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Update of penetrance estimates in Birt-Hogg-Dubé syndrome.
Bruinsma FJ, Dowty JG, Win AK, Goddard LC, Agrawal P, Attina' D, Bissada N, De Luise M, Eisen DB, Furuya M, Gasparre G, Genuardi M, Gerdes AM, Hansen TVO, Houweling AC, Johannesma PC, Lencastre A, Lim D, Lindor NM, Luzzi V, Lynch M, Maffé A, Menko FH, Michels G, Pulido JS, Ryu JH, Sattler EC, Steinlein OK, Tomassetti S, Tucker K, Turchetti D, van de Beek I, van Riel L, van Steensel M, Zenone T, Zompatori M, Walsh J, Bondavalli D, Maher ER, Winship IM; Genetic Susceptibility Working Group I-CONFIRM. Bruinsma FJ, et al. Among authors: steinlein ok. J Med Genet. 2023 Apr;60(4):317-326. doi: 10.1136/jmg-2022-109104. Epub 2023 Feb 27. J Med Genet. 2023. PMID: 36849229 Review.
Mutations in plasticity-related-gene-1 (PRG-1) protein contribute to hippocampal seizure susceptibility and modify epileptic phenotype.
Knierim E, Vogt J, Kintscher M, Ponomarenko A, Baumgart J, Beed P, Korotkova T, Trimbuch T, Panzer A, Steinlein OK, Stephani U, Escayg A, Koko M, Liu Y, Lerche H, Schmitz D, Nitsch R, Schuelke M. Knierim E, et al. Among authors: steinlein ok. Cereb Cortex. 2023 Jun 8;33(12):7454-7467. doi: 10.1093/cercor/bhad051. Cereb Cortex. 2023. PMID: 36977636
Seventh BHD international symposium: recent scientific and clinical advancement.
Woodford MR, Andreou A, Baba M, van de Beek I, Di Malta C, Glykofridis I, Grimes H, Henske EP, Iliopoulos O, Kurihara M, Lazor R, Linehan WM, Matsumoto K, Marciniak SJ, Namba Y, Pause A, Rajan N, Ray A, Schmidt LS, Shi W, Steinlein OK, Thierauf J, Zoncu R, Webb A, Mollapour M. Woodford MR, et al. Among authors: steinlein ok. Oncotarget. 2022 Jan 20;13:173-181. doi: 10.18632/oncotarget.28176. eCollection 2022. Oncotarget. 2022. PMID: 35070081 Free PMC article.
Progranulin signaling in sepsis, community-acquired bacterial pneumonia and COVID-19: a comparative, observational study.
Brandes F, Borrmann M, Buschmann D, Meidert AS, Reithmair M, Langkamp M, Pridzun L, Kirchner B, Billaud JN, Amin NM, Pearson JC, Klein M, Hauer D, Gevargez Zoubalan C, Lindemann A, Choukér A, Felbinger TW, Steinlein OK, Pfaffl MW, Kaufmann I, Schelling G. Brandes F, et al. Among authors: steinlein ok. Intensive Care Med Exp. 2021 Sep 3;9(1):43. doi: 10.1186/s40635-021-00406-7. Intensive Care Med Exp. 2021. PMID: 34476621 Free PMC article.
[Cancer-associated genodermatoses].
Frommherz LH, Steinlein OK, French LE, Sattler EC. Frommherz LH, et al. Among authors: steinlein ok. Hautarzt. 2021 Apr;72(4):288-294. doi: 10.1007/s00105-021-04779-4. Epub 2021 Mar 4. Hautarzt. 2021. PMID: 33661338 Review. German.
126 results