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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. Among authors: jagle h. 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
Systemic therapy of necrobiotic xanthogranuloma: a systematic review.
Steinhelfer L, Kühnel T, Jägle H, Mayer S, Karrer S, Haubner F, Schreml S. Steinhelfer L, et al. Among authors: jagle h. Orphanet J Rare Dis. 2022 Mar 24;17(1):132. doi: 10.1186/s13023-022-02291-z. Orphanet J Rare Dis. 2022. PMID: 35331271 Free PMC article. Review.
ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies.
Kitiratschky VB, Grau T, Bernd A, Zrenner E, Jägle H, Renner AB, Kellner U, Rudolph G, Jacobson SG, Cideciyan AV, Schaich S, Kohl S, Wissinger B. Kitiratschky VB, et al. Among authors: jagle h. Eur J Hum Genet. 2008 Jul;16(7):812-9. doi: 10.1038/ejhg.2008.23. Epub 2008 Feb 20. Eur J Hum Genet. 2008. PMID: 18285826 Free PMC article.
Orbital compartment: effects of emergent canthotomy and cantholysis.
Haubner F, Jägle H, Nunes DP, Schleder S, Cvetkova N, Kühnel T, Gassner HG. Haubner F, et al. Among authors: jagle h. Eur Arch Otorhinolaryngol. 2015 Feb;272(2):479-83. doi: 10.1007/s00405-014-3238-5. Epub 2014 Aug 13. Eur Arch Otorhinolaryngol. 2015. PMID: 25115315
Orbital floor fracture repair: the endonasal approach.
Kuhnel T, Jagle H, Hosemann W, Weber R, Vielsmeier V. Kuhnel T, et al. Among authors: jagle h. Rhinology. 2017 Dec 1;55(4):348-354. doi: 10.4193/Rhin16.334. Rhinology. 2017. PMID: 28887879
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.
Kohl S, Varsanyi B, Antunes GA, Baumann B, Hoyng CB, Jägle H, Rosenberg T, Kellner U, Lorenz B, Salati R, Jurklies B, Farkas A, Andreasson S, Weleber RG, Jacobson SG, Rudolph G, Castellan C, Dollfus H, Legius E, Anastasi M, Bitoun P, Lev D, Sieving PA, Munier FL, Zrenner E, Sharpe LT, Cremers FP, Wissinger B. Kohl S, et al. Among authors: jagle h. Eur J Hum Genet. 2005 Mar;13(3):302-8. doi: 10.1038/sj.ejhg.5201269. Eur J Hum Genet. 2005. PMID: 15657609
Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response.
Wissinger B, Schaich S, Baumann B, Bonin M, Jägle H, Friedburg C, Varsányi B, Hoyng CB, Dollfus H, Heckenlively JR, Rosenberg T, Rudolph G, Kellner U, Salati R, Plomp A, De Baere E, Andrassi-Darida M, Sauer A, Wolf C, Zobor D, Bernd A, Leroy BP, Enyedi P, Cremers FP, Lorenz B, Zrenner E, Kohl S. Wissinger B, et al. Among authors: jagle h. Hum Mutat. 2011 Dec;32(12):1398-406. doi: 10.1002/humu.21580. Epub 2011 Sep 12. Hum Mutat. 2011. PMID: 21882291 Free article.
120 results