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Complement factor H-related protein 1 deficiency and factor H antibodies in pediatric patients with atypical hemolytic uremic syndrome.
Hofer J, Janecke AR, Zimmerhackl LB, Riedl M, Rosales A, Giner T, Cortina G, Haindl CJ, Petzelberger B, Pawlik M, Jeller V, Vester U, Gadner B, van Husen M, Moritz ML, Würzner R, Jungraithmayr T; German-Austrian HUS Study Group. Hofer J, et al. Among authors: janecke ar. Clin J Am Soc Nephrol. 2013 Mar;8(3):407-15. doi: 10.2215/CJN.01260212. Epub 2012 Dec 14. Clin J Am Soc Nephrol. 2013. PMID: 23243267 Free PMC article.
Eculizumab for atypical hemolytic-uremic syndrome.
Nürnberger J, Philipp T, Witzke O, Opazo Saez A, Vester U, Baba HA, Kribben A, Zimmerhackl LB, Janecke AR, Nagel M, Kirschfink M. Nürnberger J, et al. Among authors: janecke ar. N Engl J Med. 2009 Jan 29;360(5):542-4. doi: 10.1056/NEJMc0808527. N Engl J Med. 2009. PMID: 19179328 No abstract available.
A large family with a gain-of-function mutation of complement C3 predisposing to atypical hemolytic uremic syndrome, microhematuria, hypertension and chronic renal failure.
Lhotta K, Janecke AR, Scheiring J, Petzlberger B, Giner T, Fally V, Würzner R, Zimmerhackl LB, Mayer G, Fremeaux-Bacchi V. Lhotta K, et al. Among authors: janecke ar. Clin J Am Soc Nephrol. 2009 Aug;4(8):1356-62. doi: 10.2215/CJN.06281208. Epub 2009 Jul 9. Clin J Am Soc Nephrol. 2009. PMID: 19590060 Free PMC article.
Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications.
Janecke AR, Xu R, Steichen-Gersdorf E, Waldegger S, Entenmann A, Giner T, Krainer I, Huber LA, Hess MW, Frishberg Y, Barash H, Tzur S, Schreyer-Shafir N, Sukenik-Halevy R, Zehavi T, Raas-Rothschild A, Mao C, Müller T. Janecke AR, et al. Hum Mutat. 2017 Apr;38(4):365-372. doi: 10.1002/humu.23192. Epub 2017 Mar 6. Hum Mutat. 2017. PMID: 28181337 Free PMC article.
Severe Deoxyguanosine Kinase Deficiency in Austria: A 6-Patient Series.
Waich S, Roscher A, Brunner-Krainz M, Cortina G, Köstl G, Feichtinger RG, Entenmann A, Müller T, Knisely AS, Mayr JA, Janecke AR, Vodopiutz J. Waich S, et al. Among authors: janecke ar. J Pediatr Gastroenterol Nutr. 2019 Jan;68(1):e1-e6. doi: 10.1097/MPG.0000000000002149. J Pediatr Gastroenterol Nutr. 2019. PMID: 30589726
Stereotactic radiofrequency ablation of a variety of liver masses in children.
Hetzer B, Vogel GF, Entenmann A, Heil M, Schullian P, Putzer D, Meister B, Crazzolara R, Kropshofer G, Salvador C, Straub S, Karall D, Niederwanger C, Cortina G, Janecke A, Freund-Unsinn K, Maurer K, Schweigmann G, Oberhuber G, Renz O, Schneeberger S, Müller T, Bale R. Hetzer B, et al. Int J Hyperthermia. 2020;37(1):1074-1081. doi: 10.1080/02656736.2020.1822549. Int J Hyperthermia. 2020. PMID: 32954876 Free article.
Filaggrin mutations p.R501X and c.2282del4 in ichthyosis vulgaris.
Gruber R, Janecke AR, Fauth C, Utermann G, Fritsch PO, Schmuth M. Gruber R, et al. Among authors: janecke ar. Eur J Hum Genet. 2007 Feb;15(2):179-84. doi: 10.1038/sj.ejhg.5201742. Epub 2006 Dec 13. Eur J Hum Genet. 2007. PMID: 17164798
186 results