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1996 1
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Page 1
A deep intronic splice-altering AIRE variant causes APECED syndrome through antisense oligonucleotide-targetable pseudoexon inclusion.
Ochoa S, Hsu AP, Oler AJ, Kumar D, Chauss D, van Hamburg JP, van Laar GG, Oikonomou V, Ganesan S, Ferré EMN, Schmitt MM, DiMaggio T, Barber P, Constantine GM, Rosen LB, Auwaerter PG, Gandhi B, Miller JL, Eisenberg R, Rubinstein A, Schussler E, Balliu E, Shashi V, Neth O, Olbrich P, Le KM, Mamia N, Laakso S, Nevalainen PI, Grönholm J, Seppänen MRJ, Boon L, Uzel G, Franco LM, Heller T, Winer KK, Ghosh R, Seifert BA, Walkiewicz M, Notarangelo LD, Zhou Q, Askentijevich I, Gahl W, Dalgard CL, Perera L, Afzali B, Tas SW, Holland SM, Lionakis MS. Ochoa S, et al. Among authors: nevalainen pi. Sci Transl Med. 2024 Sep 18;16(765):eadk0845. doi: 10.1126/scitranslmed.adk0845. Epub 2024 Sep 18. Sci Transl Med. 2024. PMID: 39292801 Free PMC article.
Expert Consensus on the Primary Aldosteronism Severity Classification and its strategic application in indicating adrenal venous sampling.
Murakami M, Naruse M, Kobayashi H, Parasiliti-Caprino M, Bioletto F, Brüdgam D, Stüfchen I, Reincke M, St-Jean M, Kraljevic I, Kastelan D, Nevalainen PI, Araujo-Castro M, Sukor N, Nijhoff MF, Matrozova J, Ragnarsson O, Shafigullina Z, Matikainen N, Markou A, Piaditis G, Izawa S, Katabami T, Ichijo T, Tanabe A, Tsuiki M, Kakutani M, Wada N, Masuda S, Bacca AV, Beuschlein F, Maiolino G, Falhammar H, Grytaas MA, Løvås K, Almeida MQ, Furnica RM, Puar T, Kmieć P, Masi S, Bourdeau I, Amar L, Dennedy MC, Fallo F, Deinum J, O'Toole S, Yamada T, Quinkler M, Lacroix A, Kocjan T. Murakami M, et al. Among authors: nevalainen pi. Eur J Endocrinol. 2025 Jun 30;193(1):85-96. doi: 10.1093/ejendo/lvaf117. Eur J Endocrinol. 2025. PMID: 40485198
Adrenal aldosterone synthase (CYP11B2) histopathology and its association with disease-induced sudden death: a cross-sectional study.
Ylänen A, Isojärvi J, Virtanen A, Leijon H, Vesterinen T, Aro AL, Huhtala H, Kokko E, Pörsti I, Viukari M, Nevalainen PI, Matikainen N. Ylänen A, et al. Among authors: nevalainen pi. Lancet Reg Health Eur. 2025 Feb 6;51:101226. doi: 10.1016/j.lanepe.2025.101226. eCollection 2025 Apr. Lancet Reg Health Eur. 2025. PMID: 39995489 Free PMC article.
Type 1 tyrosinemia in Finland: a nationwide study.
Äärelä L, Hiltunen P, Soini T, Vuorela N, Huhtala H, Nevalainen PI, Heikinheimo M, Kivelä L, Kurppa K. Äärelä L, et al. Among authors: nevalainen pi. Orphanet J Rare Dis. 2020 Oct 12;15(1):281. doi: 10.1186/s13023-020-01547-w. Orphanet J Rare Dis. 2020. PMID: 33046095 Free PMC article.
Clinical significance of CYP11B2 immunostaining in unilateral primary aldosteronism.
Viukari M, Leijon H, Vesterinen T, Söderlund S, Hämäläinen P, Yliaska I, Rautiainen P, Rintamäki R, Soinio M, Pörsti I, Nevalainen PI, Matikainen N. Viukari M, et al. Among authors: nevalainen pi. Endocr Connect. 2024 Jan 12;13(2):e230344. doi: 10.1530/EC-23-0344. Print 2024 Feb 1. Endocr Connect. 2024. PMID: 38051154 Free PMC article.
37 results