Center for Obstetrics and Pediatrics
Publications
- 2016
NEK1 mutations in familial amyotrophic lateral sclerosis
Brenner, D., Müller, K., Wieland, T., Weydt, P., Böhm, S., Lulé, D., Hübers, A., Neuwirth, C., Weber, M., Borck, G., Wahlqvist, M., Danzer, K. M., Volk, A. E., Meitinger, T., Strom, T. M., Otto, M., Kassubek, J., Ludolph, A. C., Andersen, P. M. & Weishaupt, J. H., 01.05.2016, In: BRAIN. 139, Pt 5, p. e28Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Empfehlungen zur infektiologischen Versorgung von Flüchtlingen im Kindes- und Jugendalter in Deutschland: Stellungnahme der Deutschen Gesellschaft für Pädiatrische Infektiologie, der Gesellschaft für Tropenpädiatrie und Internationale Kindergesundheit und des Berufsverbandes der Kinder- und Jugendärzte
Pfeil, J., Kobbe, R., Trapp, S., Kitz, C. & Hufnagel, M., 05.2016, In: INTERNIST. 57, 5, p. 416-33 18 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
EZH2 mutation in an adolescent with Weaver syndrome developing acute myeloid leukemia and secondary hemophagocytic lymphohistiocytosis
Usemann, J., Ernst, T., Schäfer, V., Lehmberg, K. & Seeger, K., 05.2016, In: AM J MED GENET A. 170, 5, p. 1274-7 4 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Outcome of relapsed infant acute lymphoblastic leukemia treated on the interfant-99 protocol
Driessen, E. M. C., de Lorenzo, P., Campbell, M., Felice, M., Ferster, A., Hann, I., Vora, A., Hovi, L., Escherich, G., Li, C. K., Mann, G., Leblanc, T., Locatelli, F., Biondi, A., Rubnitz, J., Schrappe, M., Silverman, L., Stary, J., Suppiah, R., Szczepanski, T., Valsecchi, M. & Pieters, R., 05.2016, In: LEUKEMIA. 30, 5, p. 1184-1187Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Pathogenesis of minimal change nephrotic Syndrome: an immunological concept
Kim, S. H., Park, S. J., Han, K. H., Kronbichler, A., Saleem, M. A., Oh, J., Lim, B. J. & Shin, J. I., 05.2016, In: KOREAN J PEDIATR. 59, 5, p. 205-11 7 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Immunity and the Endocrine System
Stelzer, I. & Arck, P., 27.04.2016, Encyclopedia of Immunobiology. Ratcliffe, M. J. H. (ed.). 1 ed. Academic Pr Inc , Vol. 5: Physiology and Immune System Dysfunction. p. 73-85 13 p.Research output: SCORING: Contribution to book/anthology › SCORING: Contribution to collected editions/anthologies › Research › peer-review
The minimum required level of donor chimerism in hereditary hemophagocytic lymphohistiocytosis
Hartz, B., Marsh, R., Rao, K., Henter, J-I., Jordan, M., Filipovich, L., Bader, P., Beier, R., Burkhardt, B., Meisel, R., Schulz, A., Winkler, B., Albert, M. H., Greil, J., Karasu, G., Woessmann, W., Corbaciologlu, S., Gruhn, B., Holter, W., Kühl, J-S., Lang, P., Seidel, M. G., Veys, P., Löfstedt, A., Ammann, S., Ehl, S., Janka, G., Müller, I. & Lehmberg, K., 20.04.2016, In: BLOOD. 127, 25, p. 3281-90Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Rapid Diagnosis of an AT/RT by the Detection of a Heterozygous SMARCB1 Germ Line Deletion in an Infant
Kerl, K., Oyen, F., Giannikopoulou, D., Rössig, C., Rellensmann, G., Sandkötter, J., Brentrup, A., Selzer, G., Schneppenheim, R. & Frühwald, M. C., 19.04.2016, In: PEDIATR BLOOD CANCER. 63, 8, p. 1451-3Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Phenylketonuria: Direct and indirect effects of phenylalanine
Schlegel, G., Scholz, R., Ullrich, K., Santer, R. & Rune, G. M., 14.04.2016, In: EXP NEUROL. 281, p. 28-36 9 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Poorly differentiated chordoma with SMARCB1/INI1 loss: a distinct molecular entity with dismal prognosis
Hasselblatt, M., Thomas, C., Hovestadt, V., Schrimpf, D., Johann, P., Bens, S., Oyen, F., Peetz-Dienhart, S., Crede, Y., Wefers, A., Vogel, H., Riemenschneider, M. J., Antonelli, M., Giangaspero, F., Bernardo, M. C., Giannini, C., Ud Din, N., Perry, A., Keyvani, K., van Landeghem, F., Sumerauer, D., Hauser, P., Capper, D., Korshunov, A., Jones, D. T. W., Pfister, S. M., Schneppenheim, R., Siebert, R., Frühwald, M. C. & Kool, M., 11.04.2016, In: ACTA NEUROPATHOL. 132, 1, p. 149-51Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research
Risk stratification of childhood medulloblastoma in the molecular era: the current consensus
Ramaswamy, V., Remke, M., Bouffet, E., Bailey, S., Clifford, S. C., Doz, F., Kool, M., Dufour, C., Vassal, G., Milde, T., Witt, O., von Hoff, K., Pietsch, T., Northcott, P. A., Gajjar, A., Robinson, G. W., Padovani, L., André, N., Massimino, M., Pizer, B., Packer, R., Rutkowski, S., Pfister, S. M., Taylor, M. D. & Pomeroy, S. L., 04.04.2016, In: ACTA NEUROPATHOL. 131, 6, p. 821-31Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
The association of aberrant folylpolyglutamate synthetase splicing with ex vivo methotrexate resistance and clinical outcome in childhood acute lymphoblastic leukemia
Wojtuszkiewicz, A., Assaraf, Y. G., Hoekstra, M., Sciarrillo, R., Jansen, G., Peters, G. J., Pieters, R., Sonneveld, E., Escherich, G., Kaspers, G. J. L. & Cloos, J., 01.04.2016, In: HAEMATOLOGICA. 101, 7, p. e291-4Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research
Ethics and social acceptability of a proposed clinical trial using maternal gene therapy to treat severe early-onset fetal growth restriction
Sheppard, M., Spencer, R. N., Ashcroft, R., David, A. L. & EVERREST Consortium, 04.2016, In: ULTRASOUND OBST GYN. 47, 4, p. 484-91 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation
Kouz, K., Lissewski, C., Spranger, S., Mitter, D., Riess, A., Lopez-Gonzalez, V., Lüttgen, S., Aydin, H., von Deimling, F., Evers, C., Hahn, A., Hempel, M., Issa, U., Kahlert, A-K., Lieb, A., Villavicencio-Lorini, P., Ballesta-Martinez, M. J., Nampoothiri, S., Ovens-Raeder, A., Puchmajerová, A., Satanovskij, R., Seidel, H., Unkelbach, S., Zabel, B., Kutsche, K. & Zenker, M., 04.2016, In: GENET MED. 18, 12, p. 1226-1234Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Nephrin Contributes to Insulin Secretion and Affects Mammalian Target of Rapamycin Signaling Independently of Insulin Receptor
Villarreal, R., Mitrofanova, A., Maiguel, D., Morales, X., Jeon, J., Grahammer, F., Leibiger, I. B., Guzman, J., Fachado, A., Yoo, T. H., Busher Katin, A., Gellermann, J., Merscher, S., Burke, G. W., Berggren, P-O., Oh, J., Huber, T. B. & Fornoni, A., 04.2016, In: J AM SOC NEPHROL. 27, 4, p. 1029-41 13 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Real-life effectiveness of canakinumab in cryopyrin-associated periodic syndrome
Kuemmerle-Deschner, J. B., Hofer, F., Endres, T., Kortus-Goetze, B., Blank, N., Weißbarth-Riedel, E., Schuetz, C., Kallinich, T., Krause, K., Rietschel, C., Horneff, G. & Benseler, S. M., 04.2016, In: RHEUMATOLOGY. 55, 4, p. 689-96 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Major cell biological parameters of keratinocytes are predetermined by culture medium and donor source
Zorn-Kruppa, M., Volksdorf, T., Ueck, C., Zöller, E., Reinshagen, K., Ridderbusch, I., Bruning, G., Houdek, P., Moll, I. & Brandner, J. M., 25.03.2016, In: EXP DERMATOL. 25, 3, p. 242-4Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Rapid Capture Next-Generation Sequencing in Clinical Diagnostics of Kinase Pathway Aberrations in B-Cell Precursor ALL
Stadt, U. Z., Escherich, G., Indenbirken, D., Alawi, M., Adao, M. & Horstmann, M. A., 23.03.2016, In: PEDIATR BLOOD CANCER. 63, 7, p. 1283-6Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research
Influence of Cranial Radiotherapy on Outcome in Children With Acute Lymphoblastic Leukemia Treated With Contemporary Therapy
Vora, A., Andreano, A., Pui, C-H., Hunger, S. P., Schrappe, M., Moericke, A., Biondi, A., Escherich, G., Silverman, L. B., Goulden, N., Taskinen, M., Pieters, R., Horibe, K., Devidas, M., Locatelli, F. & Valsecchi, M. G., 20.03.2016, In: J CLIN ONCOL. 34, 9, p. 919-26 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Atypical Teratoid/Rhabdoid Tumors Are Comprised of Three Epigenetic Subgroups with Distinct Enhancer Landscapes
Johann, P. D., Erkek, S., Zapatka, M., Kerl, K., Buchhalter, I., Hovestadt, V., Jones, D. T. W., Sturm, D., Hermann, C., Segura Wang, M., Korshunov, A., Rhyzova, M., Gröbner, S., Brabetz, S., Chavez, L., Bens, S., Gröschel, S., Kratochwil, F., Wittmann, A., Sieber, L., Geörg, C., Wolf, S., Beck, K., Oyen, F., Capper, D., van Sluis, P., Volckmann, R., Koster, J., Versteeg, R., von Deimling, A., Milde, T., Witt, O., Kulozik, A. E., Ebinger, M., Shalaby, T., Grotzer, M., Sumerauer, D., Zamecnik, J., Mora, J., Jabado, N., Taylor, M. D., Huang, A., Aronica, E., Bertoni, A., Radlwimmer, B., Pietsch, T., Schüller, U., Schneppenheim, R., Northcott, P. A., Korbel, J. O., Siebert, R., Frühwald, M. C., Lichter, P., Eils, R., Gajjar, A., Hasselblatt, M., Pfister, S. M. & Kool, M., 14.03.2016, In: CANCER CELL. 29, 3, p. 379-93 15 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Differential mouse-strain specific expression of Junctional Adhesion Molecule (JAM)-B in placental structures
Stelzer, I. A., DeMayo, F., Lydon, J., Arck, P. C. & Solano, M. E., 03.03.2016, In: CELL ADHES MIGR. 10, 1-2, p. 2-17 16 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
von Willebrand factor is dimerized by protein disulfide isomerase
Lippok, S., Kolšek, K., Löf, A., Eggert, D., Vanderlinden, W., Müller, J. P., König, G., Obser, T., Röhrs, K., Schneppenheim, S., Budde, U., Baldauf, C., Aponte-Santamaría, C., Gräter, F., Schneppenheim, R., Rädler, J. O. & Brehm, M. A., 03.03.2016, In: BLOOD. 127, 9, p. 1183-91 9 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Progranulin as a candidate biomarker for therapeutic trial in patients with ALS and FTLD
Feneberg, E., Steinacker, P., Volk, A. E., Weishaupt, J. H., Wollmer, M. A., Boxer, A., Tumani, H., Ludolph, A. C. & Otto, M., 01.03.2016, In: J NEURAL TRANSM. 123, 3, p. 289-96Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Topical Timolol: Evidence for Efficacy and Degree of Systemic Absorption
Weibel, L., Barysch, M. J., Scheer, H. S., Königs, I., Neuhaus, K., Schiestl, C., Rentsch, K., Müller, D. M. & Theiler, M., 01.03.2016, In: PEDIATR DERMATOL. 33, 2, p. 184-90Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
2016 Classification Criteria for Macrophage Activation Syndrome Complicating Systemic Juvenile Idiopathic Arthritis: A European League Against Rheumatism/American College of Rheumatology/Paediatric Rheumatology International Trials Organisation Collaborative Initiative
Ravelli, A., Minoia, F., Davì, S., Horne, A., Bovis, F., Pistorio, A., Aricò, M., Avcin, T., Behrens, E. M., De Benedetti, F., Filipovic, L., Grom, A. A., Henter, J-I., Ilowite, N. T., Jordan, M. B., Khubchandani, R., Kitoh, T., Lehmberg, K., Lovell, D. J., Miettunen, P., Nichols, K. E., Ozen, S., Pachlopnik Schmid, J., Ramanan, A. V., Russo, R., Schneider, R., Sterba, G., Uziel, Y., Wallace, C., Wouters, C., Wulffraat, N., Demirkaya, E., Brunner, H. I., Martini, A., Ruperto, N., Cron, R. Q. & Paediatric Rheumatology International Trials Organisation, the Childhood Arthritis and Rheumatology Research Alliance, the Pediatric Rheumatology Collaborative Study Group, and the Histiocyte Society, 03.2016, In: ANN RHEUM DIS. 75, 3, p. 481-9 9 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Consensus expert recommendations for identification and management of asparaginase hypersensitivity and silent inactivation
van der Sluis, I. M., Vrooman, L. M., Pieters, R., Baruchel, A., Escherich, G., Goulden, N., Mondelaers, V., de Toledo, J. S., Rizzari, C., Silverman, L. B. & Whitlock, J. A., 03.2016, In: HAEMATOLOGICA. 101, 3, p. 279-85 7 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Identification of suitable reference genes in the mouse placenta
Solano, M. E., Thiele, K., Kowal, M. K. & Arck, P. C., 03.2016, In: PLACENTA. 39, p. 7-15 9 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Impact of Everolimus and Low-Dose Cyclosporin on Cytomegalovirus Replication and Disease in Pediatric Renal Transplantation
Höcker, B., Zencke, S., Pape, L., Krupka, K., Köster, L., Fichtner, A., Dello Strologo, L., Guzzo, I., Topaloglu, R., Kranz, B., König, J., Bald, M., Webb, N. J. A., Noyan, A., Dursun, H., Marks, S., Ozcakar, Z. B., Thiel, F., Billing, H., Pohl, M., Fehrenbach, H., Schnitzler, P., Bruckner, T., Ahlenstiel-Grunow, T. & Tönshoff, B., 03.2016, In: AM J TRANSPLANT. 16, 3, p. 921-9 9 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Mitral valve prolapse syndrome and MASS phenotype: Stability of aortic dilatation but progression of mitral valve prolapse
Rippe, M., De Backer, J., Kutsche, K., Mosquera, L. M., Schüler, H., Rybczynski, M., Bernhardt, A. M., Keyser, B., Hillebrand, M., Mir, T. S., Berger, J., Blankenberg, S., Koschyk, D. & von Kodolitsch, Y., 03.2016, In: IJC HEART VASC. 10, p. 39–46 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Reply to letter that comments on 'Intraventricular methotrexate as part of primary therapy for children with infant and/or metastatic medulloblastoma: Feasibility, acute toxicity and evidence for efficacy'
Pompe, R. S., von Bueren, A. O., Mynarek, M., von Hoff, K. & Rutkowski, S., 03.2016, In: EUR J CANCER. 56, p. 181-2 2 p.Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research
Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome
Ammann, S., Schulz, A., Krägeloh-Mann, I., Dieckmann, N. M. G., Niethammer, K., Fuchs, S., Eckl, K. M., Plank, R., Werner, R., Altmüller, J., Thiele, H., Nürnberg, P., Bank, J., Strauss, A., von Bernuth, H., Zur Stadt, U., Grieve, S., Griffiths, G. M., Lehmberg, K., Hennies, H. C. & Ehl, S., 25.02.2016, In: BLOOD. 127, 8, p. 997-1006 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
New Brain Tumor Entities Emerge from Molecular Classification of CNS-PNETs
Sturm, D., Orr, B. A., Toprak, U. H., Hovestadt, V., Jones, D. T. W., Capper, D., Sill, M., Buchhalter, I., Northcott, P. A., Leis, I., Ryzhova, M., Koelsche, C., Pfaff, E., Allen, S. J., Balasubramanian, G., Worst, B. C., Pajtler, K. W., Brabetz, S., Johann, P. D., Sahm, F., Reimand, J., Mackay, A., Carvalho, D. M., Remke, M., Phillips, J. J., Perry, A., Cowdrey, C., Drissi, R., Fouladi, M., Giangaspero, F., Łastowska, M., Grajkowska, W., Scheurlen, W., Pietsch, T., Hagel, C., Gojo, J., Lötsch, D., Berger, W., Slavc, I., Haberler, C., Jouvet, A., Holm, S., Hofer, S., Prinz, M., Keohane, C., Fried, I., Mawrin, C., Scheie, D., Mobley, B. C., Schniederjan, M. J., Santi, M., Buccoliero, A. M., Dahiya, S., Kramm, C. M., von Bueren, A. O., von Hoff, K., Rutkowski, S., Herold-Mende, C., Frühwald, M. C., Milde, T., Hasselblatt, M., Wesseling, P., Rößler, J., Schüller, U., Ebinger, M., Schittenhelm, J., Frank, S., Grobholz, R., Vajtai, I., Hans, V., Schneppenheim, R., Zitterbart, K., Collins, V. P., Aronica, E., Varlet, P., Puget, S., Dufour, C., Grill, J., Figarella-Branger, D., Wolter, M., Schuhmann, M. U., Shalaby, T., Grotzer, M., van Meter, T., Monoranu, C-M., Felsberg, J., Reifenberger, G., Snuderl, M., Forrester, L. A., Koster, J., Versteeg, R., Volckmann, R., van Sluis, P., Wolf, S., Mikkelsen, T., Gajjar, A., Aldape, K., Moore, A. S., Taylor, M. D., Jones, C., Jabado, N., Karajannis, M. A., Eils, R., Schlesner, M., Lichter, P., von Deimling, A., Pfister, S. M., Ellison, D. W., Korshunov, A. & Kool, M., 25.02.2016, In: CELL. 164, 5, p. 1060-72 13 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Comparative analyses on expression of galectins1-4, 7-10 and 12 in first trimester placenta, decidua and isolated trophoblast cells in vitro
Unverdorben, L., Jeschke, U., Santoso, L., Hofmann, S., Kuhn, C., Arck, P. & Hutter, S., 22.02.2016, In: HISTOL HISTOPATHOL. 31, 10, p. 1095-1111Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders
Jamiolkowski, D., Kölker, S., Glahn, E. M., Barić, I., Zeman, J., Baumgartner, M. R., Mühlhausen, C., Garcia-Cazorla, A., Gleich, F., Haege, G., Burgard, P. & E-IMD consortium, 18.02.2016, In: J INHERIT METAB DIS. 39, 2, p. 231-241Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Lysosomal dysfunction and impaired autophagy in a novel mouse model deficient for the lysosomal membrane protein Cln7
Brandenstein, L., Schweizer, M., Sedlacik, J., Fiehler, J. & Storch, S., 15.02.2016, In: HUM MOL GENET. 25, 4, p. 777-91Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy
Kremer, L. S., Distelmaier, F., Alhaddad, B., Hempel, M., Iuso, A., Küpper, C., Mühlhausen, C., Kovacs-Nagy, R., Satanovskij, R., Graf, E., Berutti, R., Eckstein, G., Durbin, R., Sauer, S., Hoffmann, G. F., Strom, T. M., Santer, R., Meitinger, T., Klopstock, T., Prokisch, H. & Haack, T. B., 04.02.2016, In: AM J HUM GENET. 98, p. 358-362Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Cardiovascular biomarkers in paired maternal and umbilical cord blood samples at term and near term delivery
Blohm, M. E., Arndt, F., Sandig, J., Diehl, W., Zeller, T., Mueller, G. C., Schlesner, C., Mir, T. S., Blankenberg, S., Hecher, K., Singer, D. & Weil, J., 03.02.2016, In: EARLY HUM DEV. 94, p. 7-12 6 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Force sensing by the vascular protein von Willebrand factor is tuned by a strong intermonomer interaction
Müller, J. P., Mielke, S., Löf, A., Obser, T., Beer, C., Bruetzel, L. K., Pippig, D. A., Vanderlinden, W., Lipfert, J., Schneppenheim, R. & Benoit, M., 02.02.2016, In: P NATL ACAD SCI USA. 113, 5, p. 1208-13 6 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Shear-Induced Unfolding and Enzymatic Cleavage of Full-Length VWF Multimers
Lippok, S., Radtke, M., Obser, T., Kleemeier, L., Schneppenheim, R., Budde, U., Netz, R. R. & Rädler, J. O., 02.02.2016, In: BIOPHYS J. 110, 3, p. 545-54 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Modulation of Thrombosis Significantly Reduces Testicular Damage after Testicular Torsion in Rats: Anti-Thrombotic Treatment and Testicular Torsion
Boettcher, M., Fuchs, T. A., Schäfer, H., Appl, B., Trochimiuk, M., Jiménez-Alcázar, M., Tiemann, B., Jung, R., Bergholz, R., Reinshagen, K. & Eschenburg, G., 01.02.2016, In: UROLOGY. 88, 227, p. e1-7Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Bile salt export pump-reactive antibodies form a polyclonal, multi-inhibitory response in antibody-induced bile salt export pump deficiency
Stindt, J., Kluge, S., Dröge, C., Keitel, V., Stross, C., Baumann, U., Brinkert, F., Dhawan, A., Engelmann, G., Ganschow, R., Gerner, P., Grabhorn, E., Knisely, A. S., Noli, K. A., Pukite, I., Shepherd, R. W., Ueno, T., Schmitt, L., Wiek, C., Hanenberg, H., Häussinger, D. & Kubitz, R., 02.2016, In: HEPATOLOGY. 63, 2, p. 524-37 14 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Diagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region: survey results: survey results
Giżewska, M., MacDonald, A., Bélanger-Quintana, A., Burlina, A., Cleary, M., Coşkun, T., Feillet, F., Muntau, A. C., Trefz, F. K., van Spronsen, F. J. & Blau, N., 02.2016, In: EUR J PEDIATR. 175, 2, p. 261-72 12 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Epidermal growth factor receptor overexpression is common and not correlated to gene copy number in ependymoma
Friedrich, C., von Bueren, A. O., Kolevatova, L., Bernreuther, C., Grob, T., Sepulveda-Falla, D., van den Boom, L., Westphal, M., Simon, R. & Glatzel, M., 02.2016, In: CHILD NERV SYST. 32, 2, p. 281-90Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice
Spielmann, M., Kakar, N., Tayebi, N., Leettola, C., Nürnberg, G., Sowada, N., Lupiáñez, D. G., Harabula, I., Flöttmann, R., Horn, D., Chan, W. L., Wittler, L., Yilmaz, R., Altmüller, J., Thiele, H., van Bokhoven, H., Schwartz, C. E., Nürnberg, P., Bowie, J. U., Ahmad, J., Kubisch, C., Mundlos, S. & Borck, G., 02.2016, In: GENOME RES. 26, 2, p. 183-91 9 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Fetal thymus size in human pregnancies reveals inverse association with regulatory T cell frequencies in cord blood
Diemert, A., Hartwig, I., Pagenkemper, M., Mehnert, R., Hansen, G., Tolosa, E., Hecher, K. & Arck, P., 02.2016, In: J REPROD IMMUNOL. 113, p. 76-82 7 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Influence of hypoxia-dependent factors on the progression of neuroblastoma
Ameis, H. M., Drenckhan, A., Freytag, M., Izbicki, J. R., Supuran, C. T., Reinshagen, K., Holland-Cunz, S. & Gros, S. J., 02.2016, In: PEDIATR SURG INT. 32, 2, p. 187-92 6 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
ISUOG Practice Guidelines: role of ultrasound in twin pregnancy
Khalil, A., Rodgers, M., Baschat, A., Bhide, A., Gratacos, E., Hecher, K., Kilby, M. D., Lewi, L., Nicolaides, K. H., Oepkes, D., Raine-Fenning, N., Reed, K., Salomon, L. J., Sotiriadis, A., Thilaganathan, B. & Ville, Y., 02.2016, In: ULTRASOUND OBST GYN. 47, 2, p. 247-63 17 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Significant prevalence of sickle cell disease in Southwest Germany: results from a birth cohort study indicate the necessity for newborn screening
Kunz, J. B., Awad, S., Happich, M., Muckenthaler, L., Lindner, M., Gramer, G., Okun, J. G., Hoffmann, G. F., Bruckner, T., Muckenthaler, M. U. & Kulozik, A. E., 02.2016, In: ANN HEMATOL. 95, 3, p. 397-402 6 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Single-chain antibody-fragment M6P-1 possesses a mannose 6-phosphate monosaccharide-specific binding pocket that distinguishes N-glycan phosphorylation in a branch-specific manner
Blackler, R. J., Evans, D. W., Smith, D. F., Cummings, R. D., Brooks, C. L., Braulke, T., Liu, X., Evans, S. V. & Müller-Loennies, S., 02.2016, In: GLYCOBIOLOGY. 26, 2, p. 181-192Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
A zebrafish melanoma model reveals emergence of neural crest identity during melanoma initiation
Kaufman, C. K., Mosimann, C., Fan, Z. P., Yang, S., Thomas, A. J., Ablain, J., Tan, J. L., Fogley, R. D., van Rooijen, E., Hagedorn, E. J., Ciarlo, C., White, R. M., Matos, D. A., Puller, A-C., Santoriello, C., Liao, E. C., Young, R. A. & Zon, L. I., 29.01.2016, In: SCIENCE. 351, 6272, p. aad2197Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review