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129 results

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Page 1
Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability.
Tan NB, Pagnamenta AT, Ferla MP, Gadian J, Chung BH, Chan MC, Fung JL, Cook E, Guter S, Boschann F, Heinen A, Schallner J, Mignot C, Keren B, Whalen S, Sarret C, Mittag D, Demmer L, Stapleton R, Saida K, Matsumoto N, Miyake N, Sheffer R, Mor-Shaked H, Barnett CP, Byrne AB, Scott HS, Kraus A, Cappuccio G, Brunetti-Pierri N, Iorio R, Di Dato F, Pais LS, Yeung A, Tan TY, Taylor JC, Christodoulou J, White SM. Tan NB, et al. Among authors: heinen a. J Med Genet. 2022 May;59(5):511-516. doi: 10.1136/jmedgenet-2020-107462. Epub 2021 Jun 28. J Med Genet. 2022. PMID: 34183358
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.
Stegmann JD, Kalanithy JC, Dworschak GC, Ishorst N, Mingardo E, Lopes FM, Ho YM, Grote P, Lindenberg TT, Yilmaz Ö, Channab K, Seltzsam S, Shril S, Hildebrandt F, Boschann F, Heinen A, Jolly A, Myers K, McBride K, Bekheirnia MR, Bekheirnia N, Scala M, Morleo M, Nigro V, Torella A; TUDP consortium; Pinelli M, Capra V, Accogli A, Maitz S, Spano A, Olson RJ, Klee EW, Lanpher BC, Jang SS, Chae JH, Steinbauer P, Rieder D, Janecke AR, Vodopiutz J, Vogel I, Blechingberg J, Cohen JL, Riley K, Klee V, Walsh LE, Begemann M, Elbracht M, Eggermann T, Stoppe A, Stuurman K, van Slegtenhorst M, Barakat TS, Mulhern MS, Sands TT, Cytrynbaum C, Weksberg R, Isidori F, Pippucci T, Severi G, Montanari F, Kruer MC, Bakhtiari S, Darvish H, Reutter H, Hagelueken G, Geyer M, Woolf AS, Posey JE, Lupski JR, Odermatt B, Hilger AC. Stegmann JD, et al. Among authors: heinen a. NPJ Genom Med. 2024 Mar 1;9(1):18. doi: 10.1038/s41525-024-00398-9. NPJ Genom Med. 2024. PMID: 38429302 Free PMC article.
Transition for adolescents with a rare disease: results of a nationwide German project.
Grasemann C, Höppner J, Burgard P, Schündeln MM, Matar N, Müller G, Krude H, Berner R, Lee-Kirsch MA, Hauck F, Wainwright K, Baumgarten S, Atinga J, Bauer JJ, Manka E, Körholz J, Kiewert C, Heinen A, Kretschmer T, Kurth T, Mittnacht J, Schramm C, Klein C, Graessner H, Hiort O, Muntau AC, Grüters A, Hoffmann GF, Choukair D. Grasemann C, et al. Among authors: heinen a. Orphanet J Rare Dis. 2023 Apr 25;18(1):93. doi: 10.1186/s13023-023-02698-2. Orphanet J Rare Dis. 2023. PMID: 37098531 Free PMC article.
[OCT, Triple H or anything else?].
Heinen A, Erlebach R, Schrimpf C, Bonani M, Ganter CC, David S, Andermatt R. Heinen A, et al. Inn Med (Heidelb). 2024 Feb;65(2):176-179. doi: 10.1007/s00108-023-01559-1. Epub 2023 Jul 5. Inn Med (Heidelb). 2024. PMID: 37407743 Free PMC article. German.
The T-cell-directed vaccine BNT162b4 encoding conserved non-spike antigens protects animals from severe SARS-CoV-2 infection.
Arieta CM, Xie YJ, Rothenberg DA, Diao H, Harjanto D, Meda S, Marquart K, Koenitzer B, Sciuto TE, Lobo A, Zuiani A, Krumm SA, Cadima Couto CI, Hein S, Heinen AP, Ziegenhals T, Liu-Lupo Y, Vogel AB, Srouji JR, Fesser S, Thanki K, Walzer K, Addona TA, Türeci Ö, Şahin U, Gaynor RB, Poran A. Arieta CM, et al. Among authors: heinen ap. Cell. 2023 May 25;186(11):2392-2409.e21. doi: 10.1016/j.cell.2023.04.007. Epub 2023 Apr 13. Cell. 2023. PMID: 37164012 Free PMC article.
IL-17 Signaling in Keratinocytes Orchestrates the Defense against Staphylococcus aureus Skin Infection.
Moos S, Regen T, Wanke F, Tian Y, Arendholz LT, Hauptmann J, Heinen AP, Bleul L, Bier K, El Malki K, Reinhardt C, Prinz I, Diefenbach A, Wolz C, Schittek B, Waisman A, Kurschus FC. Moos S, et al. Among authors: heinen ap. J Invest Dermatol. 2023 Jul;143(7):1257-1267.e10. doi: 10.1016/j.jid.2023.01.016. Epub 2023 Feb 2. J Invest Dermatol. 2023. PMID: 36736996
Cardioprotective efficacy of limb remote ischaemic preconditioning in rats: discrepancy between a meta-analysis and a three-centre in vivo study.
Sayour NV, Brenner GB, Makkos A, Kiss B, Kovácsházi C, Gergely TG, Aukrust SG, Tian H, Zenkl V, Gömöri K, Szabados T, Bencsik P, Heinen A, Schulz R, Baxter GF, Zuurbier CJ, Vokó Z, Ferdinandy P, Giricz Z. Sayour NV, et al. Among authors: heinen a. Cardiovasc Res. 2023 Jun 13;119(6):1336-1351. doi: 10.1093/cvr/cvad024. Cardiovasc Res. 2023. PMID: 36718529 Free PMC article.
129 results