de la Chapelle A - Search Results

1

Aberrant splicing of the CHM gene is a significant cause of choroideremia.

Sankila EM, Tolvanen R, van den Hurk JA, Cremers FP, de la Chapelle A. Sankila EM, et al. Among authors: de la chapelle a. Nat Genet. 1992 May;1(2):109-13. doi: 10.1038/ng0592-109. Nat Genet. 1992. PMID: 1302003

2

Haplotype and multipoint linkage analysis in Finnish choroideremia families.

Sankila EM, Lehner T, Eriksson AW, Forsius H, Kärnä J, Page D, Ott J, de la Chapelle A. Sankila EM, et al. Among authors: de la chapelle a. Hum Genet. 1989 Dec;84(1):66-70. doi: 10.1007/BF00210674. Hum Genet. 1989. PMID: 2575071

3

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. Genomics. 1992 Jul;13(3):898-901. doi: 10.1016/0888-7543(92)90182-r. Genomics. 1992. PMID: 1322359

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. Nat Genet. 1992 Oct;2(2):157-60. doi: 10.1038/ng1092-157. Nat Genet. 1992. PMID: 1338910

5

Choroideremia: linkage analysis with physically mapped close DNA-markers.

Sankila EM, Sistonen P, Cremers F, de la Chapelle A. Sankila EM, et al. Among authors: de la chapelle a. Hum Genet. 1991 Jul;87(3):348-52. doi: 10.1007/BF00200918. Hum Genet. 1991. PMID: 1677924

6

A novel CACNA1F gene mutation causes Aland Island eye disease.

Jalkanen R, Bech-Hansen NT, Tobias R, Sankila EM, Mäntyjärvi M, Forsius H, de la Chapelle A, Alitalo T. Jalkanen R, et al. Among authors: de la chapelle a. Invest Ophthalmol Vis Sci. 2007 Jun;48(6):2498-502. doi: 10.1167/iovs.06-1103. Invest Ophthalmol Vis Sci. 2007. PMID: 17525176

7

Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure.

Aittomäki K, Lucena JL, Pakarinen P, Sistonen P, Tapanainen J, Gromoll J, Kaskikari R, Sankila EM, Lehväslaiho H, Engel AR, Nieschlag E, Huhtaniemi I, de la Chapelle A. Aittomäki K, et al. Among authors: de la chapelle a. Cell. 1995 Sep 22;82(6):959-68. doi: 10.1016/0092-8674(95)90275-9. Cell. 1995. PMID: 7553856 Free article.

8

Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q.

Sankila EM, Pakarinen L, Kääriäinen H, Aittomäki K, Karjalainen S, Sistonen P, de la Chapelle A. Sankila EM, et al. Among authors: de la chapelle a. Hum Mol Genet. 1995 Jan;4(1):93-8. doi: 10.1093/hmg/4.1.93. Hum Mol Genet. 1995. PMID: 7711740

9

Molecular studies in Finnish patients with familial juvenile nephronophthisis exclude a founder effect and support a common mutation causing mechanism.

Ala-Mello S, Sankila EM, Koskimies O, de la Chapelle A, Kääriäinen H. Ala-Mello S, et al. Among authors: de la chapelle a. J Med Genet. 1998 Apr;35(4):279-83. doi: 10.1136/jmg.35.4.279. J Med Genet. 1998. PMID: 9598719 Free PMC article.

10

Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3.

Joensuu T, Hämäläinen R, Yuan B, Johnson C, Tegelberg S, Gasparini P, Zelante L, Pirvola U, Pakarinen L, Lehesjoki AE, de la Chapelle A, Sankila EM. Joensuu T, et al. Among authors: de la chapelle a. Am J Hum Genet. 2001 Oct;69(4):673-84. doi: 10.1086/323610. Epub 2001 Aug 27. Am J Hum Genet. 2001. PMID: 11524702 Free PMC article.

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