Sankila EM - Search Results

1

Mutation spectrum in the CHM gene of Danish and Swedish choroideremia patients.

van Bokhoven H, Schwartz M, Andréasson S, van den Hurk JA, Bogerd L, Jay M, Rüther K, Jay B, Pawlowitzki IH, Sankila EM, et al. van Bokhoven H, et al. Among authors: sankila em. Hum Mol Genet. 1994 Jul;3(7):1047-51. doi: 10.1093/hmg/3.7.1047. Hum Mol Genet. 1994. PMID: 7981671

2

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. Nat Genet. 1992 May;1(2):109-13. doi: 10.1038/ng0592-109. Nat Genet. 1992. PMID: 1302003

3

Deletions in patients with classical choroideremia vary in size from 45 kb to several megabases.

Cremers FP, Sankila EM, Brunsmann F, Jay M, Jay B, Wright A, Pinckers AJ, Schwartz M, van de Pol DJ, Wieringa B, et al. Cremers FP, et al. Among authors: sankila em. Am J Hum Genet. 1990 Oct;47(4):622-8. Am J Hum Genet. 1990. PMID: 2220804 Free PMC article.

4

DXS26 (HU16) is located in Xq21.1.

Sankila EM, Bruns GA, Schwartz M, Nikoskelainen E, Niebuhr E, Hodgson SV, Wright AF, de la Chapelle A. Sankila EM, et al. Hum Genet. 1990 Jun;85(1):117-20. doi: 10.1007/BF00276335. Hum Genet. 1990. PMID: 2162804

5

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

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

6

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. Hum Genet. 1989 Dec;84(1):66-70. doi: 10.1007/BF00210674. Hum Genet. 1989. PMID: 2575071

7

Chromosomal jumping from the DXS165 locus allows molecular characterization of four microdeletions and a de novo chromosome X/13 translocation associated with choroideremia.

Cremers FP, van de Pol DJ, Wieringa B, Collins FS, Sankila EM, Siu VM, Flintoff WF, Brunsmann F, Blonden LA, Ropers HH. Cremers FP, et al. Among authors: sankila em. Proc Natl Acad Sci U S A. 1989 Oct;86(19):7510-4. doi: 10.1073/pnas.86.19.7510. Proc Natl Acad Sci U S A. 1989. PMID: 2798422 Free PMC article.

8

Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3.

Bitner-Glindzicz M, Turnpenny P, Höglund P, Kääriäinen H, Sankila EM, van der Maarel SM, de Kok YJ, Ropers HH, Cremers FP, Pembrey M, et al. Bitner-Glindzicz M, et al. Among authors: sankila em. Hum Mol Genet. 1995 Aug;4(8):1467-9. doi: 10.1093/hmg/4.8.1467. Hum Mol Genet. 1995. PMID: 7581392 Free article. No abstract available.

9

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. Hum Mol Genet. 1995 Jan;4(1):93-8. doi: 10.1093/hmg/4.1.93. Hum Mol Genet. 1995. PMID: 7711740

10

Attitudes towards prenatal diagnosis and selective abortion among patients with retinitis pigmentosa or choroideremia as well as among their relatives.

Furu T, Kääriäinen H, Sankila EM, Norio R. Furu T, et al. Among authors: sankila em. Clin Genet. 1993 Mar;43(3):160-5. doi: 10.1111/j.1399-0004.1993.tb04463.x. Clin Genet. 1993. PMID: 8500262

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