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Prof. Dr. med. Stefanie Weber

Funktionen

  • Facharzt/-ärztin, Zentrum für Kinder- und Jugendmedizin

Aktuelle Veranstaltungen

Keine aktuellen Veranstaltungen.

Vergangene Veranstaltungen (max. 10)

Keine vergangenen Veranstaltungen.

Die folgenden Publikationen sind in der Online-Universitätsbibliographie der Universität Duisburg-Essen verzeichnet. Weitere Informationen finden Sie gegebenenfalls auch auf den persönlichen Webseiten der Person.

    Artikel in Zeitschriften

  • Schild, Raphael; Carvajal Abreu, Karla; Büscher, Anja; Kanzelmeyer, Nele; Lezius, Susanne; Krupka, Kai; Weitz, Marcus; Prytula, Agnieszka; Printza, Nikoleta; Berta, László; Saygili, Seha Kamil; Sellier-Leclerc, Anne-Laure; Spartà, Giuseppina; Marks, Stephen D.; Kemper, Markus J.; König, Sabine; Topaloglu, Rezan; Müller, Dominik; Klaus, Günter; Weber, Stefanie; Oh, Jun; Herden, Uta; Carraro, Andrea; Dello Strologo, Luca; Ariceta, Gema; Hoyer, Peter; Tönshoff, Burkhard; Pape, Lars
    Favorable Outcome after Single-kidney Transplantation from Small Donors in Children: A Match-controlled CERTAIN Registry Study
    In: Transplantation Jg. 108 (2024) Nr. 8, S. 1793 - 1801
    Online Volltext: dx.doi.org/
  • Prytula, Agnieszka; Shroff, Rukshana; Krupka, Kai; Deschepper, Ellen; Bacchetta, Justine; Ariceta, Gema; Awan, Atif; Benetti, Elisa; Büscher (A.), Anja; Berta, László; Carraro, Andrea; Christian, Martin; Dello Strologo, Luca; Doerry, Katja; Haumann, Sophie; Klaus, Guenter; Kempf, Caroline; Kranz, Birgitta; Oh, Jun; Pape, Lars; Pohl, Martin; Printza, Nikoleta; Rubik, Jacek; Schmitt, Claus Peter; Shenoy, Mohan; Spartà, Giuseppina; Staude, Hagen; Sweeney, Clodagh; Weber, Lutz; Weber, Stefanie; Weitz, Marcus; Haffner, Dieter; Tönshoff, Burkhard
    Hyperparathyroidism Is an Independent Risk Factor for Allograft Dysfunction in Pediatric Kidney Transplantation
    In: Kidney International Reports Jg. 8 (2023) Nr. 1, S. 81 - 90
    Online Volltext: dx.doi.org/ (Open Access)
  • Jeruschke, Stefanie; Alex, Dana; Hoyer, Peter Friedrich; Weber, Stefanie
    Protective effects of rituximab on puromycin-induced apoptosis, loss of adhesion and cytoskeletal alterations in human podocytes
    In: Scientific Reports Jg. 12 (2022) Nr. 1, 12297
    Online Volltext: dx.doi.org/ (Open Access)
  • König, Jens Christian; Karsay, Rebeka; Gerß, Joachim; Schlingmann, Karl-Peter; Telgmann, Anna-Katharina; Ariceta, Gema; Gillion, Valentine; Bockenhauer, Detlef; Bertholet-Thomas, Aurélia; Mastrangelo, Antonio; Boyer, Olivia; Lilien, Marc; Decramer, Stéphane; Schanstra, Joost. P.; Pohl, Martin; Schild, Raphael; Weber, Stefanie; Hoefele, Julia; Cetiner, Metin; Hansen, Matthias; Thumfart, Julia; Tönshoff, Burkhard; Habbig, Sandra; Liebau, Max Christoph; Bald, Martin; Bergmann, Carsten; Pennekamp, Petra; Konrad, Martin; Antczak, P.; Birtel, J.; Bergmann, C.; Cetiner, Metin; Dahmer-Heath, M.; Dahmer-Heath, M.; Drube, J.; Drube, J.; Gerß, J.; Haffner, D.; Illig, T.; Kamp-Becker, I.; Klopp, N.; Kollmann, S.; Kollmann, S.; König, J.; Konrad, M.; Liebau, M.C.; Nittel, C.; Okorn, C.; Omran, H.; Pape, L.; Pennekamp, P.; Schäfer, F.; Schermer, B.; Storf, H.; Vasseur, J.; Weber, S.; Wohlgemuth, K.; Ziegler, W.; Gimpel, C.; Göbel, J.; Schlevogt, B.
    Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis
    In: Kidney International Reports Jg. 7 (2022) Nr. 9, S. 2016 - 2028
    Online Volltext: dx.doi.org/ (Open Access)
  • Günthner, Roman; Knipping, Lea; Jeruschke, Stefanie; Satanoskij, Robin; Lorenz-Depiereux, Bettina; Hemmer, Clara; Braunisch, Matthias C.; Riedhammer, Korbinian M.; Ćomić, Jasmina; Tönshoff, Burkhard; Tasic, Velibor; Abazi-Emini, Nora; Nushi-Stavileci, Valbona; Buiting, Karin; Gjorgjievski, Nikola; Momirovska, Ana; Patzer, Ludwig; Kirschstein, Martin; Gross, Oliver; Lungu, Adrian; Weber, Stefanie; Renders, Lutz; Heemann, Uwe; Meitinger, Thomas; Büscher, Anja; Hoefele, Julia
    Renal X-inactivation in female individuals with X-linked Alport syndrome primarily determined by age
    In: Frontiers in Medicine Jg. 9 (2022) 953643
    Online Volltext: dx.doi.org/ (Open Access)
  • Okorn, Christine; Goertz, Anne; Vester, Udo; Beck, Bodo B.; Bergmann, Carsten; Habbig, Sandra; König, Jens; Konrad, Martin; Müller, Dominik; Oh, Jun; Ortiz-Brüchle, Nadina; Patzer, Ludwig; Schild, Raphael; Seeman, Tomas; Staude, Hagen; Thumfart, Julia; Tönshoff, Burkhard; Walden, Ulrike; Weber, Lutz; Zaniew, Marcin; Zappel, Hildegard; Hoyer, Peter Friedrich; Weber, Stefanie
    HNF1B nephropathy has a slow-progressive phenotype in childhood—with the exception of very early onset cases : results of the German Multicenter HNF1B Childhood Registry
    In: Pediatric Nephrology Jg. 34 (2019) Nr. 6, S. 1065 - 1075
    Online Volltext: dx.doi.org/ (Open Access)
  • Büscher (A.), Anja; Celebi, Nora; Hoyer, Peter Friedrich; Klein, Hanns-Georg; Weber, Stefanie; Hoefele, Julia
    Mutations in INF2 may be associated with renal histology other than focal segmental glomerulosclerosis
    In: Pediatric Nephrology Jg. 33 (2018) Nr. 3, S. 433 - 437
    Online Volltext: dx.doi.org/
  • Gimpel, Charlotte; Avni, Fred E.; Bergmann, Carsten; Cetiner, Metin; Habbig, Sandra; Haffner, Dieter; König, Jens; Konrad, Martin; Liebau, Max C.; Pape, Lars; Rellensmann, Georg; Titieni, Andrea; Kaisenberg, Constantin von; Weber, Stefanie; Winyard, Paul J. D.; Schaefer, Franz
    Perinatal diagnosis, management, and follow-up of cystic renal diseases : a clinical practice recommendation with systematic literature reviews
    In: JAMA Pediatrics Jg. 172 (2018) Nr. 1, S. 74 - 86
    Online Volltext: dx.doi.org/
  • Büscher, Anja K.; Weber, Stefanie
    Fortschritte auf dem Gebiet der Genetik der Glomerulopathien
    In: Der Nephrologe Jg. 12 (2017) Nr. 4, S. 241 - 247
    Online Volltext: dx.doi.org/
  • Beckmann, Nadine; Becker, Katrin Anne; Walter, Silke; Becker, Jan U.; Kramer, Melanie; Hessler, Gabriele; Weber, Stefanie; Göthert, Joachim Rudolf; Fassbender, Klaus; Gulbins, Erich; Carpinteiro, Alexander
    Regulation of Arthritis Severity by the Acid Sphingomyelinase
    In: Cellular Physiology and Biochemistry Jg. 43 (2017) Nr. 4, S. 1460 - 1471
    Online Volltext: dx.doi.org/ (Open Access)
  • Weber, Stefanie; Büscher (A.), Anja; Hagmann, Henning; Liebau, Max C.; Heberle, Christian; Ludwig, Michael; Rath, Sabine; Alberer, Martin; Beissert, Antje; Zenker, Martin; Hoyer, Peter Friedrich; Konrad, Martin; Klein, Hanns-Georg; Hoefele, Julia
    Dealing with the incidental finding of secondary variants by the example of SRNS patients undergoing targeted next-generation sequencing
    In: Pediatric Nephrology Jg. 31 (2016) Nr. 1, S. 73 - 81
    Online Volltext: dx.doi.org/
  • Weber, Stefanie; Strasser, Katja; Rath, Sabine; Kittke, Achim; Beicht, Sonja; Alberer, Martin; Lange-Sperandio, Bärbel; Hoyer, Peter Friedrich; Benz, Marcus R; Ponsel, Sabine; Weber, Lutz T; Klein, Hanns-Georg; Hoefele, Julia
    Identification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathy
    In: Pediatric Nephrology Jg. 31 (2016) Nr. 6, S. 941 - 955
    Online Volltext: dx.doi.org/
  • Büscher (A.), Anja; Beck, Bodo B.; Melk, Anette; Hoefele, Julia; Kranz, Annett Birgitta; Bamborschke, Daniel; Baig, Sabrina; Lange-Sperandio, Bärbel; Jungraithmayr, Theresa; Weber, Lutz T.; Kemper, Markus J.; Tönshoff, Burkhard; Hoyer, Peter Friedrich; Konrad, Martin; Weber, Stefanie
    Rapid response to cyclosporin a and favorable renal outcome in nongenetic versus genetic steroid–resistant nephrotic syndrome
    In: Clinical Journal of the American Society of Nephrology Jg. 11 (2016) Nr. 2, S. 245 - 253
    Online Volltext: dx.doi.org/ (Open Access)
  • Riehle, Marc; Büscher (A.), Anja; Gohlke, Björn-Oliver; Kaßmann, Mario; Kolatsi-Joannou, Maria; Bräsen, Jan H; Nagel, Mato; Becker, Jan U; Winyard, Paul; Hoyer, Peter Friedrich; Preissner, Robert; Krautwurst, Dietmar; Gollasch, Maik; Weber, Stefanie; Harteneck, Christian
    TRPC6 G757D Loss-of-Function Mutation Associates with FSGS
    In: Journal of the American Society of Nephrology (JASN) Jg. 27 (2016) Nr. 9, S. 2771 - 2783
    Online Volltext: dx.doi.org/ (Open Access)
  • John, U.; Mentzel, H.-J.; Weber, Stefanie
    Diagnostik angeborener Harntransportstörungen : Neues und Bewährtes
    In: Monatsschrift Kinderheilkunde Jg. 163 (2015) Nr. 4, S. 331 - 342
    Online Volltext: dx.doi.org/
  • Weber, Stefanie
    Erhöhtes Risiko einer terminalen Niereninsuffizienz bei Verwandten ersten Grades mit Nierenersatztherapie
    In: Der Nephrologe Jg. 10 (2015) Nr. 1, S. 51 - 52
    Online Volltext: dx.doi.org/
  • Weber, Stefanie
    Erhöhtes Risiko einer terminalen Niereninsuffizienz bei verwandten ersten Grades mit Nierenersatztherapie
    In: Der Urologe Jg. 54 (2015) Nr. 4, S. 553 - 554
    Online Volltext: dx.doi.org/
  • Jeruschke, Stefanie; Jeruschke, Kay; DiStasio, Andrew; Karaterzi, Sinem; Büscher (A.), Anja; Nalbant, Perihan; Klein-Hitpaß, Ludger; Hoyer, Peter Friedrich; Weiss, Jürgen; Stottmann, Rolf W; Weber, Stefanie
    Everolimus Stabilizes Podocyte Microtubules via Enhancing TUBB2B and DCDC2 Expression
    In: PLoS ONE Jg. 10 (2015) Nr. 9, S. e0137043
    Online Volltext: dx.doi.org/ (Open Access)
  • Stuart, Helen M; Roberts, Neil A; Hilton, Emma N; McKenzie, Edward A; Daly, Sarah B; Hadfield, Kristen D; Rahal, Jeffery S; Gardiner, Natalie J; Tanley, Simon W; Lewis, Malcolm A; Sites, Emily; Angle, Brad; Alves, Cláudia; Lourenço, Teresa; Rodrigues, Márcia; Calado, Angelina; Amado, Marta; Guerreiro, Nancy; Serras, Inês; Beetz, Christian; Varga, Rita-Eva; Silay, Mesrur Selcuk; Darlow, John M; Dobson, Mark G; Barton, David E; Hunziker, Manuela; Puri, Prem; Feather, Sally A; Goodship, Judith A; Goodship, Timothy H J; Lambert, Heather J; Cordell, Heather J; UK VUR Study Group; Saggar, Anand; Kinali, Maria; 4C Study Group; Lorenz, Christian; Moeller, Kristina; Schaefer, Franz; Bayazit, Aysun K; Weber, Stefanie; Newman, William G; Woolf, Adrian S
    Urinary Tract Effects of HPSE2 Mutations
    In: Journal of the American Society of Nephrology (JASN) Jg. 26 (2015) Nr. 4, S. 797 - 804
    Online Volltext: dx.doi.org/ (Open Access)
  • Saraga, Marijan; Vukojevic, Katarina; Krzelj, Vjekoslav; Puretic, Zvonimir; Bocina, Ivana; Durdov, Merica Glavina; Weber, Stefanie; Dworniczak, Bernd; Ljubanovic, Danica Galesic; Saraga-Babic, Mirna
    Mechanism of cystogenesis in nephrotic kidneys : a histopathological study
    In: BMC Nephrology Jg. 15 (2014) S. 3
    Online Volltext: dx.doi.org/ (Open Access)
  • Gee, Heon Yung; Otto, Edgar A; Hurd, Toby W; Ashraf, Shazia; Chaki, Moumita; Cluckey, Andrew; Vega-Warner, Virginia; Saisawat, Pawaree; Diaz, Katrina A; Fang, Humphrey; Kohl, Stefan; Allen, Susan J; Airik, Rannar; Zhou, Weibin; Ramaswami, Gokul; Janssen, Sabine; Fu, Clementine; Innis, Jamie L; Weber, Stefanie; Vester, Udo; Davis, Erica E; Katsanis, Nicholas; Fathy, Hanan M; Jeck, Nikola; Klaus, Gunther; Nayir, Ahmet; Rahim, Khawla A; Attrach, Ibrahim Al; Hassoun, Ibrahim Al; Ozturk, Savas; Drozdz, Dorota; Helmchen, Udo; O'toole, John F; Attanasio, Massimo; Lewis, Richard A; Nürnberg, Gudrun; Nürnberg, Peter; Washburn, Joseph; Macdonald, James; Innis, Jeffrey W; Levy, Shawn; Hildebrandt, Friedhelm
    Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies
    In: Kidney International Jg. 85 (2014) Nr. 4, S. 880 - 887
    Online Volltext: dx.doi.org/ Online Volltext (Open Access)
  • Büscher (R.), Rainer; Büscher (A.), Anja; Weber, Stefanie; Mohr, Julia; Hegen, Bianca; Vester, Udo; Hoyer, Peter Friedrich
    Clinical manifestations of autosomal recessive polycystic kidney disease (ARPKD) : kidney-related and non-kidney-related phenotypes
    In: Pediatric Nephrology Jg. 29 (2013) Nr. 10, S. 1915 - 1925
    Online Volltext: dx.doi.org/
  • Jeruschke, S.; Büscher (A.), Anja; Rekasi, H.; Karaterzi, S.; Saleem, M. A.; Oh, J.; Hoyer, Peter Friedrich; Nalbant, Perihan; Weber, Stefanie
    Differential expression of cytoskeletal-associated genes in human podocytes by the mTOR inhibitor everolimus
    In: Pediatric Nephrology Jg. 28 (2013) Nr. 8, S. 1438 - 1438
  • Schild, Raphael; Knüppel, Tanja; Konrad, Martin; Bergmann, Carsten; Trautmann, Agnes; Kemper, Markus J.; Wu, Kongming; Yaklichkin, Sergey; Wang, Jing; Pestell, Richard; Müller-Wiefel, Dirk E.; Schaefer, Franz; Weber, Stefanie
    Double homozygous missense mutations in DACH1 and BMP4 in a patient with bilateral cystic renal dysplasia
    In: Nephrology Dialysis Transplantation (NDT) Jg. 28 (2013) Nr. 1, S. 227 - 232
    Online Volltext: dx.doi.org/
  • Hoefele, J.; Büscher (A.), Anja; Hagmann, H.; Liebau, M. C.; Ludwig, M.; Beissert, A.; Hoyer, Peter Friedrich; Konrad, M.; Klein, H. G.; Weber, Stefanie
    Evidence for modifier genes in children with steroid resistant nephrotic syndrome
    In: Pediatric Nephrology Jg. 28 (2013) Nr. 8, S. 1452 - 1452
  • Goethert, JoachimRud; Eisele, Lewin; Klein-Hitpaß, Ludger; Weber, Stefanie; Zesewitz, Marie-Loui; Sellmann, Ludger; Röth, Alexander; Pircher, Hanspeter; Dührsen, Ulrich; Dürig, Jan
    Expanded CD8+ T cells of murine and human CLL are driven into a senescent KLRG1(+) effector memory phenotype
    In: Cancer Immunology, Immunotherapy Jg. 62 (2013) Nr. 11, S. 1697 - 1709
    Online Volltext: dx.doi.org/
  • Weber, Stefanie; Sprüssel, A.; Schulte, Johannes; Gollner, S.; Handschke, K.; Müller-Tidow, C.; Eggert, Angelika; Dührsen, Ulrich; Göthert, Joachim Rudolf
    Knock-down of lysine specific demethylase-1 drives hematopoietic stem cells into a CD41+myeloid biased phenotype
    In: Onkologie Jg. 36 (2013) Nr. Suppl. 7, S. 228 - 228
  • Büscher, Anja Katrin; Konrad, Martin A.; Nagel, Mato; Witzke, Oliver; Kribben, Andreas; Hoyer, Peter Friedrich; Weber, Stefanie
    Mutationen in podozytären Genen sind eine seltene Ursache der primären, mit terminaler Niereninsuffizienz assoziierten fokal-segmentalen Glomerulosklerose beim Erwachsenen
    In: Nieren- und Hochdruckkrankheiten Jg. 42 (2013) Nr. 5, S. 212 - 219
    Online Volltext: dx.doi.org/
  • Jeruschke, Stefanie; Büscher, Anja Katrin; Oh, Jun; Saleem, Moin Ahson; Hoyer, Peter Friedrich; Weber, Stefanie; Nalbant, Perihan
    Protective effects of the mTOR inhibitor everolimus on cytoskeletal injury in human podocytes are mediated by RhoA signaling
    In: PLoS ONE Jg. 8 (2013) Nr. 2, S. e55980
    Online Volltext: dx.doi.org/ Online Volltext (Open Access)
  • Tabatabaeifar, M.; Simic, I.; Wlodkowski, T.; Denc, H.; Mollet, G.; Weber, Stefanie; Antignac, C.; Schaefer, F.
    RAS Blockade is Nephroprotective in a Mouse Model of Podocin Related Nephrotic Syndrome
    In: Pediatric Nephrology Jg. 28 (2013) Nr. 8, S. 1353 - 1353
  • Vester, Udo; Kranz, Annett Birgitta; Engelke, G.; Weber, Stefanie; Hoyer, Peter Friedrich
    Seminal vesicle cysts and ipsilateral malformation of the kidney (Zinner's syndrome)
    In: Pediatric Nephrology Jg. 28 (2013) Nr. 8, S. 1403 - 1404
  • Brockschmidt, A.; Chung, B.; Weber, Stefanie; Fischer, D. C.; Kolatsi-Joannou, M.; Christ, L.; Heimbach, A.; Shtiza, D.; Klaus, G.; Simonetti, G. D.; Konrad, M.; Winyard, P.; Haffner, D.; Schaefer, F.; Weber, R. G.
    CHD1L : a new candidate gene for congenital anomalies of the kidneys and urinary tract (CAKUT)
    In: Nephrology Dialysis Transplantation Jg. 27 (2012) Nr. 6, S. 2355 - 2364
    Online Volltext: dx.doi.org/
  • Strasser, Katja; Hoefele, Julia; Bergmann, Carsten; Büscher (A.), Anja; Büscher (R.), Rainer; Hoyer, Peter Friedrich; Weber, Stefanie
    COL4A5-associated X-linked Alport syndrome in a female patient with early inner ear deafness due to a mutation in MYH9
    In: Nephrology Dialysis Transplantation (NDT) Jg. 27 (2012) Nr. 11, S. 4236 - 4240
    Online Volltext: dx.doi.org/
  • Schlingmann, K. P.; Kaufmann, M.; Weber, Stefanie
    Correction to "Nephrocalcinosis and urolithiasis in children"
    In: Kidney International Jg. 82 (2012) Nr. 4, S. 493 - 497
    Online Volltext: dx.doi.org/
  • Büscher (A.), Anja; Weber, Stefanie
    Educational paper : The podocytopathies
    In: European Journal of Pediatrics Jg. 171 (2012) Nr. 8, S. 1151 - 1160
    Online Volltext: dx.doi.org/
  • Hoyer, Peter Friedrich; Weber, Stefanie
    Erratum zu: Hereditäre Nierenerkrankungen
    In: Der Nephrologe Jg. 7 (2012) Nr. 5, S. 433 - 434
    Online Volltext: dx.doi.org/
  • Hollenbeck, A.; Handschke, K.; Weber, Stefanie; Necke, M.; Opalka, Bertram; Dührsen, Ulrich; Göthert, Joachim Rudolf
    Genetic modification of the oxygen-sensing pathway alters the develoment of early thymic progenitors
    In: Experimental Hematology Jg. 40 (2012) Nr. 8, Suppl. 1, S. 21 - 22
  • Von Hoyer, P.F.; Weber, Stefanie
    Hereditäre Nierenerkrankungen
    In: Der Nephrologe Jg. 7 (2012) Nr. 4, S. 339 - 355
    Online Volltext: dx.doi.org/
  • Sprüssel, Annika; Schulte, Johannes; Weber, Stefanie; Necke, M.; Händschke, K.; Thor, Theresa; Pajtler, Kristian; Schramm, Alexander; König, Katharina; Diehl, Linda; Mestdagh, Pieter; Vandesompele, Jo; Speleman, Frank P.; Jastrow, Holger; Heukamp, Lukas Carl; Schüle, Roland; Dührsen, Ulrich; Buettner, Reinhard H.; Eggert, Angelika; Göthert, Joachim Rudolf
    Lysine-specific demethylase 1 restricts hematopoietic progenitor proliferation and is essential for terminal differentiation
    In: Leukemia Jg. 26 (2012) Nr. 9, S. 2039 - 2051
    Online Volltext: dx.doi.org/
  • Weber, Stefanie; Thiele, H.; Mir, S.; Toliat, M. R.; Sozeri, B.; Reutter, H.; Draaken, M.; Ludwig, M.; Frommolt, P.; Stuart, H. M.; Schlingmann, K. P.; Newmann, W.; Beetz, R.; Hoyer, Peter Friedrich; Konrad, M.; Schaefer, F.; Nurnberg, P.; Woolf, A. S.
    Muscarinic acetylcholine receptor M3 (CHRM3) mutation causes congenital bladder disease and a prune-belly-like syndrome
    In: Pediatric Nephrology Jg. 27 (2012) Nr. 9, S. 1624
  • Harteneck, C.; Weber, Stefanie; Buscher, A.; Riehle, M.; Hoyer, Peter Friedrich; Jeruschke, S.; Kolatsie, M.; Nagel, M.; Winyard, P.; Gollasch, M.
    Mutations in TRPC6 ion channels in patients suffering from familial focal segmental glomerolusclerosis
    In: Naunyn-Schmiedeberg's Archives of Pharmacology Jg. 385 (2012) Nr. Suppl. 1, S. 34 - 34
  • Büscher, Anja K.; Konrad, Martin; Nagel, Mato; Witzke, Oliver; Kribben, Andreas; Hoyer, Peter Friedrich; Weber, Stefanie
    Mutations in podocyte genes are a rare cause of primary FSGS associated with ESRD in adult patients
    In: Clinical Nephrology Jg. 78 (2012) Nr. 1, S. 47 - 53
    Online Volltext: dx.doi.org/
  • Hoefele, Julia; Büscher (A.), Anja; Heberle, Christian; Konrad, Martin; Klein, Hanns-Geor; Weber, Stefanie
    Nephrotic syndrome : Next Generation Sequencing (NGS) as a new diagnostic tool
    In: Pediatric Nephrology Jg. 27 (2012) Nr. 9, S. 1717 - 1717
  • Weber, Stefanie
    Novel genetic aspects of congenital anomalies of kidney and urinary tract
    In: Current Opinion in Pediatrics Jg. 24 (2012) Nr. 2,
    Online Volltext: dx.doi.org/
  • Thomas, S.; Pütter, Carolin; Weber, Stefanie; Bornfeld, Norbert; Lohmann, Dietmar; Zeschnigk, Michael
    Prognostic significance of chromosome 3 alterations determined by microsatellite analysis in uveal melanoma : a long-term follow-up study
    In: British Journal of Cancer (BJC) Jg. 106 (2012) Nr. 6, S. 1171 - 1176
    Online Volltext: dx.doi.org/
  • Jeruschke, Stefanie; Büscher (A.), Anja; Saleem, Moin; Hoyer, Peter Friedrich; Oh, Jun; Nalbant, Perihan; Weber, Stefanie
    Protective effects of everolimus on puromycin-induced cytoskeletal alterations in human podocytes are mediated by RhoA-signalling
    In: Pediatric Nephrology Jg. 27 (2012) Nr. 9, S. 1638 - 1638
  • Weber, Stefanie
    Fortschritte und Trends in der Kindernephrologie : die molekularen Ursachen von Harntraktfehlbildungen
    In: Nieren- und Hochdruckkrankheiten Jg. 40 (2011) Nr. 7, S. 291 - 297
    Online Volltext: dx.doi.org/
  • Weber, Stefanie; Landwehr, C.; Renkert, M.; Hoischen, A.; Wühl, E.; Denecke, J.; Radlwimmer, B.; Haffner, D.; Schaefer, F.; Weber, R. G.
    Mapping candidate regions and genes for congenital anomalies of the kidneys and urinary tract (CAKUT) by array-based comparative genomic hybridization
    In: Nephrology Dialysis Transplantation (NDT) Jg. 26 (2011) Nr. 1, S. 136 - 143
  • Weber, Stefanie; Thiele, Holger; Mir, Sevgi; Toliat, Mohammad Reza; Sozeri, Betül; Reutter, Heiko; Draaken, Markus; Ludwig, Michael; Altmüller, Janine; Frommolt, Peter; Stuart, Helen M.; Ranjzad, Parisa; Hanley, Neil A.; Jennings, Rachel; Newman, William G.; Wilcox, Duncan T.; Thiel, Uwe; Schlingmann, Karl Peter; Beetz, Rolf; Hoyer, Peter F.; Konrad, Martin; Schaefer, Franz; Nürnberg, Peter; Woolf, Adrian S.; Toliat, Mohammad Reza; Stuart, Helen M.; Hanley, Neil A.; Newman, William G.; Wilcox, Duncan T.; Schlingmann, Karl Peter; Hoyer, Peter F.; Woolf, Adrian S.
    Muscarinic acetylcholine receptor m3 mutation causes urinary bladder disease and a prune-belly-like syndrome
    In: The American Journal of Human Genetics Jg. 89 (2011) Nr. 5, S. 668 - 674
    Online Volltext: dx.doi.org/ (Open Access)
  • Schlingmann, Karl P.; Kaufmann, Martin; Weber, Stefanie; Irwin, Andrew; Goos, Caroline; John, Ulrike; Misselwitz, Joachim; Klaus, Günter; Kuwertz-Bröking, Eberhard; Fehrenbach, Henry; Wingen, Anne M.; Güran, Tülay; Hoenderop, Joost G.; Bindels, René J.; Prosser, David E.; Jones, Glenville; Konrad, Martin
    Mutations in CYP24A1 and idiopathic infantile hypercalcemia
    In: The New England Journal of Medicine Jg. 365 (2011) Nr. 5, S. 410 - 421
    Online Volltext: dx.doi.org/
  • Hoefele, J.; Weber, Stefanie; Rath, S.; Rost, I.; Klein, H. G.
    Novel mutations in patients with alport syndrome
    In: Pediatric Nephrology Jg. 26 (2011) Nr. 9, S. 1604 - 1604
  • Renkema, Kirsten; Winyard, Paul J.; Skovorodkin, Ilya N.; Weber, Stefanie; et.al.
    Novel perspectives for investigating congenital anomalies of the kidney and urinary tract (CAKUT)
    In: Nephrology Dialysis Transplantation (NDT) Jg. 26 (2011) Nr. 12, S. 3843 - 3851
    Online Volltext: dx.doi.org/
  • Jungraithmayr, Therese C.; Hofer, Katrin; Cochatt, Pierre; Chemin, Gil; Cortina, Gerard; Fargue, Sonja; Grimm, Paul; Knueppel, Tanja; Kowarsch, Andreas; Neuhaus, Thomas; Pagel, Philipp; Pfeiffer, Karl P.; Schaefer, Franz; Schoenermarck, Ulf; Seeman, Tomas; Toenshoff, Burkhard; Weber, Stefanie; Winn, Michelle P.; Zschocke, Johannes; Zimmerhackl, Lothar B.
    Screening for NPHS2 Mutations May Help Predict FSGS Recurrence after Transplantation
    In: Journal of the American Society of Nephrology (JASN) Jg. 22 (2011) Nr. 3, S. 579 - 585
    Online Volltext: dx.doi.org/ (Open Access)
  • Weber, Stefanie
    Genetische Aspekte konnataler Uropathien
    In: Monatsschrift Kinderheilkunde Jg. 158 (2010) Nr. 12, S. 1209 - 1216
    Online Volltext: dx.doi.org/
  • Büscher (A.), Anja; Kranz, Annett Birgitta; Büscher (R.), Rainer; Hildebrandt, Friedhelm; Dworniczak, Bernd; Pennekamp, Petra; Kuwertz-Bröking, Eberhard; Wingen, Anne-Margret; John, Ulrike; Kemper, Markus; Monnens, Leo; Hoyer, Peter Friedrich; Weber, Stefanie; Konrad, Martin
    Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome
    In: Clinical Journal of the American Society of Nephrology Jg. 5 (2010) Nr. 11, S. 2075 - 2084
    Online Volltext: dx.doi.org/
  • Schüler, Andreas; Weber, Stefanie; Neuhäuser, Markus; Jurklies, Christine; Lehnert, T.; Heimann, H.; Rudolph, G.; Jöckel, Karl-Heinz; Bornfeld, Norbert; Lohmann, Dietmar
    Age at diagnosis of isolated unilateral retinoblastoma does not distinguish patients with and without a constitutional RB1 gene mutation but is influenced by a parent-of-origin effect
    In: European Journal of Cancer Jg. 41 (2005) Nr. 5, S. 735 - 740
    Online Volltext: dx.doi.org/
  • Weber, Stefanie; Leuschner, Prisca; Kämpfer, Peter; Dott, Wolfgang; Hollender, Juliane
    Degradation of estradiol and ethinyl estradiol by activated sludge and by a defined mixed culture
    In: Applied Microbiology and Biotechnology Jg. 67 (2005) Nr. 1, S. 106 - 112
    Online Volltext: dx.doi.org/

    • Abstracts

  • Riedhammer, Korbinian M.; Richthammer, Patrick; Westphal, Dominik S.; Comic, Jasmina; Günthner, Roman; Braunisch, Matthias C.; Rath, Sabine; Büscher, Anja; Klein, Hanns-Georg; Weber, Stefanie; Höfele, Julia
    Systematic variant reinterpretation in patients with type-IV-collagen-related nephropathy (Alport syndrome/thin basement membrane nephropathy) reveals a high rate of ambiguous results
    In: European Journal of Human Genetics Jg. 30 (2022) Nr. Suppl. 1, S. 142
  • Hollenbeck, Anita; Handschke, Kathrin; Necke, Mandy; Weber, Stefanie; Opalka, Bertram; Dührsen, Ulrich; Göthert, Joachim Rudolf
    Mice with thymic epithelial deletion of the von Hippel-Lindau gene are lacking a functioning thymus
    In: Onkologie Jg. 36 (2013) Nr. Suppl. 7, S. 276
  • Handschke, Kathrin; Weber, Stefanie; Necke, Mandy; Hollenbeck, Anita; Grabellus, Florian; Dührsen, Ulrich; Opalka, Bertram; Gothert, Joachim
    Vav-iCre mediated deletion of the von hippel lindau gene does not alter the cell cycle status of hematopoietic stem cells in vivo
    In: Experimental Hematology
    New York Jg. 40 (2012) Nr. 8, Suppl. 1, S. 101
  • Händschke, K.; Weber, Stefanie; Necke, M.; Grabellus, Florian; Hollenbeck, A.; Opalka, B.; Dührsen, Ulrich; Göthert, Joachim Rudolf;
    Vav-iCre-mediated deletion of the von Hippel-Lindau gene does not alter the cell cycle status of hematopoietic stem cells in vivo
    Jahrestagung der Deutschen, Österreichischen und Schweizerischen Gesellschaften für Hämatologie und Onkologie. Basel, 30.09.–04.10. 2011,
    In: Onkologie Jg. 34 (2011) Nr. Suppl. 6, S. 292 - 293
    Online Volltext: dx.doi.org/
  • Gothert, J. R.; Eisele, Lewin; Klein-Hitpaß, Ludger; Weber, Stefanie; Fuhrer, A.; Sellmann, Ludger; Roth, A.; Pircher, H.; Duhrsen, U.; Dürig, Jan
    Expanded CD8(+) T-cells of murine and human B-CLL are driven into a senescent KLRG1(+) effector memory phenotype
    In: Onkologie Jg. 33 (2010) Nr. Suppl. 6, S. 201
    Online Volltext: dx.doi.org/
  • Gothert, Joachim Rudolf; Eisele, Lewin; Klein-Hitpaß, Ludger; Weber, Stefanie; Fuhrer, Anja; Sellmann, Ludger; Röth, Alexander; Dührsen, Ulrich; Pircher, Hanspeter; Dürig, Jan
    Expanded CLL CD8(+) T-Cells Are Driven Into a Senescent KLRG1(+) Effector Memory Phenotype
    In: Blood Jg. 116 (2010) Nr. 21, S. 403
  • Galow, J.; Weber, Stefanie; Handschke, K.; Necke, M.; Dührsen, U.; Opalka, B.; Gothert, J. R.
    Neither Smoothened Loss- nor Gain-of-Function in Thymic Epithelium alters normal T-Cell development
    In: Experimental Hematology Jg. 38 Suppl. (2010) Nr. 9, S. 99
    Online Volltext: dx.doi.org/
  • Gothert, J. R.; Weber, Stefanie; Duhrsen, U.; Izon, D. J.;
    Preleukemic Thymic changes induced by Aberrant SCL activation Phenocopy alterations induced by EB an E2A Loss
    ISEH 2010 Melbourne, Australia September 15-18, 2010 39th Annual Scientific Meeting of the ISEH--Society for Hematology and Stem Cells,
    In: Experimental Hematology Jg. 38 (2010) Nr. 9 Suppl. 1, S. 99
    Online Volltext: dx.doi.org/