Känsäkoski J - Search Results

1

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.

2

New intronic Fibroblast Growth Factor Receptor 1 (FGFR1) mutation leading to disrupted splicing and Kallmann syndrome.

Känsäkoski J, Vaaralahti K, Raivio T. Känsäkoski J, et al. Hum Reprod. 2018 Feb 1;33(2):328-330. doi: 10.1093/humrep/dex363. Hum Reprod. 2018. PMID: 29228280

3

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.

4

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.

5

De novo SOX10 nonsense mutation in a patient with Kallmann syndrome and hearing loss.

Vaaralahti K, Tommiska J, Tillmann V, Liivak N, Känsäkoski J, Laitinen EM, Raivio T. Vaaralahti K, et al. Among authors: kansakoski j. Pediatr Res. 2014 Jul;76(1):115-6. doi: 10.1038/pr.2014.60. Epub 2014 Apr 25. Pediatr Res. 2014. PMID: 24769923 No abstract available.

6

A missense mutation in MKRN3 in a Danish girl with central precocious puberty and her brother with early puberty.

Känsäkoski J, Raivio T, Juul A, Tommiska J. Känsäkoski J, et al. Pediatr Res. 2015 Dec;78(6):709-11. doi: 10.1038/pr.2015.159. Epub 2015 Sep 2. Pediatr Res. 2015. PMID: 26331766

7

Screening for mutations in selected miRNA genes in hypogonadotropic hypogonadism patients.

Iivonen AP, Känsäkoski J, Vaaralahti K, Raivio T. Iivonen AP, et al. Among authors: kansakoski j. Endocr Connect. 2019 May 1;8(5):506-509. doi: 10.1530/EC-19-0080. Endocr Connect. 2019. PMID: 30999277 Free PMC article.

8

Mutation screening of SEMA3A and SEMA7A in patients with congenital hypogonadotropic hypogonadism.

Känsäkoski J, Fagerholm R, Laitinen EM, Vaaralahti K, Hackman P, Pitteloud N, Raivio T, Tommiska J. Känsäkoski J, et al. Pediatr Res. 2014 May;75(5):641-4. doi: 10.1038/pr.2014.23. Epub 2014 Feb 12. Pediatr Res. 2014. PMID: 24522099

9

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

10

Congenital hypogonadotropic hypogonadism, functional hypogonadotropism or constitutional delay of growth and puberty? An analysis of a large patient series from a single tertiary center.

Varimo T, Miettinen PJ, Känsäkoski J, Raivio T, Hero M. Varimo T, et al. Among authors: kansakoski j. Hum Reprod. 2017 Jan;32(1):147-153. doi: 10.1093/humrep/dew294. Epub 2016 Dec 6. Hum Reprod. 2017. PMID: 27927844

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