Center for Obstetrics and Pediatrics
Publications
- 2015
Subunit interactions of the disease-related hexameric GlcNAc-1-phosphotransferase complex
De Pace, R., Voltolini Velho, R., Encarnação, M., Marschner, K., Braulke, T. & Pohl, S., 01.12.2015, In: HUM MOL GENET. 24, 23, p. 6826-6835Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
A recurrent synonymous KAT6B mutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicing
Yilmaz, R., Beleza-Meireles, A., Price, S., Oliveira, R., Kubisch, C., Clayton-Smith, J., Szakszon, K. & Borck, G., 12.2015, In: AM J MED GENET A. 167, 12, p. 3006-3010Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Clinical and genetic findings in a family with NMNAT1-associated Leber congenital amaurosis
Hedergott, A., Volk, A. E., Herkenrath, P., Thiele, H., Fricke, J., Altmüller, J., Nürnberg, P., Kubisch, C. & Neugebauer, A., 12.2015, In: GRAEF ARCH CLIN EXP. 253, 12, p. 2239-2246Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Fetal gender specific expression of tandem-repeat galectins in placental tissue from normally progressed human pregnancies and intrauterine growth restriction (IUGR)
Hutter, S., Knabl, J., Andergassen, U., Mayr, D., Hofmann, S., Kuhn, C., Mahner, S., Arck, P. & Jeschke, U., 12.2015, In: PLACENTA. 36, 12, p. 1352-61 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Genome-wide significant association with seven novel multiple sclerosis risk loci
Lill, C. M., Luessi, F., Alcina, A., Sokolova, E. A., Ugidos, N., de la Hera, B., Guillot-Noël, L., Malhotra, S., Reinthaler, E., Schjeide, B-M. M., Mescheriakova, J. Y., Mashychev, A., Wohlers, I., Akkad, D. A., Aktas, O., Alloza, I., Antigüedad, A., Arroyo, R., Astobiza, I., Blaschke, P., Boyko, A. N., Buttmann, M., Chan, A., Dörner, T., Epplen, J. T., Favorova, O. O., Fedetz, M., Fernández, O., García-Martínez, A., Gerdes, L-A., Graetz, C., Hartung, H-P., Hoffjan, S., Izquierdo, G., Korobko, D. S., Kroner, A., Kubisch, C., Kümpfel, T., Leyva, L., Lohse, P., Malkova, N. A., Montalban, X., Popova, E. V., Rieckmann, P., Rozhdestvenskii, A. S., Schmied, C., Smagina, I. V., Tsareva, E. Y., Winkelmann, A., Zettl, U. K., Binder, H., Cournu-Rebeix, I., Hintzen, R., Zimprich, A., Comabella, M., Fontaine, B., Urcelay, E., Vandenbroeck, K., Filipenko, M., Matesanz, F., Zipp, F. & Bertram, L., 12.2015, In: J MED GENET. 52, 12, p. 848-855Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
GRP78 knockdown does not affect cytotoxicity of cisplatin in ovarian cancer cells
Kullmann, M., Kotz, S., Hellwig, M., Kalayda, G. V., Metzger, S. & Jaehde, U., 12.2015, In: INT J CLIN PHARM TH. 53, 12, p. 1038-40 3 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Migraine and Vasospasm in Glaucoma: Age-Related Evaluation of 2027 Patients With Glaucoma or Ocular Hypertension
Gramer, G., Weber, B. H. F. & Gramer, E., 12.2015, In: INVEST OPHTH VIS SCI. 56, 13, p. 7999-8007 9 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Out of the haemophagocytic lymphohistiocytosis niche
Lehmberg, K., 12.2015, In: LANCET HAEMATOL. 2, 12, p. e508-9Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research
Serum Shiga toxin 2 values in patients during acute phase of diarrhoea-associated haemolytic uraemic syndrome
He, X., Quiñones, B., Loo, M. T., Loos, S., Scavia, G., Brigotti, M., Levtchenko, E. & Monnens, L., 12.2015, In: ACTA PAEDIATR. 104, 12, p. e564-8Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Successful laser treatment in monochorionic quadruplets affected by fetofetal transfusion syndrome
Tul, N., Bricelj, K., Ravnik, D., Diehl, W. & Hecher, K., 12.2015, In: ULTRASOUND OBST GYN. 46, 6, p. 749-50 2 p.Research output: SCORING: Contribution to journal › Conference abstract in journal › Research › peer-review
The challenges of managing coexistent disorders with phenylketonuria: 30 cases
MacDonald, A., Ahring, K., Almeida, M. F., Belanger-Quintana, A., Blau, N., Burlina, A., Cleary, M., Coskum, T., Dokoupil, K., Evans, S., Feillet, F., Giżewska, M., Gokmen Ozel, H., Lotz-Havla, A. S., Kamieńska, E., Maillot, F., Lammardo, A. M., Muntau, A. C., Puchwein-Schwepcke, A., Robert, M., Rocha, J. C., Santra, S., Skeath, R., Strączek, K., Trefz, F. K., van Dam, E., van Rijn, M., van Spronsen, F. & Vijay, S., 12.2015, In: MOL GENET METAB. 116, 4, p. 242-51 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Treatment during a vulnerable developmental period rescues a genetic epilepsy
Marguet, S. L., Le-Schulte, V. T. Q., Merseburg, A., Neu, A., Eichler, R., Jakovcevski, I., Ivanov, A., Hanganu-Opatz, I. L., Bernard, C., Morellini, F. & Isbrandt, D., 12.2015, In: NAT MED. 21, 12, p. 1436-44 9 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
A Case of a Bilateral Cicatricial Upper Eyelid Entropion After Hematopoietic Stem Cell Transplantation in Mucopolysaccharidosis Type I
Dulz, S., Wagenfeld, L., Richard, G., Schrum, J., Muschol, N. & Keserü, M., 19.11.2015, In: OPHTHAL PLAST RECONS.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Biomarker-driven stratification of disease-risk in non-metastatic medulloblastoma: Results from the multi-center HIT-SIOP-PNET4 clinical trial
Clifford, S. C., Lannering, B., Schwalbe, E. C., Hicks, D., O'Toole, K., Nicholson, S. L., Goschzik, T., Zur Mühlen, A., Figarella-Branger, D., Doz, F., Rutkowski, S., Gustafsson, G., Pietsch, T. & SIOP-Europe PNET Group, 17.11.2015, In: ONCOTARGET. 6, 36, p. 38827-39 13 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
De novo FUS mutations are the most frequent genetic cause in early-onset German ALS patients
Hübers, A., Just, W., Rosenbohm, A., Müller, K., Marroquin, N., Goebel, I., Högel, J., Thiele, H., Altmüller, J., Nürnberg, P., Weishaupt, J. H., Kubisch, C., Ludolph, A. C. & Volk, A. E., 11.2015, In: NEUROBIOL AGING. 36, 11, p. Art. 3117.e1Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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., Friedrich, C., Kwiecien, R., Treulieb, W., Lindow, C., Deinlein, F., Fleischhack, G., Kuehl, J. & Rutkowski, S., 11.2015, In: EUR J CANCER. 51, 17, p. 2634-2642Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Metastatic medulloblastoma in adults: outcome of patients treated according to the HIT2000 protocol
von Bueren, A. O., Friedrich, C., von Hoff, K., Kwiecien, R., Müller, K., Pietsch, T., Warmuth-Metz, M., Hau, P., Benesch, M., Kuehl, J., Kortmann, R. D. & Rutkowski, S., 11.2015, In: EUR J CANCER. 51, 16, p. 2434-43 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome
Lessel, D., Hisama, F. M., Szakszon, K., Saha, B., Sanjuanelo, A. B., Salbert, B. A., Steele, P. D., Baldwin, J., Brown, W. T., Piussan, C., Plauchu, H., Szilvássy, J., Horkay, E., Högel, J., Martin, G. M., Herr, A. J., Oshima, J. & Kubisch, C., 11.2015, In: HUM MUTAT. 36, 11, p. 1070-9 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Strategies to improve the quality of survival for childhood brain tumour survivors
Tallen, G., Resch, A., Calaminus, G., Wiener, A., Leiss, U., Pletschko, T., Friedrich, C., Langer, T., Grabow, D., Driever, P. H., Kortmann, R-D., Timmermann, B., Pietsch, T., Warmuth-Metz, M., Bison, B., Thomale, U-W., Krauss, J., Mynarek, M., von Hoff, K., Ottensmeier, H., Frühwald, M., Kramm, C. M., Temming, P., Müller, H. L., Witt, O., Kordes, U., Fleischhack, G., Gnekow, A., Rutkowski, S. & German Paediatric Brain Tumour Consortium (HIT-Network), 11.2015, In: EUR J PAEDIATR NEURO. 19, 6, p. 619-39 21 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation
Kölker, S., Cazorla, A. G., Valayannopoulos, V., Lund, A. M., Burlina, A. B., Sykut-Cegielska, J., Wijburg, F. A., Teles, E. L., Zeman, J., Dionisi-Vici, C., Barić, I., Karall, D., Augoustides-Savvopoulou, P., Aksglaede, L., Arnoux, J-B., Avram, P., Baumgartner, M. R., Blasco-Alonso, J., Chabrol, B., Chakrapani, A., Chapman, K., I Saladelafont, E. C., Couce, M. L., de Meirleir, L., Dobbelaere, D., Dvorakova, V., Furlan, F., Gleich, F., Gradowska, W., Grünewald, S., Jalan, A., Häberle, J., Haege, G., Lachmann, R., Laemmle, A., Langereis, E., de Lonlay, P., Martinelli, D., Matsumoto, S., Mühlhausen, C., de Baulny, H. O., Ortez, C., Peña-Quintana, L., Ramadža, D. P., Rodrigues, E., Scholl-Bürgi, S., Sokal, E., Staufner, C., Summar, M. L., Thompson, N., Vara, R., Pinera, I. V., Walter, J. H., Williams, M. & Burgard, P., 11.2015, In: J INHERIT METAB DIS. 38, 6, p. 1041-1057Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype
Kölker, S., Valayannopoulos, V., Burlina, A. B., Sykut-Cegielska, J., Wijburg, F. A., Teles, E. L., Zeman, J., Dionisi-Vici, C., Barić, I., Karall, D., Arnoux, J-B., Avram, P., Baumgartner, M. R., Blasco-Alonso, J., Boy, S. P. N., Rasmussen, M. B., Burgard, P., Chabrol, B., Chakrapani, A., Chapman, K., Cortès I Saladelafont, E., Couce, M. L., de Meirleir, L., Dobbelaere, D., Furlan, F., Gleich, F., González, M. J., Gradowska, W., Grünewald, S., Honzik, T., Hörster, F., Ioannou, H., Jalan, A., Häberle, J., Haege, G., Langereis, E., de Lonlay, P., Martinelli, D., Matsumoto, S., Mühlhausen, C., Murphy, E., de Baulny, H. O., Ortez, C., Pedrón, C. C., Pintos-Morell, G., Pena-Quintana, L., Ramadža, D. P., Rodrigues, E., Scholl-Bürgi, S., Sokal, E., Summar, M. L., Thompson, N., Vara, R., Pinera, I. V., Walter, J. H., Williams, M., Lund, A. M. & Cazorla, A. G., 11.2015, In: J INHERIT METAB DIS. 38, 6, p. 1059-1074Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Early-onset leukoencephalopathy due to a homozygous missense mutation in the DARS2 gene
Köhler, C., Heyer, C., Hoffjan, S., Stemmler, S., Lücke, T., Thiels, C., Kohlschütter, A., Löbel, U., Horvath, R., Kleinle, S., Benet-Pagès, A. & Abicht, A., 29.10.2015, In: MOL CELL PROBE. 29, 5, p. 319-322Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
EGFRvIII does not affect radiosensitivity with or without gefitinib treatment in glioblastoma cells
Struve, N., Riedel, M., Schulte, A., Rieckmann, T., Grob, T. J., Gal, A., Rothkamm, K., Lamszus, K., Petersen, C., Dikomey, E. & Kriegs, M., 20.10.2015, In: ONCOTARGET. 6, 32, p. 33867-77 11 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Sharpin Controls Osteogenic Differentiation of Mesenchymal Bone Marrow Cells
Jeschke, A., Catala-Lehnen, P., Sieber, S., Bickert, T., Schweizer, M., Koehne, T., Wintges, K., Marshall, R. P., Mautner, A., Duchstein, L., Otto, B., Horst, A. K., Amling, M., Kreienkamp, H-J. & Schinke, T., 15.10.2015, In: J IMMUNOL. 195, 8, p. 3675-84 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Suppressor of cytokine signaling 1 gene mutation status as a prognostic biomarker in classical Hodgkin lymphoma
Lennerz, J. K., Hoffmann, K., Bubolz, A-M., Lessel, D., Welke, C., Rüther, N., Viardot, A. & Möller, P., 06.10.2015, In: ONCOTARGET. 6, 30, p. 29097-110 14 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
A 2013/2014 northern hemisphere season surface antigen inactivated trivalent influenza vaccine - Assessing the immunogenicity and safety in an open label, uncontrolled study
Roggelin, L., Vinnemeier, C. D., Meyer, S., Witte, K., Marx, L., Theeß, W., Burchard, G. D., Rolling, T. & Cramer, J. P., 03.10.2015, In: HUM VACC IMMUNOTHER. 11, 10, p. 2370-5Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Exome sequencing identifies a novel heterozygous TGFB3 mutation in a disorder overlapping with Marfan and Loeys-Dietz syndrome
Kuechler, A., Altmüller, J., Nürnberg, P., Kotthoff, S., Kubisch, C. & Borck, G., 10.2015, In: MOL CELL PROBE. 29, 5, p. 330-334Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Mannose 6-phosphate-independent Lysosomal Sorting of LIMP-2.
Blanz, J., Zunke, F., Markmann, S., Damme, M., Braulke, T., Saftig, P. & Schwake, M., 10.2015, In: TRAFFIC. 16, 10, p. 1127-1136Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Next-generation sequencing in X-linked intellectual disability
Tzschach, A., Grasshoff, U., Beck-Woedl, S., Dufke, C., Bauer, C., Kehrer, M., Evers, C., Moog, U., Oehl-Jaschkowitz, B., Di Donato, N., Maiwald, R., Jung, C., Kuechler, A., Schulz, S., Meinecke, P., Spranger, S., Kohlhase, J., Seidel, J., Reif, S., Rieger, M., Riess, A., Sturm, M., Bickmann, J., Schroeder, C., Dufke, A., Riess, O. & Bauer, P., 10.2015, In: EUR J HUM GENET. 23, 11, p. 1513-8 6 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Prenatal Acetaminophen Affects Maternal Immune and Endocrine Adaptation to Pregnancy, Induces Placental Damage, and Impairs Fetal Development in Mice
Thiele, K., Solano, M. E., Huber, S., Flavell, R. A., Kessler, T., Barikbin, R., Jung, R., Karimi, K., Tiegs, G. & Arck, P. C., 10.2015, In: AM J PATHOL. 185, 10, p. 2805-2818Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Preoperative anemia is associated with adverse outcome in patients with urothelial carcinoma of the bladder following radical cystectomy
Gierth, M., Mayr, R., Aziz, A., Krieger, S., Wullich, B., Pycha, A., Lodde, M., Salvadori, U., Bründl, J., Fritsche, H. M., Hofstädter, F., Pawlik, M. T., Otto, W., May, M., Burger, M. & Denzinger, S., 10.2015, In: J CANCER RES CLIN. 141, 10, p. 1819-26 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Reprint of "Ethical issues with artificial nutrition of children with degenerative brain diseases"
Kohlschütter, A., Riga, C., Crespo, D., Torres, J. M., Penchaszadeh, V. & Schulz, A., 10.2015, In: BBA-MOL BASIS DIS. 1852, 10 Pt B, p. 2312-5 4 p.Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research
Safety and physiological effects of two different doses of elosulfase alfa in patients with morquio a syndrome: A randomized, double-blind, pilot study
Burton, B. K., Berger, K. I., Lewis, G. D., Tarnopolsky, M., Treadwell, M., Mitchell, J. J., Muschol, N., Jones, S. A., Sutton, V. R., Pastores, G. M., Lau, H., Sparkes, R., Genter, F., Shaywitz, A. J. & Harmatz, P., 10.2015, In: AM J MED GENET A. 167A, 10, p. 2272-2281 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Sedation and analgesia practices in neonatal intensive care units (EUROPAIN): results from a prospective cohort study
Carbajal, R., Eriksson, M., Courtois, E., Boyle, E., Avila-Alvarez, A., Andersen, R. D., Sarafidis, K., Polkki, T., Matos, C., Lago, P., Papadouri, T., Montalto, S. A., Ilmoja, M-L., Simons, S., Tameliene, R., van Overmeire, B., Berger, A., Dobrzanska, A., Schroth, M., Bergqvist, L., Lagercrantz, H., Anand, K. J. S., EUROPAIN Survey Working Group & Deindl, P., 10.2015, In: LANCET RESP MED. 3, 10, p. 796-812 17 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Targeting of MYCN by means of DNA vaccination is effective against neuroblastoma in mice
Stermann, A., Huebener, N., Seidel, D., Fest, S., Eschenburg, G., Stauder, M., Schramm, A., Eggert, A. & Lode, H. N., 10.2015, In: CANCER IMMUNOL IMMUN. 64, 10, p. 1215-27 13 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Childhood Acute Lymphoblastic Leukemia: Progress Through Collaboration
Pui, C-H., Yang, J. J., Hunger, S. P., Pieters, R., Schrappe, M., Biondi, A., Vora, A., Baruchel, A., Silverman, L. B., Schmiegelow, K., Escherich, G., Horibe, K., Benoit, Y. C. M., Izraeli, S., Yeoh, A. E. J., Liang, D-C., Downing, J. R., Evans, W. E., Relling, M. V. & Mullighan, C. G., 20.09.2015, In: J CLIN ONCOL. 33, 27, p. 2938-48 11 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment
Hempel, M., Cremer, K., Ockeloen, C. W., Lichtenbelt, K. D., Herkert, J. C., Denecke, J., Haack, T. B., Zink, A. M., Becker, J., Wohlleber, E., Johannsen, J., Alhaddad, B., Pfundt, R., Fuchs, S., Wieczorek, D., Strom, T. M., van Gassen, K. L. I., Kleefstra, T., Kubisch, C., Engels, H. & Lessel, D., 03.09.2015, In: AM J HUM GENET. 97, 3, p. 493-500 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences
Gripp, K. W., Sol-Church, K., Smpokou, P., Graham, G. E., Stevenson, D. A., Hanson, H., Viskochil, D. H., Baker, L. C., Russo, B., Gardner, N., Stabley, D. L., Kolbe, V. & Rosenberger, G., 09.2015, In: AM J MED GENET A. 167A, 9, p. 2085-97 13 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
BCR-ABL1-like cases in pediatric acute lymphoblastic leukemia: a comparison between DCOG/Erasmus MC and COG/St. Jude signatures
Boer, J. M., Marchante, J. R. M., Evans, W. E., Horstmann, M. A., Escherich, G., Pieters, R. & Den Boer, M. L., 09.2015, In: HAEMATOLOGICA. 100, 9, p. e354-7Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research
Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data
Huemer, M., Bürer, C., Ješina, P., Kožich, V., Landolt, M. A., Suormala, T., Fowler, B., Augoustides-Savvopoulou, P., Blair, E., Brennerova, K., Broomfield, A., De Meirleir, L., Gökcay, G., Hennermann, J., Jardine, P., Koch, J., Lorenzl, S., Lotz-Havla, A. S., Noss, J., Parini, R., Peters, H., Plecko, B., Ramos, F. J., Schlune, A., Tsiakas, K., Zerjav Tansek, M. & Baumgartner, M. R., 09.2015, In: J INHERIT METAB DIS. 38, 5, p. 957-967 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Homoarginine supplementation improves blood glucose in diet-induced obese mice
Stockebrand, M., Hornig, S., Neu, A., Atzler, D., Cordts, K., Böger, R. H., Isbrandt, D., Schwedhelm, E. & Choe, C-U., 09.2015, In: AMINO ACIDS. 47, 9, p. 1921-9 9 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Incidence, Trends, and Survival of Children With Embryonal Tumors
Tulla, M., Berthold, F., Graf, N., Rutkowski, S., von Schweinitz, D., Spix, C. & Kaatsch, P., 09.2015, In: PEDIATRICS. 136, 3, p. e623-32Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Interpretation of sequence variants of the FBN1 gene analog or digital? A commentary on decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization of novel FBN1 variants
von Kodolitsch, Y. & Kutsche, K., 09.2015, In: J HUM GENET. 60, 9, p. 465-466 2 p.Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research
Response to cyclosporine in steroid-resistant nephrotic Syndrome: discontinuation is possible
Klaassen, I. A., Özgören, B., Sadowski, C. E., Möller, K., Van Husen, M., Lehnhardt, A., Timmermann, K., Freudenberg, F., Helmchen, U., Oh, J. & Kemper, M. J., 09.2015, In: PEDIATR NEPHROL. 30, 9, p. 1477-1483 6 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Cytokine serum levels during post-transplant adverse events in 61 pediatric patients after hematopoietic stem cell transplantation
Döring, M., Cabanillas Stanchi, K. M., Mezger, M., Erbacher, A., Feucht, J., Pfeiffer, M., Lang, P., Handgretinger, R. & Müller, I., 28.08.2015, In: BMC CANCER. 15, p. Art. 607Research output: SCORING: Contribution to journal › SCORING: Journal article › Transfer › peer-review
Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes
Chien, Y-H., Abdenur, J. E., Baronio, F., Bannick, A. A., Corrales, F., Couce, M., Donner, M. G., Ficicioglu, C., Freehauf, C., Frithiof, D., Gotway, G., Hirabayashi, K., Hofstede, F., Hoganson, G., Hwu, W-L., James, P., Kim, S., Korman, S. H., Lachmann, R., Levy, H., Lindner, M., Lykopoulou, L., Mayatepek, E., Muntau, A., Okano, Y., Raymond, K., Rubio-Gozalbo, E., Scholl-Bürgi, S., Schulze, A., Singh, R., Stabler, S., Stuy, M., Thomas, J., Wagner, C., Wilson, W. G., Wortmann, S., Yamamoto, S., Pao, M. & Blom, H. J., 20.08.2015, In: ORPHANET J RARE DIS. 10, p. Art. 99Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Rat renal transplant model for mixed acute humoral and cellular rejection: Weak correlation of serum cytokines/chemokines with intragraft changes
Lemke, A., Noriega, M. D. L. M., Röske, A. M., Kemper, M. J., Nashan, B., Falk, C. S. & Koch, M., 20.08.2015, In: TRANSPL IMMUNOL. 33, 2, p. 95-102Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
In Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11
Varga, R-E., Khundadze, M., Damme, M., Nietzsche, S., Hoffmann, B., Stauber, T., Koch, N., Hennings, C., Franzka, P., Huebner, A. K., Kessels, M. M., Biskup, C., Jentsch, T. J., Qualmann, B., Braulke, T., Kurth, I., Beetz, C. & Hübner, C. A., 18.08.2015, In: PLOS GENET. 11 , 8, p. e1005454; 1-20Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Interactive effects of citalopram and serotonin transporter genotype on neural correlates of response inhibition and attentional orienting
Fischer, A. G., Endrass, T., Goebel, I., Reuter, M., Montag, C., Kubisch, C. & Ullsperger, M., 01.08.2015, In: NEUROIMAGE. 116, p. 59-67 9 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Neuropsychological Outcome of Children Treated for Standard Risk Medulloblastoma in the PNET4 European Randomized Controlled Trial of Hyperfractionated Versus Standard Radiation Therapy and Maintenance Chemotherapy
Câmara-Costa, H., Resch, A., Kieffer, V., Lalande, C., Poggi, G., Kennedy, C., Bull, K., Calaminus, G., Grill, J., Doz, F., Rutkowski, S., Massimino, M., Kortmann, R-D., Lannering, B., Dellatolas, G., Chevignard, M. & Quality of Survival Working Group of the Brain Tumour Group of SIOP-Europe, 01.08.2015, In: INT J RADIAT ONCOL. 92, 5, p. 978-85 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review