Universität zu Köln

Journal Article

Abdel-Salam, Ghada ORCID: 0000-0003-2893-8802, Thoenes, Michaela, Afifi, Hanan H., Koerber, Friederike, Swan, Daniel ORCID: 0000-0001-8978-8129 and Bolz, Hanno Joern (2014). The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration. Orphanet J. Rare Dis., 9. LONDON: BIOMED CENTRAL LTD. ISSN 1750-1172

Antoch, Gerald, Anton, Frank, Neumann, Stefan, Knauth, Michael, Reimer, Peter, Koerber, Friederike, Wucherer, Michael, Layer, Guenter, Becker, Claus, Forsting, Michael, Heindel, Walter, Krombach, Gabriele, Loose, Reinhard, Oechtering, Thekla, Staatz, Gundula, Stroszczynski, Christian, Uder, Michael and Wujciak, Detlef (2017). The new Executive Board of the DRG was elected on 25th May 2017 at the Ordinary General Meeting in Leipzig as part of the 98th German Radiological Congress. We congratulate all new Members of the Management Board. Rofo-Fortschr. Gebiet Rontgenstrahlen Bildgeb. Verfahr., 189 (8). S. 773 - 776. STUTTGART: GEORG THIEME VERLAG KG. ISSN 1438-9010

Bamborschke, Daniel, Kreutzer, Mona, Koy, Anne, Koerber, Friederike, Lucas, Nadja, Huenseler, Christoph, Herkenrath, Peter, Lee-Kirsch, Min Ae and Cirak, Sebahattin (2021). PNPT1 mutations may cause Aicardi-Goutie` res-Syndrome. Brain Dev., 43 (2). S. 320 - 325. AMSTERDAM: ELSEVIER. ISSN 1872-7131

Bamborschke, Daniel, Pergande, Matthias, Becker, Kerstin, Koerber, Friederike, Doetsch, Joerg, Vierzig, Anne, Weber, Lutz T. and Cirak, Sebahattin (2018). A novel mutation in sphingosine-1-phosphate lyase causing congenital brain malformation. Brain Dev., 40 (6). S. 480 - 484. AMSTERDAM: ELSEVIER SCIENCE BV. ISSN 1872-7131

Beck, Bodo B., Phillips, Jennifer B., Bartram, Melte P., Wegner, Jeremy, Thoenes, Michaele, Pannes, Andrea, Sampson, Josephina, Heller, Raoul, Goebel, Heike, Koerber, Friederike, Neugebauer, Antje, Hedergott, Andrea, Nuernberg, Gudrun, Nuernberg, Peter, Thiele, Holger, Altmueller, Janine, Toliat, Mohammad R., Staubach, Simon, Boycott, Kym M., Valente, Enza Maria ORCID: 0000-0002-0600-6820, Janecke, Andreas R., Eisenberger, Tobias, Bergmann, Carsten, Tebbe, Lars, Wang, Yang, Wu, Yundong, Fry, Andrew M., Westerfield, Monte, Wolfrum, Uwe and Bolz, Hanno J. (2014). Mutation of POC1B in a Severe Syndromic Retinal Ciliopathy. Hum. Mutat., 35 (10). S. 1153 - 1163. HOBOKEN: WILEY. ISSN 1098-1004

Broekaert, Ilse Julia, Becker, Kerstin, Gottschalk, Ingo, Koerber, Friederike, Doetsch, Joerg, Thiele, Holer, Altmueller, Janine, Nuernberg, Peter, Huenseler, Christoph and Cirak, Sebahattin (2018). Mutations in plasmalemma vesicle-associated protein cause severe syndromic protein-losing enteropathy. J. Med. Genet., 55 (9). S. 637 - 641. LONDON: BMJ PUBLISHING GROUP. ISSN 1468-6244

Burgmaier, Kathrin, Kilian, Samuel, Arbeiter, Klaus, Atmis, Bahriye, Buescher, Anja, Derichs, Ute, Dursun, Ismail, Duzova, Ali, Eid, Loai Akram, Galiano, Matthias, Gessner, Michaela, Gokce, Ibrahim, Haeffner, Karsten, Hooman, Nakysa, Jankauskiene, Augustina, Koerber, Friederike, Longo, Germana, Massella, Laura, Mekahli, Djalila, Milosevski-Lomic, Gordana, Nalcacioglu, Hulya ORCID: 0000-0002-0686-9714, Rus, Rina, Shroff, Rukshana ORCID: 0000-0001-8501-1072, Stabouli, Stella, Weber, Lutz T., Wygoda, Simone, Yilmaz, Alev, Zachwieja, Katarzyna, Zagozdzon, Ilona, Doetsch, Joerg, Schaefer, Franz and Liebau, Max Christoph (2021). Early childhood height-adjusted total kidney volume as a risk marker of kidney survival in ARPKD. Sci Rep, 11 (1). BERLIN: NATURE PORTFOLIO. ISSN 2045-2322

Delle Vedove, Andrea, Natarajan, Janani, Zanni, Ginevra, Eckenweiler, Matthias, Muinos-Buehl, Anixa, Storbeck, Markus, Boixet, Jordina Guillen, Barresi, Sabina, Pizzi, Simone, Hoelker, Irmgard, Koerber, Friederike, Franzmann, Titus M., Bertini, Enrico S., Kirschner, Janbernd ORCID: 0000-0003-1618-7386, Alberti, Simon, Tartaglia, Marco and Wirth, Brunhilde ORCID: 0000-0003-4051-5191 (2022). CAPRIN1(P512L) causes aberrant protein aggregation and associates with early-onset ataxia. Cell. Mol. Life Sci., 79 (10). BASEL: SPRINGER BASEL AG. ISSN 1420-9071

Ebner, Kathrin, Dafinger, Claudia, Ortiz-Bruechle, Nadina, Koerber, Friederike, Schermer, Bernhard ORCID: 0000-0002-5194-9000, Benzing, Thomas, Doetsch, Joerg, Zerres, Klaus, Weber, Lutz Thorsten, Beck, Bodo B. and Liebau, Max Christoph ORCID: 0000-0003-0494-9080 (2017). Challenges in establishing genotype-phenotype correlations in ARPKD: case report on a toddler with two severe PKHD1 mutations. Pediatr. Nephrol., 32 (7). S. 1269 - 1274. NEW YORK: SPRINGER. ISSN 1432-198X

Ebner, Kathrin, Reintjes, Nadine, Feldkoetter, Markus, Koerber, Friederike, Nagel, Mato, Doetsch, Joeg, Hoppe, Bernd, Weber, Lutz Thorsten, Beck, Bodo B. and Liebau, Max Christoph ORCID: 0000-0003-0494-9080 (2017). A case report on the exceptional coincidence of two inherited renal disorders: ADPKD and Alport syndrome. Clin. Nephrol., 88 (1). S. 45 - 52. DEISENHOFEN-MUENCHEN: DUSTRI-VERLAG DR KARL FEISTLE. ISSN 0301-0430

Eifinger, Frank ORCID: 0000-0003-1758-6039, Scaal, Martin, Wehrle, Lukas, Maushake, Stien, Fuchs, Zeynep and Koerber, Friederike (2021). Finding alternative sites for intraosseous infusions in newborns. Resuscitation, 163. S. 57 - 64. CLARE: ELSEVIER IRELAND LTD. ISSN 1873-1570

Eifinger, Frank, Vierzig, Anne, Roth, Bernhard, Scaal, Martin and Koerber, Friederike (2016). The pericardial reflection and the tip of the central venous catheter - topographical analysis in stillborn babies. Pediatr. Radiol., 46 (11). S. 1528 - 1532. NEW YORK: SPRINGER. ISSN 1432-1998

Fazeli, Walid, Bamborschke, Daniel, Moawia, Abubakar, Bakhtiari, Somayeh, Tafakhori, Abbas, Giersdorf, Matthias, Hahn, Andreas, Weik, Anja, Kolzter, Kirsten, Shafiee, Sajad, Jin, Sheng Chih ORCID: 0000-0002-5777-7262, Koerber, Friederike, Lee-Kirsch, Min Ae, Darvish, Hossein, Cirak, Sebahattin, Kruer, Michael C. and Koy, Anne (2022). The phenotypic spectrum of PCDH12 associated disorders - Five new cases and review of the literature. Eur. J. Paediatr. Neurol., 36. S. 7 - 14. OXFORD: ELSEVIER SCI LTD. ISSN 1532-2130

Fazeli, Walid, Becker, Kerstin, Herkenrath, Peter, Duechting, Christoph, Koerber, Friederike, Landgraf, Pablo, Nuernberg, Peter, Altmueller, Janine, Thiele, Holger, Koy, Anne, Liebau, Max C., Simon, Thorsten, Doetsch, Joerg and Cirak, Sebahattin (2018). Dominant SCN2A Mutation Causes Familial Episodic Ataxia and Impairment of Speech Development. Neuropediatrics, 49 (6). S. 379 - 385. STUTTGART: GEORG THIEME VERLAG KG. ISSN 1439-1899

Feld, Katharina ORCID: 0000-0003-2699-2741, Bonni, Marcel, Koerber, Friederike, Eifinger, Frank and Banaschak, Sibylle (2020). Post-mortem estimation of gestational age and maturation of new-borns by CT examination of clavicle length, femoral length and femoral bone nuclei. Forensic Sci.Int., 314. CLARE: ELSEVIER IRELAND LTD. ISSN 1872-6283

Franke, Mareike, Baessler, Bettina ORCID: 0000-0002-3244-3864, Vechtel, Jan, Dafinger, Claudia, Hoehne, Martin, Borgal, Lori, Goebel, Heike, Koerber, Friederike, Maintz, David, Benzing, Thomas, Schermer, Bernhard ORCID: 0000-0002-5194-9000 and Persigehl, Thorsten (2017). Magnetic resonance T2 mapping and diffusion-weighted imaging for early detection of cystogenesis and response to therapy in a mouse model of polycystic kidney disease. Kidney Int., 92 (6). S. 1544 - 1555. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1523-1755

Franke, Mareike, Kramarczyk, Annette, Taylan, Christina, Maintz, David, Hoppe, Bernd and Koerber, Friederike (2014). Ultrasound-Guided Percutaneous Renal Biopsy in 295 Children and Adolescents: Role of Ultrasound and Analysis of Complications. PLoS One, 9 (12). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

Fuchs, Zeynep, Scaal, Martin, Haverkamp, Heinz ORCID: 0000-0001-6895-4132, Koerber, Friederike, Persigehl, Thorsten and Eifinger, Frank (2018). Anatomical investigations on intraosseous access in stillborns - Comparison of different devices and techniques. Resuscitation, 127. S. 79 - 83. CLARE: ELSEVIER IRELAND LTD. ISSN 0300-9572

Hoyer-Kuhn, Heike, Knoop, Kai, Semler, Oliver ORCID: 0000-0003-0029-7556, Kuhr, Kathrin, Hellmich, Martin, Schoenau, Eckhard and Koerber, Friederike (2016). Comparison of DXA Scans and Conventional X-rays for Spine Morphometry and Bone Age Determination in Children. J. Clin. Densitom., 19 (2). S. 208 - 216. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1559-0747

Hoyer-Kuhn, Heike, Netzer, Christian, Koerber, Friederike, Schoenau, Eckhard and Semler, Oliver ORCID: 0000-0003-0029-7556 (2014). Two years' experience with denosumab for children with Osteogenesis imperfecta type VI. Orphanet J. Rare Dis., 9. LONDON: BMC. ISSN 1750-1172

Jazmati, Danny, Butzer, Sarina, Hero, Barbara, Ahmad Khalil, Dalia, Merta, Julien, Baumer, Christian, Plum, Gina, Fuchs, Jorg, Koerber, Friederike, Steinmeier, Theresa, Peters, Sarah, Doyen, Jerome, Thole, Theresa, Schmidt, Matthias, Blase, Christoph, Tippelt, Stephan, Eggert, Angelika ORCID: 0000-0003-3476-8184, Schwarz, Rudolf, Simon, Thorsten ORCID: 0000-0002-3425-8451 and Timmermann, Beate (2021). Proton Beam Therapy for Children With Neuroblastoma: Experiences From the Prospective KiProReg Registry. Front. Oncol., 10. LAUSANNE: FRONTIERS MEDIA SA. ISSN 2234-943X

Jazmati, Danny, Hero, Barbara, Thole-Kliesch, Theresa M., Merta, Julien, Deubzer, Hedwig E., Baeumer, Christian, Heinzelmann, Feline, Schleithoff, Stefanie Schulze, Koerber, Friederike, Eggert, Angelika ORCID: 0000-0003-3476-8184, Schwarz, Rudolf, Simon, Thorsten ORCID: 0000-0002-3425-8451 and Timmermann, Beate (2022). Efficacy and Feasibility of Proton Beam Therapy in Relapsed High-Risk Neuroblastoma-Experiences from the Prospective KiProReg Registry. Curr. Oncol., 29 (11). S. 8222 - 8235. BASEL: MDPI. ISSN 1718-7729

Keller, Titus, Koerber, Friederike, Oberthuer, Andre, Schafmeyer, Leonie, Mehler, Katrin, Kuhr, Kathrin and Kribs, Angela (2019). Intranasal breast milk for premature infants with severe intraventricular hemorrhagean observation. Eur. J. Pediatr., 178 (2). S. 199 - 207. NEW YORK: SPRINGER. ISSN 1432-1076

Koerber, Friederike and Schaefer, Jurgen Frank (2021). Radiological imaging of neuroblastoma. Radiologe, 61 (7). S. 639 - 649. HEIDELBERG: SPRINGER HEIDELBERG. ISSN 1432-2102

Koy, Anne, Cirak, Sebahattin, Gonzalez, Victoria, Becker, Kerstin, Roujeau, Thomas, Milesi, Christophe, Baleine, Julien, Cambonie, Gilles, Boularan, Alain, Greco, Frederic, Perrigault, Pierre-Francois, Cances, Claude, Dorison, Nathalie, Doummar, Diane, Roubertie, Agathe, Beroud, Christophe, Koerber, Friederike, Stueve, Burkhard, Waltz, Stephan, Mignot, Cyril, Nava, Caroline ORCID: 0000-0003-1272-0518, Maarouf, Mohammad, Coubes, Philippe and Cif, Laura (2018). Deep brain stimulation is effective in pediatric patients with GNAO1 associated severe hyperkinesia. J. Neurol. Sci., 391. S. 31 - 40. AMSTERDAM: ELSEVIER SCIENCE BV. ISSN 1878-5883

Meeser, Alina, Beck, Bodo B., Duebbers, Martin, Habbig, Sandra, Kobe, Carsten, Koerber, Friederike, Doetsch, Joerg, Nuesken, Kai-Dietrich, Weber, Lutz T., Landgraf, Pablo, DeCarolis, Boris and Liebau, Max C. (2021). Arterial Hypertension in a 10-Year-Old Girl. Am. J. Kidney Dis., 77 (3). PHILADELPHIA: W B SAUNDERS CO-ELSEVIER INC. ISSN 1523-6838

Mentzel, Hans-Joachim, von Kalle, Thekla, Antoch, Gerald, Born, Mark, Habernig, Sandra, Hahn, Gabriele, Klee, Dirk, Koerber, Friederike, Leenen, Andreas, Riccabona, Michael, Schaefer, Juergen F. and Staatz, Gundula (2020). Challenges in Pediatric Radiology - Strategies of the board of the German speaking Society of Pediatric Radiology. Rofo-Fortschr. Gebiet Rontgenstrahlen Bildgeb. Verfahr., 192 (6). S. 531 - 537. STUTTGART: GEORG THIEME VERLAG KG. ISSN 1438-9010

Moritz, Joerg D., Franke, Doris, Koerber, Friederike and Mentzel, Hans-Joachim (2022). Standardized performance of contrast-enhanced voiding urosonography. Radiologe, 62 (2). S. 162 - 164. HEIDELBERG: SPRINGER HEIDELBERG. ISSN 1432-2102

Nuesken, Eva, Imschinetzki, Darja, Nuesken, Kai-Dietrich, Koerber, Friederike, Mentzel, Hans-Joachim, Peitz, Joachim, Bald, Martin, Buescher, Rainer, John, Ulrike, Klaus, Guenter, Konrad, Martin, Pape, Lars ORCID: 0000-0002-3635-6418, Toenshoff, Burkhard, Martin, David ORCID: 0000-0002-4279-3032, Weber, Lutz and Doetsch, Joerg (2015). Automated Greulich-Pyle bone age determination in children with chronic kidney disease. Pediatr. Nephrol., 30 (7). S. 1173 - 1180. NEW YORK: SPRINGER. ISSN 1432-198X

Oechtering, Thekla H., Panagiotopoulos, Nikolaos, Voelker, Martin, Lohwasser, Stefan, Ellmann, Stephan ORCID: 0000-0003-2737-5526, Molwitz, Isabel, Storz, Corinna ORCID: 0000-0001-5589-1849, Winther, Hinrich, Eisenblaetter, Michel, Antoch, Gerald, Schoenberg, Stefan O., Barkhausen, Joerg, Anton, Frank, Neumann, Stefan, Layer, Guenter, Doerfler, Arnd, Koerber, Friederike, Wessling, Johannes, Wucherer, Michael and Raspe, Matthias (2020). Work and Training Conditions of German Residents in Radiology - Results from a Nationwide Survey Conducted by the Young Radiology Forum in the German Roentgen Society. Rofo-Fortschr. Gebiet Rontgenstrahlen Bildgeb. Verfahr., 192 (5). STUTTGART: GEORG THIEME VERLAG KG. ISSN 1438-9010

Ruge, Maximilian I., Simon, Thorsten, Suchorska, Bogdana, Lehrke, Ralph, Hamisch, Christina, Koerber, Friederike, Maarouf, Mohammad, Treuer, Harald, Berthold, Frank, Sturm, Volker and Voges, Juergen (2011). Stereotactic Brachytherapy With Iodine-125 Seeds for the Treatment of Inoperable Low-Grade Gliomas in Children: Long-Term Outcome. J. Clin. Oncol., 29 (31). S. 4151 - 4160. ALEXANDRIA: AMER SOC CLINICAL ONCOLOGY. ISSN 1527-7755

Schaefer, Juergen Frank, Herrmann, Jochen, Kammer, Birgit, Koerber, Friederike, Tsiflikas, Ilias, von Kalle, Thekla and Mentzel, Hans-Joachim (2021). Advanced diagnostic imaging in children and adolescents with solid tumors Staging, risk stratification, and response assessment. Onkologe, 27 (5). S. 410 - 427. HEIDELBERG: SPRINGER HEIDELBERG. ISSN 1433-0415

Schalk, Gesa, Ehren, Rasmus, Koerber, Friederike and Weber, Lutz T. (2015). Magnetic resonance imaging findings in atypical hemolytic uremic syndrome with cerebral involvement. Mol. Immunol., 67 (1). S. 178 - 179. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD. ISSN 0161-5890