Center for Obstetrics and Pediatrics

Publications

  1. 2016
  2. 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. e28

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  3. 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 journalSCORING: Journal articleResearchpeer-review

  4. 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. 1184-1187

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  5. 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 journalSCORING: Journal articleResearchpeer-review

  6. 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/anthologySCORING: Contribution to collected editions/anthologiesResearchpeer-review

  7. 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. 3281-90

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  8. 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. 1451-3

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  9. 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 journalSCORING: Journal articleResearchpeer-review

  10. 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. 149-51

    Research output: SCORING: Contribution to journalOther (editorial matter etc.)Research

  11. 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. 821-31

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  12. 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. e291-4

    Research output: SCORING: Contribution to journalOther (editorial matter etc.)Research

  13. 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 journalSCORING: Journal articleResearchpeer-review

  14. 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. 1226-1234

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  15. 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 journalSCORING: Journal articleResearchpeer-review

  16. 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 journalSCORING: Journal articleResearchpeer-review

  17. 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. 242-4

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  18. 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. 1283-6

    Research output: SCORING: Contribution to journalOther (editorial matter etc.)Research

  19. 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 journalSCORING: Journal articleResearchpeer-review

  20. 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 journalSCORING: Journal articleResearchpeer-review

  21. 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 journalSCORING: Journal articleResearchpeer-review

  22. 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 journalSCORING: Journal articleResearchpeer-review

  23. 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. 289-96

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  24. 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. 184-90

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  25. 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 journalSCORING: Journal articleResearchpeer-review

  26. 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 journalSCORING: Journal articleResearchpeer-review

  27. 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 journalSCORING: Journal articleResearchpeer-review

  28. 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 journalSCORING: Journal articleResearchpeer-review

  29. 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 journalSCORING: Journal articleResearchpeer-review

  30. 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 journalOther (editorial matter etc.)Research

  31. 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 journalSCORING: Journal articleResearchpeer-review

  32. 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 journalSCORING: Journal articleResearchpeer-review

  33. 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. 1095-1111

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  34. 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. 231-241

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  35. 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. 777-91

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  36. 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. 358-362

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  37. 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 journalSCORING: Journal articleResearchpeer-review

  38. 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 journalSCORING: Journal articleResearchpeer-review

  39. 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 journalSCORING: Journal articleResearchpeer-review

  40. 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. e1-7

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  41. 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 journalSCORING: Journal articleResearchpeer-review

  42. 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 journalSCORING: Journal articleResearchpeer-review

  43. 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. 281-90

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  44. 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 journalSCORING: Journal articleResearchpeer-review

  45. 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 journalSCORING: Journal articleResearchpeer-review

  46. 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 journalSCORING: Journal articleResearchpeer-review

  47. 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 journalSCORING: Journal articleResearchpeer-review

  48. 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 journalSCORING: Journal articleResearchpeer-review

  49. 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. 181-192

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review

  50. 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. aad2197

    Research output: SCORING: Contribution to journalSCORING: Journal articleResearchpeer-review