Research ExplorerResearch UnitsCenter for Obstetrics and Pediatrics Publications

Center for Obstetrics and Pediatrics

1751 - 1800 out of 4,516Page size: 50

Publications

  1. 2017

  2. Effect of patent ductus arteriosus and patent foramen ovale on left ventricular stroke volume measurement by electrical velocimetry in comparison to transthoracic echocardiography in neonates

    Blohm, M. E., Hartwich, J., Obrecht, D., Kersten, J. F. & Singer, D., 06.2017, In: J CLIN MONIT COMPUT. 31, 3, p. 589-598

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

  3. Health-related quality of life after combined liver and kidney transplantation in children

    Schmaeschke, K., Lezius, S., Grabhorn, E., Kemper, M. J. & Brinkert, F., 06.2017, In: PEDIATR TRANSPLANT. 21, 4, p. e12902

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

  4. How to monitor pregnancies complicated by fetal growth restriction and delivery before 32 weeks: post-hoc analysis of TRUFFLE study

    Ganzevoort, W., Mensing Van Charante, N., Thilaganathan, B., Prefumo, F., Arabin, B., Bilardo, C. M., Brezinka, C., Derks, J. B., Diemert, A., Duvekot, J. J., Ferrazzi, E., Frusca, T., Hecher, K., Marlow, N., Martinelli, P., Ostermayer, E., Papageorghiou, A. T., Schlembach, D., Schneider, K. T. M., Todros, T., Valcamonico, A., Visser, G. H. A., Van Wassenaer-Leemhuis, A., Lees, C. C., Wolf, H. & TRUFFLE Group, 06.2017, In: ULTRASOUND OBST GYN. 49, 6, p. 769-777 9 p.

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

  5. Maternal progesterone levels are modulated by maternal BMI and predict birth weight sex-specifically in human pregnancies

    Diemert, A., Goletzke, J., Barkmann, C., Jung, R., Hecher, K. & Arck, P., 06.2017, In: J REPROD IMMUNOL. 121, p. 49-55 7 p.

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

  6. Radiomic Analysis Reveals Prognostic Information in T1-Weighted Baseline Magnetic Resonance Imaging in Patients With Glioblastoma

    Ingrisch, M., Schneider, M. J., Nörenberg, D., Negrao de Figueiredo, G., Maier-Hein, K., Suchorska, B., Schüller, U., Albert, N., Brückmann, H., Reiser, M., Tonn, J-C. & Ertl-Wagner, B., 06.2017, In: INVEST RADIOL. 52, 6, p. 360-366

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

  7. Similar but not the same: Differential diagnosis of HLH and sepsis

    Machowicz, R., Janka, G. & Wiktor-Jedrzejczak, W., 06.2017, In: CRIT REV ONCOL HEMAT. 114, p. 1-12 12 p.

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

  8. Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

    Wolff, M., Johannesen, K. M., Hedrich, U. B. S., Masnada, S., Rubboli, G., Gardella, E., Lesca, G., Ville, D., Milh, M., Villard, L., Afenjar, A., Chantot-Bastaraud, S., Mignot, C., Lardennois, C., Nava, C., Schwarz, N., Gérard, M., Perrin, L., Doummar, D., Auvin, S., Miranda, M. J., Hempel, M., Brilstra, E., Knoers, N., Verbeek, N., van Kempen, M., Braun, K. P., Mancini, G., Biskup, S., Hörtnagel, K., Döcker, M., Bast, T., Loddenkemper, T., Wong-Kisiel, L., Baumeister, F. M., Fazeli, W., Striano, P., Dilena, R., Fontana, E., Zara, F., Kurlemann, G., Klepper, J., Thoene, J. G., Arndt, D. H., Deconinck, N., Schmitt-Mechelke, T., Maier, O., Muhle, H., Wical, B., Finetti, C., Brückner, R., Pietz, J., Golla, G., Jillella, D., Linnet, K. M., Charles, P., Moog, U., Õiglane-Shlik, E., Mantovani, J. F., Park, K., Deprez, M., Lederer, D., Mary, S., Scalais, E., Selim, L., Van Coster, R., Lagae, L., Nikanorova, M., Hjalgrim, H., Korenke, G. C., Trivisano, M., Specchio, N., Ceulemans, B., Dorn, T., Helbig, K. L., Hardies, K., Stamberger, H., de Jonghe, P., Weckhuysen, S., Lemke, J. R., Krägeloh-Mann, I., Helbig, I., Kluger, G., Lerche, H. & Møller, R. S., 01.05.2017, In: BRAIN. 140, 5, p. 1316-1336 21 p.

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

  9. Application of ICP-MS and HPLC-ICP-MS for diagnosis and therapy of a severe intoxication with hexavalent chromium and inorganic arsenic

    Heitland, P., Blohm, M., Breuer, C., Brinkert, F., Achilles, E. G., Pukite, I. & Köster, H. D., 05.2017, In: J TRACE ELEM MED BIO. 41, p. 36-40 5 p.

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

  10. Functional monosomy of 6q27-qter and functional disomy of Xpter-p22.11 due to X;6 translocation with an atypical X-inactivation pattern

    Podolska, A., Kobelt, A., Fuchs, S., Hackmann, K., Rump, A., Schröck, E., Kutsche, K. & Di Donato, N., 05.2017, In: AM J MED GENET A. 173, 5, p. 1334-1341

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

  11. Hypereosinophilic Syndrome After Liver Transplantation: A Case Report and a Review of the Literature

    Aulbert, W., Kobbe, R., Breuer, C., Briem-Richter, A., Schäfer, H., Brinkert, F., Dettmar, A., Kemper, M. J. & Grabhorn, E., 05.2017, In: TRANSPLANTATION. 101, 5, p. e166-e169

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

  12. Is middle cerebral artery Doppler related to neonatal and 2-year infant outcome in early fetal growth restriction?

    Stampalija, T., Arabin, B., Wolf, H., Bilardo, C. M., Lees, C. & TRUFFLE Group, 05.2017, In: AM J OBSTET GYNECOL. 216, 5, p. 521.e1-521.e13

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

  13. Spatial heterogeneity in medulloblastoma

    Morrissy, A. S., Cavalli, F. M. G., Remke, M., Ramaswamy, V., Shih, D. J. H., Holgado, B. L., Farooq, H., Donovan, L. K., Garzia, L., Agnihotri, S., Kiehna, E. N., Mercier, E., Mayoh, C., Papillon-Cavanagh, S., Nikbakht, H., Gayden, T., Torchia, J., Picard, D., Merino, D. M., Vladoiu, M., Luu, B., Wu, X., Daniels, C., Horswell, S., Thompson, Y. Y., Hovestadt, V., Northcott, P. A., Jones, D. T. W., Peacock, J., Wang, X., Mack, S. C., Reimand, J., Albrecht, S., Fontebasso, A. M., Thiessen, N., Li, Y., Schein, J. E., Lee, D., Carlsen, R., Mayo, M., Tse, K., Tam, A., Dhalla, N., Ally, A., Chuah, E., Cheng, Y., Plettner, P., Li, H. I., Corbett, R. D., Wong, T., Long, W., Loukides, J., Buczkowicz, P., Hawkins, C. E., Tabori, U., Rood, B. R., Myseros, J. S., Packer, R. J., Korshunov, A., Lichter, P., Kool, M., Pfister, S. M., Schüller, U., Dirks, P. B., Huang, A., Bouffet, E., Rutka, J. T., Bader, G. D., Swanton, C., Ma, Y., Moore, R. A., Mungall, A. J., Majewski, J., Jones, S. J. M., Das, S., Malkin, D., Jabado, N., Marra, M. A. & Taylor, M. D., 05.2017, In: NAT GENET. 49, 5, p. 780-788 9 p.

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

  14. Evaluation of age-dependent treatment strategies for children and young adults with pineoblastoma: analysis of pooled European Society for Paediatric Oncology (SIOP-E) and US Head Start data

    Mynarek, M., Pizer, B., Dufour, C., van Vuurden, D., Garami, M., Massimino, M., Fangusaro, J., Davidson, T., Gil-da-Costa, M. J., Sterba, J., Benesch, M., Gerber, N., Juhnke, B. O., Kwiecien, R., Pietsch, T., Kool, M., Clifford, S., Ellison, D. W., Giangaspero, F., Wesseling, P., Gilles, F., Gottardo, N., Finlay, J. L., Rutkowski, S. & von Hoff, K., 01.04.2017, In: NEURO-ONCOLOGY. 19, 4, p. 576-585

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

  15. Akutes Nierenversagen bei Urachuszyste?

    Klaassen, I., Wolf, M., Kemper, M. J., Riechardt, S., Boettcher, M., Herrmann, J. & Singer, D., 04.2017, In: Z GEBURTSH NEONATOL. 221, 2, p. 88-91

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

  16. Childhood cancer predisposition syndromes-A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology

    Ripperger, T., Bielack, S. S., Borkhardt, A., Brecht, I. B., Burkhardt, B., Calaminus, G., Debatin, K-M., Deubzer, H., Dirksen, U., Eckert, C., Eggert, A., Erlacher, M., Fleischhack, G., Frühwald, M. C., Gnekow, A., Goehring, G., Graf, N., Hanenberg, H., Hauer, J., Hero, B., Hettmer, S., von Hoff, K., Horstmann, M., Hoyer, J., Illig, T., Kaatsch, P., Kappler, R., Kerl, K., Klingebiel, T., Kontny, U., Kordes, U., Körholz, D., Koscielniak, E., Kramm, C. M., Kuhlen, M., Kulozik, A. E., Lamottke, B., Leuschner, I., Lohmann, D. R., Meinhardt, A., Metzler, M., Meyer, L. H., Moser, O., Nathrath, M., Niemeyer, C. M., Nustede, R., Pajtler, K. W., Paret, C., Rasche, M., Reinhardt, D., Rieß, O., Russo, A., Rutkowski, S., Schlegelberger, B., Schneider, D., Schneppenheim, R., Schrappe, M., Schroeder, C., von Schweinitz, D., Simon, T., Sparber-Sauer, M., Spix, C., Stanulla, M., Steinemann, D., Strahm, B., Temming, P., Thomay, K., von Bueren, A. O., Vorwerk, P., Witt, O., Wlodarski, M., Wössmann, W., Zenker, M., Zimmermann, S., Pfister, S. M. & Kratz, C. P., 04.2017, In: AM J MED GENET A. 173, 4, p. 1017-1037 21 p.

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

  17. Ex Vivo Assessment of Coronary Atherosclerotic Plaque by Grating-Based Phase-Contrast Computed Tomography: Correlation With Optical Coherence Tomography

    Habbel, C., Hetterich, H., Willner, M., Herzen, J., Steigerwald, K., Auweter, S., Schüller, U., Hausleiter, J., Massberg, S., Reiser, M., Pfeiffer, F., Saam, T. & Bamberg, F., 04.2017, In: INVEST RADIOL. 52, 4, p. 223-231

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

  18. Management Strategies for CLN2 Disease

    Williams, R. E., Adams, H. R., Blohm, M., Cohen-Pfeffer, J. L., de Los Reyes, E., Denecke, J., Drago, K., Fairhurst, C., Frazier, M., Guelbert, N., Kiss, S., Kofler, A., Lawson, J. A., Lehwald, L., Leung, M-A., Mikhaylova, S., Mink, J. W., Nickel, M., Shediac, R., Sims, K., Specchio, N., Topcu, M., von Löbbecke, I., West, A., Zernikow, B. & Schulz, A., 04.2017, In: PEDIATR NEUROL. 69, p. 102-112 11 p.

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

  19. Newborn screening for remethylation disorders and vitamin B12 deficiency-evaluation of new strategies in cohorts from Qatar and Germany

    Gramer, G., Abdoh, G., Ben-Omran, T., Shahbeck, N., Ali, R., Mahmoud, L., Fang-Hoffmann, J., Hoffmann, G. F., Al Rifai, H. & Okun, J. G., 04.2017, In: WORLD J PEDIATR. 13, 2, p. 136-143 8 p.

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

  20. SHANK proteins limit integrin activation by directly interacting with Rap1 and R-Ras

    Lilja, J., Zacharchenko, T., Georgiadou, M., Jacquemet, G., Franceschi, N. D., Peuhu, E., Hamidi, H., Pouwels, J., Martens, V., Nia, F. H., Beifuss, M., Boeckers, T. M., Kreienkamp, H-J., Barsukov, I. L. & Ivaska, J., 04.2017, In: NAT CELL BIOL. 19, 4, p. 292-305 14 p.

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

  21. Lessons learned from additional research analyses of unsolved clinical exome cases

    Eldomery, M. K., Coban-Akdemir, Z., Harel, T., Rosenfeld, J. A., Gambin, T., Stray-Pedersen, A., Küry, S., Mercier, S., Lessel, D., Denecke, J., Wiszniewski, W., Penney, S., Liu, P., Bi, W., Lalani, S. R., Schaaf, C. P., Wangler, M. F., Bacino, C. A., Lewis, R. A., Potocki, L., Graham, B. H., Belmont, J. W., Scaglia, F., Orange, J. S., Jhangiani, S. N., Chiang, T., Doddapaneni, H., Hu, J., Muzny, D. M., Xia, F., Beaudet, A. L., Boerwinkle, E., Eng, C. M., Plon, S. E., Sutton, V. R., Gibbs, R. A., Posey, J. E., Yang, Y. & Lupski, J. R., 21.03.2017, In: GENOME MED. 9, 1, p. 26

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

  22. Case report - atypical hemolytic uremic syndrome triggered by influenza B

    Kobbe, R., Schild, R., Christner, M., Oh, J., Loos, S. & Kemper, M. J., 20.03.2017, In: BMC NEPHROL. 18, 1, p. 96

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

  23. TP53-based interaction analysis identifies cis-eQTL variants for TP53BP2, FBXO28, and FAM53A that associate with survival and treatment outcome in breast cancer

    Fagerholm, R., Khan, S., Schmidt, M. K., García-Closas, M., Heikkilä, P., Saarela, J., Beesley, J., Jamshidi, M., Aittomäki, K., Liu, J., Ali, H. R., Andrulis, I. L., Beckmann, M. W., Behrens, S., Blows, F. M., Brenner, H., Chang-Claude, J., Couch, F. J., Czene, K., Fasching, P. A., Figueroa, J., Floris, G., Glendon, G., Guo, Q., Hall, P., Hallberg, E., Hamann, U., Holleczek, B., Hooning, M. J., Hopper, J. L., Jager, A., Kabisch, M., Keeman, R., Kosma, V-M., Lambrechts, D., Lindblom, A., Mannermaa, A., Margolin, S., Provenzano, E., Shah, M., Southey, M. C., Dennis, J., Lush, M., Michailidou, K., Wang, Q., Bolla, M. K., Dunning, A. M., Easton, D. F., Pharoah, P. P. D., Chenevix-Trench, G., Blomqvist, C., Nevanlinna, H. & kConFab/AOCS Investigators, 14.03.2017, In: ONCOTARGET. 8, 11, p. 18381-18398 18 p.

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

  24. Efficacy, safety and population pharmacokinetics of sapropterin in PKU patients <4 years: results from the SPARK open-label, multicentre, randomized phase IIIb trial

    Muntau, A. C., Burlina, A., Eyskens, F., Freisinger, P., De Laet, C., Leuzzi, V., Rutsch, F., Sivri, H. S., Vijay, S., Bal, M. O., Gramer, G., Pazdírková, R., Cleary, M., Lotz-Havla, A. S., Munafo, A., Mould, D. R., Moreau-Stucker, F. & Rogoff, D., 09.03.2017, In: ORPHANET J RARE DIS. 12, 1, p. 47

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

  25. Pregnancy-Related Immune Adaptation Promotes the Emergence of Highly Virulent H1N1 Influenza Virus Strains in Allogenically Pregnant Mice

    Engels, G., Hierweger, A. M., Hoffmann, J., Thieme, R., Thiele, S., Bertram, S., Dreier, C., Resa-Infante, P., Jacobsen, H., Thiele, K., Alawi, M., Indenbirken, D., Grundhoff, A., Siebels, S., Fischer, N., Stojanovska, V., Muzzio, D., Jensen, F., Karimi, K., Mittrücker, H-W., Arck, P. C. & Gabriel, G., 08.03.2017, In: CELL HOST MICROBE. 21, 3, p. 321-333 13 p.

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

  26. Conserved IKAROS-regulated genes associated with B-progenitor acute lymphoblastic leukemia outcome

    Witkowski, M. T., Hu, Y., Roberts, K. G., Boer, J. M., McKenzie, M. D., Liu, G. J., Le Grice, O. D., Tremblay, C. S., Ghisi, M., Willson, T. A., Horstmann, M. A., Aifantis, I., Cimmino, L., Frietze, S., den Boer, M. L., Mullighan, C. G., Smyth, G. K. & Dickins, R. A., 06.03.2017, In: J EXP MED. 214, 3, p. 773-791 19 p.

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

  27. Cardiac Function Remains Impaired Despite Reversible Cardiac Remodeling after Acute Experimental Viral Myocarditis

    Becher, P. M., Gotzhein, F., Klingel, K., Escher, F., Blankenberg, S., Westermann, D. & Lindner, D., 02.03.2017, In: J IMMUNOL RES.

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

  28. Development and Psychometric Evaluation of the MetabQoL 1.0: A Quality of Life Questionnaire for Paediatric Patients with Intoxication-Type Inborn Errors of Metabolism

    Zeltner, N. A., Baumgartner, M. R., Bondarenko, A., Ensenauer, R., Karall, D., Kölker, S., Mühlhausen, C., Scholl-Bürgi, S., Thimm, E., Quitmann, J., Burgard, P., Landolt, M. A. & Huemer, M., 01.03.2017, In: JIMD reports.

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

  29. Compound heterozygous GATA5 mutations in a girl with hydrops fetalis, congenital heart defects and genital anomalies

    Hempel, M., Casar Tena, T., Diehl, T., Burczyk, M. S., Strom, T. M., Kubisch, C., Philipp, M. & Lessel, D., 03.2017, In: HUM GENET. 136, 3, p. 339-346 8 p.

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

  30. Correction: The World Health Organization Fetal Growth Charts: A Multinational Longitudinal Study of Ultrasound Biometric Measurements and Estimated Fetal Weight

    Kiserud, T., Piaggio, G., Carroli, G., Widmer, M., Carvalho, J., Neerup Jensen, L., Giordano, D., Cecatti, J. G., Aleem, H. A., Talegawkar, S. A., Benachi, A., Diemert, A., Kitoto, A. T., Thinkhamrop, J., Lumbiganon, P., Tabor, A., Kriplani, A., Gonzalez, R., Hecher, K., Hanson, M. A., Gülmezoglu, A. M. & Platt, L. D., 03.2017, In: PLOS MED. 14, 3, p. e1002284

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

  31. Functional assessment of the kidneys in a 10 month-old child with renal artery stenosis by intravoxel incoherent motion

    Herrmann, J., Ittrich, H., Kaul, M. G., Groth, M., Tozakidou, M., Blohm, M., Oh, J. & Adam, G., 03.2017, In: NEPHROLOGY. 22, 3, p. 257-260 4 p.

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

  32. Kaposiformes Hämangioendotheliom mit Kasabach-Merritt-Syndrom: erfolgreiche Therapie mit Sirolimus

    Reichel, A., Hamm, H., Wiegering, V., Wiewrodt, B., Neubauer, H., Ernestus, K. & Winkler, B., 03.2017, In: J DTSCH DERMATOL GES. 15, 3, p. 329-331 3 p.

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

  33. Kaposiform hemangioendothelioma with Kasabach-Merritt syndrome: successful treatment with sirolimus

    Reichel, A., Hamm, H., Wiegering, V., Wiewrodt, B., Neubauer, H., Ernestus, K. & Winkler, B., 03.2017, In: J DTSCH DERMATOL GES. 15, 3, p. 329-331 3 p.

    Research output: SCORING: Contribution to journal › Letter › Research › peer-review

  34. Neurofilament as a blood marker for diagnosis and monitoring of primary progressive aphasias

    Steinacker, P., Semler, E., Anderl-Straub, S., Diehl-Schmid, J., Schroeter, M. L., Uttner, I., Foerstl, H., Landwehrmeyer, B., von Arnim, C. A. F., Kassubek, J., Oeckl, P., Huppertz, H-J., Fassbender, K., Fliessbach, K., Prudlo, J., Roßmeier, C., Kornhuber, J., Schneider, A., Volk, A. E., Lauer, M., Danek, A., Ludolph, A. C., Otto, M. & FTLDc Study Group, 03.2017, In: NEUROLOGY. 88, 10, p. 961-969

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

  35. No evidence that genetic variation in the myeloid-derived suppressor cell pathway influences ovarian cancer survival

    Sucheston-Campbell, L. E., Cannioto, R., Clay, A. I., Etter, J. L., Eng, K. H., Liu, S., Battaglia, S., Hu, Q., Szender, J. B., Minlikeeva, A., Joseph, J., Mayor, P., Abrams, S. I., Segal, B., Wallace, P. K., Soh, K. T., Zsiros, E. Z., Anton-Culver, H., Bandera, E. V., Beckmann, M. W., Berchuck, A., Bjørge, L., Bruegl, A., Campbell, I. G., Campbell, S. P., Chenevix-Trench, G., Cramer, D., Dansonka-Mieszkowska, A., Dao, F., Diergaarde, B., Doerk, T., Doherty, J. A., du Bois, A., Eccles, D., Engelholm, S. A., Fasching, P. A., Gayther, S. A., Gentry-Maharaj, A., Glasspool, R. M., Goodman, M. T., Gronwald, J., Harter, P., Hein, A., Heitz, F., Hillemmanns, P., Hogdall, C., Høgdall, E. V. S., Huzarski, T., Jensen, A., Johnatty, S. E., Jung, A., Karlan, B., Klapdor, R., Kluz, T., Konopka, B., Krüger Kjær, S., Kupryjanczyk, J., Lambrechts, D., Lester, J., Lubiński, J., Levine, D. A., Lundvall, L., McGuire, V., McNeish, I. A., Menon, U., Modugno, F., Ness, R. B., Orsulic, S., Paul, J., Pearce, C. L., Pejovic, T., Pharoah, P., Ramus, S. J., Rothstein, J., Rossing, M. A., Rübner, M., Schildkraut, J. M., Schmalfeldt, B., Schwaab, I., Siddiqui, N., Sieh, W., Sobiczewski, P., Song, H., Terry, K. L., Van Nieuwenhuysen, E., Vanderstichele, A., Vergote, I., Walsh, C. S., Webb, P. M., Wentzensen, N., Whittemore, A. S., Wu, A. H., Ziogas, A., Odunsi, K., Chang-Claude, J., Goode, E. L. & Moysich, K. B., 03.2017, In: CANCER EPIDEM BIOMAR. 26, 3, p. 420-424

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

  36. Quantitative Proteome Analysis of Mouse Liver Lysosomes Provides Evidence for Mannose 6-phosphate-independent Targeting Mechanisms of Acid Hydrolases in Mucolipidosis II

    Markmann, S., Krambeck, S., Hughes, C. J., Mirzaian, M., Aerts, J. M. F. G., Saftig, P., Schweizer, M., Vissers, J. P. C., Braulke, T. & Damme, M., 03.2017, In: MOL CELL PROTEOMICS. 16, 3, p. 438-450 13 p.

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

  37. Regenerative capacity of the enteric nervous system: is immaturity defining the point of no return?

    von Sochaczewski, C. O., Wenke, K., Grieve, A., Westgarth-Taylor, C., Loveland, J. A., Metzger, R. & Kluth, D., 03.2017, In: J SURG RES. 209, p. 112-121 10 p.

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

  38. Tumor suppressors BTG1 and IKZF1 cooperate during mouse leukemia development and increase relapse risk in B-cell precursor acute lymphoblastic leukemia patients

    Scheijen, B., Boer, J. M., Marke, R., Tijchon, E., van Ingen Schenau, D., Waanders, E., van Emst, L., van der Meer, L. T., Pieters, R., Escherich, G., Horstmann, M., Sonneveld, E., Venn, N., Sutton, R., Dalla-Pozza, L., Kuiper, R. P., Hoogerbrugge, P. M., den Boer, M. L. & van Leeuwen, F. N., 03.2017, In: HAEMATOLOGICA. 102, 3, p. 541-551

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

  39. Enrichment of putative PAX8 target genes at serous epithelial ovarian cancer susceptibility loci

    Kar, S. P., Adler, E., Tyrer, J., Hazelett, D. J., Anton-Culver, H., Bandera, E. V., Beckmann, M. W., Berchuck, A., Bogdanova, N., Brinton, L., Butzow, R., Campbell, I., Carty, K., Chang-Claude, J., Cook, L. S., Cramer, D. W., Cunningham, J. M., Dansonka-Mieszkowska, A., Doherty, J. A., Dörk, T., Dürst, M., Eccles, D., Fasching, P. A., Flanagan, J. M., Gentry-Maharaj, A., Glasspool, R., Goode, E. L., Goodman, M. T., Gronwald, J., Heitz, F., T Hildebrandt, M. A., Høgdall, E., Høgdall, C. K., Huntsman, D. G., Jensen, A., Karlan, B. Y., Kelemen, L. E., Kiemeney, L. A., Kjaer, S. K., Kupryjanczyk, J., Lambrechts, D., Levine, D. A., Li, Q., Lissowska, J., Lu, K. H., Lubiński, J., Massuger, L. F. A. G., McGuire, V., McNeish, I., Menon, U., Modugno, F., Monteiro, A. N. A., Moysich, K. B., Ness, R. B., Nevanlinna, H., Paul, J., Pearce, C. L., Pejovic, T., Permuth, J. B., Phelan, C., Pike, M. C., Poole, E. M., Ramus, S. J., Risch, H. A., Rossing, M. A., Salvesen, H. B., Schildkraut, J. M., Sellers, T. A., Sherman, M. E., Siddiqui, N., Sieh, W., Song, H., Southey, M., Terry, K. L., Tworoger, S. S., Walsh, C., Wentzensen, N., Whittemore, A. S., Wu, A. H., Yang, H. P., Zheng, W., Ziogas, A., Freedman, M. L., Gayther, S. A., Pharoah, P. P. D. & Lawrenson, K., 14.02.2017, In: BRIT J CANCER. 116, 4, p. 524-535 12 p.

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

  40. Disease-causing mutations affecting surface residues of mitochondrial glutaryl-CoA dehydrogenase impair stability, heteromeric complex formation, and mitochondria architecture

    Schmiesing, J., Lohmöller, B., Schweizer, M., Tidow, H., Gersting, S. W., Muntau, A. C., Braulke, T. & Mühlhausen, C., 01.02.2017, In: HUM MOL GENET. 26, 3, p. 538-551

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

  41. Evolution of disease activity and biomarkers on and off rapamycin in 28 patients with autoimmune lymphoproliferative syndrome

    Klemann, C., Esquivel, M., Magerus-Chatinet, A., Lorenz, M. R., Fuchs, I., Neveux, N., Castelle, M., Rohr, J., Bettoni da Cunha, C., Ebinger, M., Kobbe, R., Kremens, B., Kollert, F., Gambineri, E., Lehmberg, K., Seidel, M. G., Siepermann, K., Voelker, T., Schuster, V., Goldacker, S., Schwarz, K., Speckmann, C., Picard, C., Fischer, A., Rieux-Laucat, F., Ehl, S., Rensing-Ehl, A. & Neven, B., 02.2017, In: HAEMATOLOGICA. 102, 2, p. e52-e56

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

  42. Impact of elosulfase alfa in patients with morquio A syndrome who have limited ambulation: An open-label, phase 2 study

    Harmatz, P. R., Mengel, E., Geberhiwot, T., Muschol, N. M., Hendriksz, C. J., Burton, B. K., Jameson, E., Berger, K. I., Jester, A., Treadwell, M., Sisic, Z. & Decker, C., 02.2017, In: AM J MED GENET A. 173, 2, p. 375-383

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

  43. Inherited Thrombotic Thrombocytopenic Purpura (Upshaw Schulman Syndrome) as Differential Diagnosis to Neonatal Septicaemia with Disseminated Intravascular Coagulation - a Case Series

    Lehmberg, K., Hassenpflug, W. A., Klaassen, I., Hillebrand, G., Oyen, F., Budde, U., Singer, D. & Schneppenheim, R., 02.2017, In: Z GEBURTSH NEONATOL. 221, 1, p. 39-42

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

  44. Left atrial active contractile function parameters assessed by cardiac MR are sensitive to myocardial iron

    Wehbe, M., Yamamura, J., Fischer, R., Grosse, R., Berliner, C., Graessner, J., Lund, G., Adam, G. & Schoennagel, B. P., 02.2017, In: J MAGN RESON IMAGING. 45, 2, p. 535-541

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

  45. Lipid metabolism: from genetic loci to functional understanding

    Buerger, F. & Burkhardt, R., 02.2017, In: CURR OPIN LIPIDOL. 28, 1, p. 81-82 2 p.

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

  46. Liver transplantation as a potentially lifesaving measure in neuroblastoma stage 4S

    Holsten, T., Schuster, T., Grabhorn, E., Hero, B. & Frühwald, M. C., 02.2017, In: PEDIATR HEMAT ONCOL. 34, 1, p. 17-23 7 p.

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

  47. Living with Intoxication-Type Inborn Errors of Metabolism: A Qualitative Analysis of Interviews with Paediatric Patients and Their Parents

    Zeltner, N. A., Landolt, M. A., Baumgartner, M. R., Lageder, S., Quitmann, J., Sommer, R., Karall, D., Mühlhausen, C., Schlune, A., Scholl-Bürgi, S. & Huemer, M., 02.2017, In: JIMD reports. 31, p. 1-9

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

  48. Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome

    Oud, M. M., Tuijnenburg, P., Hempel, M., van Vlies, N., Ren, Z., Ferdinandusse, S., Jansen, M. H., Santer, R., Johannsen, J., Bacchelli, C., Alders, M., Li, R., Davies, R., Dupuis, L., Cale, C. M., Wanders, R. J. A., Pals, S. T., Ocaka, L., James, C., Müller, I., Lehmberg, K., Strom, T., Engels, H., Williams, H. J., Beales, P., Roepman, R., Dias, P., Brunner, H. G., Cobben, J-M., Hall, C., Hartley, T., Le Quesne Stabej, P., Mendoza-Londono, R., Davies, E. G., de Sousa, S. B., Lessel, D., Arts, H. H. & Kuijpers, T. W., 02.2017, In: AM J HUM GENET. 100, 2, p. 281-296

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

  49. Outcome in unresectable glioblastoma: MGMT promoter methylation makes the difference

    Thon, N., Thorsteinsdottir, J., Eigenbrod, S., Schüller, U., Lutz, J., Kreth, S., Belka, C., Tonn, J-C., Niyazi, M. & Kreth, F. W., 02.2017, In: J NEUROL. 264, 2, p. 350-358 9 p.

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

  50. Primary and secondary hemophagocytic lymphohistiocytosis have different patterns of T-cell activation, differentiation and repertoire

    Ammann, S., Lehmberg, K., Zur Stadt, U., Janka-Schaub, G., Rensing-Ehl, A., Klemann, C., Heeg, M., Bode, S., Fuchs, I., Ehl, S. & HLH study of the GPOH, 02.2017, In: EUR J IMMUNOL. 47, 2, p. 364-373

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

  51. Attenuated phenotype of Costello syndrome and early death in a patient with an HRAS Mutation (c.179G>T; p.Gly60Val) affecting signalling dynamics

    Gripp, K. W., Kolbe, V., Brandenstein, L. I. & Rosenberger, G., 31.01.2017, In: CLIN GENET. 92, 3, p. 332-337

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

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