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Page 1
Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes.
Salzer U, Bacchelli C, Buckridge S, Pan-Hammarström Q, Jennings S, Lougaris V, Bergbreiter A, Hagena T, Birmelin J, Plebani A, Webster AD, Peter HH, Suez D, Chapel H, McLean-Tooke A, Spickett GP, Anover-Sombke S, Ochs HD, Urschel S, Belohradsky BH, Ugrinovic S, Kumararatne DS, Lawrence TC, Holm AM, Franco JL, Schulze I, Schneider P, Gertz EM, Schäffer AA, Hammarström L, Thrasher AJ, Gaspar HB, Grimbacher B. Salzer U, et al. Among authors: bergbreiter a. Blood. 2009 Feb 26;113(9):1967-76. doi: 10.1182/blood-2008-02-141937. Epub 2008 Nov 3. Blood. 2009. PMID: 18981294 Free PMC article.
Dual guidance structure for evaluation of patients with unclear diagnosis in centers for rare diseases (ZSE-DUO): study protocol for a controlled multi-center cohort study.
Hebestreit H, Zeidler C, Schippers C, de Zwaan M, Deckert J, Heuschmann P, Krauth C, Bullinger M, Berger A, Berneburg M, Brandstetter L, Deibele A, Dieris-Hirche J, Graessner H, Gündel H, Herpertz S, Heuft G, Lapstich AM, Lücke T, Maisch T, Mundlos C, Petermann-Meyer A, Müller S, Ott S, Pfister L, Quitmann J, Romanos M, Rutsch F, Schaubert K, Schubert K, Schulz JB, Schweiger S, Tüscher O, Ungethüm K, Wagner TOF, Haas K; ZSE-DUO working group. Hebestreit H, et al. Orphanet J Rare Dis. 2022 Feb 14;17(1):47. doi: 10.1186/s13023-022-02176-1. Orphanet J Rare Dis. 2022. PMID: 35164804 Free PMC article.
A convolutional neural network trained with dermoscopic images performed on par with 145 dermatologists in a clinical melanoma image classification task.
Brinker TJ, Hekler A, Enk AH, Klode J, Hauschild A, Berking C, Schilling B, Haferkamp S, Schadendorf D, Fröhling S, Utikal JS, von Kalle C; Collaborators. Brinker TJ, et al. Eur J Cancer. 2019 Apr;111:148-154. doi: 10.1016/j.ejca.2019.02.005. Epub 2019 Mar 8. Eur J Cancer. 2019. PMID: 30852421 Free article.
Recurrent necrotizing cellulitis, multi-organ autoimmune disease and humoral immunodeficiency due to a novel NFKB1 frameshift mutation.
Bergbreiter A, Jaeger T, Karle A, Bitzinger D, Ettl T, Spanier G, Jägle H, Neu R, Söder Y, Evert M, Reichert TE, Berneburg M, Brochhausen C, Schreml J, Fliegauf M, Salzer U, Redel A, Schreml S. Bergbreiter A, et al. Eur J Med Genet. 2021 Mar;64(3):104144. doi: 10.1016/j.ejmg.2021.104144. Epub 2021 Jan 22. Eur J Med Genet. 2021. PMID: 33486103
Novel mutations in TACI (TNFRSF13B) causing common variable immunodeficiency.
Mohammadi J, Liu C, Aghamohammadi A, Bergbreiter A, Du L, Lu J, Rezaei N, Amirzargar AA, Moin M, Salzer U, Pan-Hammarström Q, Hammarström L. Mohammadi J, et al. Among authors: bergbreiter a. J Clin Immunol. 2009 Nov;29(6):777-85. doi: 10.1007/s10875-009-9317-5. Epub 2009 Jul 23. J Clin Immunol. 2009. PMID: 19629655
Genetic CD21 deficiency is associated with hypogammaglobulinemia.
Thiel J, Kimmig L, Salzer U, Grudzien M, Lebrecht D, Hagena T, Draeger R, Voelxen N, Bergbreiter A, Jennings S, Gutenberger S, Aichem A, Illges H, Hannan JP, Kienzler AK, Rizzi M, Eibel H, Peter HH, Warnatz K, Grimbacher B, Rump JA, Schlesier M. Thiel J, et al. Among authors: bergbreiter a. J Allergy Clin Immunol. 2012 Mar;129(3):801-810.e6. doi: 10.1016/j.jaci.2011.09.027. Epub 2011 Oct 27. J Allergy Clin Immunol. 2012. PMID: 22035880
16 results