Kere J - 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: kere j. Nat Genet. 1996 Nov;14(3):316-9. doi: 10.1038/ng1196-316. Nat Genet. 1996. PMID: 8896562

2

Familial amyloidosis, Finnish type: G654----a mutation of the gelsolin gene in Finnish families and an unrelated American family.

de la Chapelle A, Kere J, Sack GH Jr, Tolvanen R, Maury CP. de la Chapelle A, et al. Among authors: kere j. Genomics. 1992 Jul;13(3):898-901. doi: 10.1016/0888-7543(92)90182-r. Genomics. 1992. PMID: 1322359

3

Homozygosity for the Asn187 gelsolin mutation in Finnish-type familial amyloidosis is associated with severe renal disease.

Maury CP, Kere J, Tolvanen R, de la Chapelle A. Maury CP, et al. Among authors: kere j. Genomics. 1992 Jul;13(3):902-3. doi: 10.1016/0888-7543(92)90183-s. Genomics. 1992. PMID: 1322360 No abstract available.

4

Gelsolin-derived familial amyloidosis caused by asparagine or tyrosine substitution for aspartic acid at residue 187.

de la Chapelle A, Tolvanen R, Boysen G, Santavy J, Bleeker-Wagemakers L, Maury CP, Kere J. de la Chapelle A, et al. Among authors: kere j. Nat Genet. 1992 Oct;2(2):157-60. doi: 10.1038/ng1092-157. Nat Genet. 1992. PMID: 1338910

5

[The gene defect for Finnish hereditary amyloidosis has been found].

Maury CP, Kere J, Baumann M, de la Chapelle A. Maury CP, et al. Among authors: kere j. Duodecim. 1991;107(16):1344-5. Duodecim. 1991. PMID: 1365358 Review. Finnish. No abstract available.

6

Refinement of human chromosome 7 map around the pro alpha 2(I)collagen gene by long-range restriction mapping.

Kere J, Tolvanen R, Donis-Keller H, de la Chapelle A. Kere J, et al. Nucleic Acids Res. 1991 May 25;19(10):2755-9. doi: 10.1093/nar/19.10.2755. Nucleic Acids Res. 1991. PMID: 2041749 Free PMC article.

7

Finnish hereditary amyloidosis is caused by a single nucleotide substitution in the gelsolin gene.

Maury CP, Kere J, Tolvanen R, de la Chapelle A. Maury CP, et al. Among authors: kere j. FEBS Lett. 1990 Dec 10;276(1-2):75-7. doi: 10.1016/0014-5793(90)80510-p. FEBS Lett. 1990. PMID: 2176164 Free article.

8

Cystic fibrosis mutation delta F508 in Finland: other mutations predominate.

Kere J, Savilahti E, Norio R, Estivill X, de la Chapelle A. Kere J, et al. Hum Genet. 1990 Sep;85(4):413-5. doi: 10.1007/BF02428286. Hum Genet. 1990. PMID: 2210753

9

Chromosome 7 long arm deletion in myeloid disorders: a narrow breakpoint region in 7q22 defined by molecular mapping.

Kere J, Ruutu T, Davies KA, Roninson IB, Watkins PC, Winqvist R, de la Chapelle A. Kere J, et al. Blood. 1989 Jan;73(1):230-4. Blood. 1989. PMID: 2562922 Free article.

10

Cystic fibrosis in Finland: a molecular and genealogical study.

Kere J, Norio R, Savilahti E, Estivill X, de la Chapelle A. Kere J, et al. Hum Genet. 1989 Aug;83(1):20-5. doi: 10.1007/BF00274141. Hum Genet. 1989. PMID: 2570015

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