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Page 1
Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype-phenotype correlations.
Raidt J, Riepenhausen S, Pennekamp P, Olbrich H, Amirav I, Athanazio RA, Aviram M, Balinotti JE, Bar-On O, Bode SFN, Boon M, Borrelli M, Carr SB, Crowley S, Dehlink E, Diepenhorst S, Durdik P, Dworniczak B, Emiralioğlu N, Erdem E, Fonnesu R, Gracci S, Große-Onnebrink J, Gwozdziewicz K, Haarman EG, Hansen CR, Hogg C, Holgersen MG, Kerem E, Körner RW, Kötz K, Kouis P, Loebinger MR, Lorent N, Lucas JS, Maj D, Mall MA, Marthin JK, Martinu V, Mazurek H, Mitchison HM, Nöthe-Menchen T, Özçelik U, Pifferi M, Pogorzelski A, Ringshausen FC, Roehmel JF, Rovira-Amigo S, Rumman N, Schlegtendal A, Shoemark A, Sperstad Kennelly S, Staar BO, Sutharsan S, Thomas S, Ullmann N, Varghese J, von Hardenberg S, Walker WT, Wetzke M, Witt M, Yiallouros P, Zschocke A, Ziętkiewicz E, Nielsen KG, Omran H. Raidt J, et al. Among authors: von hardenberg s. Eur Respir J. 2024 Aug 8;64(2):2301769. doi: 10.1183/13993003.01769-2023. Print 2024 Aug. Eur Respir J. 2024. PMID: 38871375 Free PMC article.
Phenotypic and pathomechanistic overlap between tapasin and TAP deficiencies.
Elsayed A, von Hardenberg S, Atschekzei F, Graalmann T, Jänke C, Witte T, Ringshausen FC, Sogkas G. Elsayed A, et al. Among authors: von hardenberg s. J Allergy Clin Immunol. 2024 Oct;154(4):1069-1075. doi: 10.1016/j.jaci.2024.06.003. Epub 2024 Jun 10. J Allergy Clin Immunol. 2024. PMID: 38866210 Free article.
A novel NFKBIA variant substituting serine 36 of IκBα causes immunodeficiency with warts, bronchiectasis and juvenile rheumatoid arthritis in the absence of ectodermal dysplasia.
Sogkas G, Adriawan IR, Ringshausen FC, Baumann U, Schröder C, Klemann C, von Hardenberg S, Schmidt G, Bernd A, Jablonka A, Ernst D, Schmidt RE, Atschekzei F. Sogkas G, et al. Among authors: von hardenberg s. Clin Immunol. 2020 Jan;210:108269. doi: 10.1016/j.clim.2019.108269. Epub 2019 Nov 1. Clin Immunol. 2020. PMID: 31683054
Biomarkers of DNA Damage Response Enable Flow Cytometry-Based Diagnostic to Identify Inborn DNA Repair Defects in Primary Immunodeficiencies.
Felgentreff K, Baumann U, Klemann C, Schuetz C, Viemann D, Wetzke M, Pannicke U, von Hardenberg S, Auber B, Debatin KM, Jacobsen EM, Hoenig M, Schulz A, Schwarz K. Felgentreff K, et al. Among authors: von hardenberg s. J Clin Immunol. 2022 Feb;42(2):286-298. doi: 10.1007/s10875-021-01156-7. Epub 2021 Oct 30. J Clin Immunol. 2022. PMID: 34716846 Free PMC article.
Systematic genetic analysis of pediatric patients with autoinflammatory diseases.
Poker Y, von Hardenberg S, Hofmann W, Tang M, Baumann U, Schwerk N, Wetzke M, Lindenthal V, Auber B, Schlegelberger B, Ott H, von Bismarck P, Viemann D, Dressler F, Klemann C, Bergmann AK. Poker Y, et al. Among authors: von hardenberg s, von bismarck p. Front Genet. 2023 Jan 27;14:1065907. doi: 10.3389/fgene.2023.1065907. eCollection 2023. Front Genet. 2023. PMID: 36777733 Free PMC article.
Phenotypic spectrum in recessive STING-associated vasculopathy with onset in infancy: Four novel cases and analysis of previously reported cases.
Wan R, Fänder J, Zakaraia I, Lee-Kirsch MA, Wolf C, Lucas N, Olfe LI, Hendrich C, Jonigk D, Holzinger D, Steindor M, Schmidt G, Davenport C, Klemann C, Schwerk N, Griese M, Schlegelberger B, Stehling F, Happle C, Auber B, Steinemann D, Wetzke M, von Hardenberg S. Wan R, et al. Among authors: von hardenberg s. Front Immunol. 2022 Oct 6;13:1029423. doi: 10.3389/fimmu.2022.1029423. eCollection 2022. Front Immunol. 2022. PMID: 36275728 Free PMC article.
Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency.
Vavassori S, Chou J, Faletti LE, Haunerdinger V, Opitz L, Joset P, Fraser CJ, Prader S, Gao X, Schuch LA, Wagner M, Hoefele J, Maccari ME, Zhu Y, Elakis G, Gabbett MT, Forstner M, Omran H, Kaiser T, Kessler C, Olbrich H, Frosk P, Almutairi A, Platt CD, Elkins M, Weeks S, Rubin T, Planas R, Marchetti T, Koovely D, Klämbt V, Soliman NA, von Hardenberg S, Klemann C, Baumann U, Lenz D, Klein-Franke A, Schwemmle M, Huber M, Sturm E, Hartleif S, Häffner K, Gimpel C, Brotschi B, Laube G, Güngör T, Buckley MF, Kottke R, Staufner C, Hildebrandt F, Reu-Hofer S, Moll S, Weber A, Kaur H, Ehl S, Hiller S, Geha R, Roscioli T, Griese M, Pachlopnik Schmid J. Vavassori S, et al. Among authors: von hardenberg s. J Allergy Clin Immunol. 2021 Aug;148(2):381-393. doi: 10.1016/j.jaci.2021.03.045. Epub 2021 Apr 17. J Allergy Clin Immunol. 2021. PMID: 33872655 Free PMC article. Clinical Trial.
Current genetic diagnostics in inborn errors of immunity.
von Hardenberg S, Klefenz I, Steinemann D, Di Donato N, Baumann U, Auber B, Klemann C. von Hardenberg S, et al. Front Pediatr. 2024 Apr 10;12:1279112. doi: 10.3389/fped.2024.1279112. eCollection 2024. Front Pediatr. 2024. PMID: 38659694 Free PMC article. Review.
34 results