Vaaralahti K - Search Results

1

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: vaaralahti k. 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.

2

Serum FGF21 in boys with idiopathic short stature: relationship to lipid profile, onset of puberty and growth.

Hero M, Dunkel L, Vaaralahti K, Raivio T. Hero M, et al. Among authors: vaaralahti k. Clin Endocrinol (Oxf). 2011 Jul;75(1):141-2. doi: 10.1111/j.1365-2265.2011.03999.x. Clin Endocrinol (Oxf). 2011. PMID: 21521270 No abstract available.

3

Childhood growth of females with Kallmann syndrome and FGFR1 mutations.

Hero M, Laitinen EM, Varimo T, Vaaralahti K, Tommiska J, Raivio T. Hero M, et al. Among authors: vaaralahti k. Clin Endocrinol (Oxf). 2015 Jan;82(1):122-6. doi: 10.1111/cen.12504. Epub 2014 Jun 25. Clin Endocrinol (Oxf). 2015. PMID: 24841555

4

Circulating makorin ring-finger protein-3 (MKRN3) levels in healthy men and in men with hypogonadotropic hypogonadism.

Varimo T, Hero M, Känsäkoski J, Vaaralahti K, Matikainen N, Raivio T. Varimo T, et al. Among authors: vaaralahti k. Clin Endocrinol (Oxf). 2016 Jan;84(1):151-2. doi: 10.1111/cen.12851. Epub 2015 Aug 6. Clin Endocrinol (Oxf). 2016. PMID: 26175221 No abstract available.

5

GnRH receptor gene mutations in adolescents and young adults presenting with signs of partial gonadotropin deficiency.

Hietamäki J, Hero M, Holopainen E, Känsäkoski J, Vaaralahti K, Iivonen AP, Miettinen PJ, Raivio T. Hietamäki J, et al. Among authors: vaaralahti k. PLoS One. 2017 Nov 28;12(11):e0188750. doi: 10.1371/journal.pone.0188750. eCollection 2017. PLoS One. 2017. PMID: 29182666 Free PMC article.

6

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: vaaralahti k. Endocr Connect. 2019 May 1;8(5):506-509. doi: 10.1530/EC-19-0080. Endocr Connect. 2019. PMID: 30999277 Free PMC article.

7

Familial central precocious puberty: two novel MKRN3 mutations.

Varimo T, Iivonen AP, Känsäkoski J, Wehkalampi K, Hero M, Vaaralahti K, Miettinen PJ, Niedziela M, Raivio T. Varimo T, et al. Among authors: vaaralahti k. Pediatr Res. 2021 Aug;90(2):431-435. doi: 10.1038/s41390-020-01270-z. Epub 2020 Nov 19. Pediatr Res. 2021. PMID: 33214675

8

Kallmann syndrome in a patient with Weiss-Kruszka syndrome and a de novo deletion in 9q31.2.

Iivonen AP, Kärkinen J, Yellapragada V, Sidoroff V, Almusa H, Vaaralahti K, Raivio T. Iivonen AP, et al. Among authors: vaaralahti k. Eur J Endocrinol. 2021 May 21;185(1):57-66. doi: 10.1530/EJE-20-1387. Eur J Endocrinol. 2021. PMID: 33909591 Free PMC article.

9

Presentation and diagnosis of childhood-onset combined pituitary hormone deficiency: A single center experience from over 30 years.

Hietamäki J, Kärkinen J, Iivonen AP, Vaaralahti K, Tarkkanen A, Almusa H, Huopio H, Hero M, Miettinen PJ, Raivio T. Hietamäki J, et al. Among authors: vaaralahti k. EClinicalMedicine. 2022 Jul 18;51:101556. doi: 10.1016/j.eclinm.2022.101556. eCollection 2022 Sep. EClinicalMedicine. 2022. PMID: 35875813 Free PMC article.

10

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. Among authors: vaaralahti k. Hum Reprod. 2018 Feb 1;33(2):328-330. doi: 10.1093/humrep/dex363. Hum Reprod. 2018. PMID: 29228280

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