 | Up a level |
Vavassori, Stefano; Chou, Janet; Faletti, Laura Eva; Haunerdinger, Veronika; Opitz, Lennart; Joset, Pascal; Fraser, Christopher J; Prader, Seraina; Gao, Xianfei; Schuch, Luise A; Wagner, Matias; Hoefele, Julia; Maccari, Maria Elena; Zhu, Ying; Elakis, George; Gabbett, Michael T; Forstner, Maria; Omran, Heymut; Kaiser, Thomas; Kessler, Christina; ... (2021). Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency. Journal of allergy and clinical immunology, 148(2), pp. 381-393. Elsevier 10.1016/j.jaci.2021.03.045
Zaucke, Frank; Boehnlein, Joana M; Steffens, Sarah; Polishchuk, Roman S; Rampoldi, Luca; Fischer, Andreas; Pasch, Andreas; Boehm, Christoph W A; Baasner, Anne; Attanasio, Massimo; Hoppe, Bernd; Hopfer, Helmut; Beck, Bodo B; Sayer, John A; Hildebrandt, Friedhelm; Wolf, Matthias T F (2010). Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression. Human molecular genetics, 19(10), pp. 1985-97. Oxford: Oxford University Press 10.1093/hmg/ddq077
Ashraf, Shazia; Hoskins, Bethan E; Chaib, Hassan; Hoefele, Julia; Pasch, Andreas; Saisawat, Pawaree; Trefz, Friedrich; Hacker, Hans W; Nuernberg, Gudrun; Nuernberg, Peter; Otto, Edgar A; Hildebrandt, Friedhelm (2010). Mapping of a new locus for congenital anomalies of the kidney and urinary tract on chromosome 8q24. Nephrology, dialysis, transplantation, 25(5), pp. 1496-501. Oxford: Oxford University Press 10.1093/ndt/gfp650
Hoefele, Julia; Wolf, Matthias T F; O'Toole, John F; Otto, Edgar A; Schultheiss, Ulla; Dêschenes, Georges; Attanasio, Massimo; Utsch, Boris; Antignac, Corinne; Hildebrandt, Friedhelm (2007). Evidence of oligogenic inheritance in nephronophthisis. Journal of the American Society of Nephrology, 18(10), pp. 2789-95. Hagerstown, Md.: Lippincott Williams & Wilkins 10.1681/ASN.2007020243
Helou, Juliana; Otto, Edgar A; Attanasio, Massimo; Allen, Susan J; Parisi, Melissa A; Glass, Ian; Utsch, Boris; Hashmi, Seema; Fazzi, Elisa; Omran, Heymut; O'Toole, John F; Sayer, John A; Hildebrandt, Friedhelm (2007). Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome. Journal of medical genetics, 44(10), pp. 657-63. London: BMJ Publishing Group 10.1136/jmg.2007.052027
