Center for Obstetrics and Pediatrics
Publications
- 2022
Influence of Fetomaternal Microchimerism on Maternal NK Cell Reactivity against the Child's Leukemic Blasts
Martin, L-M., Kruchen, A., Fehse, B. & Müller, I., 04.03.2022, In: BIOMEDICINES. 10, 3, 603.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes
Breast Cancer Association Consortium (BCAC), Mavaddat, N., Dorling, L., Carvalho, S., Allen, J., González-Neira, A., Keeman, R., Bolla, M. K., Dennis, J., Wang, Q., Ahearn, T. U., Andrulis, I. L., Beckmann, M. W., Behrens, S., Benitez, J., Bermisheva, M., Blomqvist, C., Bogdanova, N. V., Bojesen, S. E., Briceno, I., Brüning, T., Camp, N. J., Campbell, A., Castelao, J. E., Chang-Claude, J., Chanock, S. J., Chenevix-Trench, G., Christiansen, H., Czene, K., Dörk, T., Eriksson, M., Evans, D. G., Fasching, P. A., Figueroa, J. D., Flyger, H., Gabrielson, M., Gago-Dominguez, M., Geisler, J., Giles, G. G., Guénel, P., Hadjisavvas, A., Hahnen, E., Hall, P., Hamann, U., Hartikainen, J. M., Hartman, M., Hoppe, R., Howell, A., Jakubowska, A., Jung, A., Khusnutdinova, E. K., Kristensen, V. N., Li, J., Lim, S. H., Lindblom, A., Loizidou, M. A., Lophatananon, A., Lubinski, J., Madsen, M. J., Mannermaa, A., Manoochehri, M., Margolin, S., Mavroudis, D., Milne, R. L., Mohd Taib, N. A., Morra, A., Muir, K., Obi, N., Osorio, A., Park-Simon, T-W., Peterlongo, P., Radice, P., Saloustros, E., Sawyer, E. J., Schmutzler, R. K., Shah, M., Sim, X., Southey, M. C., Thorne, H., Tomlinson, I., Torres, D., Truong, T., Yip, C. H., Spurdle, A. B., Vreeswijk, M. P. G., Dunning, A. M., García-Closas, M., Pharoah, P. D. P., Kvist, A., Muranen, T. A., Nevanlinna, H., Teo, S. H., Devilee, P., Schmidt, M. K. & Easton, D. F., 01.03.2022, In: JAMA ONCOL. 8, 3, p. e216744 e216744.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
A new amplicon-based gene panel for next generation sequencing characterization of meningiomas
Mawrin, C., Koch, R., Waldt, N., Sandalcioglu, I. E., Braunsdorf, W. K., Warnke, J-P., Goehre, F., Meisel, H-J., Ewald, C., Neyazi, S., Schüller, U. & Kirches, E., 03.2022, In: BRAIN PATHOL. 32, 2, e13046.Research output: SCORING: Contribution to journal › SCORING: Review article › Research
Author Correction: Platelet GPIbα is a mediator and potential interventional target for NASH and subsequent liver cancer
Malehmir, M., Pfister, D., Gallage, S., Szydlowska, M., Inverso, D., Kotsiliti, E., Leone, V., Peiseler, M., Surewaard, B. G. J., Rath, D., Ali, A., Wolf, M. J., Drescher, H., Healy, M. E., Dauch, D., Kroy, D., Krenkel, O., Kohlhepp, M., Engleitner, T., Olkus, A., Sijmonsma, T., Volz, J., Deppermann, C., Stegner, D., Helbling, P., Nombela-Arrieta, C., Rafiei, A., Hinterleitner, M., Rall, M., Baku, F., Borst, O., Wilson, C. L., Leslie, J., O'Connor, T., Weston, C. J., Chauhan, A., Adams, D. H., Sheriff, L., Teijeiro, A., Prinz, M., Bogeska, R., Anstee, N., Bongers, M. N., Notohamiprodjo, M., Geisler, T., Withers, D. J., Ware, J., Mann, D. A., Augustin, H. G., Vegiopoulos, A., Milsom, M. D., Rose, A. J., Lalor, P. F., Llovet, J. M., Pinyol, R., Tacke, F., Rad, R., Matter, M., Djouder, N., Kubes, P., Knolle, P. A., Unger, K., Zender, L., Nieswandt, B., Gawaz, M., Weber, A. & Heikenwalder, M., 03.2022, In: NAT MED. 28, 3, p. 600Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research
Body growth, upper arm fat area, and clinical parameters in children with nephropathic cystinosis compared with other pediatric chronic kidney disease entities
Kluck, R., Müller, S., Jagodzinski, C., Hohenfellner, K., Büscher, A., Kemper, M. J., Oh, J., Billing, H., Thumfart, J., Weber, L. T., Acham-Roschitz, B., Arbeiter, K., Tönshoff, B., Hagenberg, M., Kanzelmeyer, N., Pavičić, L., Haffner, D. & Zivicnjak, M., 03.2022, In: J INHERIT METAB DIS. 45, 2, p. 192-202 11 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Clinical and molecular characterization of isolated M1 disease in pediatric medulloblastoma: experience from the German HIT-MED studies
Obrecht, D., Mynarek, M., Hagel, C., Kwiecien, R., Spohn, M., Bockmayr, M., Bison, B., Pfister, S. M., Jones, D. T. W., Sturm, D., von Deimling, A., Sahm, F., von Hoff, K., Juhnke, B-O., Benesch, M., Gerber, N. U., Friedrich, C., von Bueren, A. O., Kortmann, R-D., Schwarz, R., Pietsch, T., Fleischhack, G., Schüller, U. & Rutkowski, S., 03.2022, In: J NEURO-ONCOL. 157, 1, p. 37-48 12 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Clinical Opinion: The diagnosis and management of suspected fetal growth restriction: an evidence-based approach
Lees, C. C., Romero, R., Stampalija, T., Dall'Asta, A., DeVore, G. A., Prefumo, F., Frusca, T., Visser, G. H. A., Hobbins, J. C., Baschat, A. A., Bilardo, C. M., Galan, H. L., Campbell, S., Maulik, D., Figueras, F., Lee, W., Unterscheider, J., Valensise, H., Da Silva Costa, F., Salomon, L. J., Poon, L. C., Ferrazzi, E., Mari, G., Rizzo, G., Kingdom, J. C., Kiserud, T. & Hecher, K., 03.2022, In: AM J OBSTET GYNECOL. 226, 3, p. 366-378 13 p.Research output: SCORING: Contribution to journal › SCORING: Review article › Research
Engpass im Kreißsaal?
Agricola, C. J. & Voß, M., 03.2022, In: Deutsche Hebammen Zeitschrift. 3Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research
Magnetic Resonance Imaging Characteristics of Molecular Subgroups in Pediatric H3 K27M Mutant Diffuse Midline Glioma
Hohm, A., Karremann, M., Gielen, G. H., Pietsch, T., Warmuth-Metz, M., Vandergrift, L. A., Bison, B., Stock, A., Hoffmann, M., Pham, M., Kramm, C. M. & Nowak, J., 03.2022, In: CLIN NEURORADIOL. 32, 1, p. 249-258 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Phenotypic analysis of the pediatric immune response to SARS-CoV-2 by flow cytometry
Sibbertsen, F., Glau, L., Paul, K., Mir, T. S., Gersting, S. W., Tolosa, E. & Dunay, G. A., 03.2022, In: CYTOM PART A. 101, 3, p. 220-227 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Refining M1 stage in medulloblastoma: criteria for cerebrospinal fluid cytology and implications for improved risk stratification from the HIT-2000 trial
Hagel, C., Sloman, V., Mynarek, M., Petrasch, K., Obrecht, D., Kühl, J., Deinlein, F., Schmid, R., von Bueren, A. O., Friedrich, C., Juhnke, B. O., Gerber, N. U., Kwiecien, R., Girschick, H., Höller, A., Zapf, A., von Hoff, K. & Rutkowski, S., 03.2022, In: EUR J CANCER. 164, p. 30-38Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Types of deviation and review criteria in pretreatment central quality control of tumor bed boost in medulloblastoma-an analysis of the German Radiotherapy Quality Control Panel in the SIOP PNET5 MB trial
Dietzsch, S., Braesigk, A., Seidel, C., Remmele, J., Kitzing, R., Schlender, T., Mynarek, M., Geismar, D., Jablonska, K., Schwarz, R., Pazos, M., Weber, D. C., Frick, S., Gurtner, K., Matuschek, C., Harrabi, S. B., Glück, A., Lewitzki, V., Dieckmann, K., Benesch, M., Gerber, N. U., Obrecht, D., Rutkowski, S., Timmermann, B. & Kortmann, R-D., 03.2022, In: STRAHLENTHER ONKOL. 198, 3, p. 282-290 9 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Multimodal Treatment of Nasopharyngeal Carcinoma in Children, Adolescents and Young Adults-Extended Follow-Up of the NPC-2003-GPOH Study Cohort and Patients of the Interim Cohort
Römer, T., Franzen, S., Kravets, H., Farrag, A., Makowska, A., Christiansen, H., Eble, M. J., Timmermann, B., Staatz, G., Mottaghy, F. M., Bührlen, M., Hagenah, U., Puzik, A., Driever, P. H., Greiner, J., Jorch, N., Tippelt, S., Schneider, D. T., Kropshofer, G., Overbeck, T. R., Christiansen, H., Brozou, T., Escherich, G., Becker, M., Friesenbichler, W., Feuchtinger, T., Puppe, W., Heussen, N., Hilgers, R. D. & Kontny, U., 28.02.2022, In: CANCERS. 14, 5, 1261.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Temporally extended and reversible neuronal silencing with Aion
Rodriguez-Rozada, S., Wietek, J., Tenedini, F. M., Sauter, K., Hegemann, P., Soba, P. & Wiegert, J. S., 28.02.2022, bioRxivResearch output: Other contribution › Other › Research
Soluble CD146 is increased in preeclampsia and interacts with galectin-1 to regulate trophoblast migration through VEGFR2 receptor
Bouvier, S., Traboulsi, W., Blois, S. M., Demattei, C., Joshkon, A., Mousty, E., Nollet, M., Paulmyer-Lacroix, O., Foucault-Bertaud, A., Fortier, M., Leroyer, A. S., Bachelier, R., Letouzey, V., Alfaidy, N., Dignat-George, F., Blot-Chabaud, M., Gris, J-C. & Bardin, N., 22.02.2022, In: F&S science. 3, 1, p. 84-94 11 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Understanding disease symptoms and impacts and producing qualitatively-derived severity stages for MPS IIIA: a mixed methods approach
Lanar, S., Parker, S., O'Neill, C., Marrel, A., Arnould, B., Héron, B., Muschol, N., Wijburg, F. A., Chakrapani, A., Olivier, S. & Aiach, K., 22.02.2022, In: ORPHANET J RARE DIS. 17, 1, p. 75Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Akute lymphoblastische Leukämie
Escherich, G., Möricke, A., Horstmann, M. & Schrappe, M., 15.02.2022, Kompendium Internistische Onkologie: Standards in Diagnostik und Therapie. Schmoll, H-J. (ed.). 5 ed. Berlin, Heidelberg: Springer, 11 p.Research output: SCORING: Contribution to book/anthology › Chapter › Research › peer-review
NET Release of Long-Term Surviving Neutrophils
Kolman, J. P., Pagerols Raluy, L., Müller, I., Nikolaev, V., Trochimiuk, M., Appl, B., Wadehn, H., Dücker, C., Stoll, F., Boettcher, M., Reinshagen, K. & Trah, J., 15.02.2022, In: FRONT IMMUNOL. 13, p. 815412 815412.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Primary central nervous system sarcoma with DICER1 mutation-treatment results of a novel molecular entity in pediatric Peruvian patients
Diaz Coronado, R. Y., Mynarek, M., Koelsche, C., Mora Alferez, P., Casavilca Zambrano, S., Wachtel Aptowitzer, A., Sahm, F., von Deimling, A., Schüller, U., Spohn, M., Sturm, D., Pfister, S. M., Morales La Madrid, A., Sernaque Quintana, R., Sarria Bardales, G., Negreiros Chinchihuara, T., Ojeda Medina, L., Garcia-Corrochano Medina, P., Campos Sanchez, D. A., Ponce Farfan, J., Rutkowski, S. & Garcia Leon, J. L., 15.02.2022, In: CANCER-AM CANCER SOC. 128, 4, p. 697-707 11 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Aggressive variants of prostate cancer: underlying mechanisms of neuroendocrine transdifferentiation
Merkens, L., Sailer, V., Lessel, D., Janzen, E., Greimeier, S., Kirfel, J., Perner, S., Pantel, K., Werner, S. & von Amsberg, G., 02.02.2022, In: J EXP CLIN CANC RES. 41, 1, 46.Research output: SCORING: Contribution to journal › SCORING: Review article › Research
An observational, prospective, multicenter, natural history study of patients with mucopolysaccharidosis type IIIA
Wijburg, F. A., Aiach, K., Chakrapani, A., Eisengart, J. B., Giugliani, R., Héron, B., Muschol, N., O'Neill, C., Olivier, S. & Parker, S., 02.2022, In: MOL GENET METAB. 135, 2, p. 133-142 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Clinical and Genetic Aspects of Juvenile Onset Pompe Disease
Holzwarth, J., Minopoli, N., Pfrimmer, C., Smitka, M., Borrel, S., Kirschner, J., Muschol, N., Hartmann, H., Hennermann, J. B., Neubauer, B. A., Hobbiebrunken, E., Husain, R. & Hahn, A., 02.2022, In: NEUROPEDIATRICS. 53, 1, p. 39-45 7 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Clinical outcomes, Kadish-INSICA staging and therapeutic targeting of somatostatin receptor 2 in olfactory neuroblastoma
Lechner, M., Takahashi, Y., Turri-Zanoni, M., Liu, J., Counsell, N., Hermsen, M., Kaur, R. P., Zhao, T., Ramanathan, M., Schartinger, V. H., Emanuel, O., Helman, S., Varghese, J., Dudas, J., Riechelmann, H., Sprung, S., Haybaeck, J., Howard, D., Engel, N. W., Stewart, S., Brooks, L., Pickles, J. C., Jacques, T. S., Fenton, T. R., Williams, L., Vaz, F. M., O'Flynn, P., Stimpson, P., Wang, S., Hannan, S. A., Unadkat, S., Hughes, J., Dwivedi, R., Forde, C. T., Randhawa, P., Gane, S., Joseph, J., Andrews, P. J., Royle, G., Franchi, A., Maragliano, R., Battocchio, S., Bewicke-Copley, H., Pipinikas, C., Webster, A., Thirlwell, C., Ho, D., Teschendorff, A., Zhu, T., Steele, C. D., Pillay, N., Vanhaesebroeck, B., Mohyeldin, A., Fernandez-Miranda, J., Park, K. W., Le, Q-T., West, R. B., Saade, R., Manes, R. P., Omay, S. B., Vining, E. M., Judson, B. L., Yarbrough, W. G., Sansovini, M., Silvia, N., Grassi, I., Bongiovanni, A., Capper, D., Schüller, U., Thavaraj, S., Sandison, A., Surda, P., Hopkins, C., Ferrari, M., Mattavelli, D., Rampinelli, V., Facchetti, F., Nicolai, P., Bossi, P., Henriquez, O. A., Magliocca, K., Solares, C. A., Wise, S. K., Llorente, J. L., Patel, Z. M., Nayak, J. V., Hwang, P. H., Lacy, P. D., Woods, R., O'Neill, J. P., Jay, A., Carnell, D., Forster, M. D., Ishii, M., London, N. R., Bell, D. M., Gallia, G. L., Castelnuovo, P., Severi, S., Lund, V. J. & Hanna, E. Y., 02.2022, In: EUR J CANCER. 162, p. 221-236 16 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Combination of high-dose ambroxol and ERT in Gaucher disease type 2: A nearly age-appropriate neurocognitive and motor development after three years of treatment
Aries, C., Lohmöller, B., Tiede, S., Täuber, K., Rudolph, C. & Muschol, N., 02.2022, In: MOL GENET METAB. 135, 2, S19.Research output: SCORING: Contribution to journal › Conference abstract in journal › Research › peer-review
Empfehlungen zu SARS-CoV-2/COVID-19 in Schwangerschaft, Geburt und Wochenbett – Update November 2021 (Kurzfassung)
Zöllkau, J., Hagenbeck, C., Hecher, K., Pecks, U., Schlembach, D., Simon, A., Schlösser, R. & Schleußner, E., 02.2022, In: Z GEBURTSH NEONATOL. 226, 1, p. 16-24 9 p.Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research
Empfehlungen zu SARS-CoV-2/COVID-19 in Schwangerschaft, Geburt und Wochenbett – Update November 2021 (Langfassung)
Zöllkau, J., Hagenbeck, C., Hecher, K., Pecks, U., Schlembach, D., Simon, A., Schlösser, R. & Schleußner, E., 02.2022, In: Z GEBURTSH NEONATOL. 226, 1, p. e1-e35Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research
Final results of the Choroid Plexus Tumor study CPT-SIOP-2000
Wolff, J. E., Van Gool, S. W., Kutluk, T., Diez, B., Kebudi, R., Timmermann, B., Garami, M., Sterba, J., Fuller, G. N., Bison, B. & Kordes, U. R., 02.2022, In: J NEURO-ONCOL. 156, 3, p. 599-613 15 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Gain-of-function variant p.Pro2555Arg of von Willebrand factor increases aggregate size through altering stem dynamics
Huck, V., Chen, P-C., Xu, E-R., Tischer, A., Klemm, U., Aponte-Santamaría, C., Mess, C., Obser, T., Kutzki, F., König, G., Denis, C., Gräter, F., Wilmanns, M., Auton, M., Schneider, S. W., Schneppenheim, R., Hennig, J. & Brehm, M. A., 02.2022, In: THROMB HAEMOSTASIS. 122, 2, p. 226-239 14 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Hypersensitivity to Pegylated E.colia sparaginase as first-line treatment in contemporary paediatric acute lymphoblastic leukaemia protocols: a meta-analysis of the Ponte di Legno Toxicity working group
Brigitha, L. J., Fiocco, M., Pieters, R., Albertsen, B. K., Escherich, G., Lopez-Lopez, E., Mondelaers, V., Vora, A., Vrooman, L., Schmiegelow, K., van der Sluis, I. M. & Ponte di Legno toxicity working group, 02.2022, In: EUR J CANCER. 162, p. 65-75 11 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Long-term survival of an adolescent glioblastoma patient under treatment with vinblastine and valproic acid illustrates importance of methylation profiling
Kresbach, C., Bronsema, A., Guerreiro, H., Rutkowski, S., Schüller, U. & Winkler, B., 02.2022, In: CHILD NERV SYST. 38, 2, p. 479-483 5 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Markers of neutrophil activation and extracellular trap formation predict appendicitis
Boettcher, M., Schacker, A-L., Esser, M., Schönfeld, L., Ebenebe, C. U., Rohde, H., Mokhaberi, N., Trochimiuk, M., Appl, B., Raluy, L. P., Reinshagen, K., Klohs, S. & Königs, I., 02.2022, In: SURGERY. 171, 2, p. 312-319 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Maternal versus paternal living kidney transplant donation is associated with lower rejection in young pediatric recipients: A Collaborative Transplant Study report
Engels, G., Döhler, B., Tönshoff, B., Oh, J., Kruchen, A., Müller, I. & Süsal, C., 02.2022, In: PEDIATR TRANSPLANT. 26, 1, e14154.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Response to Battaglia and Balestracci
Loos, S., 02.2022, In: PEDIATR NEPHROL. 37, 2, p. 465Research output: SCORING: Contribution to journal › Other (editorial matter etc.) › Research
Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males
Kreienkamp, H-J., Wagner, M., Weigand, H., McConkie-Rossell, A., McDonald, M., Keren, B., Mignot, C., Gauthier, J., Soucy, J-F., Michaud, J. L., Dumas, M., Smith, R., Löbel, U., Hempel, M., Kubisch, C., Denecke, J., Campeau, P. M., Bain, J. M. & Lessel, D., 02.2022, In: HUM GENET. 141, 2, p. 257-272 16 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Aberrant upregulation of the glycolytic enzyme PFKFB3 in CLN7 neuronal ceroid lipofuscinosis
Lopez-Fabuel, I., Garcia-Macia, M., Buondelmonte, C., Burmistrova, O., Bonora, N., Alonso-Batan, P., Morant-Ferrando, B., Vicente-Gutierrez, C., Jimenez-Blasco, D., Quintana-Cabrera, R., Fernandez, E., Llop, J., Ramos-Cabrer, P., Sharaireh, A., Guevara-Ferrer, M., Fitzpatrick, L., Thompton, C. D., McKay, T. R., Storch, S., Medina, D. L., Mole, S. E., Fedichev, P. O., Almeida, A. & Bolaños, J. P., 27.01.2022, In: NAT COMMUN. 13, 1, p. 536Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
The Length of the Transition Zone in Patients with Rectosigmoid Hirschsprung Disease
Tomuschat, C., Mietzsch, S., Dwertmann-Rico, S., Clauditz, T., Schaefer, H. & Reinshagen, K., 25.01.2022, In: CHILDREN-BASEL. 9, 2, 152.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
LMNA Mutation in a Family with a Strong History of Sudden Cardiac Death
Keil, L., Berisha, F., Knappe, D., Kubisch, C., Shoukier, M., Kirchhof, P., Fabritz, L., Hellenbroich, Y., Woitschach, R. & Magnussen, C., 19.01.2022, In: GENES-BASEL. 13, 2, 169.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Local and Systemic Therapy of Recurrent Medulloblastomas in Children and Adolescents: Results of the P-HIT-REZ 2005 Study
Gaab, C., Adolph, J. E., Tippelt, S., Mikasch, R., Obrecht, D., Mynarek, M., Rutkowski, S., Pfister, S. M., Milde, T., Witt, O., Bison, B., Warmuth-Metz, M., Kortmann, R-D., Dietzsch, S., Pietsch, T., Timmermann, B., Sträter, R., Bode, U., Faldum, A., Kwiecien, R. & Fleischhack, G., 18.01.2022, In: CANCERS. 14, 3, 471.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Mutations affecting the N-terminal domains of SHANK3 point to different pathomechanisms in neurodevelopmental disorders
Woike, D., Wang, E., Tibbe, D., Hassani Nia, F., Failla, A. V., Kibæk, M., Overgård, T. M., Larsen, M. J., Fagerberg, C. R., Barsukov, I. & Kreienkamp, H-J., 18.01.2022, In: SCI REP-UK. 12, 1, 902.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Clinical Trials in High-Risk Medulloblastoma: Evolution of the SIOP-Europe HR-MB Trial
Bailey, S., André, N., Gandola, L., Massimino, M., Rutkowski, S. & Clifford, S. C., 13.01.2022, In: CANCERS. 14, 2, 374.Research output: SCORING: Contribution to journal › SCORING: Review article › Research
Colectomy Followed by J-Pouch Reconstruction to Correct Total Colonic Aganglionosis
Reinshagen, K., Burmester, G., Hagens, J., Krebs, T. F. & Tomuschat, C., 12.01.2022, In: CHILDREN-BASEL. 9, 1, 101.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
CfDNA and DNases: New Biomarkers of Sepsis in Preterm Neonates—A Pilot Study
Lenz, M., Maiberger, T., Armbrust, L., Kiwit, A., Von der Wense, A., Reinshagen, K., Elrod, J. & Boettcher, M., 06.01.2022, In: CELLS-BASEL. 11, 2, 192.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Treatment of embryonal tumors with multilayered rosettes with carboplatin/etoposide induction and high-dose chemotherapy within the prospective P-HIT trial
Juhnke, B-O., Gessi, M., Gerber, N. U., Friedrich, C., Mynarek, M., von Bueren, A. O., Haberler, C., Schüller, U., Kortmann, R-D., Timmermann, B., Bison, B., Warmuth-Metz, M., Kwiecien, R., Pfister, S. M., Spix, C., Pietsch, T., Kool, M., Rutkowski, S. & von Hoff, K., 05.01.2022, In: NEURO-ONCOLOGY. 24, 1, p. 127-137 11 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Psychosoziale Versorgung für Kinder mit seltenen Erkrankungen und ihren Eltern und Geschwistern im Verbund CARE-FAM-NET
Wiegand-Grefe, S., Denecke, J. & CARE-FAM-NET Studiengruppe, 04.01.2022, In: MONATSSCHR KINDERH. 170, p. 44 - 51 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
A novel homozygous synonymous variant further expands the phenotypic spectrum of POLR3A-related pathologies
Lessel, D., Rading, K., Campbell, S. E., Thiele, H., Altmüller, J., Gordon, L. B. & Kubisch, C., 01.2022, In: AM J MED GENET A. 188, 1, p. 216-223 8 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Auswirkungen der Corona Pandemie auf die Notfallversorgung im Kindesalter und die zeitliche Entwicklung im Verlauf der Pandemie
Elrod, J., Mahaleh, S., Mohr, C., Boettcher, M., Dietze, N., Hübner, U., Koch, B., Steinbrink, A., Harandipour, N., Gräfin von Waldersee, E., Shahsavari, S., Reinshagen, K. & Königs, I., 01.2022, In: KLIN PADIATR. 234, 1, p. 33-41 9 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Development of standard definitions and grading for Maternal and Fetal Adverse Event Terminology
Spencer, R. N., Hecher, K., Norman, G., Marsal, K., Deprest, J., Flake, A., Figueras, F., Lees, C., Thornton, S., Beach, K., Powell, M., Crispi, F., Diemert, A., Marlow, N., Peebles, D. M., Westgren, M., Gardiner, H., Gratacos, E., Brodszki, J., Batista, A., Turier, H., Patel, M., Power, B., Power, J., Yaz, G. & David, A. L., 01.2022, In: PRENATAL DIAG. 42, 1, p. 15-26 12 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Disorders of Carbohydrate Absorption, Transmembrane Transport and Metabolism
Derks, T., Lubout, C., Woidy, M. & Santer, R., 01.2022, Physician’s Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases. Blau, N., Vici, C. D., Ferreira, C. R., Vianey-Saban, C. & van Karnebeek, C. D. M. (eds.). 2 ed. Springer Nature Switzerland, p. 649-700 52 p.Research output: SCORING: Contribution to book/anthology › Chapter › Research › peer-review
Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pompe Consortium
Ditters, I. A. M., Huidekoper, H. H., Kruijshaar, M. E., Rizopoulos, D., Hahn, A., Mongini, T. E., Labarthe, F., Tardieu, M., Chabrol, B., Brassier, A., Parini, R., Parenti, G., van der Beek, N. A. M. E., van der Ploeg, A. T., van den Hout, J. M. P. & European Pompe Consortium project group on classic infantile Pompe disease, 01.2022, In: LANCET CHILD ADOLESC. 6, 1, p. 28-37 10 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Fatal outcome of SARS-CoV-2 infection (B1.1.7) in a 4-year-old child
Menger, J., Apostolidou, S., Edler, C., Kniep, I., Kobbe, R., Singer, D. & Sperhake, J-P., 01.2022, In: INT J LEGAL MED. 136, 1, p. 189-192 4 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review