

Kere J, Sistonen P, Holmberg C, de la Chapelle A. Kere J, et al. Among authors: de la chapelle a. Proc Natl Acad Sci U S A. 1993 Nov 15;90(22):10686-9. doi: 10.1073/pnas.90.22.10686. Proc Natl Acad Sci U S A. 1993. PMID: 7504277 Free PMC article.

3

Fine mapping of the congenital chloride diarrhea gene by linkage disequilibrium.

Höglund P, Sistonen P, Norio R, Holmberg C, Dimberg A, Gustavson KH, de la Chapelle A, Kere J. Höglund P, et al. Among authors: de la chapelle a. Am J Hum Genet. 1995 Jul;57(1):95-102. Am J Hum Genet. 1995. PMID: 7611301 Free PMC article.

4

Paternal isodisomy for chromosome 7 is compatible with normal growth and development in a patient with congenital chloride diarrhea.

Höglund P, Holmberg C, de la Chapelle A, Kere J. Höglund P, et al. Among authors: de la chapelle a. Am J Hum Genet. 1994 Oct;55(4):747-52. Am J Hum Genet. 1994. PMID: 7942853 Free PMC article.

5

Positional candidate genes for congenital chloride diarrhea suggested by high-resolution physical mapping in chromosome region 7q31.

Höglund P, Haila S, Scherer SW, Tsui LC, Green ED, Weissenbach J, Holmberg C, de la Chapelle A, Kere J. Höglund P, et al. Among authors: de la chapelle a. Genome Res. 1996 Mar;6(3):202-10. doi: 10.1101/gr.6.3.202. Genome Res. 1996. PMID: 8963897 Free article.

6

Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene.

Höglund P, Haila S, Gustavson KH, Taipale M, Hannula K, Popinska K, Holmberg C, Socha J, de la Chapelle A, Kere J. Höglund P, et al. Among authors: de la chapelle a. Hum Mutat. 1998;11(4):321-7. doi: 10.1002/(SICI)1098-1004(1998)11:4<321::AID-HUMU10>3.0.CO;2-A. Hum Mutat. 1998. PMID: 9554749

7

Genetic background of congenital chloride diarrhea in high-incidence populations: Finland, Poland, and Saudi Arabia and Kuwait.

Höglund P, Auranen M, Socha J, Popinska K, Nazer H, Rajaram U, Al Sanie A, Al-Ghanim M, Holmberg C, de la Chapelle A, Kere J. Höglund P, et al. Among authors: de la chapelle a. Am J Hum Genet. 1998 Sep;63(3):760-8. doi: 10.1086/301998. Am J Hum Genet. 1998. PMID: 9718329 Free PMC article.

8

Genomic structure of the human congenital chloride diarrhea (CLD) gene.

Haila S, Höglund P, Scherer SW, Lee JR, Kristo P, Coyle B, Trembath R, Holmberg C, de la Chapelle A, Kere J. Haila S, et al. Among authors: de la chapelle a. Gene. 1998 Jul 3;214(1-2):87-93. doi: 10.1016/s0378-1119(98)00261-3. Gene. 1998. PMID: 9729124

9

[Congenital chloride diarrhea gene error in the anion transporter protein].

Höglund P, Holmberg C, Haila S, de la Chapelle A, Kere J. Höglund P, et al. Among authors: de la chapelle a. Duodecim. 1999;115(17):1833-41. Duodecim. 1999. PMID: 11941651 Review. Finnish. No abstract available.

10

Cystic fibrosis in a low-incidence population: two major mutations in Finland.

Kere J, Estivill X, Chillón M, Morral N, Nunes V, Norio R, Savilahti E, de la Chapelle A. Kere J, et al. Among authors: de la chapelle a. Hum Genet. 1994 Feb;93(2):162-6. doi: 10.1007/BF00210603. Hum Genet. 1994. PMID: 7509311

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