Center for Obstetrics and Pediatrics
Publications
- 2019
Retinal hyperreflective foci in Fabry disease
Atiskova, Y., Rassuli, R., Koehn, A. F., Golsari, A., Wagenfeld, L., du Moulin, M., Muschol, N. & Dulz, S., 26.12.2019, In: ORPHANET J RARE DIS. 14, 1, p. 296Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Primary central nervous system lymphoma: initial features, outcome, and late effects in 75 children and adolescents
Attarbaschi, A., Abla, O., Ronceray, L., Bansil, S., Bomken, S., Burkhardt, B., Ceppi, F., Chiang, A. K. S., Dave, H., Fedorova, A., Henry, M., Jazbec, J., Kabickova, E., Kotecha, R. S., Lazic, J., Loeffen, J., Miakova, N., Osumi, T., Pillon, M., Pourtsidis, A., Rigaud, C., Tamamyan, G., Tandon, S., Uyttebroeck, A., Verdu-Amoros, J., Woessmann, W., Wrobel, G., Giulino-Roth, L., European Intergrp Childhood Non-Ho, Int Berlin-Frankfurt-Munster Study & Selected North Amer Ctr Pediat Hem, 23.12.2019, In: Blood Adv. 3, 24, p. 4291-4297 7 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Improving Stratification for Children With Late Bone Marrow B-Cell Acute Lymphoblastic Leukemia Relapses With Refined Response Classification and Integration of Genetics
Eckert, C., Groeneveld-Krentz, S., Kirschner-Schwabe, R., Hagedorn, N., Chen-Santel, C., Bader, P., Borkhardt, A., Cario, G., Escherich, G., Panzer-Grümayer, R., Astrahantseff, K., Eggert, A., Sramkova, L., Attarbaschi, A., Bourquin, J-P., Peters, C., Henze, G., von Stackelberg, A. & ALL-REZ BFM Trial Group, 20.12.2019, In: J CLIN ONCOL. 37, 36, p. 3493-3506 14 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
MRI Phenotype of RELA-fused Pediatric Supratentorial Ependymoma
Nowak, J., Jünger, S. T., Huflage, H., Seidel, C., Hohm, A., Vandergrift, L. A., von Hoff, K., Rutkowski, S., Pietsch, T. & Warmuth-Metz, M., 19.12.2019, In: CLIN NEURORADIOL. 29, 4, p. 595-604 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Hypophosphatasie - eine klinisch und genetisch variable Erkrankung
Jandl, N. M., Volk, A. E. & Barvencik, F., 12.12.2019, In: MED GENET-BERLIN. 2019, 31, p. 364-371 31.Research output: SCORING: Contribution to journal › SCORING: Review article › Research
Phase I/II intra-patient dose escalation study of vorinostat in children with relapsed solid tumor, lymphoma, or leukemia
van Tilburg, C. M., Milde, T., Witt, R., Ecker, J., Hielscher, T., Seitz, A., Schenk, J-P., Buhl, J. L., Riehl, D., Frühwald, M. C., Pekrun, A., Rossig, C., Wieland, R., Flotho, C., Kordes, U., Gruhn, B., Simon, T., Linderkamp, C., Sahm, F., Taylor, L., Freitag, A., Burhenne, J., Foerster, K. I., Meid, A. D., Pfister, S. M., Karapanagiotou-Schenkel, I. & Witt, O., 10.12.2019, In: CLIN EPIGENETICS. 11, 1, p. 188Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
The transcriptional coactivator and histone acetyltransferase CBP regulates neural precursor cell development and migration
Schoof, M., Launspach, M., Holdhof, D., Nguyen, L., Engel, V., Filser, S., Peters, F., Immenschuh, J., Hellwig, M., Niesen, J., Mall, V., Ertl-Wagner, B., Hagel, C., Spohn, M., Lutz, B., Sedlacik, J., Indenbirken, D., Merk, D. J. & Schüller, U., 05.12.2019, In: ACTA NEUROPATHOL COM. 7, 1, p. 199Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Reply: Adult-onset distal spinal muscular atrophy: a new phenotype associated with KIF5A mutations
Brenner, D., Rosenbohm, A., Yilmaz, R., Müller, K., Grehl, T., Petri, S., Meyer, T., Grosskreutz, J., Weydt, P., Ruf, W., Neuwirth, C., Weber, M., Pinto, S., Claeys, K. G., Schrank, B., Jordan, B., Knehr, A., Günther, K., Hübers, A., Zeller, D., Kubisch, C., Jablonka, S., Sendtner, M., Klopstock, T., de Carvalho, M., Sperfeld, A., Borck, G., Volk, A. E., Dorst, J., Weis, J., Otto, M., Schuster, J., Del Tredici, K., Braak, H., Danzer, K. M., Freischmidt, A., Meitinger, T., Ludolph, A. C., Andersen, P. M., Weishaupt, J. H. & German ALS network MND-NET, 01.12.2019, In: BRAIN. 142, 12, p. e67Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research
Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy
Johannesen, K. M., Mitter, D., Janowski, R., Roth, C., Toulouse, J., Poulat, A-L., Ville, D. M., Chatron, N., Brilstra, E., Geleijns, K., Born, A. P., McLean, S., Nugent, K., Baynam, G., Poulton, C., Dreyer, L., Gration, D., Schulz, S., Dieckmann, A., Helbig, K. L., Merkenschlager, A., Jamra, R., Finck, A., Gardella, E., Hjalgrim, H., Mirzaa, G., Brancati, F., Bierhals, T., Denecke, J., Hempel, M., Lemke, J. R., Rubboli, G., Muschke, P., Guerrini, R., Vetro, A., Niessing, D., Lesca, G. & Møller, R. S., 12.2019, In: NEUROL-GENET. 5, 6, p. e373Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Disease modeling of a mutation in α-actinin 2 guides clinical therapy in hypertrophic cardiomyopathy
Prondzynski, M., Lemoine, M. D., Zech, A. T. L., Horvath, A., Di Mauro, V., Koivumäki, J. T., Kresin, N., Busch, J., Krause, T., Krämer, E., Schlossarek, S., Spohn, M., Friedrich, F., Münch, J., Laufer, S., Redwood, C., Volk, A. E., Hansen, A., Mearini, G., Catalucci, D., Meyer, C., Christ, T., Patten, M., Eschenhagen, T. & Carrier, L., 12.2019, In: EMBO MOL MED. 11, 12, e11115.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Excessive Seizure Clusters in an Otherwise Well-Controlled Epilepsy as a Possible Hallmark of Untreated Vitamin B6-Responsive Epilepsy due to a Homozygous PLPBP Missense Variant
Johannsen, J., Bierhals, T., Deindl, P., Hecher, L., Hermann, K., Hempel, M., Kloth, K. & Denecke, J., 12.2019, In: J PEDIATR GENET. 8, 4, p. 222-225 4 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Obstructive sleep apnea and craniofacial appearance in MPS type I-Hurler children after hematopoietic stem cell transplantation
Koehne, T., Müller-Stöver, S., Köhn, A., Stumpfe, K., Lezius, S., Schmid, C., Lukacs, Z., Kahl-Nieke, B. & Muschol, N., 12.2019, In: SLEEP BREATH. 23, 4, p. 1315-1321 7 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Oxalate retinopathy is irreversible despite early combined liver-kidney transplantation in primary hyperoxaluria type 1
Atiskova, Y., Dulz, S., Schmäschke, K., Oh, J., Grabhorn, E., Kemper, M. J. & Brinkert, F., 12.2019, In: AM J TRANSPLANT. 19, 12, p. 3328-3334 7 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Pain and Sedation Scales for Neonatal and Pediatric Patients in a Preverbal Stage of Development: A Systematic Review
Giordano, V., Edobor, J., Deindl, P., Wildner, B., Goeral, K., Steinbauer, P., Werther, T., Berger, A. & Olischar, M., 12.2019, In: JAMA PEDIATR.Research output: SCORING: Contribution to journal › SCORING: Review article › Research
PEDIA: prioritization of exome data by image analysis
Hsieh, T-C., Mensah, M. A., Pantel, J. T., Aguilar, D., Bar, O., Bayat, A., Becerra-Solano, L., Bentzen, H. B., Biskup, S., Borisov, O., Braaten, O., Ciaccio, C., Coutelier, M., Cremer, K., Danyel, M., Daschkey, S., Eden, H. D., Devriendt, K., Wilson, S., Douzgou, S., Đukić, D., Ehmke, N., Fauth, C., Fischer-Zirnsak, B., Fleischer, N., Gabriel, H., Graul-Neumann, L., Gripp, K. W., Gurovich, Y., Gusina, A., Haddad, N., Hajjir, N., Hanani, Y., Hertzberg, J., Hoertnagel, K., Howell, J., Ivanovski, I., Kaindl, A., Kamphans, T., Kamphausen, S., Karimov, C., Kathom, H., Keryan, A., Knaus, A., Köhler, S., Kornak, U., Lavrov, A., Leitheiser, M., Lyon, G. J., Mangold, E., Reina, P. M., Carrascal, A. M., Mitter, D., Herrador, L. M., Nadav, G., Nöthen, M., Orrico, A., Ott, C-E., Park, K., Peterlin, B., Pölsler, L., Raas-Rothschild, A., Randolph, L., Revencu, N., Fagerberg, C. R., Robinson, P. N., Rosnev, S., Rudnik, S., Rudolf, G., Schatz, U., Schossig, A., Schubach, M., Shanoon, O., Sheridan, E., Smirin-Yosef, P., Spielmann, M., Suk, E-K., Sznajer, Y., Thiel, G., Verloes, A., Vrecar, I., Wahl, D., Weber, I., Winter, K., Wiśniewska, M., Wollnik, B., Yeung, M. W., Zhao, M., Zhu, N., Zschocke, J., Mundlos, S., Horn, D. & Krawitz, P. M., 12.2019, In: GENET MED. 21, 12, p. 2807-2814 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
The CLN3 gene and protein: What we know
Mirza, M., Vainshtein, A., DiRonza, A., Chandrachud, U., Haslett, L. J., Palmieri, M., Storch, S., Groh, J., Dobzinski, N., Napolitano, G., Schmidtke, C. & Kerkovich, D. M., 12.2019, In: MOL GENET GENOM MED. 7, 12, p. e859Research output: SCORING: Contribution to journal › SCORING: Review article › Research
The molecular landscape of ETMR at diagnosis and relapse
Lambo, S., Gröbner, S. N., Rausch, T., Waszak, S. M., Schmidt, C., Gorthi, A., Romero, J. C., Mauermann, M., Brabetz, S., Krausert, S., Buchhalter, I., Koster, J., Zwijnenburg, D. A., Sill, M., Hübner, J-M., Mack, N., Schwalm, B., Ryzhova, M., Hovestadt, V., Papillon-Cavanagh, S., Chan, J. A., Landgraf, P., Ho, B., Milde, T., Witt, O., Ecker, J., Sahm, F., Sumerauer, D., Ellison, D. W., Orr, B. A., Darabi, A., Haberler, C., Figarella-Branger, D., Wesseling, P., Schittenhelm, J., Remke, M., Taylor, M. D., Gil-da-Costa, M. J., Łastowska, M., Grajkowska, W., Hasselblatt, M., Hauser, P., Pietsch, T., Uro-Coste, E., Bourdeaut, F., Masliah-Planchon, J., Rigau, V., Alexandrescu, S., Wolf, S., Li, X-N., Schüller, U., Snuderl, M., Karajannis, M. A., Giangaspero, F., Jabado, N., von Deimling, A., Jones, D. T. W., Korbel, J. O., von Hoff, K., Lichter, P., Huang, A., Bishop, A. J. R., Pfister, S. M., Korshunov, A. & Kool, M., 12.2019, In: NATURE. 576, 7786, p. 274-280 7 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Zinkmangel als Ursache eines „Dekubitus“ beim Frühgeborenen?
Asselborn, J. R., Thayssen, M., Lehmberg, K., Apostolidou, S. & Singer, D., 12.2019, In: Z GEBURTSH NEONATOL. 223, 6, p. 369-372 4 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Case-matched Comparison of Cardiovascular Outcome in Loeys-Dietz Syndrome versus Marfan Syndrome
Mühlstädt, K., De Backer, J., von Kodolitsch, Y., Kutsche, K., Muiño Mosquera, L., Brickwedel, J., Girdauskas, E., Mir, T. S., Mahlmann, A., Tsilimparis, N., Staebler, A., Schoof, L., Seidel, H., Berger, J., Bernhardt, A. M., Blankenberg, S., Kölbel, T., Detter, C., Szöcs, K. & Kaemmerer, H., 29.11.2019, In: J CLIN MED. 8, 12Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Characterization of novel, recurrent genomic rearrangements as sensitive MRD targets in childhood B-cell precursor ALL
Zur Stadt, U., Alawi, M., Adao, M., Indenbirken, D., Escherich, G. & Horstmann, M. A., 29.11.2019, In: BLOOD CANCER J. 9, 12, p. 96Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Results of CoALL 07-03 study childhood ALL based on combined risk assessment by in vivo and in vitro pharmacosensitivity
Schramm, F., Zur Stadt, U., Zimmermann, M., Jorch, N., Pekrun, A., Borkhardt, A., Imschweiler, T., Christiansen, H., Faber, J., Schmid, I., Feuchtinger, T., Beron, G., den Boer, M. L., Pieters, R., Horstmann, M. A., Janka-Schaub, G. E. & Escherich, G., 26.11.2019, In: Blood Adv. 3, 22, p. 3688-3699 12 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Improved risk-stratification for posterior fossa ependymoma of childhood considering clinical, histological and genetic features - a retrospective analysis of the HIT ependymoma trial cohort
Jünger, S. T., Mynarek, M., Wohlers, I., Dörner, E., Mühlen, A. Z., Velez-Char, N., von Hoff, K., Rutkowski, S., Warmuth-Metz, M., Kortmann, R-D., Timmermann, B., Rahmann, S., Klein-Hitpass, L., von Bueren, A. O. & Pietsch, T., 14.11.2019, In: ACTA NEUROPATHOL COM. 7, 1, p. 181Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Cav2.3 channels contribute to dopaminergic neuron loss in a model of Parkinson's disease
Benkert, J., Hess, S., Roy, S., Beccano-Kelly, D., Wiederspohn, N., Duda, J., Simons, C., Patil, K., Gaifullina, A., Mannal, N., Dragicevic, E., Spaich, D., Müller, S., Nemeth, J., Hollmann, H., Deuter, N., Mousba, Y., Kubisch, C., Poetschke, C., Striessnig, J., Pongs, O., Schneider, T., Wade-Martins, R., Patel, S., Parlato, R., Frank, T., Kloppenburg, P. & Liss, B., 08.11.2019, In: NAT COMMUN. 10, 1, p. 5094Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Monitoring intra-abdominal pressure after liver transplantation in children
Deindl, P., Wagner, J., Herden, U., Schulz-Jürgensen, S., Schild, R., Vettorazzi, E., Bergers, M., Keck, M., Singer, D., Fischer, L. & Herrmann, J., 01.11.2019, In: PEDIATR TRANSPLANT. 23, 7, p. e13565Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Comparison of procalcitonin and C-reactive protein as early diagnostic marker for the identification of transplant-related adverse events after allogeneic hematopoietic stem cell transplantation in pediatric patients
Cabanillas Stanchi, K. M., Queudeville, M., Malaval, C., Feucht, J., Schlegel, P., Dobratz, M., Seitz, C., Müller, I., Lang, P., Handgretinger, R. & Döring, M., 11.2019, In: J CANCER RES CLIN. 145, 11, p. 2779-2791 13 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Greater Susceptibility for Metabolic Syndrome in Pediatric Solid Organ and Stem Cell Transplant Recipients
Blöte, R., Memaran, N., Borchert-Mörlins, B., Thurn-Valsassina, D., Goldschmidt, I., Beier, R., Sauer, M., Müller, C., Sarganas, G., Oh, J., Büscher, R., Kemper, M. J., Sugianto, R. I., Epping, J., Schmidt, B. M. W. & Melk, A., 11.2019, In: TRANSPLANTATION. 103, 11, p. 2423-2433 11 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Identification of Distant Metastases From Recurrent Gliosarcoma Using Whole-Body 18F-FDG PET/CT
Unterrainer, M., Ruf, V., Cyran, C. C., Brendel, M., Thon, N., Herms, J., Schüller, U., Tonn, J-C., Bartenstein, P. & Albert, N. L., 11.2019, In: CLIN NUCL MED. 44, 11, p. 923-924 2 p.Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research
Imaging Characteristics of Wingless Pathway Subgroup Medulloblastomas: Results from the German HIT/SIOP-Trial Cohort
Stock, A., Mynarek, M., Pietsch, T., Pfister, S. M., Clifford, S. C., Goschzik, T., Sturm, D., Schwalbe, E. C., Hicks, D., Rutkowski, S., Bison, B., Pham, M. & Warmuth-Metz, M., 11.2019, In: AM J NEURORADIOL. 40, 11, p. 1811-1817 7 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
International consensus statement on the diagnosis and management of autosomal dominant polycystic kidney disease in children and young people
Gimpel, C., Bergmann, C., Bockenhauer, D., Breysem, L., Cadnapaphornchai, M. A., Cetiner, M., Dudley, J., Emma, F., Konrad, M., Harris, T., Harris, P. C., König, J., Liebau, M. C., Marlais, M., Mekahli, D., Metcalfe, A. M., Oh, J., Perrone, R. D., Sinha, M. D., Titieni, A., Torra, R., Weber, S., Winyard, P. J. D. & Schaefer, F., 11.2019, In: NAT REV NEPHROL. 15, 11, p. 713-726 14 p.Research output: SCORING: Contribution to journal › SCORING: Review article › Research
Intravenous Artesunate for Imported Severe Malaria in Children Treated in Four Tertiary Care Centers in Germany: A Retrospective Study
Bélard, S., Brand, J., Schulze-Sturm, U., Janda, A., von Both, U., Tacoli, C., Alberer, M., Kempf, C., Stegemann, M. S., Krüger, R., Varnholt, V., Blohm, M., Reiter, K., Zoller, T., Suttorp, N., Mall, M., von Bernuth, H., Gratopp, A., Hübner, J., Hufnagel, M., Kobbe, R. & Kurth, F., 11.2019, In: PEDIATR INFECT DIS J. 38, 11, p. e295-e300Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease
Gardner, E., Bailey, M., Schulz, A., Aristorena, M., Miller, N. & Mole, S. E., 11.2019, In: HUM MUTAT. 40, 11, p. 1924-1938 15 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Presence of centromeric but absence of telomeric group B KIR haplotypes in stem cell donors improve leukaemia control after HSCT for childhood ALL
Babor, F., Peters, C., Manser, A. R., Glogova, E., Sauer, M., Pötschger, U., Ahlmann, M., Cario, G., Feuchtinger, T., Gruhn, B., Güngör, T., Kremens, B., Lang, P., Mezger, M., Müller, I., Mytilineos, J., Oevermann, L., Pichler, H., Scherenschlich, N., Schuster, F. R., Siepermann, M., Stachel, D., Strahm, B., Wössmann, W., Escherich, G., Zimmermann, M., Schrappe, M., Borkhardt, A., Eckert, C., Bader, P., Uhrberg, M. & Meisel, R., 11.2019, In: BONE MARROW TRANSPL. 54, 11, p. 1847-1858 12 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision
Häberle, J., Burlina, A., Chakrapani, A., Dixon, M., Karall, D., Lindner, M., Mandel, H., Martinelli, D., Pintos-Morell, G., Santer, R., Skouma, A., Servais, A., Tal, G., Rubio, V., Huemer, M. & Dionisi-Vici, C., 11.2019, In: J INHERIT METAB DIS. 42, 6, p. 1192-1230 39 p.Research output: SCORING: Contribution to journal › SCORING: Review article › Research
Erratum: Third Trimester Umbilical Artery Doppler in Low-Risk Pregnancies and its Correlation to Estimated Fetal Weight and Birthweight
Sirico, A., Diemert, A., Glosemeyer, P. & Hecher, K., 31.10.2019, In: ULTRASCHALL MED. 42, 3, e55.Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research
Interaction of Pregnancy-Specific Glycoprotein 1 With Integrin Α5β1 Is a Modulator of Extravillous Trophoblast Functions
Rattila, S., Dunk, C. E. E., Im, M., Grichenko, O., Zhou, Y., Yanez-Mo, M., Blois, S. M., Yamada, K. M., Erez, O., Gomez-Lopez, N., Lye, S. J., Hinz, B., Romero, R., Cohen, M. & Dveksler, G., 31.10.2019, In: CELLS-BASEL. 8, 11Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
The Actin Binding Protein Plastin-3 Is Involved in the Pathogenesis of Acute Myeloid Leukemia
Velthaus, A., Cornils, K., Hennigs, J. K., Grüb, S., Stamm, H., Wicklein, D., Bokemeyer, C., Heuser, M., Windhorst, S., Fiedler, W. & Wellbrock, J., 26.10.2019, In: CANCERS. 11, 11Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
An in-depth multi-omics analysis in RLE-6TN rat alveolar epithelial cells allows for nanomaterial categorization
Karkossa, I., Bannuscher, A., Hellack, B., Bahl, A., Buhs, S., Nollau, P., Luch, A., Schubert, K., von Bergen, M. & Haase, A., 25.10.2019, In: PART FIBRE TOXICOL. 16, 1, p. 38Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Pediatric ALL relapses after allo-SCT show high individuality, clonal dynamics, selective pressure, and druggable targets
Hoell, J. I., Ginzel, S., Kuhlen, M., Kloetgen, A., Gombert, M., Fischer, U., Hein, D., Demir, S., Stanulla, M., Schrappe, M., Zur Stadt, U., Bader, P., Babor, F., Schuster, F., Strahm, B., Alten, J., Moericke, A., Escherich, G., von Stackelberg, A., Thiele, R., McHardy, A. C., Peters, C., Bornhauser, B., Bourquin, J-P., Krause, S., Enczmann, J., Meyer, L. H., Eckert, C., Borkhardt, A. & Meisel, R., 22.10.2019, In: Blood Adv. 3, 20, p. 3143-3156 14 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
T Cell Repertoire Dynamics during Pregnancy in Multiple Sclerosis
Ramien, C., Yusko, E. C., Engler, J. B., Gamradt, S., Patas, K., Schweingruber, N., Willing, A., Rosenkranz, S. C., Diemert, A., Harrison, A., Vignali, M., Sanders, C., Robins, H. S., Tolosa, E., Heesen, C., Arck, P. C., Scheffold, A., Chan, K., Emerson, R. O., Friese, M. A. & Gold, S. M., 22.10.2019, In: CELL REP. 29, 4, p. 810-815.e4Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Allogeneic hematopoietic stem cell transplantation in two brothers with DNA ligase IV deficiency -a case report and review of the literature
Schober, S., Schilbach, K., Doering, M., Cabanillas Stanchi, K. M., Holzer, U., Kasteleiner, P., Schittenhelm, J., Schaefer, J. F., Müller, I., Lang, P. & Handgretinger, R., 11.10.2019, In: BMC PEDIATR. 19, 1, p. 346Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Shiga toxin signals via ATP and its effect is blocked by purinergic receptor antagonism
Johansson, K. E., Ståhl, A-L., Arvidsson, I., Loos, S., Tontanahal, A., Rebetz, J., Chromek, M., Kristoffersson, A-C., Johannes, L. & Karpman, D., 07.10.2019, In: SCI REP-UK. 9, 1, p. 14362Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Mice deficient in the lysosomal enzyme palmitoyl-protein thioesterase 1 (PPT1) display a complex retinal phenotype
Atiskova, Y., Bartsch, S., Danyukova, T., Becker, E., Hagel, C., Storch, S. & Bartsch, U., 02.10.2019, In: SCI REP-UK. 9, 1, p. 14185Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities
Karaca, E., Posey, J. E., Bostwick, B., Liu, P., Gezdirici, A., Yesil, G., Coban Akdemir, Z., Bayram, Y., Harms, F. L., Meinecke, P., Alawi, M., Bacino, C. A., Sutton, V. R., Kortüm, F. & Lupski, J. R., 10.2019, In: AM J MED GENET A. 179, 10, p. 2056-2066 11 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Correction to Ketogenic diet ameliorates axonal defects and promotes myelination in Pelizaeus-Merzbacher disease
Stumpf, S. K., Berghoff, S. A., Trevisiol, A., Spieth, L., Düking, T., Schneider, L. V., Schlaphoff, L., Dreha-Kulaczewski, S., Bley, A., Burfeind, D., Kusch, K., Mitkovski, M., Ruhwedel, T., Guder, P., Röhse, H., Denecke, J., Gärtner, J., Möbius, W., Nave, K-A. & Saher, G., 10.2019, In: ACTA NEUROPATHOL. 138, 4, p. 673-674 2 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research
Decidual immune cells: Guardians of human pregnancies
Solano, M. E., 10.2019, In: BEST PRACT RES CL OB. 60, p. 3-16 14 p.Research output: SCORING: Contribution to journal › SCORING: Review article › Research
Diagnosis, Therapy and Follow-up of Vaginal Cancer and Its Precursors. Guideline of the DGGG and the DKG (S2k-Level, AWMF Registry No. 032/042, October 2018)
Schnürch, H-G., Ackermann, S., Alt-Radtke, C. D., Angleitner, L., Barinoff, J., Beckmann, M. W., Böing, C., Dannecker, C., Fehm, T., Gaase, R., Gass, P., Gebhardt, M., Gieseking, F., Günthert, A., Hack, C. C., Hantschmann, P., Horn, L. C., Koch, M. C., Letsch, A., Mallmann, P., Mangold, B., Marnitz, S., Mehlhorn, G., Paradies, K., Reinhardt, M. J., Tholen, R., Torsten, U., Weikel, W., Wölber, L. & Hampl, M., 10.2019, In: GEBURTSH FRAUENHEILK. 79, 10, p. 1060-1078 19 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Impact of refugee influx on the epidemiology of late-presenting HIV-infected pregnant women and mother-to-child transmission: comparing a southern and northern medical centre in Germany
Singer, K., Schulze-Sturm, U., Alba-Alejandre, I., Hollwitz, B., Nguyen, T. T. T., Sollinger, F., Eberle, J., Hübner, J., Kobbe, R., Genzel-Boroviczény, O. & von Both, U., 10.2019, In: INFECTION. 47, 5, p. 847-852 6 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Impact on the hepatic flow velocity after pediatric combined liver-kidney transplantation compared to isolated pediatric liver transplantation-A matched-pair analysis
Hellenkemper, J. V., Grabhorn, E., Brinkert, F., Lenhartz, H., Herrmann, J., Fischer, L., Helmke, K. & Herden, U., 10.2019, In: CLIN TRANSPLANT. 33, 10, p. e13687Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
NUTM1 is a recurrent fusion gene partner in B cell precursor acute lymphoblastic leukemia associated with increased expression of genes on chromosome band 10p12.31-12.2
Hormann, F. M., Hoogkamer, A. Q., Beverloo, H. B., Boeree, A., Dingjan, I., Wattel, M. M., Stam, R. W., Escherich, G., Pieters, R., den Boer, M. L. & Boer, J. M., 10.2019, In: HAEMATOLOGICA. 104, 10, p. e455-e459Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
The International Hereditary Thrombotic Thrombocytopenic Purpura Registry: key findings at enrollment until 2017
van Dorland, H. A., Taleghani, M. M., Sakai, K., Friedman, K. D., George, J. N., Hrachovinova, I., Knöbl, P. N., von Krogh, A. S., Schneppenheim, R., Aebi-Huber, I., Bütikofer, L., Largiadèr, C. R., Cermakova, Z., Kokame, K., Miyata, T., Yagi, H., Terrell, D. R., Vesely, S. K., Matsumoto, M., Lämmle, B., Fujimura, Y., Kremer Hovinga, J. A. & Hereditary TTP Registry, 10.2019, In: HAEMATOLOGICA. 104, 10, p. 2107-2115 9 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review