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Somatic deletions in hereditary breast cancers implicate 13q21 as a putative novel breast cancer susceptibility locus.
Kainu T, Juo SH, Desper R, Schaffer AA, Gillanders E, Rozenblum E, Freas-Lutz D, Weaver D, Stephan D, Bailey-Wilson J, Kallioniemi OP, Tirkkonen M, Syrjäkoski K, Kuukasjärvi T, Koivisto P, Karhu R, Holli K, Arason A, Johannesdottir G, Bergthorsson JT, Johannsdottir H, Egilsson V, Barkardottir RB, Johannsson O, Haraldsson K, Sandberg T, Holmberg E, Grönberg H, Olsson H, Borg A, Vehmanen P, Eerola H, Heikkila P, Pyrhönen S, Nevanlinna H. Kainu T, et al. Among authors: heikkila p. Proc Natl Acad Sci U S A. 2000 Aug 15;97(17):9603-8. doi: 10.1073/pnas.97.17.9603. Proc Natl Acad Sci U S A. 2000. PMID: 10944226 Free PMC article.
SLC18A3 variants lead to fetal akinesia deformation sequence early in pregnancy.
Hakonen AH, Polvi A, Saloranta C, Paetau A, Heikkilä P, Almusa H, Ellonen P, Jakkula E, Saarela J, Aittomäki K. Hakonen AH, et al. Among authors: heikkila p. Am J Med Genet A. 2019 Jul;179(7):1362-1365. doi: 10.1002/ajmg.a.61186. Epub 2019 May 6. Am J Med Genet A. 2019. PMID: 31059209
379 results