Research ExplorerResearch UnitsCenter for Obstetrics and Pediatrics Publications

Center for Obstetrics and Pediatrics

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Publications

  1. 2017

  2. Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea

    Petersen, B-S., August, D., Abt, R., Alddafari, M., Atarod, L., Baris, S., Bhavsar, H., Brinkert, F., Buchta, M., Bulashevska, A., Chee, R., Cordeiro, A. I., Dara, N., Dückers, G., Elmarsafy, A., Frede, N., Galal, N., Gerner, P., Glocker, E-O., Goldacker, S., Hammermann, J., Hasselblatt, P., Havlicekova, Z., Hübscher, K., Jesenak, M., Karaca, N. E., Karakoc-Aydiner, E., Kharaghani, M. M., Kilic, S. S., Kiykim, A., Klein, C., Klemann, C., Kobbe, R., Kotlarz, D., Laass, M. W., Leahy, T. R., Mesdaghi, M., Mitton, S., Neves, J. F., Öztürk, B., Pereira, L. F., Rohr, J., Restrepo, J. L. R., Ruzaike, G., Saleh, N., Seneviratne, S., Senol, E., Speckmann, C., Tegtmeyer, D., Thankam, P., van der Werff Ten Bosch, J., von Bernuth, H., Zeissig, S., Zeissig, Y., Franke, A. & Grimbacher, B., 12.2017, In: INFLAMM BOWEL DIS. 23, 12, p. 2109-2120 12 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  3. X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1

    Miyake, N., Wolf, N. I., Cayami, F. K., Crawford, J., Bley, A., Bulas, D., Conant, A., Bent, S. J., Gripp, K. W., Hahn, A., Humphray, S., Kimura-Ohba, S., Kingsbury, Z., Lajoie, B. R., Lal, D., Micha, D., Pizzino, A., Sinke, R. J., Sival, D., Stolte-Dijkstra, I., Superti-Furga, A., Ulrick, N., Taft, R. J., Ogata, T., Ozono, K., Matsumoto, N., Neubauer, B. A., Simons, C. & Vanderver, A., 12.2017, In: NEUROGENETICS. 18, 4, p. 185-194 10 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  4. Comprehensive Analysis of Hypermutation in Human Cancer

    Campbell, B. B., Light, N., Fabrizio, D., Zatzman, M., Fuligni, F., de Borja, R., Davidson, S., Edwards, M., Elvin, J. A., Hodel, K. P., Zahurancik, W. J., Suo, Z., Lipman, T., Wimmer, K., Kratz, C. P., Bowers, D. C., Laetsch, T. W., Dunn, G. P., Johanns, T. M., Grimmer, M. R., Smirnov, I. V., Larouche, V., Samuel, D., Bronsema, A., Osborn, M., Stearns, D., Raman, P., Cole, K. A., Storm, P. B., Yalon, M., Opocher, E., Mason, G., Thomas, G. A., Sabel, M., George, B., Ziegler, D. S., Lindhorst, S., Issai, V. M., Constantini, S., Toledano, H., Elhasid, R., Farah, R., Dvir, R., Dirks, P., Huang, A., Galati, M. A., Chung, J., Ramaswamy, V., Irwin, M. S., Aronson, M., Durno, C., Taylor, M. D., Rechavi, G., Maris, J. M., Bouffet, E., Hawkins, C., Costello, J. F., Meyn, M. S., Pursell, Z. F., Malkin, D., Tabori, U. & Shlien, A., 16.11.2017, In: CELL. 171, 5, p. 1042-1056.e10

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  5. Therapeutic targeting of extracellular DNA improves the outcome of intestinal ischemic reperfusion injury in neonatal rats

    Boettcher, M., Eschenburg, G., Mietzsch, S., Jiménez-Alcázar, M., Klinke, M., Vincent, D., Tiemann, B., Bergholz, R., Reinshagen, K. & Fuchs, T. A., 13.11.2017, In: SCI REP-UK. 7, 1, p. 15377

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  6. Recombinant ADAMTS-13: first-in-human pharmacokinetics and safety in congenital thrombotic thrombocytopenic purpura

    Scully, M., Knöbl, P., Kentouche, K., Rice, L., Windyga, J., Schneppenheim, R., Kremer Hovinga, J. A., Kajiwara, M., Fujimura, Y., Maggiore, C., Doralt, J., Hibbard, C., Martell, L. & Ewenstein, B., 09.11.2017, In: BLOOD. 130, 19, p. 2055-2063 9 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  7. Association of Serum Soluble Urokinase Receptor Levels With Progression of Kidney Disease in Children

    Schaefer, F., Trachtman, H., Wühl, E., Kirchner, M., Hayek, S. S., Anarat, A., Duzova, A., Mir, S., Paripovic, D., Yilmaz, A., Lugani, F., Arbeiter, K., Litwin, M., Oh, J., Matteucci, M. C., Gellermann, J., Wygoda, S., Jankauskiene, A., Klaus, G., Dusek, J., Testa, S., Zurowska, A., Caldas Afonso, A., Tracy, M., Wei, C., Sever, S., Smoyer, W., Reiser, J. & ESCAPE Trial Consortium and the 4C Study Group, 06.11.2017, In: JAMA PEDIATR. 171, 11, p. e172914

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  8. De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder

    Lessel, D., Schob, C., Küry, S., Reinders, M. R. F., Harel, T., Eldomery, M. K., Coban-Akdemir, Z., Denecke, J., Edvardson, S., Colin, E., Stegmann, A. P. A., Gerkes, E. H., Tessarech, M., Bonneau, D., Barth, M., Besnard, T., Cogné, B., Revah-Politi, A., Strom, T. M., Rosenfeld, J. A., Yang, Y., Posey, J. E., Immken, L., Oundjian, N., Helbig, K. L., Meeks, N., Zegar, K., Morton, J., DDD Study, Schieving, J. H., Claasen, A., Huentelman, M., Narayanan, V., Ramsey, K., Brunner, H. G., Elpeleg, O., Mercier, S., Bézieau, S., Kubisch, C., Kleefstra, T., Kindler, S., Lupski, J. R. & Kreienkamp, H-J., 02.11.2017, In: AM J HUM GENET. 101, 5, p. 716-724 9 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  9. A first-in-human clinical study of a new SP-B and SP-C enriched synthetic surfactant (CHF5633) in preterm babies with respiratory distress syndrome

    Sweet, D. G., Turner, M. A., Straňák, Z., Plavka, R., Clarke, P., Stenson, B. J., Singer, D., Goelz, R., Fabbri, L., Varoli, G., Piccinno, A., Santoro, D. & Speer, C. P., 11.2017, In: ARCH DIS CHILD-FETAL. 102, 6, p. F497-F503

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  10. Are All Amplitude-Integrated Electroencephalogram Systems Equal?

    Werther, T., Olischar, M., Naulaers, G., Deindl, P., Klebermass-Schrehof, K. & Stevenson, N., 11.2017, In: NEONATOLOGY. 112, 4, p. 394-401 8 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  11. Breastfeeding-related maternal microchimerism

    Kinder, J. M., Stelzer, I. A., Arck, P. C. & Way, S. S., 11.2017, In: NAT REV IMMUNOL. 17, 11, p. 730-1 2 p.

    Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research

  12. cIMPACT-NOW (the consortium to inform molecular and practical approaches to CNS tumor taxonomy): a new initiative in advancing nervous system tumor classification

    Louis, D. N., Aldape, K., Brat, D. J., Capper, D., Ellison, D. W., Hawkins, C., Paulus, W., Perry, A., Reifenberger, G., Figarella-Branger, D., Wesseling, P., Batchelor, T. T., Gregory Cairncross, J., Pfister, S. M., Rutkowski, S., Weller, M., Wick, W. & von Deimling, A., 11.2017, In: BRAIN PATHOL. 27, 6, p. 851-852 2 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  13. Degradation of Extracellular DNA by DNase1 Significantly Reduces Testicular Damage after Testicular Torsion in Rats

    Boettcher, M., Meier, D., Jiménez-Alcázar, M., Eschenburg, G., Mietzsch, S., Vincent, D., Klinke, M., Trochimiuk, M., Appl, B., Tiemann, B., Bergholz, R., Reinshagen, K. & Fuchs, T. A., 11.2017, In: UROLOGY. 109, p. 223.e1-223.e7

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  14. Hematopoietic stem cell transplantation rescues the hematological, immunological and vascular phenotype in DADA2

    Hashem, H., Kumar, A. R., Müller, I., Babor, F., Bredius, R., Dalal, J., Hsu, A. P., Holland, S. M., Hickstein, D. D., Jolles, S., Krance, R., Sasa, G., Taskinen, M., Koskenvuo, M., Saarela, J., van Montfrans, J., Wilson, K., Bosch, B., Moens, L., Hershfield, M. & Meyts, I., 11.2017, In: BLOOD. 130, 24, p. 2682-2688

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  15. Intrauterine Growth Restriction. Guideline of the German Society of Gynecology and Obstetrics (S2k-Level, AWMF Registry No. 015/080, October 2016)

    Kehl, S., Dötsch, J., Hecher, K., Schlembach, D., Schmitz, D., Stepan, H. & Gembruch, U., 11.2017, In: GEBURTSH FRAUENHEILK. 77, 11, p. 1157-1173 17 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  16. Lineage switch under blinatumomab treatment of relapsed common acute lymphoblastic leukemia without MLL rearrangement

    Zoghbi, A., Zur Stadt, U., Winkler, B., Müller, I. & Escherich, G., 11.2017, In: PEDIATR BLOOD CANCER. 64, 11, p. 11

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  17. Medulloblastoma: experimental models and reality

    Neumann, J. E., Swartling, F. J. & Schüller, U., 11.2017, In: ACTA NEUROPATHOL. 134, 5, p. 679-689

    Research output: SCORING: Contribution to journal › SCORING: Review article › Research

  18. Prenatal stress perception and coping strategies: Insights from a longitudinal prospective pregnancy cohort

    Goletzke, J., Kocalevent, R-D., Hansen, G., Rose, M., Becher, H., Hecher, K., Arck, P. C. & Diemert, A., 11.2017, In: J PSYCHOSOM RES. 102, p. 8-14 7 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  19. Site-1 protease and lysosomal homeostasis

    Velho, R. V., De Pace, R., Klünder, S., Di Lorenzo, G., Schweizer, M., Braulke, T. & Pohl, S., 11.2017, In: BBA-MOL CELL RES. 1864, 11 Pt B, p. 2162-2168

    Research output: SCORING: Contribution to journal › SCORING: Review article › Research

  20. Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1

    Said, E., Chong, J. X., Hempel, M., Denecke, J., Soler, P., Strom, T., Nickerson, D. A., Kubisch, C., Bamshad, M. J., Lessel, D. & University of Washington Center for Mendelian Genomics, 11.2017, In: AM J MED GENET A. 173, 11, p. 3098-3103

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  21. The mutation p.D313Y is associated with organ manifestation in Fabry disease

    du Moulin, M., Koehn, A. F., Golsari, A., Dulz, S., Atiskova, Y., Patten, M., Münch, J., Avanesov, M., Ullrich, K. & Muschol, N., 11.2017, In: CLIN GENET. 92, 5, p. 528-533 6 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  22. The role of constitutive activation of FMS-related tyrosine kinase-3 andmutational status in infants with-rearranged acute lymphoblastic leukemia

    Fedders, H., Alsadeq, A., Schmäh, J., Vogiatzi, F., Zimmermann, M., Möricke, A., Lenk, L., Stadt, U. Z., Horstmann, M. A., Pieters, R., Schrappe, M., Stanulla, M., Cario, G. & Schewe, D. M., 11.2017, In: HAEMATOLOGICA. 102, 11, p. e438-e442

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  23. The role of decidual immune cells on human pregnancy

    Liu, S., Diao, L-H., Huang, C., Li, Y., Zeng, Y. & Kwak-Kim, J. Y. H., 11.2017, In: J REPROD IMMUNOL. 124, p. 44-53

    Research output: SCORING: Contribution to journal › SCORING: Review article › Research

  24. The role of de novo mutations in the development of amyotrophic lateral sclerosis

    van Doormaal, P. T., Ticozzi, N., Weishaupt, J. H., Kenna, K., Diekstra, F. P., Verde, F., Andersen, P. M., Dekker, A. M., Tiloca, C., Marroquin, N., Overste, D. J., Pensato, V., Nürnberg, P., Pulit, S. L., Schellevis, R. D., Calini, D., Altmüller, J., Francioli, L. C., Muller, B., Castellotti, B., Motameny, S., Ratti, A., Wolf, J., Gellera, C., Ludolph, A. C., van den Berg, L. H., Kubisch, C., Landers, J. E., Veldink, J. H., Silani, V. & Volk, A. E., 11.2017, In: HUM MUTAT. 38, 11, p. 1534-1541

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  25. JAK2 aberrations in childhood B-cell precursor acute lymphoblastic leukemia

    Steeghs, E. M. P., Jerchel, I. S., de Goffau-Nobel, W., Hoogkamer, A. Q., Boer, J. M., Boeree, A., van de Ven, C., Koudijs, M. J., Besselink, N. J. M., de Groot-Kruseman, H. A., Zwaan, C. M., Horstmann, M. A., Pieters, R. & den Boer, M. L., 27.10.2017, In: ONCOTARGET. 8, 52, p. 89923-89938 16 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  26. Measles virus envelope pseudotyped lentiviral vectors transduce quiescent human HSCs at an efficiency without precedent

    Lévy, C., Amirache, F., Girard-Gagnepain, A., Frecha, C., Roman-Rodríguez, F. J., Bernadin, O., Costa, C., Nègre, D., Gutierrez-Guerrero, A., Vranckx, L. S., Clerc, I., Taylor, N., Thielecke, L., Cornils, K., Bueren, J. A., Rio, P., Gijsbers, R., Cosset, F-L. & Verhoeyen, E., 24.10.2017, In: Blood Adv. 1, 23, p. 2088-2104 17 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  27. Das CARE-for-CAYA-Programm. Präventionskonzept für junge Menschen nach Krebserkrankung

    Quidde, J., Koch, B., Salchow, J., Jensen, W., von Grundherr, J., Escherich, G., Rutkowski, S. J., Schulz-Kindermann, F., Bergelt, C., Bokemeyer, C., Sokalska-Duhme, M., Bielak, S., Calaminus, G., Classen, C-F., Rössig, C., Faber, J., Faller, H., Hilgendorf, I., Langer, T., Metzler, M., Schuster, S., Niemeyer, C., Pierce, A., Reinhardt, D., Dirksen, U., Sander, A., Köhler, M. & Stein, A., 23.10.2017, In: Forum. Das offizielle Magazin der Deutschen Krebsgesellschaft e.V.. 32, 06, p. 479-484

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  28. Sensitization of neuroblastoma for vincristine-induced apoptosis by Smac mimetic LCL161 is attended by G2 cell cycle arrest but is independent of NFκB, RIP1 and TNF-α

    Langemann, D., Trochimiuk, M., Appl, B., Hundsdoerfer, P., Reinshagen, K. & Eschenburg, G., 20.10.2017, In: ONCOTARGET. 8, 50, p. 87763-87772 10 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  29. Complement Activation in Peritoneal Dialysis-Induced Arteriolopathy

    Bartosova, M., Schaefer, B., Bermejo, J. L., Tarantino, S., Lasitschka, F., Macher-Goeppinger, S., Sinn, P., Warady, B. A., Zaloszyc, A., Parapatics, K., Májek, P., Bennett, K. L., Oh, J., Aufricht, C., Schaefer, F., Kratochwill, K. & Schmitt, C. P., 18.10.2017, In: J AM SOC NEPHROL.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  30. Minimal methylation classifier (MIMIC): A novel method for derivation and rapid diagnostic detection of disease-associated DNA methylation signatures

    Schwalbe, E. C., Hicks, D., Rafiee, G., Bashton, M., Gohlke, H., Enshaei, A., Potluri, S., Matthiesen, J., Mather, M., Taleongpong, P., Chaston, R., Silmon, A., Curtis, A., Lindsey, J. C., Crosier, S., Smith, A. J., Goschzik, T., Doz, F., Rutkowski, S., Lannering, B., Pietsch, T., Bailey, S., Williamson, D. & Clifford, S. C., 18.10.2017, In: SCI REP-UK. 7, 1, p. 13421

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  31. Treatment of brain disease in the mucopolysaccharidoses

    Scarpa, M., orchard, P., Schulz, A., Dickson, P. I., Haskins, M. E., Escolar, M. L. & Giugliani, R., 16.10.2017, In: MOL GENET METAB. 122S, p. 25-34 10 p.

    Research output: SCORING: Contribution to journal › SCORING: Review article › Research

  32. A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction

    Fazeli, W., Herkenrath, P., Stiller, B., Neugebauer, A., Fricke, J., Lang-Roth, R., Nürnberg, G., Thoenes, M., Becker, J., Altmüller, J., Volk, A. E., Kubisch, C. & Heller, R., 15.10.2017, In: HUM MOL GENET. 26, 20, p. 4055-4066 12 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  33. Immunohistochemical and serological characterization of membranous nephropathy in children and adolescents

    Dettmar, A. K., Wiech, T., Kemper, M. J., Soave, A., Rink, M., Oh, J., Stahl, R. A. K., Hoxha, E. & Pediatric MN Study Group, 15.10.2017, In: PEDIATR NEPHROL. 33, 3, p. 463-472

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  34. The complete European guidelines on phenylketonuria: diagnosis and treatment

    van Wegberg, A. M. J., MacDonald, A., Ahring, K., Bélanger-Quintana, A., Blau, N., Bosch, A. M., Burlina, A., Campistol, J., Feillet, F., Giżewska, M., Huijbregts, S. C., Kearney, S., Leuzzi, V., Maillot, F., Muntau, A. C., van Rijn, M., Trefz, F., Walter, J. H. & van Spronsen, F. J., 12.10.2017, In: ORPHANET J RARE DIS. 12, 1, p. 162

    Research output: SCORING: Contribution to journal › SCORING: Review article › Research

  35. Dysfunction of the MDM2/p53 axis is linked to premature aging

    Lessel, D., Wu, D., Trujillo, C., Ramezani, T., Lessel, I., Alwasiyah, M. K., Saha, B., Hisama, F. M., Rading, K., Goebel, I., Schütz, P., Speit, G., Högel, J., Thiele, H., Nürnberg, G., Nürnberg, P., Hammerschmidt, M., Zhu, Y., Tong, D. R., Katz, C., Martin, G. M., Oshima, J., Prives, C. & Kubisch, C., 02.10.2017, In: J CLIN INVEST. 127, 10, p. 3598-3608

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  36. Intracystic interferon-alpha in pediatric craniopharyngioma patients: an international multicenter assessment on behalf of SIOPE and ISPN

    Kilday, J-P., Caldarelli, M., Massimi, L., Chen, R. H-H., Lee, Y. Y., Liang, M-L., Parkes, J., Naiker, T., van Veelen, M-L., Michiels, E., Mallucci, C., Pettorini, B., Meijer, L., Dorfer, C., Czech, T., Diezi, M., Schouten-van Meeteren, A. Y. N., Holm, S., Gustavsson, B., Benesch, M., Müller, H. L., Hoffmann, A., Rutkowski, S., Flitsch, J., Escherich, G., Grotzer, M., Spoudeas, H. A., Azquikina, K., Capra, M., Jiménez-Guerra, R., MacDonald, P., Johnston, D. L., Dvir, R., Constantini, S., Kuo, M-F., Yang, S-H. & Bartels, U., 01.10.2017, In: NEURO-ONCOLOGY. 19, 10, p. 1398-1407 10 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  37. A mouse model for embryonal tumors with multilayered rosettes uncovers the therapeutic potential of Sonic-hedgehog inhibitors

    Neumann, J. E., Wefers, A. K., Lambo, S., Bianchi, E., Bockstaller, M., Dorostkar, M. M., Meister, V., Schindler, P., Korshunov, A., von Hoff, K., Nowak, J., Warmuth-Metz, M., Schneider, M. R., Renner-Müller, I., Merk, D. J., Shakarami, M., Sharma, T., Chavez, L., Glass, R., Chan, J. A., Taketo, M. M., Neumann, P., Kool, M. & Schüller, U., 10.2017, In: NAT MED. 23, 10, p. 1191-1202

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  38. Development and Initial Validation of the Macrophage Activation Syndrome/Primary Hemophagocytic Lymphohistiocytosis Score, a Diagnostic Tool that Differentiates Primary Hemophagocytic Lymphohistiocytosis from Macrophage Activation Syndrome

    Minoia, F., Bovis, F., Davì, S., Insalaco, A., Lehmberg, K., Shenoi, S., Weitzman, S., Espada, G., Gao, Y-J., Anton, J., Kitoh, T., Kasapcopur, O., Sanner, H., Merino, R., Astigarraga, I., Alessio, M., Jeng, M., Chasnyk, V., Nichols, K. E., Huasong, Z., Li, C., Micalizzi, C., Ruperto, N., Martini, A., Cron, R. Q., Ravelli, A., Horne, A. & Pediatric Rheumatology International Trials Organization, the Childhood Arthritis and Rheumatology Research Alliance, the Pediatric Rheumatology Collaborative Study Group, and the Histiocyte Society, 10.2017, In: J PEDIATR-US. 189, p. 72-78.e3

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  39. Exome Sequencing is a Valuable Approach in Critically Ill Patients with Suspected Monogenic Disease: Diagnosis of X-linked Centronuclear Myopathy in Preterm Twins

    Johannsen, J., Hempel, M., Diehl, T., Haack, T. B. & Denecke, J., 10.2017, In: PEDIATR NEONATOL. 58, 5, p. 458-459

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  40. Genetic barcodes facilitate competitive clonal analyses in vivo

    Aranyossy, T., Thielecke, L., Glauche, I., Fehse, B. & Cornils, K., 10.2017, In: HUM GENE THER. 28, 10, p. 926-937

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  41. Long-Term Outcome of Steroid-Resistant Nephrotic Syndrome in Children

    Trautmann, A., Schnaidt, S., Lipska-Ziętkiewicz, B. S., Bodria, M., Ozaltin, F., Emma, F., Anarat, A., Melk, A., Azocar, M., Oh, J., Saeed, B., Gheisari, A., Caliskan, S., Gellermann, J., Higuita, L. M. S., Jankauskiene, A., Drozdz, D., Mir, S., Balat, A., Szczepanska, M., Paripovic, D., Zurowska, A., Bogdanovic, R., Yilmaz, A., Ranchin, B., Baskin, E., Erdogan, O., Remuzzi, G., Firszt-Adamczyk, A., Kuzma-Mroczkowska, E., Litwin, M., Murer, L., Tkaczyk, M., Jardim, H., Wasilewska, A., Printza, N., Fidan, K., Simkova, E., Borzecka, H., Staude, H., Hees, K., Schaefer, F. & PodoNet Consortium, 10.2017, In: J AM SOC NEPHROL. 28, 10, p. 3055-3065

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  42. Neurotoxic side effects in children with refractory or relapsed T-cell malignancies treated with nelarabine based therapy

    Kuhlen, M., Bleckmann, K., Möricke, A., Schrappe, M., Vieth, S., Escherich, G., Bronsema, A., Vonalt, A., Queudeville, M., Zwaan, C. M., Ebinger, M., Debatin, K-M., Klingebiel, T., Koscielniak, E., Rossig, C., Burkhardt, B., Kolb, R., Eckert, C., Borkhardt, A., von Stackelberg, A. & Chen-Santel, C., 10.2017, In: BRIT J HAEMATOL. 179, 2, p. 272-283

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  43. Optic Disc Drusen and Family History of Glaucoma-Results of a Patient-directed Survey

    Gramer, G., Gramer, E. & Weisschuh, N., 10.2017, In: J GLAUCOMA. 26, 10, p. 940-946 7 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  44. Osteonecrosis develops independently from radiological leukemic infiltration of bone in adolescents with acute lymphoblastic leukemia - first findings of the OPAL trial

    Krull, K., Kunstreich, M., Klasen-Sansone, J., Kloetgen, A., Gruener, F., Escherich, G., Bleckmann, K., Moericke, A., Schrappe, M., Jorch, N., Steinbach, D., Classen, C-F., Guggemos, A., Kolb, R., Klee, D., Borkhardt, A. & Kuhlen, M., 10.2017, In: LEUKEMIA LYMPHOMA. 58, 10, p. 2363-2369 10 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  45. Severe bone loss and multiple fractures in SCN8A-related epileptic encephalopathy

    Rolvien, T., Butscheidt, S., Jeschke, A., Neu, A., Denecke, J., Kubisch, C., Meisler, M. H., Püschel, K., Barvencik, F., Yorgan, T., Oheim, R., Schinke, T. & Amling, M., 10.2017, In: BONE. 103, p. 136-143

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  46. The Heidelberg Appendicitis Score Predicts Perforated Appendicitis in Children

    Boettcher, M., Günther, P. & Breil, T., 10.2017, In: CLIN PEDIATR. 56, 12, p. 1115-1119

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  47. The rapid evolution of molecular genetic diagnostics in neuromuscular diseases

    Volk, A. E. & Kubisch, C., 10.2017, In: CURR OPIN NEUROL. 30, 5, p. 523-528

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  48. Versorgung von Patienten nach Krebserkrankung im Kindes-, Jugend- oder jungen Erwachsenenalter

    Quidde, J., Koch, B., Salchow, J., Jensen, W., von Grundherr, J., Escherich, G., Rutkowski, S. J., Schulz-Kindermann, F., Bergelt, C., Bokemeyer, C., Sokalska-Duhme, M., Bielak, S., Calaminus, G., Classen, C-F., Rössig, C., Faber, J., Faller, H., Hilgendorf, I., Langer, T., Metzler, M., Schuster, S., Niemeyer, C., Pierce, A., Reinhardt, D., Dirksen, U., Sander, A., Köhler, M. & Stein, A., 10.2017, In: J Onkol - Z Onkol Fortb. 2017, 10, p. 862-866

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  49. Human dorsal root ganglion in vivo morphometry and perfusion in Fabry painful neuropathy

    Godel, T., Bäumer, P., Pham, M., Köhn, A., Muschol, N., Kronlage, M., Kollmer, J., Heiland, S., Bendszus, M. & Mautner, V-F., 19.09.2017, In: NEUROLOGY. 89, 12, p. 1274-1282 9 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  50. Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy

    Syrbe, S., Harms, F. L., Parrini, E., Montomoli, M., Mütze, U., Helbig, K. L., Polster, T., Albrecht, B., Bernbeck, U., van Binsbergen, E., Biskup, S., Burglen, L., Denecke, J., Heron, B., Heyne, H. O., Hoffmann, G. F., Hornemann, F., Matsushige, T., Matsuura, R., Kato, M., Korenke, G. C., Kuechler, A., Lämmer, C., Merkenschlager, A., Mignot, C., Ruf, S., Nakashima, M., Saitsu, H., Stamberger, H., Pisano, T., Tohyama, J., Weckhuysen, S., Werckx, W., Wickert, J., Mari, F., Verbeek, N. E., Møller, R. S., Koeleman, B., Matsumoto, N., Dobyns, W. B., Battaglia, D., Lemke, J. R., Kutsche, K. & Guerrini, R., 01.09.2017, In: BRAIN. 140, 9, p. 2322-2336 15 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  51. Asparaginase-associated pancreatitis in childhood acute lymphoblastic leukaemia: an observational Ponte di Legno Toxicity Working Group study

    Wolthers, B. O., Frandsen, T. L., Baruchel, A., Attarbaschi, A., Barzilai, S., Colombini, A., Escherich, G., Grell, K., Inaba, H., Kovacs, G., Liang, D-C., Mateos, M., Mondelaers, V., Möricke, A., Ociepa, T., Samarasinghe, S., Silverman, L. B., van der Sluis, I. M., Stanulla, M., Vrooman, L. M., Yano, M., Zapotocka, E., Schmiegelow, K. & Ponte di Legno toxicity working group, 09.2017, In: LANCET ONCOL. 18, 9, p. 1238-1248 11 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

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