Research output per year
Research output per year
Search results
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2024
A splice site variant in MADD affects hormone expression in pancreatic β cells and pituitary gonadotropes
Pulli, K., Saarimäki-Vire, J., Ahonen, P., Liu, X., Ibrahim, H., Chandra, V., Santambrogio, A., Wang, Y., Vaaralahti, K., Iivonen, A.-P., Känsäkoski, J., Tommiska, J., Kemkem, Y., Varjosalo, M., Vuoristo, S., Andoniadou, C. L., Otonkoski, T. & Raivio, T., 22 May 2024, In: JCI INSIGHT. 9, 10, 23 p., e167598.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile -
2022
Presentation and diagnosis of childhood-onset combined pituitary hormone deficiency: A single center experience from over 30 years
Hietamäki, J., Kärkinen, J., Iivonen, A. P., Vaaralahti, K., Tarkkanen, A., Almusa, H., Huopio, H., Hero, M., Miettinen, P. J. & Raivio, T., Sept 2022, In: EClinicalMedicine. 51, 21 p., 101556.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile -
2021
Familial central precocious puberty: two novel MKRN3 mutations
Varimo, T., Iivonen, A.-P., Känsäkoski, J., Wehkalampi, K., Hero, M., Vaaralahti, K., Miettinen, P. J., Niedziela, M. & Raivio, T., 2021, In: Pediatric Research. 90, p. 431-535 5 p.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile -
Kallmann syndrome in a patient with Weiss-Kruszka syndrome and a de novo deletion in 9q31.2
Iivonen, A.-P., Kärkinen, J., Yellapragada, V., Sidoroff, V., Almusa, H., Vaaralahti, K. & Raivio, T., Jan 2021, In: European Journal of Endocrinology. 185, 1, p. 57-66 10 p.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile -
2020
Loss-of-Function Variants in TBC1D32 Underlie Syndromic Hypopituitarism
Hietamäki, J., Gregory, L. C., Ayoub, S., Iivonen, A.-P., Vaaralahti, K., Liu, X., Brandstack, N., Buckton, A. J., Laine, T., Känsäkoski, J., Hero, M., Miettinen, P. J., Varjosalo, M., Wakeling, E., Dattani, M. T. & Raivio, T., 1 Jun 2020, In: Journal of Clinical Endocrinology and Metabolism. 105, 6, p. 1748-1758 11 p.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile -
2019
Screening for mutations in selected miRNA genes in hypogonadotropic hypogonadism patients
Iivonen, A.-P., Känsäkoski, J., Vaaralahti, K. & Raivio, T., May 2019, In: Endocrine Connections. 8, 5, p. 506-509 4 p.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile -
2018
Screening for germline KCNQ1 and KCNE2 mutations in a set of somatotropinoma patients
Iivonen, A.-P., Känsäkoski, J., Karppinen, A., Kivipelto, L., Schalin-Jäntti, C., Karhu, A. & Raivio, T., 1 May 2018, In: Endocrine Connections. 7, 5, p. 645-652 8 p.Research output: Contribution to journal › Article › Scientific › peer-review
Open Access -
2017
GnRH receptor gene mutations in adolescents and young adults presenting with signs of partial gonadotropin deficiency
Hietamaki, J., Hero, M., Holopainen, E., Kansakoski, J., Vaaralahti, K., Iivonen, A.-P., Miettinen, P. J. & Raivio, T., 28 Nov 2017, In: PLoS One. 12, 11, 11 p., 0188750.Research output: Contribution to journal › Article › Scientific › peer-review
Open AccessFile