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Year Number of Results
2013 1
2015 1
2017 1
2018 1
2019 3
2020 2
2021 6
2022 6
2023 9
2024 4

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28 results

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Page 1
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.
The transcription factor Bcl11b promotes both canonical and adaptive NK cell differentiation.
Holmes TD, Pandey RV, Helm EY, Schlums H, Han H, Campbell TM, Drashansky TT, Chiang S, Wu CY, Tao C, Shoukier M, Tolosa E, Von Hardenberg S, Sun M, Klemann C, Marsh RA, Lau CM, Lin Y, Sun JC, Månsson R, Cichocki F, Avram D, Bryceson YT. Holmes TD, et al. Among authors: von hardenberg s. Sci Immunol. 2021 Mar 12;6(57):eabc9801. doi: 10.1126/sciimmunol.abc9801. Sci Immunol. 2021. PMID: 33712472 Free PMC article.
A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature.
Strong A, Rao S, von Hardenberg S, Li D, Cox LL, Lee PC, Zhang LQ, Awotoye W, Diamond T, Gold J, Gooch C, Gowans LJJ, Hakonarson H, Hing A, Loomes K, Martin N, Marazita ML, Mononen T, Piccoli D, Pfundt R, Raskin S, Scherer SW, Sobriera N, Vaccaro C, Wang X, Watson D, Weksberg R, Bhoj E, Murray JC, Lidral AC, Butali A, Buckley MF, Roscioli T, Koolen DA, Seaver LH, Prows CA, Stottmann RW, Cox TC. Strong A, et al. Among authors: von hardenberg s. Am J Med Genet A. 2023 May;191(5):1227-1239. doi: 10.1002/ajmg.a.63130. Epub 2023 Feb 7. Am J Med Genet A. 2023. PMID: 36751037 Free PMC article.
Pulmonary Alveolar Microlithiasis: A novel patient and brief review of the literature.
de Oliveira Mekonnen A, Schwerk N, Schütz K, Schramm L, Dreissig A, Grewendorf S, Sukdolak C, Dopfer C, Auber B, von Hardenberg S, Happle C. de Oliveira Mekonnen A, et al. Among authors: von hardenberg s. Klin Padiatr. 2022 Sep;234(5):317-319. doi: 10.1055/a-1721-2545. Epub 2022 Feb 9. Klin Padiatr. 2022. PMID: 35139546 Review. English.
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation.
Nashabat M, Nabavizadeh N, Saraçoğlu HP, Sarıbaş B, Avcı Ş, Börklü E, Beillard E, Yılmaz E, Uygur SE, Kayhan CK, Bosco L, Eren ZB, Steindl K, Richter MF, Bademci G, Rauch A, Fattahi Z, Valentino ML, Connolly AM, Bahr A, Viola L, Bergmann AK, Rocha ME, Peart L, Castro-Rojas DL, Bültmann E, Khan S, Giarrana ML, Teleanu RI, Gonzalez JM, Pini A, Schädlich IS, Vill K, Brugger M, Zuchner S, Pinto A, Donkervoort S, Bivona SA, Riza A; Undiagnosed Diseases Network; Streata I, Gläser D, Baquero-Montoya C, Garcia-Restrepo N, Kotzaeridou U, Brunet T, Epure DA, Bertoli-Avella A, Kariminejad A, Tekin M, von Hardenberg S, Bönnemann CG, Stettner GM, Zanni G, Kayserili H, Oflazer ZP, Escande-Beillard N. Nashabat M, et al. Among authors: von hardenberg s. Nat Commun. 2024 Feb 27;15(1):1758. doi: 10.1038/s41467-024-45933-5. Nat Commun. 2024. PMID: 38413582 Free PMC article.
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.
Multilamellated Basement Membranes in the Capillary Network of Alveolar Capillary Dysplasia.
Kamp JC, Neubert L, Schupp JC, Braubach P, Wrede C, Laenger F, Salditt T, Reichmann J, Welte T, Ruhparwar A, Ius F, Schwerk N, Bergmann AK, von Hardenberg S, Griese M, Rapp C, Olsson KM, Fuge J, Park DH, Hoeper MM, Jonigk DD, Knudsen L, Kuehnel MP. Kamp JC, et al. Among authors: von hardenberg s. Am J Pathol. 2024 Feb;194(2):180-194. doi: 10.1016/j.ajpath.2023.10.012. Epub 2023 Nov 27. Am J Pathol. 2024. PMID: 38029923
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.
28 results