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Norrie disease caused by a gene deletion allowing carrier detection and prenatal diagnosis.
de la Chapelle A, Sankila EM, Lindlöf M, Aula P, Norio R. de la Chapelle A, et al. Among authors: sankila em. Clin Genet. 1985 Oct;28(4):317-20. doi: 10.1111/j.1399-0004.1985.tb00405.x. Clin Genet. 1985. PMID: 2998655
X linked neonatal myotubular myopathy: one recombination detected with four polymorphic DNA markers from Xq28.
Lehesjoki AE, Sankila EM, Miao J, Somer M, Salonen R, Rapola J, de la Chapelle A. Lehesjoki AE, et al. Among authors: sankila em. J Med Genet. 1990 May;27(5):288-91. doi: 10.1136/jmg.27.5.288. J Med Genet. 1990. PMID: 1972196 Free PMC article.
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
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.
Choroideremia: close linkage to DXYS1 and DXYS12 demonstrated by segregation analysis and historical-genealogical evidence.
Sankila EM, de la Chapelle A, Kärnä J, Forsius H, Frants R, Eriksson A. Sankila EM, et al. Clin Genet. 1987 May;31(5):315-22. doi: 10.1111/j.1399-0004.1987.tb02815.x. Clin Genet. 1987. PMID: 2886237
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
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
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
Segregation and fertility analysis in an autosomal reciprocal translocation, t(1;8)(q41;q23.1).
Vauhkonen AE, Sankila EM, Simola KO, de la Chapelle A. Vauhkonen AE, et al. Among authors: sankila em. Am J Hum Genet. 1985 May;37(3):533-42. Am J Hum Genet. 1985. PMID: 4003397 Free PMC article.
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: sankila em. Cell. 1995 Sep 22;82(6):959-68. doi: 10.1016/0092-8674(95)90275-9. Cell. 1995. PMID: 7553856
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