Wissenschaftliche Publikationen - UZH
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FORSCHUNGSMAGAZIN NR. 10/2016 BEILAGE Wissenschaftliche Publikationen Publikationsliste 2015 der Medizinischen und Chirurgischen Kliniken, der Abteilungen für Klinische Chemie und Biochemie, Intensivmedizin und Neo natologie, Anästhesie und Bilddiagnostik am Kinderspital Zürich. Originalarbeiten (referiert) Aebi M, Landolt MA, Mueller-Pfeiffer C, Anagnostopoulou P, Yammine S, Schmidt A, Schnyder U, Maier T, Mohler-Kuo M. Testing Korten I, Kieninger E, Mack I, Trachsel D, the «Sexually Abused-Abuser Hypothesis» in Hafen G, Moeller A, Casaulta C, Latzin P. Aalbers AM, van den Heuvel-Eibrink MM, Adolescents: A Population-Based Study. Arch False normal Lung Clearance Index in infants Baumann I, Dworzak M, Hasle H, Locatelli F, Sex Behav 44:2189-2199, 2015. with cystic fibrosis due to software algorithms. De Moerloose B, Schmugge M, Mejstrikova E, Pediatr Pulmonol 50:970-977, 2015. Nováková M, Zecca M, Zwaan CM, Te Aepli A, Kurth S, Tesler N, Jenni OG, Huber R. Marvelde JG, Langerak AW, van Dongen JJ, Caffeine Consuming Children and Adolescents Arrizza C, De Gottardi A, Foglia E, Baum- Pieters R, Niemeyer CM, van der Velden VH. Show Altered Sleep Behavior and Deep Sleep. gartner M, Gautschi M, Nuoffer JM. Reversal Bone marrow immunophenotyping by flow Brain Sci 5:441-455, 2015. of cardiomyopathy in propionic acidemia after cytometry in refractory cytopenia of childhood. liver transplantation: a 10-year follow-up. Ahting U, Mayr JA, Vanlander AV, Hardy SA, Haematologica 100:315-323, 2015. Transpl Int 28:1447-1450, 2015. Santra S, Makowski C, Alston CL, Zimmer- Abdalla EM, Rohrbach M, Bürer C, Kraenzlin mann FA, Abela L, Plecko B, Rohrbach M, Aurich-Schuler T, Warken B, Graser JV, M, El-Tayeby H, Elbelbesy MF, Nabil A, Giunta Spranger S, Seneca S, Rolinski B, Hagendorff Ulrich T, Borggraefe I, Heinen F, Meyer-Heim C . Kyphoscoliotic type of Ehlers-Danlos A, Hempel M, Sperl W, Meitinger T, Smet J, A, van Hedel HJ, Schroeder AS. Practical Syndrome (EDS VIA) in six Egyptian patients Taylor RW, Van Coster R, Freisinger P, recommendations for robot-assisted treadmill presenting with a homogeneous clinical Prokisch H, Haack TB. Clinical, biochemical, therapy (Lokomat) in children with cerebral phenotype. Eur J Pediatr 174:105-112, 2015. and genetic spectrum of seven patients with palsy: indications, goal setting, and clinical NFU1 deficiency. Front Genet 6:123, 2015. implementation within the WHO-ICF framework. Adel Fahmideh M, Lavebratt C, Schüz J, Neuropediatrics 46:248-260, 2015. Röösli M, Tynes T, Grotzer MA, Johansen C, Akacem LD, Simpkin CT, Carskadon MA, Kuehni CE, Lannering B, Prochazka M, Wright KP Jr, Jenni OG, Achermann P, Azzouzi I, Moest H, Wollscheid B, Schmugge Schmidt LS, Feychting M. CCDC26, CDKN2BAS, LeBourgeois MK. The timing of the circadian M, Eekels JJ, Speer O. Deep sequencing and RTEL1 and TERT Polymorphisms in pediatric clock and sleep differ between napping and proteomic analysis of the microRNA-induced brain tumor susceptibility. Carcinogenesis non-napping toddlers. PLoSOne 10:e0125181, silencing complex in human red blood cells. Exp 36:876-882, 2015. 2015. Hematol 43:382-392, 2015.
PUBLIKATIONSLISTE 2015 Baumann P, Fouzas S, Pramana I, Grass B, Bijarnia-Mahay S, Häberle J, Rüfenacht V, Adams M, Frey B, Bernet V, Latal B. The Niesse O, Bührer C, Spanaus K, Wellmann S. Shigematsu Y, Saxena R, Verma IC. Citrin impact of a register on the management of Plasma Proendothelin-1. Plasma Proendothe- deficiency: A treatable cause of acute psychosis neonatal cooling in Switzerland. Early Hum Dev lin-1 as an Early Marker of Bronchopulmonary in adults. Neurol India 63:220-222, 2015. 91:277-284, 2015. Dysplasia. Neonatology 108:293-296, 2015. Bode SF, Ammann S, Al-Herz W, Bataneant Brotschi B, Hug MI, Kretschmar O, Rizzi M, Bausch-Fluck D, Hofmann A, Bock T, Frei AP, M, Dvorak CC, Gehring S, Gennery A, Gilmour Albisetti M. Incidence and predictors of cardiac Cerciello F, Jacobs A, Moest H, Omasits U, KC, Gonzalez-Granado LI, Groß-Wieltsch U, catheterisation-related arterial thrombosis in Gundry RL, Yoon C, Schiess R, Schmidt A, Ifversen M, Lingman-Framme J, Matthes- children. Heart 101:948-953, 2015. Mirkowska P, Härtlová A, Van Eyk JE, Martin S, Mesters R, Meyts I, van Montfrans Buder K, Latal B, Nef S, Neuhaus TJ, Laube Bourquin JP, Aebersold R, Boheler KR, JM, Pachlopnik Schmid J, Pai SY, Soler-Pala- GF, Spartà G. Neurodevelopmental long-term Zandstra P, Wollscheid B. A mass spectromet- cin P, Schuermann U, Schuster V, Seidel MG, outcome in children after hemolytic uremic ric-derived cell surface protein atlas. PLoS One Speckmann C, Stepensky P, Sykora KW, Tesi syndrome. Pediatr Nephrol 30:503-513, 2015. 10: e0121314, 2015. B, Vraetz T, Waruiru C, Bryceson YT, Moshous D, Lehmberg K, Jordan MB, Ehl S; Inborn Burda P, Hochuli M. Hepatic glycogen storage Bergstraesser E. Pädiatrische Palliative Care: Errors Working Party of the EBMT. The disorders: what have we learned in recent Was muss der Kinder- oder Hausarzt wissen? syndrome of hemophagocytic lymphohistiocyto- years? Curr Opin Clin Nutr Metab Care Ars Medici 9:484-487, 2015. sis in primary immunodeficiencies: implications 18:415-421, 2015. Bergstraesser E, Inglin S, Hornung R, for differential diagnosis and pathogenesis. Haematologica 100:978-988, 2015. Burda P, Kuster A, Hjalmarson O, Suormala T, Landolt MA. Dyadic coping of parents after the Bürer C, Lutz S, Roussey G, Christa L, death of a child. Death Stud 39:128-138, 2015. Bollmann S, Ghisleni C, Poil SS, Martin E, Asin-Cayuela J, Kollberg G, Andersson BA, Bergstraesser E, Zimmermann K, Eskola K, Ball J, Eich-Höchli D, Edden RA, Klaver P, Watkins D, Rosenblatt DS, Fowler B, Holme E, Luck P, Ramelet AS, Cignacco E. Paediatric Michels L, Brandeis D, O’Gorman RL. Froese DS, Baumgartner MR. Characterizati- end-of-life care needs in Switzerland: current Developmental changes in gamma-aminobuty- on and review of MTHFD1 deficiency: four new practices, and perspectives from parents and ric acid levels in attention-deficit/hyperactivity patients, cellular delineation and response to professionals. A study protocol. J Adv Nurs 71: disorder. Transl Psychaitry 5:e589, 2015. folic and folinic acid treatment. J Inherit Metab 1940-1947, 2015. Dis 38:863-872, 2015. Boltshauser E, Scheer I, Huisman TA, Poretti Bergstraesser E. Wann sollte Palliative Care A. Cerebellar cysts in children: a pattern Burda P, Schäfer A, Suormala T, Rummel T, bei Kindern mit lebenslimitierenden Erkrankun- recognition approach. Cerebellum 14:308-316, Bürer C, Heuberger D, Frapolli M, Giunta C, gen beginnen? Praxis 104:287-291, 2015. 2015. Sokolová J, Vlášková H, Kožich V, Koch HG, Fowler B, Froese DS, Baumgartner MR. Bergsträsser E. Pädiatrische Palliative Care: Bonati U, Hafner P, Schädelin S, Schmid M, Insights into severe 5,10-methylenetetrahydro- Was muss der Kinder- oder Hausarzt wissen? Naduvilekoot Devasia A, Schroeder J, Zuesli folate reductase deficiency: molecular genetic Pädiatrie 3:29-32, 2015. S, Pohlman U, Neuhaus C, Klein A, Sinnreich and enzymatic characterization of 76 patients. M, Haas T, Gloor M, Bieri O, Fischmann A, Bertram H, Emmel M, Ewert P, Grohmann J, Hum Mutat 36:611-621, 2015. Fischer D. Quantitative muscle MRI: A powerful Haas NA, Jux C, Kehl HG, Kitzmüller E, surrogate outcome measure in Duchenne Burrage LC, Sun Q, Elsea SH, Jiang MM, Kretschmar O, Müller G, Wiebe W; Investiga- muscular dystrophy. Neuromuscul Disord Nagamani SC, Frankel AE, Stone E, Alters SE, tors Of The Working Group Interventional 25:679-685, 2015. Johnson DE, Rowlinson SW, Georgiou G (incl. Cardiology Of The German Society Of Baumgartner MR, Stricker T); Members of Pediatric Cardiology. Stenting of Native Right Bosemani T, Orman G, Boltshauser E, Tekes Urea Cycle Disorders Consortium, Lee BH. Ventricular Outflow Tract Obstructions in A, Huisman TA, Poretti A. Congenital Human recombinant arginase enzyme reduces Symptomatic Infants. J Interv Cardiol abnormalities of the posterior fossa. Radiogra- plasma arginine in mouse models of arginase 28:279-287, 2015. phics 35:200-220, 2015. deficiency. Hum Mol Genet 24:6417-6427, Bettex DA, Wanner PM, Bosshart M, Balmer Bosemani T, Baum J, Meoded A, Boltshauser 2015. C, Knirsch W, Dave H, Dillier C, Bürki C, Hug E, Huisman TA, Poretti A. Impaired growth and Campistol J, Plecko B. Treatable newborn and M, Seifert B, Spahn DR, Beck-Schimmer B. abnormal microstructure of supratentorial gray infant seizures due to inborn errors of Role of sevoflurane in organ protection during and white matter regions in a child with Joubert metabolism. Epileptic Disord 17:229-242, 2015. cardiac surgery in children: a randomized syndrome. Neurographics 5:209-216, 2015. controlled trial. Interact Cardiovasc Thorac Chaabane C, Heizmann CW, Bochaton-Piallat Bozinov O, Grotzer MA, Sarnthein J. Intraop- Surg Int J Cardiol 187:144-145, 2015. ML. Extracellular S100A4 induces smooth erative Monitoring of Facial Nerve Motor- muscle cell phenotypic transition mediated by Bielas H, Jud A, Lips U, Reichenbach J, Evoked Potentials in Children. Worls Neurosurg RAGE. Biochim Biophys Acta 1853:2144-2157, Wieser I, Landolt MA Preliminary Evidence for 84:786-794, 2015. 2015. a Compromised T-Cell Compartment in Brotschi B, Grass B, Ramos G, Beck I, Held U, Maltreated Children with Depression and Chen T, Michels L, Supekar K, Kochalka J, Hagmann C; National Asphyxia Cooling Posttraumatic Stress Disorder. Neuroimmuno- Ryali S, Menon V. Role of the anterior insular Register Group, Meyer P, Zeilinger G, modulation 22:303-310, 2015. cortex in integrative causal signaling during Schulzke SM, Wellmann S, Wagner B, multisensory auditory-visual attention. Eur J Bigler A, Yammine S, Singer F, Riedel T, Daetwyler K, Nelle M, Bär W, Scharrer B, Neurosci 41:264-274, 2015. Latzin P. Feasibility of automated slope III and Tolsa JF, Truttmann A, Schneider J, Pfister Scond analysis in children. Pediatr Pulmonol RE, Berger TM, Fontana M, Micallef JP, 50:805-813, 2015. Birkenmayer A, Bucher HU, Natalucci G, 2
PUBLIKATIONSLISTE 2015 Chin SH, Item F, Wueest S, Zhou Z, Wiede- functional correction of X-linked chronic non-severe haemophilia across Europe. mann MS, Gai Z, Schoenle EJ, Kullak-Ublick granulomatous disease in patient-derived Thromb Haemost 114:670-675, 2015. GA, Al-Hasani H, Konrad D. Opposing effects induced pluripotent stem cells. Biomaterials Fišer K, Slámová L, Bourquin JP, Trka J, of reduced kidney mass on liver and skeletal 69: 191-200, 2015. Starý J, Hrušák O, Mejstříková E . Letter to muscle insulin sensitivity in obese mice. Eckert C, Hagedorn N, Sramkova L, Mann G, the editor. Reprogramming of B cell acute Diabetes 64:1131-1141, 2015. Panzer-Grümayer R, Peters C, Bourquin JP, lymphoblastic leukemia cells: do we need to Chowdhury FA, O’Gorman RL, Nashef L, Klingebiel T, Borkhardt A, Cario G, Alten J, shoot a moving target? Proc Natl Acad Sci USA Elwes RD, Edden RA, Murdoch JB, Barker GJ, Escherich G, Astrahantseff K, Seeger K, 112:E3455, 2015. Richardson MP. Investigation of glutamine and Henze G, von Stackelberg A. Monitoring Fleming L, Murray C, Bansal AT, Hashimoto S, GABA levels in patients with idiopathic minimal residual disease in children with Bisgaard H, Bush A, Frey U, Hedlin G, Singer generalized epilepsy using MEGAPRESS. J high-risk relapses of acute lymphoblastic F, van Aalderen WM, Vissing NH, Zolkipli Z, Magn Reson Imaging 41:694-699, 2015. leukemia: prognostic relevance of early and late Selby A, Fowler S, Shaw D, Chung KF, Sousa assessment. Leukemia 29:1648-1655, 2015. Creutzig U, Dworzak M, Zimmermann M, AR, Wagers S, Corfield J, Pandis I, Rowe A, Bourquin JP, Gruhn B, Fleischhack G, Graf N, Elsayed SM, Phillips JB, Heller R, Thoenes M, Formaggio E, Sterk PJ, Roberts G; U-BIO- Klingebiel T, Kremens B, Lehrnbecher T, von Elsobky E, Nürnberg G, Nürnberg P, Seland S, PRED Study Group. The burden of severe Neuhoff C, von Stackelberg A, Stray J, Ebermann I, Altmüller J, Thiele H, Toliat M, asthma in childhood and adolescence: results Reinhardt D. Randomised Introduction of Körber F, Hu XJ, Wu YD, Zaki MS, Abdel- from the paediatric U-BIOPRED cohorts. Eur 2-CDA as Intensification during Consolidation Salam G, Gleeson J, Boltshauser E, Wester- Respir J 46: 1322-1333, 2015. for Children with High-risk AML--results from field M, Bolz HJ. Non-manifesting AHI1 Forster M, Szymczak S, Ellinghaus D, Study AML-BFM 2004. Klin Padiatr 227:116- truncations indicate localized loss-of-function Hemmrich G, Rühlemann M, Kraemer L, 122, 2015. tolerance in a severe Mendelian disease gene. Mucha S, Wienbrandt L, Stanulla M (incl. Hum Mol Genet 24:2594-2603, 2015. Dantonello TM, Stark M, Timmermann B, Bourquin JP); UFO Sequencing Consortium Fuchs J, Selle B, Linderkamp C, Handgretin- Eskola K, Bergstraesser E, Zimmermann K, within I-BFM Study Group, Franke A. Vy-PER: ger R, Hagen R, Feuchtgruber S, Kube S, Cignacco E. Paediatric end-of-life care in the eliminating false positive detection of virus Kosztyla D, Kazanowska B, Ladenstein R, home care setting (PELICAN HOME) - a mixed integration events in next generation sequenci- Niggli F, Ljungman G, Bielack SS, Klingebiel methods study protocol. J Adv Nurs 71:204- ng data. Sci Rep 5:11534, 2015. T, Koscielniak E; Cooperative Weichteilsar- 213, 2015. Froese DS, Kopec J, Fitzpatrick F, Schuller M, kom Studiengruppe [CWS]. Tumour volume Fattinger S, Schmitt B, Bölsterli Heinzle BK, McCorvie TJ, Chalk R, Plessl T, Fettelschoss reduction after neoadjuvant chemotherapy Critelli H, Jenni OG, Huber R. Impaired slow V, Fowler B, Baumgartner MR, Yue WW. impacts outcome in localised embryonal wave sleep downscaling in patients with Structural insights into the MMACHC-MMADHC rhabdomyosarcoma. Pediatr Blood Cancer infantile spasms. Eur J Paediatr Neurol protein complex involved in vitamin B12 62:16-23, 2015. 19:134-142, 2015. trafficking. J Biol Chem 290:29167-29177, Dertschnig S, Hauri-Hohl MM, Vollmer M, 2015. Fischer U, Forster M, Rinaldi A, Risch T, Holländer GA, Krenger W. Impaired thymic Sungalee S, Warnatz HJ, Bornhauser B, Froese DS, Michaeli A, McCorvie TJ, Krojer T, expression of tissue-restricted antigens Gombert M, Kratsch C, Stütz AM, Sultan M, Sasi M, Melaev E, Goldblum A, Zatsepin M, licenses the de novo generation of autoreactive Tchinda J, Worth CL, Amstislavskiy V, Lossos A, Álvarez R, Escribá PV, Minassian CD4+ T cells in acute GVHD. Blood 125:2720- Badarinarayan N, Baruchel A, Bartram T, BA, von Delft F, Kakhlon O, Yue WW. Struc- 2730, 2015. Basso G, Canpolat C, Cario G, Cavé H, Dakaj tural basis of glycogen branching enzyme Dietz V, Macauda G, Schrafl-Altermatt M, D, Delorenzi M, Dobay MP, Eckert C, Elling- deficiency and pharmacologic rescue by rational Wirz M, Kloter E, Michels L. Neural coupling of haus E, Eugster S, Frismantas V, Ginzel S, peptide design. Hum Mol Genet 24:5667- cooperative hand movements: a reflex and fMRI Haas OA, Heidenreich O, Hemmrich-Stanisak 5676, 2015. study. Cereb Cortex 25:948-958, 2015. G, Hezaveh K, Höll JI, Hornhardt S, Huse- Furlano RI, Basek P, Müller P, Bieli C, mann P, Kachroo P, Kratz CP, Kronnie GT, Díez-Fernández C, Gallego J, Häberle J, Braegger CP, Barben J, Hammer J, Moeller Marovca B, Niggli F, McHardy AC, Moorman Cervera J, Rubio V. The study of carbamoyl A, Trachsel D. Pulmonary Function Test AV, Panzer-Grümayer R, Petersen BS, Raeder phosphate synthetase 1 deficiency sheds light Abnormalities in Pediatric Inflammatory Bowel B, Ralser M, Rosenstiel P, Schäfer D, on the mechanism for switching on/off the urea Disease. Respiration 90:279-286, 2015. Schrappe M, Schreiber S, Schütte M, Stade B, cycle. J Genet Genomics 42:249-260, 2015. Thiele R, Weid Nv, Vora A, Zaliova M, Zhang L, Galson JD, Trück J, Fowler A, Münz M, Dittrich S, Tuerk M, Haaker G, Greim V, Zichner T, Zimmermann M, Lehrach H, Cerundolo V, Pollard AJ, Lunter G, Kelly DF. Buchholz A, Burkhardt B, Fujak A, Trollmann Borkhardt A, Bourquin JP, Franke A, Korbel In-Depth Assessment of Within-Individual and R, Schmid A, Schroeder R. Cardiomyopathy in JO, Stanulla M, Yaspo ML. Genomics and drug Inter-Individual Variation in the B Cell Receptor Duchenne Muscular Dystrophy: Current Value of profiling of fatal TCF3-HLF-positive acute Repertoire. Front Immunol 6:531, 2015. Clinical, Electrophysiological and Imaging lymphoblastic leukemia identifies recurrent mutation patterns and therapeutic options. Nat Galson JD, Clutterbuck EA, Trück J, Ramasa- Findings in Children and Teenagers. Klin Genet 47:1020-1029, 2015. my MN, Münz M, Fowler A, Cerundolo V, Padiatr 227:225-231, 2015. Pollard AJ, Lunter G, Kelly DF. BCR repertoire Dreyer AK, Hoffmann D, Lachmann N, Fischer K, Iorio A, Lassila R, Peyvandi F, sequencing: different patterns of B-cell Ackermann M, Steinemann D, Timm B, Siler Calizzani G, Gatt A, Lambert T, Windyga J, activation after two Meningococcal vaccines. U, Reichenbach J, Grez M, Moritz T, Scham- Gilman EA, Makris M (incl. Schmugge M, Immunol Cell Biol 93:885-895, 2015. bach A, Cathomen T. TALEN-mediated Albisetti M). Inhibitor development in 3
PUBLIKATIONSLISTE 2015 Gaynor JW, Stopp C, Wypij D, Andropoulos DB, Grass B, Weibel L, Hagmann C, Brotschi B; Hahn A, Praetorius S, Karabul N, Dießel J, Atallah J, Atz AM, Beca J, Donofrio MT, National Asphyxia and Cooling Register Schmidt D, Motz R, Haase C, Baethmann M, Duncan K, Ghanayem NS, Goldberg CS, Group. Subcutaneous fat necrosis in neonates Hennermann JB, Smitka M, Santer R, Hövels-Gürich H, Ichida F, Jacobs JP, Justo R, with hypoxic ischaemic encephalopathy Muschol N, Meyer A, Marquardt T, Huemer M, Latal B, Li JS, Mahle WT, McQuillen PS, registered in the Swiss National Asphyxia and Thiels C, Rohrbach M, Seyfullah G, Mengel E. Menon SC, Pemberton VL, Pike NA, Pizarro C, Cooling Register. BMC Pediatr 15:73, 2015. Outcome of patients with classical infantile Shekerdemian LS, Synnes A, Williams I, pompe disease receiving enzyme replacement Grotzer MA, Schültke E, Bräuer-Krisch E, Bellinger DC, Newburger JW; International therapy in Germany. JIMD Rep 20:65-75, 2015. Laissue JA. Microbeam radiation therapy: Cardiac Collaborative on Neurodevelopment clinical perspectives. Phys Med 31:564-567, Hänggi P, Telezhkin V, Kemp PJ, Schmugge M, (ICCON) Investigators. Neurodevelopmental 2015. Gassmann M, Goede JS, Speer O, Bogdanova outcome after cardiac surgery. Pediatrics A. Functional plasticity of the N-methyl-d- 135:816-825, 2015. Grotzer MA, Shalaby T, Fiaschetti G, aspartate receptor in differentiating human Baulande S, Gerber NU, Baumgartner M. Gerber NU, Müller A, Bellut D, Bozinov O, erythroid precursor cells. Am J Physiol Cell Detection and quantification of extracellular Berger C, Grotzer MA. Ventricular Catheter Physiol 308:C993-C1007, 2015. microRNAs in medulloblastoma. JCMT 2: 67, Systems with Subcutaneous Reservoirs 2015. Harbort CJ, Soeiro-Pereira PV, von Bernuth H, (Ommaya Reservoirs) in Pediatric Patients with Kaindl AM, Costa-Carvalho BT, Condino-Neto Brain Tumors: Infections and Other Complica- Grunt S, Mazenauer L, Buerki SE, Boltshau- A, Reichenbach J, Roesler J, Zychlinsky A, tions. Neuropediatrics 46:401-409, 2015. ser E, Mori AC, Datta AN, Fluss J, Mercati D, Amulic B. Neutrophil oxidative burst activates Keller E, Maier O, Poloni C, Ramelli GP, Ghisleni C, Bollmann S, Biason-Lauber A, ATM to regulate cytokine production and apopto- Schmitt-Mechelke T, Steinlin M. Incidence and Poil SS, Brandeis D, Martin E, Michels L, sis. Blood 126: 2842-2851, 2015. outcomes of symptomatic neonatal arterial Hersberger M, Suckling J, Klaver P, ischemic stroke. Pediatrics 135:e1220-1228, Häusler M, Aksoy A, Alber M, Altunbasak S, O’Gorman RL. Effects of Steroid Hormones on 2015. Angay A, Arsene OT, Craiu D, Hartmann H, Sex Differences in Cerebral Perfusion. PLoS Hiz-Kurul S, Ichiyama T, Iliescu C, Jocic- One10:e0135827, 2015. Guetg A, Mariotta L, Bock L, Herzog B, Jakubi B, Korinthenberg R, Köse G, Lukban Fingerhut R, Camargo SM, Verrey F. Essential Ghisleni C, Bollmann S, Poil SS, Brandeis D, MB, Ozkan M, Patcheva I, Teichler J, Vintan M, amino acid transporter Lat4 (Slc43a2) is Martin E, Michels L, O’Gorman RL, Klaver P. Yaramis A, Yarar C, Yis U, Yuksel D, Anlar B. A required for mouse development. J Physiol Subcortical glutamate mediates the reduction of Multinational Survey on Actual Diagnostics and 593:1273-1289, 2015. short-range functional connectivity with age in a Treatment of Subacute Sclerosing Panencepha- developmental cohort. J Neurosci 35:8433- Grunt S, Mazenauer L, Buerki SE, Boltshau- litis. Neuropediatrics 46:377-384, 2015. 8441, 2015. ser E, Mori AC, Datta AN, Fluss J, Mercati D, Heiber S, Zulewski H, Zaugg M, Kiss C, Keller E, Maier O, Poloni C, Ramelli GP, Gianinazzi ME, Rueegg CS, Zimmerman K, Baumgartner M. Successful pregnancy in a Schmitt-Mechelke T, Steinlin M. Incidence and Kuehni CE, Michel G (incl. Bergsträsser E, woman with maple syrup urine disease: case outcomes of symptomatic neonatal arterial Niggli F); Swiss Paediatric Oncology Group. report. JIMD Rep 21:103-107, 2015. ischemic stroke. Pediatrics 135:e1220-1228, Intra-rater and inter-rater reliability of a 2015. Hermenau K, Eggert I, Landolt MA, Hecker T. medical record abstraction study on transition Neglect and perceived stigmatization impact of care after childhood cancer. PLoS One Haag AC, Zehnder D, Landolt MA. Guilt is psychological distress of orphans in Tanzania. 10:e0124290, 2015. associated with acute stress symptoms in Eur J Psychotraumatol 6:28617, 2015. children after road traffic accidents. Eur J Giarrana ML, Joset P, Sticht H, Robb S, Psychotraumatol 6:29074, 2015. Herová M, Schmid M, Gemperle C, Hersber- Steindl K, Rauch A, Klein A. A severe ger M. ChemR23, the receptor for chemerin congenital myasthenic syndrome with «dropped Haas T, Spielmann N, Restin T, Seifert B, and resolvin E1, is expressed and functional on head» caused by novel MUSK mutations. Henze G, Obwegeser J, Min K, Jeszenszky D, M1 but not on M2 macrophages. J Immunol Muscle Nerve 52:668-673, 2015. Weiss M, Schmugge M. Higher fibrinogen 194:2330-2337, 2015. concentrations for reduction of transfusion Giorgi C, Boro A, Rechfeld F, Lopez-Garcia LA, requirements during major paediatric surgery: Hochueli M. Alternative nighttime nutrition Gierisch ME, Schäfer BW, Niggli FK. PI3K/ A prospective randomised controlled trial. Br J regimens in glycogen storage disease type I: a AKT signaling modulates transcriptional Anaesth 115:234-243, 2015. controlled crossover study. J Inherit Metab Dis expression of EWS/FLI1 through specificity 38:1093-1098, 2015 protein 1. Oncotarget 6: 28895-28910, 2015. Häberle J, Huemer M. Evaluation of Imple- mentation, Adaptation and Use of the Recently Hojsak I, Braegger C, Bronsky J, Campoy C, Glanzmann C, Frey B, Meier CR, Vonbach P. Proposed Urea Cycle Disorders Guidelines. Colomb V, Decsi T, Domellöf M, Fewtrell M, Analysis of medication prescribing errors in JIMD Reports 21:65-70, 2015. Mis NF, Mihatsch W, Molgaard C, van critically ill children. Eur J Pediatr 174:1347- Goudoever J; ESPGHAN Committee on 1355, 2015. Hagerman A, Posfay-Barbe KM, Duppenthaler Nutrition. Arsenic in rice: a cause for concern. A, Heininger U, Berger C; PIGS Influenza Goeggel Simonetti B, Cavelti A, Arnold M, Bigi J Pediatr Gastroenterol Nutr 60:142-145, 2015. Study Group . Clinical characteristics and S, Regényi M, Mattle HP, Gralla J, Fluss J, outcomes in children hospitalised with Hu L, Pandey AV, Balmer C, Eggimann S, Weber P, Hackenberg A, Steinlin M, Fischer pandemic influenza A/H1N1/09 virus infection Rüfenacht V, Nuoffer JM, Häberle J Unstable U. Long-term outcome after arterial ischemic – a nationwide survey by the Pediatric Infectious argininosuccinate lyase in variant forms of the stroke in children and young adults. Neurology Diseases Group of Switzerland. Swiss Med urea cycle disorder argininosuccinic aciduria. J 84:1941-2947, 2015. Wkly 145:w14171, 2015. Inherit Metab Dis 38:815-827, 2015. 4
PUBLIKATIONSLISTE Hu L, Ibrahim K, Stucki M, Frapolli M, Decreased Oxygen Affinity. Hemoglobin Peña-Quintana L, Ramadža DP, Rodrigues E, Shahbeck N, Chaudry FA, Görg B, Häussinger 39:432-434, 2015. Scholl-Bürgi S, Sokal E, Staufner C, Summar B, Penberthy WT, Ben-Omran T, Häberle J. ML, Thompson N, Vara R, Pinera IV, Walter Keller H, Müller LM, Markic G, Schraner T, Secondary NAD(+) deficiency in the inherited JH, Williams M, Burgard P. The phenotypic Kellenberger CJ, Saurenmann RK. Is early defect of glutamine synthetase. J Inherit Metab spectrum of organic acidurias and urea cycle TMJ involvement in children with juvenile Dis 38:1075-1083, 2015. disorders. Part 1: the initial presentation. J idiopathic arthritis clinically detectable? Clinical Inherit Metab Dis 38:1041-1057, 2015. 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PUBLIKATIONSLISTE 2015 BOLD-network activation modulates EEG Scharschmidt BF (in cl. Baumgartner MR, subunit B family genes PPP2R5B, PPP2R5C and spectral activity during working memory Stricker T). Blood ammonia and glutamine as PPP2R5D cause human overgrowth. Hum Mol retention. Front Behav Neurosci 9:111, 2015. predictors of hyperammonemic crises in Genet 24:4775-4779, 2015. patients with urea cycle disorder. Genet Med Krueger JJ, Brotschi B, Balmer C, Bernet V, Lupatsch JE, Kuehni CE, Niggli F, Ammann 17:561-568, 2015. Latal B. Postoperative Hyperglycemia and RA, Egger M, Spycher BD. Population mixing 4-Year Neurodevelopmental Outcome in Leh SE, Kälin AM, Schroeder C, Park MT, and the risk of childhood leukaemia in Children Operated for Congenital Heart Disease. Chakravarty MM, Freund P, Gietl AF, Riese F, Switzerland: a census-based cohort study. Eur J J Pediatr 167:1253-1258, 2015. Kollias S, Hock C, Michels L. 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Egli A, Garzoni C, Binet I, Weisser M, Berger Kluger G, Hoffjan S, Spranger S, Behnecke A, C, Cusini A, Meylan P, Pascual M, Bochud PY; Lindert U, Weis MA, Rai J, Seeliger F, Ferbert A, Hahn A, Oehl-Jaschkowitz B, Swiss Transplant Cohort Study Influence of Hausser I, Leeb T, Eyre D, Rohrbach M, Graul-Neumann L, Diepold K, Schreyer I, IFNL3/4 polymorphisms on the incidence of Giunta C. Molecular Consequences of the Bernhard MK, Mueller F, Siebers-Renelt U, cytomegalovirus infection after solid-organ SERPINH1/HSP47 Mutation in the Dachshund Beleza-Meireles A, Uyanik G, Janssens S, transplantation. J Infect Dis 211:906-914, 2015. Natural Model of Osteogenesis Imperfecta. J Boltshauser E, Winkler J, Schuierer G, Hehr Biol Chem: 290:17679-17689, 2015. Markic G, Müller L, Patcas R, Roos M, U. 47 patients with FLNA associated periven- Lochbühler N, Peltomäki T, Karlo CA, Ullrich tricular nodular heterotopia. Orphanet J Rare Lochbühler N, Saurenmann RK, Müller L, O, Kellenberger CJ. Assessing the length of Dis 10:134, 2015. Kellenberger CJ. Magnetic Resonance Imaging the mandibular ramus and the condylar Assessment of Temporomandibular Joint Latal B, Kellenberger C, Dimitropoulos A, process: a comparison of OPG, CBCT, CT, MRI, Involvement and Mandibular Growth Following Hagmann C, Balmer C, Beck I, Bernet V. Can and lateral cephalometric measurements. Eur J Corticosteroid Injection in Juvenile Idiopathic preoperative cranial ultrasound predict early Orthod 37:13-21, 2015. Arthritis. J Rheumatol 42:1514-1522, 2015. neurodevelopmental outcome in infants with Marschall K, Hoernes M, Bitzenhofer-Grüber congenital heart disease? Dev Med Child Lødrup Carlsen KC, Pijnenburg MW (incl. M, Jandus P, Duppenthaler A, Wuillemin WA, Neurol 57:639-644, 2015. Moeller A); ERS Task Force Monitoring Rischewski J, Boyman O, Heininger U, Hauser Asthma in Children. Monitoring asthma in Laube GF, Sarkissian A, Nazaryan H, Spartà T, Steiner U, Posfay-Barbe K, Seebach J, childhood. Eur Respir Rev 24:178-186, 2015. G, Sanamyan A, Babloyan A, Leumann E, Recher M, Hess C, Helbling A, Reichenbach J Gaspert A. Native kidney biopsies in Armenian Lou PH, Lucchinetti E, Zhang L, Affolter A, (incl. Pachlopnik Schmid J); Swiss PID and Swiss children: high prevalence of Gandhi M, Zhakupova A, Hersberger M, Registry Working Group. The Swiss National amyloidosis in Yerevan and of IgA nephropathy Hornemann T, Clanachan AS, Zaugg M Registry for Primary Immunodeficiencies: in Zurich. Virchows Arch 466:77-83, 2015. Propofol (Diprivan®) and Intralipid® exacerbate report on the first 6 years’ activity from 2008 to insulin resistance in type-2 diabetic hearts by 2014. Clin Exp Immunol 182:45-50, 2015. Lee B, Diaz GA, Rhead W, Lichter-Konecki U, impairing GLUT4 trafficking. Anesth Analg Feigenbaum A, Berry SA, Le Mons C, Bartley Maurer U, Brem S, Liechti M, Maurizio S, 120:329-340, 2015. JA, Longo N, Nagamani SC, Berquist W, Michels L, Brandeis D. 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PUBLIKATIONSLISTE 2015 DR Jr, Gospe SM Jr. Intragenic deletions of Padden B, Scheer I, Brotschi B, Wohlrab G, Poltz N, Wyschkon A, Höse A, von Aster M, ALDH7A1 in pyridoxine-dependent epilepsy Latal B, Bernet V. Does amplitude-integrated Esser G. Vom Fingergefühl zum Rechnen: caused by Alu-Alu recombination. Neurology electroencephalogram background pattern Bedeutung der Fingergnosie für die Vorhersage 85:756-762, 2015. correlate with cerebral injury in neonates with numerisch-arithmetischer Fertigkeiten. Lernen hypoxic-ischaemic encephalopathy? J Paediatr und Lernstörungen 4:177-193, 2015. Messerli-Buergy N, Arhab A, Stülb K, Child Health 51:180-185, 2015. Aschmann C, Brunner E, Zysset A, Kake- Poretti A, Denecke J, Miller DC, Schiffmann beeke T, Meyer A, Munsch S, Jenni O, Palhais B, Præstegaard VS, Sabaratnam R, H, Buhk JH, Grange DK, Doherty D, Boltshau- Kriemler S, Puder J. The influence of stress Doktor TK, Lutz S, Burda P, Suormala T, ser E. Brainstem disconnection: two additional exposure on physiological stress responses and Baumgartner M, Fowler B, Bruun GH, patients and expansion of the phenotype. body composition in preschool children. Andersen HS, Kožich V, Andresen BS. Neuropediatrics 46:139-144, 2015. Psychoneuroendocrinology 61:41-42, 2015. Splice-shifting oligonucleotide (SSO) mediated Porter LF, Gallego-Pinazo R, Keeling CL, blocking of an exonic splicing enhancer (ESE) Meyer Sauteur PM, Leimer N, Chan PK, Relly Kamieniorz M, Zoppi N, Colombi M, Giunta C, created by the prevalent c.903+469T>C MTRR C, Seidl K, Zinkernagel AS, Berger C. Methicil- Bonshek R, Manson FD, Black GC. Bruch’s mutation corrects splicing and restores enzyme lin-resistant Staphylococcus aureus eradication membrane abnormalities in PRDM5-related activity in patient cells. Nucleic Acids Res in young infants should include the diaper area brittle cornea syndrome. Orphanet J Rare Dis 43:4627- 4639, 2015. and treat housing contacts. Acta Paediatr 10:145, 2015. e581-e584, 2015. Passweg JR, Schanz U, Chalandon Y, Güngör Poryazova R, Huber R, Khatami R, Werth E, T, Baldomero H, Heim D, Nair G, Medinger M, Mitteregger E, Marsico P, Balzer J, van Brugger P, Barath K, Baumann CR, Bassetti Masouridi-Levrat S, de Faveri GN, Tiercy JM; Hedel HJ. Translation and construct validity of CL. Topographic sleep EEG changes in the acute Swiss Blood Stem Cell Transplantation Group. the Trunk Control Measurement Scale in and chronic stage of hemispheric stroke. J High-resolution HLA matching in unrelated children and youths with brain lesions. Res Dev Sleep Res 24:54-65, 2015. donor transplantation in Switzerland: differen- Disabil 45-46:343-352, 2015. tial impact of class I and class II mismatches Prader S, Spalinger J, Caduff J, Hürlimann S, Moeller A, Carlsen KH, Sly PD, Baraldi E, Pia- may reflect selection of nonimmunogenic or Rischewski J. Eosinophilic esophagitis as centini G, Pavord I, Lex C, Saglani S; ERS Task weakly immunogenic DRB1/DQB1 disparities. paraneoplastic syndrome in a patient with Force Monitoring Asthma in Children. Bone Marrow Transplant 50:1201-1205, 2015. ganglioneuroblastoma. Klin Padiatr 227:173- Monitoring asthma in childhood: lung function, 175, 2015. Patterson MC, Mengel E, Vanier MT, Schwie- bronchial responsiveness and inflammation. Eur rin B, Muller A, Cornelisse P, Pineda M (incl. Pritchard-Jones K, Bergeron C, de Camargo Respir Rev 24:204-215, 2015. Rohrbach M); NPC Registry investigators. B, van den Heuvel-Eibrink MM, Acha T, Niemeyer CM, Loh ML, Cseh A, Cooper T, Stable or improved neurological manifestations Godzinski J, Oldenburger F, Boccon-Gibod L, Dvorak CC, Chan R, Xicoy B, Germing U, during miglustat therapy in patients from the Leuschner I, Vujanic G, Sandstedt B, de Kojima S, Manabe A, Dworzak M, De international disease registry for Niemann-Pick Kraker J, van Tinteren H, Graf N (incl. Niggli Moerloose B, Starý J, Smith OP, Masetti R, disease type C: an observational cohort study. F); SIOP Renal Tumours Study Group. Catala A, Bergstraesser E, Ussowicz M, Fabri Orphanet J Rare Dis 10:65, 2015. Omission of doxorubicin from the treatment of O, Baruchel A, Cavé H, Zwaan M, Locatelli F, stage II-III, intermediate-risk Wilms’ tumour Penford G, Quandt D, Stumper O. Restrictive Hasle H, van den Heuvel-Eibrink MM, Flotho (SIOP WT 2001): an open-label, non-inferiority, atrial septum after the Fontan procedure. C, Yoshimi A. Criteria for evaluating response randomised controlled trial. Lancet 386:1156- Cardiol Young 26:574-578, 2015. and outcome in clinical trials for children with 1164, 2015. juvenile myelomonocytic leukaemia. Haemato- Peters C, Schrappe M, von Stackelberg A, Pugin F, Metz AJ, Wolf M, Achermann P, logica 100:315-323, 2015. Schrauder A, Bader P, Ebell W, Lang P, Jenni OG, Huber R. Local increase of sleep Sykora KW, Schrum J, Kremens B, Ehlert K, O’Gorman RL, Bucher HU, Held U, Koller BM, slow wave activity after three weeks of working Albert MH, Meisel R, Matthes-Martin S, Hüppi PS, Hagmann CF; Swiss EPO Neuro- memory training in children and adolescents. Gungor T, Holter W, Strahm B, Gruhn B, protection Trial Group. Tract-based spatial Sleep 38:607-614, 2015. Schulz A, Woessmann W, Poetschger U, statistics to assess the neuroprotective effect of Zimmermann M, Klingebiel T. Stem-cell Quandt D, Ramchandani B, Bhole V, Penford early erythropoietin on white matter develop- transplantation in children with acute lympho- G, Mehta C, Dhillon R, Stumper O. Initial ment in preterm infants. Brain 138:388-397, blastic leukemia: A prospective international experience with the cook formula balloon 2015. multicenter trial comparing sibling donors with expandable stent in congenital heart disease. Ohlander J, Huber SM, Schomaker M, matched unrelated donors-The ALL-SCT- Catheter Cardiovasc Interv 85:259-266, 2015. Heumann C, Schierl R, Michalke B, Jenni OG, BFM-2003 trial. J Clin Oncol 33:1265-1274, 2015. Rac J, Haas F, Schumacher A, Middeldorp JM, Caflisch J, Muñoz DM, von Ehrenstein OS, Delecluse HJ, Speck RF, Bernasconi M, Nadal Radon K. Correction: Risk Factors for Mercury Pijnenburg MW, Baraldi E, Brand PL, Carlsen D. Telomerase activity impacts on Epstein-Barr Exposure of Children in a Rural Mining Town in KH, Eber E, Frischer T, Hedlin G, Kulkarni N, virus infection of AGS cells. PLoS One Northern Chile. PLoS One 10: e0144527, 2015. Lex C, Mäkelä MJ, Mantzouranis E, Moeller A, 10:e0123645, 2015. Patcas R, Angst C, Kellenberger CJ, Schätzle Pavord I, Piacentini G, Price D, Rottier BL, Saglani S, Sly PD, Szefler SJ, Tonia T, Turner Recker F, Zaniew M, Böckenhauer D, Miglietti MA, Ullrich O, Markic G. Method of visualisa- S, Wooler E, Lødrup Carlsen KC. Monitoring N, Bökenkamp A, Moczulska A, Rogowska- tion influences accuracy of measurements in asthma in children. Eur Respir J 45:906-925, Kalisz A, Laube G, Said-Conti V, Kasap-Demir cone-beam computed tomography. J Cranio- 2015. B, Niemirska A, Litwin M, Siteń G, maxillofac Surg 43:1277-1283, 2015. Chrzanowska KH, Krajewska-Walasek M, 7
PUBLIKATIONSLISTE 2015 Sethi SK, Tasic V, Anglani F, Addis M, screen identifies KIAA0586 as mutated in Scherrer KS, Weitz M, Eisenack J, Truffer B, Wasilewska A, Szczepańska M, Pawlaczyk K, Joubert syndrome. eLife 4:e06602, 2015. Konrad D. Cushing syndrome after bilateral Sikora P, Ludwig M. Characterization of 28 lensectomy. Eur J Pediatr 174:399-401, 2015. Rottier BL, Eber E, Hedlin G, Turner S, Wooler novel patients expands the mutational and E, Mantzourani E, Kulkarni N (incl. Moeller Schiff M, Haberberger B, Xia C, Mohsen AW, phenotypic spectrum of Lowe syndrome. A); ERS Task Force Monitoring Asthma in Goetzman ES, Wang Y, Uppala R, Zhang Y, Pediatr Nephrol 30:931-943, 2015. Children. Monitoring asthma in childhood: Karunanidhi A, Prabhu D, Alharbi H, Reinards TH, Albers HM, Brinkman DM, management-related issues. Eur Respir Rev Prochownik EV, Haack T, Häberle J, Munnich Kamphuis SS, van Rossum MA, Girschick HJ, 24:194-203, 2015. 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