Jakkula E - Search Results

1

Estimation of carrier frequencies of autosomal and X-linked recessive genetic conditions based on gnomAD v4.0 data in different ancestries.

Hotakainen R, Järvinen T, Kettunen K, Anttonen AK, Jakkula E. Hotakainen R, et al. Among authors: jakkula e. Genet Med. 2024 Nov 1;27(1):101304. doi: 10.1016/j.gim.2024.101304. Online ahead of print. Genet Med. 2024. PMID: 39492094 Free article.

2

Pathogenic Germline Variants in Uveal Melanoma Driver and BAP1-Associated Genes in Finnish Patients with Uveal Melanoma.

Repo PE, Jakkula E, Hiltunen J, Putkuri H, Staskiewicz-Tuikkanen A, Järvinen RS, Täll M, Raivio V, Al-Jamal RT, Kivelä TT, Turunen JA. Repo PE, et al. Among authors: jakkula e. Pigment Cell Melanoma Res. 2025 Jan;38(1):e13198. doi: 10.1111/pcmr.13198. Epub 2024 Sep 30. Pigment Cell Melanoma Res. 2025. PMID: 39344744 Free PMC article.

3

Estimation of carrier frequencies utilizing the gnomAD database for ACMG recommended carrier screening and Finnish disease heritage conditions in non-Finnish European, Finnish, and Ashkenazi Jewish populations.

Kandolin M, Pöyhönen M, Jakkula E. Kandolin M, et al. Among authors: jakkula e. Am J Med Genet A. 2024 Jul;194(7):e63588. doi: 10.1002/ajmg.a.63588. Epub 2024 Mar 8. Am J Med Genet A. 2024. PMID: 38459613

4

Comprehensive Inherited Risk Estimation for Risk-Based Breast Cancer Screening in Women.

Mars N, Kerminen S, Tamlander M, Pirinen M, Jakkula E, Aaltonen K, Meretoja T, Heinävaara S, Widén E, Ripatti S; FinnGen. Mars N, et al. Among authors: jakkula e. J Clin Oncol. 2024 May 1;42(13):1477-1487. doi: 10.1200/JCO.23.00295. Epub 2024 Feb 29. J Clin Oncol. 2024. PMID: 38422475 Free PMC article.

5

Relevance of Coding Variation in FLG And DOCK8 in Finnish Pediatric Patients with Early-Onset Moderate-To-Severe Atopic Dermatitis.

Perälä M, Kaustio M, Salava A, Jakkula E, Pelkonen AS, Saarela J, Remitz A, Mäkelä MJ. Perälä M, et al. Among authors: jakkula e. JID Innov. 2023 Apr 4;3(4):100203. doi: 10.1016/j.xjidi.2023.100203. eCollection 2023 Jul. JID Innov. 2023. PMID: 37533579 Free PMC article.

6

Multi-exon COL5A1 deletion in a child with classical Ehlers-Danlos syndrome: A case report expanding the allelic spectrum and showing evidence of parental gonosomal mosaicism.

Strang-Karlsson S, Keigwin S, Anttonen AK, Baker D, Bean K, Jakkula E. Strang-Karlsson S, et al. Among authors: jakkula e. Clin Case Rep. 2022 Oct 11;10(10):e6455. doi: 10.1002/ccr3.6455. eCollection 2022 Oct. Clin Case Rep. 2022. PMID: 36245460 Free PMC article.

7

Recessive MYH3 variants cause "Contractures, pterygia, and variable skeletal fusions syndrome 1B" mimicking Escobar variant multiple pterygium syndrome.

Hakonen AH, Lehtonen J, Kivirikko S, Keski-Filppula R, Moilanen J, Kivisaari R, Almusa H, Jakkula E, Saarela J, Avela K, Aittomäki K. Hakonen AH, et al. Among authors: jakkula e. Am J Med Genet A. 2020 Nov;182(11):2605-2610. doi: 10.1002/ajmg.a.61836. Epub 2020 Sep 9. Am J Med Genet A. 2020. PMID: 32902138

8

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: jakkula e. 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

9

Whole exome sequencing in Finnish families identifies new candidate genes for osteoarthritis.

Skarp S, Kämäräinen OP, Wei GH, Jakkula E, Kiviranta I, Kröger H, Auvinen J, Lehenkari P, Ala-Kokko L, Männikkö M. Skarp S, et al. Among authors: jakkula e. PLoS One. 2018 Aug 29;13(8):e0203313. doi: 10.1371/journal.pone.0203313. eCollection 2018. PLoS One. 2018. PMID: 30157244 Free PMC article.

10

ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss.

Anttonen AK, Laari A, Kousi M, Yang YJ, Jääskeläinen T, Somer M, Siintola E, Jakkula E, Muona M, Tegelberg S, Lönnqvist T, Pihko H, Valanne L, Paetau A, Lun MP, Hästbacka J, Kopra O, Joensuu T, Katsanis N, Lehtinen MK, Palvimo JJ, Lehesjoki AE. Anttonen AK, et al. Among authors: jakkula e. Brain. 2017 May 1;140(5):1267-1279. doi: 10.1093/brain/awx040. Brain. 2017. PMID: 28335020

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