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WDR11-mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome.
Kim YJ, Osborn DP, Lee JY, Araki M, Araki K, Mohun T, Känsäkoski J, Brandstack N, Kim HT, Miralles F, Kim CH, Brown NA, Kim HG, Martinez-Barbera JP, Ataliotis P, Raivio T, Layman LC, Kim SH. Kim YJ, et al. Among authors: kansakoski j. EMBO Rep. 2018 Feb;19(2):269-289. doi: 10.15252/embr.201744632. Epub 2017 Dec 20. EMBO Rep. 2018. PMID: 29263200 Free PMC article.
PROKR2 mutations in autosomal recessive Kallmann syndrome.
Tommiska J, Toppari J, Vaaralahti K, Känsäkoski J, Laitinen EM, Noisa P, Kinnala A, Niinikoski H, Raivio T. Tommiska J, et al. Among authors: kansakoski j. Fertil Steril. 2013 Mar 1;99(3):815-8. doi: 10.1016/j.fertnstert.2012.11.003. Epub 2012 Nov 29. Fertil Steril. 2013. PMID: 23200691 Free article.
Loss-of-Function Variants in TBC1D32 Underlie Syndromic Hypopituitarism.
Hietamäki J, Gregory LC, Ayoub S, Iivonen AP, Vaaralahti K, Liu X, Brandstack N, Buckton AJ, Laine T, Känsäkoski J, Hero M, Miettinen PJ, Varjosalo M, Wakeling E, Dattani MT, Raivio T. Hietamäki J, et al. Among authors: kansakoski j. J Clin Endocrinol Metab. 2020 Jun 1;105(6):1748-58. doi: 10.1210/clinem/dgaa078. J Clin Endocrinol Metab. 2020. PMID: 32060556 Free PMC article.
Genetics of congenital hypogonadotropic hypogonadism in Denmark.
Tommiska J, Känsäkoski J, Christiansen P, Jørgensen N, Lawaetz JG, Juul A, Raivio T. Tommiska J, et al. Among authors: kansakoski j. Eur J Med Genet. 2014 Jul;57(7):345-8. doi: 10.1016/j.ejmg.2014.04.002. Epub 2014 Apr 13. Eur J Med Genet. 2014. PMID: 24732674
24 results