Wissenschaftliche Publikationen - UZH

Page created by Paul Howell
 
CONTINUE READING
FORSCHUNGSMAGAZIN
                                                         NR. 12/2018
                                                         BEILAGE
                                                                             Wissenschaftliche
                                                                             ­Publikationen
                                       Publikationsliste 2017 der Medizinischen und
                                       ­Chirurgischen Kliniken, der Abteilungen für ­
                                        Klinische Chemie und Biochemie, Intensivmedizin
                                        und N­ eonatologie, Anästhesie und Bilddiagnostik
                                        am K­ inderspital Zürich.

Artikel in wissenschaftlichen ­Zeitschriften

Abadir N, Schmidt M, Laube GF, Weitz M.             Saurenmann RK. Prevalence of Anti-infliximab        Adams N. Trauma-informed care for children
Imaging in children with unilateral ureteropelvic   Antibodies and Their Associated Co-factors in       in the ambulance: international survey among
junction obstruction: time to reduce investiga-     Children with Refractory Arthritis and/or Uvei-     pre-hospital providers. Eur J Psychotraumatol
tions? Eur J Pediatr 176:1173-1179, 2017.           tis: A Retrospective Longitudinal Cohort Study. J   8:1273587, 2017.
                                                    Rheumatol 44:224-341, 2017.
Abela L, Spiegel R, Crowther LM, Klein                                                                  Al Sayed MF, Ruckstuhl CA, Hilmenyuk
A, Steindl K, Papuc SM, Joset P, Zehavi Y,          Agyeman P, Barazzone C, Hammer J,                   T, Claus C, Bourquin JP, Bornhauser BC,
Rauch A, Plecko B, Simmons TL. Plasma               Heiniger U, Nadal D, Pfamatter JP, Posfay-          Radpour R, Riether C, Ochsenbein AF. CD70
metabolomics reveals a diagnostic metabolic         Barbe KM, Pfister RE. Konsensus Statement           reverse signaling enhances NK cell function and
fingerprint for mitochondrial aconitase (ACO2)      zur Prävention von Respiratory Syncytial Virus      immunosurveillance in CD27-expressing B-cell
deficiency. PLoS One 12:e0176363, 2017.             (RSV)-Infektionen mit dem humanisierten             malignancies. Blood 130:297-309, 2017.
                                                    monoklonalen Antikörper Palivizumab (Synagis):
Adams M, Braun J, Bucher HU, Puhan MA,                                                                  Ammann-Reiffer C, Bastiaenen CH, Meyer-
                                                    Update 2016. Paediatrica 28(2):14-16, 2017.
Bassler D, Von Wyl V (incl. Bernet V); Swiss                                                            Heim AD, van Hedel HJ. Effectiveness of
Neonatal Network. Comparison of three dif-          Agyeman P, Schlapbach LJ, Giannoni E,               robot-assisted gait training in children with cer-
ferent methods for risk adjustment in neonatal      Stocker M, Posfay-Barbe KL, Heininger U,            ebral palsy: a bicenter, pragmatic, randomized,
medicine. BMC Pediatr 17:106, 2017.                 Schindler M, Korten I, Konetzny G, Nieder-          cross-over trial (PeLoGAIT). BMC Pediatrics
                                                    Loher A, Kahlert CR, Donas A, Leone A, Hast-        17:64, 2017.
Aebi M, Mohler-Kuo M, Barra S, Schnyder U,
                                                    ers P, Relly C, Baer W, Kuehni CE, Aebi C,
Maier T, Landolt MA. Posttraumatic stress and                                                           Ammann-Reiffer C, Bastiaenen CHG, de
                                                    Berger C. Epidemiology of blood culture-proven
youth violence perpetration: A population-based                                                         Bie RA, van Hedel HJA. Interrater reliability
                                                    bacterial sepsis in children in Switzerland: a
cross-sectional study. Eur Psychiatry40:88-95,                                                          of two gait performance measures in children
                                                    population-based cohort study. The Lancet
2017.                                                                                                   with neuromotor disorders across two different
                                                    Child & Adolescent Helath 1: 124-133, 2017.
                                                                                                        settings. Dev Med Child Neurol 59:1158-1163,
Aeschlimann FA, Angst F, Hofer KD, Can-
                                                    Alisic E, Tyler MP, Giummarra MJ, Kassam-           2017.
nizzaro Schneider E, Schroeder-Kohler
                                                    Adams R, Gouweloos J, Landolt MA, Kassam-
S, Lauener R, van der Kleij D, Rispens T,
PUBLIKATIONSLISTE 2017

Andereggen L, Biétry D, Kottke R, Andres          Baumann P, Baer G, Bonhoeffer J, Fuchs               Grendelmeier P. Clinical phenotypes and
RH. Intracranial Foreign Body in a Patient with   A, Gotta V, Heininger U, Ritz N, Szinnai G,          endophenotypes of atopic dermatitis: Where
paranoid Schizophrenia. J Craniofac Surg          Bonhoeffer J. Procalcitonin for Diagnostics and      are we, and where should we go? J Allergy Clin
28:e685-e687, 2017.                               Treatment Decisions in Pediatric Lower Respira-      Immunol 139:S58-S64, 2017.
                                                  tory Tract Infections. Front Pediatr 5:183, 2017.
Anikster Y, Haack TB, Vilboux T, Pode-Sh-                                                              Bieli C, Summermatter S, Boutellier U, Moe-
akked B, Thöny B, Shen N, Guarani V, Meiss-       Beham K, Dave H, Kelly J, Frey B, Hug                ller A. Respiratory muscle training improves
ner T, Mayatepek E, Trefz FK, Marek-Yagel         MI, Brotschi B. Transthoracic intracardiac           respiratory muscle endurance but not exercise
D, Martinez A, Huttlin EL, Paulo JA, Berutti      catheters in pediatric cardiac patients: A single-   tolerance in children with cystic fibrosis. Pediatr
R, Benoist JF, Imbard A, Dorboz I, Heimer         center experience. Paediatr Anaesth 27:918-          Pulmonol 52:331-336, 2017.
G, Landau Y, Ziv-Strasser L, Malicdan MCV,        926, 2017.
                                                                                                        Bollmann S, Ghisleni C, Poil SS, Martin E,
Gemperle-Britschgi C, Cremer K, Engels
                                                  Ben-Zeev B, Gahl WA, Harper JW, Blau N,               Ball J, Eich-Höchli D, Klaver P, O’Gorman
H, Meili D, Keller I, Bruggmann R, Strom
                                                  Hoffmann GF, Prokisch H, Opladen T, Schiff            RL, Michels L, Brandeis D. Age-dependent and
TM, Meitinger T, Mullikin JC, Schwartz G,
                                                  M. Biallelic Mutations in DNAJC12 Cause Hy-          -independent changes in attention-deficit/hyper-
Arnold R, Neu M, Hirtler D, Gimpel C, Markl
                                                  perphenylalaninemia, Dystonia, and Intellectual       activity disorder (ADHD) during spatial working
M, Geiger J. Magnetic resonance imaging 4-D
                                                  Disability. Am J Hum Genet 100:257-266, 2017.         memory performance. World J Biol Psychiatry
flow-based analysis of aortic hemodynamics in
                                                                                                        18:279-290, 2017.
Turner syndrome. Pediatr Radiol 47:382-390,       Belle F, Wengenroth L, Weiss A, Sommer G,
2017.                                             Beck Popovic M, Ansari M, Bochud M, Kuehni           Bölsterli Heinzle BK, Bast T, Critelli H, Huber
                                                  C (incl. Bergsträsser E, Grotzer M; Swiss            R, Schmitt B. Erratum: Age-Dependency
Aurich-Schuler T, Grob F, van Hedel HJA,
                                                  Paediatric Oncology Group (SPOG). Low                of Location of Epileptic Foci in «Continuous
Labruyère R. Can Lokomat therapy with chil-
                                                  adherence to dietary recommendations in adult        Spike-and-Waves during Sleep»: A Parallel to
dren and adolescents be improved? An adaptive
                                                  childhood cancer survivors. Clin Nutr 36:1266-       the Posterior-Anterior Trajectory of Slow Wave
clinical pilot trial comparing Guidance force,
                                                  1274, 2017.                                          Activity. Neuropediatrics 48:36-41, 2017.
Path control, and FreeD. J Neuroengl Rehabil
14:76, 2017.                                      Bender F, Brandelik K, Jeske K, Lipka M,             Bölsterli BK, Gardella E, Pavlidis E, Wehrle
                                                  Löffler C, Mannhaupt G, Naumann CL, Nolte            FM, Tassinari CA, Huber R, Rubboli G. Remis-
Balzer J, van der Linden ML, Mercer TH, van
                                                  M, Ricken G, Rosin H, Scheerer-Neumann               sion of encephalopathy with status epilepticus
Hedel HJA. Selective voluntary motor control
                                                  G, von Aster M, von Orloff M. Die integrative        (ESES) during sleep renormalizes regulation
measures of the lower extremity in children
                                                  Lerntherapie. Lernen und Lernstörungen               of slow wave sleep. Epilepsiea 58:1892-1901,
with upper motor neuron lesions: a systematic
                                                  6:65-73, 2017.                                       2017.
review. Dev Med Child Neurol 59:699-705, 2017.
                                                  Bergroth E, Roponen M, Karvonen AM,                  Boltshauser E, Bauder F, Giarrana M, Hack-
Baranyai T, Giricz Z, Varga ZV, Koncsos G,
                                                  Keski-Nisula L, Remes S, Riedler J, Roduit           enberg A, Lebon S, Roulet-Perez E, Schmid
Lukovic D, Makkos A, Sárközy M, Pávó N,
                                                  C, Dalphin JC, Kaulek V, Loss GJ, Lauener            R, Schmitt-Mechelke T, Poretti A. Prenatal
Jakab A, Czimbalmos C, Vágó H, Ruzsa Z,
                                                  R, Hirvonen MR, Genuneit J, Schmaußer-               Brainstem Disruptions: Small Lesions-Big
Tóth L, Garamvölgyi R, Merkely B, Schulz R,
                                                  Hechfellner E, Renz H, Pfefferle PI, Krauss-         Problems. Neuropediatrics 48:350-355, 2017.
Gyöngyösi M, Ferdinandy P. In vivo MRI and
                                                  Etschmann S, Schaub B, von Mutius E,
ex vivo histological assessment of the cardio-                                                         Boltshauser E, Huisman TAGM. In Memoriam
                                                  Pekkanen J; PASTURE Study Group. Enhanced
protection induced by ischemic preconditioning,                                                        Andrea Poretti, MD (12.04.1977-22.03.2017).
                                                  T helper 1 and 2 cytokine responses at birth as-
postconditioning and remote conditioning in a                                                          Neuropediatrics 48:325-326, 2017.
                                                  sociate with lower risk of middle ear infections
closed-chest porcine model of reperfused acute
                                                  in infancy. Pediatr Allergy Immunol 28:53-59,        Boltshauser E. In Memoriam Andrea Poretti.
myocardial infarction: importance of microvas-
                                                  2017.                                                Cerebellum 16:986-987, 2017.
culature. J Transl Med 15:67, 2017.
                                                  Bergsträsser E, Cignacco E, Luck P. Health           Bourquin JP. A precision medicine approach to
Bartenhagen C, Fischer U, Korn K, Pfister SM,
                                                  care Professionals’ Experiences and Needs            haematological malignancies. Lancet Haematol
Gombert M, Chen C, Okpanyi V, Hauer J, Ri-
                                                  When Delivering End-of-Life Care to Chil-            4:e567-e568, 2017.
naldi A, Bourquin JP, Eckert C, Hu J, Ensser
                                                  dren: A Qualitative Study. Palliat Care 10,
A, Dugas M, Borkhardt A. Infection as a cause                                                          Boy N, Mühlhausen C, Maier EM, Heringer J,
                                                  1178224217724770, 2017.
of childhood leukemia: virus detection employ-                                                         Assmann B, Burgard P, Dixon M, Fleissner
ing whole genome sequencing. Haematologica        Bersuch E, Gräf F, Renner ED, Jung A, Traidl-        S, Greenberg CR, Harting I, Hoffmann GF,
102:e179-e183, 2017.                              Hoffmann C, Lauener R, Roduit C. Lung                Karall D, Koeller DM, Krawinkel MB, Okun
                                                  function improvement and airways inflamma-           JG, Opladen T, Posset R, Sahm K, Zschocke
Barth PG, Aronica E, Fox S, Fluiter K, Weter-
                                                  tion reduction in asthmatic children after a         J, Kölker S (incl. Ballhausen D, Fingerhut R).
man MAJ, Poretti A, Miller DC, Boltshauser
                                                  rehabilitation program at moderate altitude.         Proposed recommendations for diagnosing and
E, Harding B, Santi M, Baas F. Deregulated
                                                  Pediatr Allergy Immunol 28:768-775, 2017.            managing individuals with glutaric aciduria type
expression of EZH2 in congenital brainstem
                                                                                                       I: second revision. J Inherit Metab Dis 40:75-
disconnection. Neuropathol Appl Neurobiol         Berthold O, Clemens V, Witt A, von Moers
                                                                                                       101, 2017.
43:358-365, 2017.                                 A, von Aster M, Kölch M, Plener P, Fegert J.
                                                  Medizinische Kinderschutz-Hotline: Bera-             Bracher I, Padrutt M, Bonassin F, Santos
Bassila C, Ghemrawi R, Flayac J, Froese
                                                  tung für medizinisches Personal, bundesweit,         Lopes B, Gruner C, Stämpfli S, Oxenius A,
DS, Baumgartner MR, Guéant JL, Coelho D.
                                                  kostenlos, rund um die Uhr. Kinder und Ju-           De Pasquale G, Seeliger T, Lüscher TF, At-
Methionine synthase and methionine synthase
                                                  gendmedizin 17:367-372, 2017.                        tenhofer Jost C, Greutmann M. Burden and
reductase interact with MMACHC and with
                                                                                                       impact of congenital syndromes and comorbidi-
MMADHC. Biochim Biophya Acta 1863:103-            Bieber T, D’Erme AM, Akdis CA, Traidl-
                                                                                                       ties among adults with congenital heart disease.
112, 2017.                                        Hoffmann C, Lauener R, Schäppi G, Schmid-
                                                                                                       Int J Cardiol 240:159-164, 2017.

2
PUBLIKATIONSLISTE 2017

Brady AF, Demirdas S, Fournel-Gigleux S,            worth S, Spinella PC(incl. Doell C); PlasmaTV        Datta AN, Furrer MA, Bernhardt I, Hüppi PS,
Ghali N, Giunta C, Kapferer-Seebacher I,            Investigators. Outcomes Related to the Use of        Borradori-Tolsa C, Bucher HU, Latal B, Grunt
Kosho T, Mendoza-Lomndono R, Pope MF,               Frozen Plasma or Pooled Solvent/Detergent-           S, Natalucci G; GM Group. Fidgety movements
Rohrbach M, Van Damme T, Vandersteen                Treated Plasma in Critically Ill Children. Pediatr   in infants born very preterm: predictive value for
A, van Mourik C, Voermans N, Zschocke J,            Crit Care Med 18:e215-e223, 2017.                    cerebral palsy in a clinical multicentre setting.
Malfait F. The Ehlers-Danlos syndromes, rare                                                             Dev Med Child Neurol 59:618-624, 2017.
                                                    Carter MJ, Mitchell RM, Meyer Sauteur PM,
types. Am J Med Genet . Part C: Seminars in
                                                    Kelly DF, Trück J. The Antibody-Secreting            De Boeck K, Haarman E, Hull J, Lands LC,
Medical Genetics 175:70-115, 2017.
                                                    Cell Response to Infection: Kinetics and Clini-      Moeller A, Munck A, Riethmüller J, Tiddens
Brand J, Michels L, Bakker R, Hepp-Reymond          cal Applications. Front Immunol 8:630, 2017.         H, Volpi S, Leadbetter J, Charlton B, Malfroot
MC, Kiper D, Morari M, Eng K. Neural corre-         Infektiologie                                        A; DPM-CF-204 Study Group. Inhaled dry
lates of visuomotor adjustments during scaling                                                           powder mannitol in children with cystic fibrosis:
                                                    Caslavska J, Lanz C, Burda P, Tobler M,
of human finger movements. Eur J Neurosci                                                                A randomised efficacy and safety trial. J Cyst
                                                    Thormann W. Analysis of genetic variants of
46: 1717-1729, 2017.                                                                                     Fibros 16:380-387, 2017.
                                                    transferrin in human serum after desialylation
Brand J, Piccirelli M, Hepp-Reymond MC,             by capillary zone electrophoresisand capillary       de Groot RCA, Meyer Sauteur PM, Unger
Morari M, Michels L, Eng K. Correction: Virtual     isoelectric focusing. J Separation Sci 40:2488-      WWJ, van Rossum AMC. Things that could be
Hand Feedback Reduces Reaction Time in an           2497, 2017.                                          Mycoplasma pneumoniae. J Infect 1:S95-S100,
Interactive Finger Reaching Task. PLoS One                                                               2017.
                                                    Ceppi F, Beck-Popovic M, Bourquin JP,
12:e0176655, 2017.
                                                    Renella R. Opportunities and challenges in the       De Pasquale G, Bonassin Tempesta F, San-
Breuninger H, Lipka M, von Aster M. Lern-           immunological therapy of pediatric malignancy:       tons Lopes B, Babic D, Oxenius A, Seeliger
therapie: Was ist das? Lernen und Lernstörun-       a concise snapshot. Eur J Pediatr 176:1163-          T, Gruner C, Tanner FC, Biaggi P, Attenhofer
gen 6:49-50, 2017.                                  1172, 2017.                                          Jost C, Greutmann M. High prevalence of baffle
                                                                                                         leaks in adults after atrial switch operations for
Brotschi B, Gunny R, Rethmann C, Held U,            Chauveau A, Dalphin ML, Mauny F, Kaulek V,
                                                                                                         transposition of the great arteries. Eur J Heart
Latal B, Hagmann C. Relationship between            Schmausser-Hechfellner E, Renz H, Riedler J,
                                                                                                         J. Cardiovascular Imaging 18: 18:531-535,
temperature variability and brain injury on         Pekkanen J, Karvonen AM, Lauener R, Roduit
                                                                                                         2017.
magnetic resonance imaging in cooled newborn        C, Vuitton DA, von Mutius E, Dalphin JC;
infants after perinatal asphyxia. J Perinatol       PASTURE Study Group. Skin prick tests and            Diez-Fernandez C, Häberle J. Targeting
37:1032-1037, 2017.                                 specific IgE in 10-year-old children: Agreement      CPS1 in the treatment of Carbamoyl phosphate
                                                    and association with allergic diseases. Allergy      synthetase 1 (CPS1) deficiency, a urea cycle
Burda P, Suormala T, Heuberger D, Schäfer
                                                    72:1365-1373, 2017.                                  disorder. Expert Opin Ther Targets 21:391-399,
A, Fowler B, Froese DS, Baumgartner
                                                                                                         2017.
MR. Functional characterization of missense         Christmann M, Hoop R, Dave H, Quandt D,
mutations in severe methylenetetrahydrofolate       Knirsch W, Kretschmar O. Closure of coronary         Diez-Fernandez C, Rüfenacht V, Häberle
reductase deficiency using a human expression       artery fistula in childhood: treatment techniques    J. Mutations in the Human Argininosuccinate
system. J Inherit Metab Dis 40:297-306, 2017.       and long-term follow-up. Clin Res Cardiol            Synthetase (ASS1) Gene, Impact on Patients,
                                                    106:211-218, 2017.                                   Common Changes, and Structural Considera-
Burgard P, Ullrich K, Ballhausen D, Henner-
                                                                                                         tions. Hum Mutat 38:471-484, 2017.
mann JB, Hollak CEM, Langeveld M, Karall            Dafflon C, Craig VJ, Méreau H, Gräsel J,
D, Konstantopoulou V, Maier EM, Lang F,             Schacher Engstler B, Hoffman G, Nigsch F,            Djaoud Z, Guethlein LA, Horowitz A, Azzi T,
Lachmann R, Murphy E, Garbade S, Hoffmann           Gaulis S, Barys L, Ito M, Aguadé-Gorgorió J,         Nemat-Gorgani N, Olive D, Nadal D, Norman
GF, Kölker S, Lindner M, Zschocke J. Issues         Bornhauser B, Bourquin JP, Proske A, Stork-          PJ, Münz C, Parham P. Two alternate strate-
with European guidelines for phenylketonuria.       Fux C, Murakami M, Sellers WR, Hofmann               gies for innate immunity to Epstein-Barr virus:
Lancet Diabetes Endocrinol 5:681-683, 2017.         F, Schwaller J, Tiedt R. Complementary               One using NK cells and the other NK cells and
                                                    activities of DOT1L and Menin inhibitors in MLL-     γδ T cells. J Exp Med 214:1827-1841, 2017.
Bürgler S, Nadal D. Pediatric precursor B
                                                    rearranged leukemia. Leukemia 31:1269-1277,
acute lymphoblastic leukemia: are T helper                                                               Dougoud S, Valsangiacomo Buechel E,
                                                    2017.
cells the missing link in the infectious etiology                                                        Kellenberger CJ, Mayer KA. A large right ven-
theory? Mol Cell Pediatr 4:6, 2017.                 Dallery F, Makki MI, Capel C, Gondry-Jouet           tricular mass in a 42-year-old female marathon
                                                    C, Baledent O. A phase-contrast MRI study to         runner. Eur Heart J 38:216, 2017.
Burkhardt BE, Velasco Forte MN, Durairaj
                                                    investigate the interaction of CSF dynamic with
S, Rafiq I, Valverde I, Tandon A, Simpson J,                                                             Dror E, Dalmas E, Meier DT, Wueest S,
                                                    the intracranial CSF distribution. JSM Neuro-
Hussain T. Timely Pulmonary Valve Replace-                                                               Thévenet J, Thienel C, Timper K, Nordmann
                                                    surgery and Spine 5:1079, 2017.
ment May Allow Preservation of Left Ventricular                                                          TM, Traub S, Schulze F, Item F, Vallois D,
Circumferential Strain in Patients with Tetralogy   Dalmas E, Lehmann FM, Dror E, Wueest S,              Pattou F, Kerr-Conte J, Lavallard V, Berney
of Fallot. Front Pediatr 5:39, 2017.                Thienel C, Borsigova M, Stawiski M, Traun-           T, Thorens B, Konrad D, Böni-Schnetzler M,
                                                    ecker E, Lucchini FC, Dapito DH, Kallert SM,         Donath MY. Postprandial macrophage-derived
Burkart TL, Kraus A, Koller B, Natalucci G,
                                                    Guigas B, Pattou F, Kerr-Conte J, Maechler P,        IL-1β stimulates insulin, and both synergistically
Latal B, Fauchère JC, Bucher HU, Rüegger
                                                    Girard JP, Konrad D, Wolfrum C, Böni-Sch-            promote glucose disposal and inflammation.
CM; Swiss Epo Neuroprotection Trial Group.
                                                    netzler M, Finke D, Donath MY. Interleukin-          Nat Immunol 18:283-292, 2017.
Placebo by Proxy in Neonatal Randomized
                                                    33-Activated Islet-Resident Innate Lymphoid
Controlled Trials: Does It Matter? Children 4:6,                                                         Ehrlinspiel DM, Gass M, Balmer C. Transsep-
                                                    Cells Promote Insulin Secretion through
2017.                                                                                                    tal puncture for radiofrequency catheter abla-
                                                    Myeloid Cell Retinoic Acid Production. Immunity
                                                                                                         tions of left-sided arrhythmias in a paediatric
Camazine MN, Karam O, Colvin R, Leteurtre           47:928-942, 2017.
                                                                                                         population. Cardiol Young 27:267-272, 2017.
S, Demaret P, Tucci M, Muszynski JA, Stan-

                                                                                                                                                           3
PUBLIKATIONSLISTE 2017

Entenmann A, Michel M, Herberg U, Haas              Fischer U, von Aster M. Rechenschwäche              ful inhibitor of lysosomal β-galactosidase and a
N, Kumpf M, Gass M, Egender F, Gebauer R.           erkennen und therapieren. Pädagogik 17:54-          remarkable chaperone for mutations associated
Management of postoperative junctional ectopic      55, 2017.                                           with GM1-gangliosidosis and Morquio disease
tachycardia in pediatric patients: a survey of 30                                                       type B. Eur J Med Chem 126:160-170, 2017.
                                                    Fischli S, von Wyl V, Trummler M, Konrad
centers in Germany, Austria, and Switzerland.
                                                    D, Wueest S, Ruefer A, Heering K, Streuli R,        Fuchs O, Barker M, Zacharasiewicz A,
Eur J Pediatr 176:1217-1226, 2017.
                                                    Steuer C, Bernasconi L, Recher M, Henzen C.         Dahlheim M, Moeller A, Grappa M, Lex C.
Eskola K, Bergstraesser E, Zimmermann               Iron metabolism in patients with Graves’ hyper-     Lungenfunktionsmessungen im Kleinkind- und
K, Cignacco E. Maintaining family life balance      thyroidism. Clin Endocrinol 87:609-616, 2017.       Vorschulalter. Konsensuspapier der Arbeits-
while facing a child’s imminent death-A mixed                                                           gruppe Lungenfunktion der Gesellschaft für
                                                    Fleger M, Willomitzer J, Meinsma R, Alders
methods study. J Adv Nurs 73:2462-2472, 2017.                                                           Pädiatrische Pneumologie (GPP). Monatsschr
                                                    M, Meijer J, Hennekam RCM, Huemer M, van
                                                                                                        Kinderheilkd 165:55, 2017.
Fattinger S, Kurth S, Ringli M, Jenni OG, Hu-       Kuilenburg ABP. Dihydropyrimidine Dehydroge-
ber R. Theta waves in children’s waking electro-    nase Deficiency: Metabolic Disease or Biochem-      Gaisl T, Giunta C, Bratton DJ, Sutherland
encephalogram resemble local aspects of sleep       ical Phenotype? JiMD Rep 37:49-54, 2017.            K, Schlatzer C, Sievi N, Franzen D, Cistulli
during wakefulness. Sci Rep 7:11187, 2017.                                                              PA, Rohrbach M, Kohler M. Obstructive sleep
                                                    Frank JA, Ranft A, Paulussen M, Juergens H,
                                                                                                        apnoea and quality of life in Ehlers-Danlos
Fattinger S, de Beukelaar TT, Ruddy KL, Volk        Kruseova J, Bauer S, Niggli F, Reichardt P,
                                                                                                        syndrome: a parallel cohort study. Thorax
C, Heyse NC, Herbst JA, Hahnloser RHR,              Dirksen U. Results for patients with sarcoma
                                                                                                        72:729-735, 2017.
Wenderoth N, Huber R. Deep sleep maintains          not otherwise specified and other diagnoses
learning efficiency of the human brain. Nat         than Ewing sarcoma treated according to the         Gallego-Villar L, Hannibal L, Häberle J,
Commun 8:15405, 2017.                               Euro-EWING 99 trial. Pediatr Blood Cancer 64:       Thöny B, Ben-Omran T, Nasrallah GK, Dewik
                                                    2017.                                               AN, Kruger WD, Blom HJ. Cysteamine revis-
Fedele T, Ramantani G, Burnos S, Hilfiker P,
                                                                                                        ited: repair of arginine to cysteine mutations. J
Curio G, Grunwald T, Krayenbühl N, Sarn-            Frid P, Nordal E, Bovis F, Giancane G,
                                                                                                        Inherit Metab Dis 40:555-567, 2017.
thein J. Prediction of seizure outcome improved     Larheim TA, Rygg M, Pires Marafon D, De
by fast ripples detected in low-noise intraopera-   Angelis D, Palmisani E, Murray KJ, Oliveira         Gaur P, Werner B, Feng X, Fielden SW, Meyer
tive corticogram. Clin Neurophysiol 128:1220-       S, Simonini G, Corona F, Davidson J, Foster         CH, Grissom WA. Spatially-segmented under-
1226, 2017.                                         H, Steenks MH, Flato B, Zulian F, Baildam           sampled MRI temperature reconstruction for
                                                    E, Saurenmann RK, Lahdenne P, Ravelli A,            transcranial MR-guided focused ultrasound. J
Feiterna-Sperling C, Brinkmann F, Adamczick
                                                    Martini A, Pistorio A, Ruperto N; Paediatric        Ther Ultrasound 5:13, 2017.
C, Ahrens F, Barker M, Berger C, Berthold
                                                    Rheumatology International Trials Organisa-
LD, Bogyi M, von Both U, Frischer T, Haas                                                               Gerster K, Katschnig C, Wyss S, Kolly A,
                                                    tion. Temporomandibular Joint Involvement in
W, Hartmann P, Hillemann D, Hirsch FW,                                                                  Sproll P, Biason-Lauber A, Konrad D. novel
                                                    Association With Quality of Life, Disability, and
Kranzer K, Kunitz F, Maritz E, Pizzulli A, Ritz                                                         DAX-1 (NR0B1) mutation in a boy with X-linked
                                                    High Disease Activity in Juvenile Idiopathic
N, Schlags R, Spindler T, Thee S, Weizsäcker                                                            adrenal hypoplasia congenita. J Pediatr Endo-
                                                    Arthritis. Arthritis Care Res (Hoboken) 69:677-
K. S2k-Leitlinie zur Diagnostik, Prävention                                                             crinol Metab 30:1321-1325, 2017.
                                                    686, 2017.
und Therapie der Tuberkulose im Kindes- und
                                                                                                        Gerster K, Biason-Lauber A, Schoenle EJ.
Jugendalter. Pneumologie 71:629-680, 2017.          Friedrich C, Shalaby T, Oehler C, Pruschy M,
                                                                                                        Clinical follow-up of the first SF-1 insufficient
                                                    Seifert B, Picard D, Remke M, Warmuth-Metz
Ferstl R, Frei R, Barcik W, Schiavi E, Wanke                                                            female patient. Ann Endocrinol 78:156-161,
                                                    M, Kortmann RD, Rutkowski S, Grotzer MA,
K, Ziegler M, Rodriguez-Perez N, Groeger D,                                                             2017
                                                    von Bueren AO. Tropomyosin receptor kinase
Konieczna P, Zeiter S, Nehrbass D, Lauener
                                                    C (TrkC) expression in medulloblastoma: rela-       Gerth-Kahlert C, Tiwari A, Hauri-Hohl MM,
R, Akdis CA, O’Mahony L. Histamine receptor
                                                    tion to the molecular subgroups and impact on       Hanson JVM, Bahr A, Palmowski-Wolfe A,
2 modifies iNKT cell activity within the inflamed
                                                    treatment response. Childs Nerv Syst 33:1463-       Güngör T, Berger W. Unusual retinopathy in a
lung. Allergy 72:1925-1935, 2017.
                                                    1471, 2017.                                         child with severe combined immune deficiency.
Fettelschoss V, Burda P, Sagné C, Coelho                                                                Ophthalmic Genet 39:92-94, 2017.
                                                    Frismantas V, Dobay MP, Rinaldi A, Tchinda
D, De Laet C, Lutz S, Suormala T, Fowler
                                                    J, Dunn SH, Kunz J, Richter-Pechanska P,            Giacchetti L, De Gaudenzi M, Leoncini A, Fer-
B, Pietrancosta N, Gasnier B, Bornhauser
                                                    Marovca B, Pail O, Jenni S, Diaz-Flores E,          rucci E, Pezzoli V, Albisetti M. Neonatal renal
B, Froese DS, Baumgartner MR. Clinical or
                                                    Chang BH, Brown TJ, Collins RH, Uhrig S,            and inferior vena cava thrombosis associated
ATPase domain mutations in ABCD4 disrupt the
                                                    Balasubramanian GP, Bandapalli OR, Higi             with fetal thrombotic vasculopathy: a case
interaction between the vitamin B12-trafficking
                                                    S, Eugster S, Voegeli P, Delorenzi M, Cario G,      report. J Med Case Rep 11:248, 2017.
proteins ABCD4 and LMBD1. J Biol Chem
                                                    Loh ML, Schrappe M, Stanulla M, Kulozik AE,
292:11980-11991, 2017.                                                                                  Gimpel C, Jung BA, Jung S, Brado J,
                                                    Muckenthaler MU, Saha V, Irving JA, Meisel
                                                                                                        Schwendinger D, Burkhardt B, Pohl M,
Fidler Mis N, Braegger C, Bronsky J, Cam-           R, Radimerski T, Von Stackelberg A, Eckert C,
                                                                                                        Odening KE, Geiger J, Arnold R. Magnetic
poy C, Domellöf M, Embleton ND, Hojsak I,           Tyner JW, Horvath P, Bornhauser BC, Bour-
                                                                                                        resonance tissue phase mapping demonstrates
Hulst J, Indrio F, Lapillonne A, Mihatsch W,        quin JP. Ex vivo drug response profiling detects
                                                                                                        altered left ventricular diastolic function in
Molgaard C, Vora R, Fewtrell M; ESPGHAN             recurrent sensitivity patterns in drug-resistant
                                                                                                        children with chronic kidney disease. Pediatr
Committee on Nutrition. Sugar in Infants,           acute lymphoblastic leukemia. Blood 129:e26-
                                                                                                        Radiol 47:169-177, 2017.
Children and Adolescents: A Position Paper of       e37, 2017.
the European Society for Paediatric Gastroen-                                                           Gotta V, Baumann P, Ritz N, Fuchs A, Baer
                                                    Front S, Biela-Banaś A, Burda P, Ballhausen
terology, Hepatology and Nutrition Committee                                                            G, Bonhoeffer JM, Heininger U, Szinnai G,
                                                    D, Higaki K, Caciotti A, Morrone A, Charollais-
on Nutrition. J Pediatr Gastroenterol Nutr                                                              Bonhoeffer J; ProPAED study group. Driv-
                                                    Thoenig J, Gallienne E, Demotz S, Martin OR.
65:681-696, 2017.                                                                                       ers of antibiotic prescribing in children and
                                                    (5aR)-5a-C-Pentyl-4-epi-isofagomine: A power-

4
PUBLIKATIONSLISTE 2017

adolescents with febrile lower respiratory tract     beneficial effect of targeted memory reactiva-       Rostásy K. Epileptic phenotypes, electroclini-
infections. PLos One 12:e0185197, 2017.              tion during sleep. Sci Rep 7:39763, 2017.            cal features and clinical characteristics in 17
                                                                                                          children with anti-NMDAR encephalitis. Eur J
Gouweloos-Trines J, Tyler MP, Giummarra              Grünert SC, Schlatter SM, Schmitt RN,
                                                                                                          Paediatr Neurol 21:457-464, 2017.
MJ, Kassam-Adams N, Landolt MA, Kleber               Gemperle-Britschgi C, Mrázová L, Balcı MC,
RJ, Alisic E. Perceived support at work after        Bischof F, Çoker M, Das AM, Demirkol M, de           Hackenberg A, Boltshauser E, Gerth-Kahlert
critical incidents and its relation to psychologi-   Vries M, Gökçay G, Häberle J, Uçar SK, Lotz-         C, Stahr N, Azzarello-Burri S, Plecko B.
cal distress: a survey among prehospital provid-     Havla AS, Lücke T, Roland D, Rutsch F, Santer        Horizontal Gaze Palsy in Two Brothers with
ers. Emerg Med J 34:816-822, 2017.                   R, Schlune A, Staufner C, Schwab KO, Mitch-          Compound Heterozygous ROBO3 Gene Muta-
                                                     ell GA, Sass JO. 3-Hydroxy-3-methylglutaryl-         tions. Neuropediatrics 48:57-58, 2017.
Gradwohl G, Olini N, Huber R. Sleep/wake
                                                     coenzyme A lyase deficiency: Clinical presenta-
movement velocities, trajectories and micro-                                                              Haim Y, Blüher M, Konrad D, Goldstein N,
                                                     tion and outcome in a series of 37 patients. Mol
arousals during maturation in rats. BMC                                                                   Klöting N, Harman-Boehm I, Kirshtein B,
                                                     Genet Metab 121:206-215, 2017.
Neurosci 18:24, 2017.                                                                                     Ginsberg D, Tarnovscki T, Gepner Y, Shai I,
                                                     Grünert SC, Schmitt RN, Schlatter SM, Gem-           Rudich A. ASK1 (MAP3K5) is transcriptionally
Grahammer F, Ramakrishnan SK, Rinschen
                                                     perle-Britschgi C, Balcı MC, Berg V, Çoker M,        upregulated by E2F1 in adipose tissue in obesity,
MM, Larionov AA, Syed M, Khatib H, Roerden
                                                     Das AM, Demirkol M, Derks TGJ, Gökçay G,             molecularly defining a human dys-metabolic
M, Sass JO, Helmstaedter M, Osenberg D,
                                                     Uçar SK, Konstantopoulou V, Christoph Kore-          obese phenotype. Mol Metab 6:725-736, 2017.
Kühne L, Kretz O, Wanner N, Jouret F, Benz-
                                                     nke G, Lotz-Havla AS, Schlune A, Staufner C,
ing T, Artunc F, Huber TB, Theilig F. mTOR                                                                Halton JM, Picard AC, Harper R, Huang F,
                                                     Tran C, Visser G, Schwab KO, Fukao T, Sass
Regulates Endocytosis and Nutrient Transport                                                              Brueckmann M, Gropper S, Maas H, Tartako-
                                                     JO. Clinical presentation and outcome in a
in Proximal Tubular Cells. J Am Soc Nephrol                                                               vsky I, Nurmeev I, Mitchell LG, Brandão LR,
                                                     series of 32 patients with 2-methylacetoacetyl-
28:230-241, 2017.                                                                                         Chalmers E, Albisetti M. Pharmacokinetics,
                                                     coenzyme A thiolase (MAT) deficiency. Mol
                                                                                                          Pharmacodynamics, Safety and Tolerability of
Graser J. Spezifische Roboteransätze für             Genet Metab 122:67-75, 2017.
                                                                                                          Dabigatran Etexilate Oral Liquid Formulation
Kinder. Neuroreha 9:172-178, 2017.
                                                     Gryder BE, Yohe ME, Chou HC, Zhang X,                in Infants with Venous Thromboembolism.
Grass B, Simma L, Reinehr M, Zimmermann              Marques J, Wachtel M, Schaefer B, Sen N,             Thromb Haemost 117:2168-2175, 2017.
U, Gysin C, Henze G, Cannizzaro V. Two case          Song Y, Gualtieri A, Pomella S, Rota R, Cleve-
                                                                                                          Halton JML, Albisetti M, Biss B, Bomgaars L,
reports of unexpected tracheal agenesis in the       land A, Wen X, Sindiri S, Wei JS, Barr FG, Das
                                                                                                          Brueckmann M, Gropper S, Harper R, Huang
neonate: 3 C’s beyond algorithms for difficult       S, Andresson T, Guha R, Lal-Nag M, Ferrer M,
                                                                                                          F, Luciani M, Maas H, Tartakovsky I, Mitchell
airway management. BMC Pediatr 17:49, 2017.          Shern JF, Zhao K, Thomas CJ, Khan J. PAX3-
                                                                                                          LG. Phase IIa study of dabigatran etexilate in
                                                     FOXO1 Establishes Myogenic Super Enhancers
Greuter T, Bertoldo F, Rechner R, Straumann                                                               children with venous thrombosis: pharma-
                                                     and Confers BET Bromodomain Vulnerability.
A, Biedermann L, Zeitz J, Misselwitz B, Scharl                                                            cokinetics, safety, and tolerability. J Thromb
                                                     Cancer Discov 7:884-899, 2017.
M, Rogler G, Safroneeva E, Ali RAR, Braeg-                                                                Haemost 15:2147-2157, 2017.
ger C, Heyland K, Mueller P, Nydegger A,             Gyöngyösi M, Pavo N, Lukovic D, Zlabinger
                                                                                                          Hamilton EM, Bertini E, Kalaydjieva L, Morar
Petit LM, Schibli S, Furlano RI, Spalinger J,        K, Spannbauer A, Traxler D, Goliasch G,
                                                                                                          B, Dojčáková D, Liu J, Vanderver A, Curiel J,
Schäppi M, Zamora S, Froehlich F, Herzog D,          Mandic L, Bergler-Klein J, Gugerell A, Jakab
                                                                                                          Persoon CM, Diodato D, Pinelli L, van der Meij
Schoepfer AM, Vavricka SR; Swiss IBD Cohort          A, Szankai Z, Toth L, Garamvölgyi R, Mau-
                                                                                                          NL, Plecko B, Blaser S, Wolf NI, Waisfisz Q,
Study Group. Extraintestinal Manifestations of       rer G, Jaisser F, Zannad F, Thum T, Bátkai
                                                                                                          Abbink TEM, van der Knaap MS; Recessive H-
Pediatric Inflammatory Bowel Disease: Preva-         S, Winkler J. Porcine model of progressive
                                                                                                          ABC Research Group. UFM1 founder mutation
lence, Presentation and anti-TNF Treatment. J        cardiac hypertrophy and fibrosis with secondary
                                                                                                          in the Roma population causes recessive variant
Pediatr Gastroenterol Nutr 65:200-206, 2017.         postcapillary pulmonary hypertension. J Transl
                                                                                                          of H-ABC. Neurology 89:1821-1828, 2017.
                                                     Med 15:202, 2017.
Grey VL, Loh TP, Metz M, Lang T, Hersberger
                                                                                                          Harttrampf AC, Chen Q, Jüttner E, Geiger
M. Paediatric Laboratory Medicine - Some             Haag AC, Landolt MA. Young children’s acute
                                                                                                          J, Vansant G, Khan J, Kontny U. Case report:
reflections on the sub-specialty. Clin Biochem       stress after a burn Injury: disentangling the role
                                                                                                          value of gene expression profiling in the diagno-
50:648-650, 2017.                                    of Injury severity and parental acute stress. J
                                                                                                          sis of atypical neuroblastoma. BMC Res Notes
                                                     Pediatr Psychol 42:861-870, 2017.
Grisch-Chan HM, Schlegel A, Scherer T, Al-                                                                10:413, 2017.
legri G, Heidelberger R, Tsikrika P, Schmeer         Haas NA, Kock L, Bertram H, Boekenkamp R,
                                                                                                          Haslbeck FB, Bucher HU, Bassler D, Hag-
M, Schleef M, Harding CO, Häberle J, Thöny           De Wolf D, Ditkivskyy I, Freund MW, Gewil-
                                                                                                          mann C. Creative music therapy to promote
B. Low-Dose Gene Therapy for Murine PKU              lig M, Happel CM, Herberg U, Karthasyan E,
                                                                                                          brain structure, function, and neurobehavioral
Using Episomal Naked DNA Vectors Expressing          Kozlik-Feldmann R, Kretschmar O, Kuz-
                                                                                                          outcomes in preterm infants: a randomized
PAH from Its Endogenous Liver Promoter. Mol          menko Y, Milanesi O, Mueller G, Pongiglione
                                                                                                          controlled pilot trial protocol. Pilot Feasibility
Ther Nucleic Acids 7:339-349, 2017.                  G, Schubert S, Tarusinov G, Kampmann C. In-
                                                                                                          Stud 3:36, 2017.
                                                     terventional VSD-Closure with the Nit-Occlud®
Groch S, Preiss A, McMakin DL, Rasch
                                                     Lê VSD-Coil in 110 Patients: Early and Midterm       Hermenau K, Goessmann K, Rygaard NP,
B, Walitza S, Huber R, Wilhelm I. Targeted
                                                     Results of the EUREVECO-Registry. Pediatr            Landolt MA, Hecker T. Fostering child develop-
Reactivation during Sleep Differentially Affects
                                                     Cardiol 38:215-227, 2017.                            ment by improving care quality: a systematic
Negative Memories in Socially Anxious and
                                                                                                          review of the effectivenesss of structural inter-
Healthy Children and Adolescents. J Neurosci         Haberlandt E, Ensslen M, Gruber-Sedlmayr
                                                                                                          ventions and caregiver trinings in institutional
37:2425-2434, 2017.                                  U, Plecko B, Brunner-Krainz M, Schimmel M,
                                                                                                          care. Trauma, Violence & Abuse 18:544-561,
                                                     Schubert-Bast S, Neirich U, Philippi H, Kurle-
Groch S, Schreiner T, Rasch B, Huber R,                                                                   2017.
                                                     man G, Tardieu M, Wohlrab G, Borggraefe I,
Wilhelm I. Prior knowledge is essential for the

                                                                                                                                                               5
PUBLIKATIONSLISTE 2017

Herzig D, Eser P, Radtke T, Wenger A, Rust-         Inci D, Guggenheim R, Altintas DU, Wildhaber       Hippocampal Atrophy and Cortical Thinning in
erholz T, Wilhelm M, Achermann P, Arhab A,          JH, Moeller A. Reported Exercise-Related           Future Alzheimer’s Disease Patients. Front Ag-
Jenni OG, Kakebeeke TH, Leeger-Aschmann             Respiratory Symptoms and Exercise-Induced          ing Neurosci 9:38, 2017.
CS, Messerli-Bürgy N, Meyer AH, Munsch S,           Bronchoconstriction in Asthmatic Children. J
                                                                                                       Karam O, Demaret P, Duhamel A, Shefler A,
Puder JJ, Schmutz EA, Stülb K, Zysset AE,           Clin Med Res 9:410-415, 2017.
                                                                                                       Spinella PC, Tucci M, Leteurtre S, Stanworth
Kriemler S. Relation of Heart Rate and its Vari-
                                                    Jordi M, Marty J, Mordasini V, Lünemann A,         SJ (incl. Doell C); PlasmaTV investigators.
ability during Sleep with Age, Physical Activity,
                                                    McComb S, Bernasconi M, Nadal D. IRAK4             Factors influencing plasma transfusion prac-
and Body Composition in Young Children. Front
                                                    is essential for TLR9-induced suppression          tices in paediatric intensive care units around
Physiol 8:109, 2017.
                                                    of Epstein-Barr virus BZLF1 transcription in       the world. Vox Sang 112:140-149, 2017.
Herzog D, Fournier N, Buehr P, Rueger V,            Akata Burkitt’s lymphoma cells. PLoS One
                                                                                                       Karin I, Borggraefe I, Catarino CB, Kuhm C,
Koller R, Heyland K, Nydegger A, Braegger           12:e0186614, 2017.
                                                                                                       Hoertnagel K, Biskup S, Opladen T, Blau N,
CP; Swiss IBD Cohort Study Group. Preva-
                                                    Jost K, Egger B, Kieninger E, Singer F, Frey       Heinen F, Klopstock T. Folinic acid therapy in
lence of intestinal complications in inflamma-
                                                    U, Latzin P. Letter to the editor. Changes in      cerebral folate deficiency: marked improvement
tory bowel disease: a comparison between
                                                    minute ventilation after exposure to 4% sulfur     in an adult patient. J Neurol 264:578-582, 2017.
paediatric-onset and adult-onset patients. Eur
                                                    hexafluoride (SF6 ) in infants. Pediatr Pulmonol
J Gastroenterol Hepatol 29:926-931, 2017.                                                              Kaufmann L, von Aster M. Subtypen von Rech-
                                                    52:151-153, 2017.
                                                                                                       enschwächen: Ergebnisse einer Meta-Analyse
Hochuli M, Bollhalder S, Thierer C, Refardt J,
                                                    Item F, Wueest S, Lemos V, Stein S, Luc-           und Implikationen für Interventionsplanung.
Gerber P, Baumgartner MR. Effects of Inad-
                                                    chini FC, Denzler R, Fisser MC, Challa TD,         Lernen und Lernstörungen 6:44, 2017.
equate Amino Acid Mixture Intake on Nutrient
                                                    Pirinen E, Kim Y, Hemmi S, Gulbins E, Gross
Supply of Adult Patients with Phenylketonuria.                                                         Kaufmann L, von Aster M. Beeinträchtigungen
                                                    A, O’Reilly LA, Stoffel M, Auwerx J, Konrad D.
Ann Nutr Metab 71:129-135, 2017.                                                                       der sensorischen Informationsverarbeitung
                                                    Fas cell surface death receptor controls hepatic
                                                                                                       als Schlüsselsymtom der ADHS? Lernen und
Hofer KD, Saurenmann RK. Parameters af-             lipid metabolism by regulating mitochondrial
                                                                                                       Lernstörungen 6:160, 2017.
fecting length of stay in a pediatric emergency     function. Nat Commun 8:480, 2017.
department: a retrospective observational study.                                                       Kaufmann L, von Aster M. Genome editing:
                                                    Jud A, Kotur M, Berger C, Gysin C, Nadal D,
Eur J Pediatr 176:591-598, 2017.                                                                       Wollen wir das wirklich? Lernen und Lern-
                                                    Lünemann A. Activation of ATR-Chk1 pathway
                                                                                                       störungen 6:162, 2017.
Hose AJ, Depner M, Illi S, Lau S, Keil T,           facilitates EBV-mediated transformation of
Wahn U, Fuchs O, Pfefferle PI, Schmaußer-           primary tonsillar B-cells. Oncotarget 8:6130-      Kaufmann L, von Aster M. Mechanismen der
Hechfellner E, Genuneit J, Lauener R,               6141, 2017.                                        so genannten «nicht-genetischen» Vererbung
Karvonen AM, Roduit C, Dalphin JC, Riedler                                                             im Zusammenhang mit psychiatrischen Störun-
                                                    Jung A. Diagnosesicherung der Cystischen
J, Pekkanen J, von Mutius E, Ege MJ; MAS;                                                              gen. Lernen und Lernstörungen 6:161, 2017.
                                                    Fibrose. Atemwegs- und Lungenkrankheiten
PASTURE study groups. Latent class analysis
                                                    43:310-320, 2017.                                  Kaufmann L, von Aster M. Neurofeedback
reveals clinically relevant atopy phenotypes
                                                                                                       als komplementäre nicht-medikamentöse
in 2 birth cohorts. J Allergy Clin Immunol          Jung A. Zystische Fibrose heute. Schweiz Med
                                                                                                       Behandlungsmethode bei ADHS. Lernen und
139:1935-1945, 2017.                                Forum 17:514-522, 2017.
                                                                                                       Lernstörungen 6:159, 2017.
Hoysted C, Babl FE, Kassam-Adams N,                 Jung-Klawitter S, Ebersold J, Göhring G, Blau
                                                                                                       Keller JW, van Hedel HJA. Weight-supported
Landolt MA, Jobson L, Curtis S, Kharbanda           N, Opladen T. Generation of an iPSC line from
                                                                                                       training of the upper extremity in children with
AB, Lyttle MD, Parri N, Stanley R, Alisic E.        a patient with GTP cyclohydrolase 1 (GCH1)
                                                                                                       cerebral palsy: a motor learning study. J Neu-
Perspectives of hospital emergency department       deficiency: HDMC0061i-GCH1. Stem Cell Res
                                                                                                       roeng Rehabil 14:87, 2017.
staff on trauma-informed care for injured chil-     20:38-41, 2017.
dren: An Australian and New Zealand analysis. J                                                        Kemper EA, Boelen A, Bosch AM, van Veen-
                                                    Kakebeeke TH, Messerli-Bürgy N, Meyer AH,
Paediatr Child Health 53:862-869, 2017.                                                                Sijne M, van Rijswijk CN, Bouva MJ, Finger-
                                                    Zysset AE, Stülb K, Leeger-Aschmann CS,
                                                                                                       hut R, Schielen PC. Establishing New Cut-Off
Huemer M, Diodato D, Schwahn B, Schiff M,           Schmutz EA, Arhab A, Puder JJ, Kriemler S,
                                                                                                       Limits for Galactose 1-Phosphate-Uridyl-
Bandeira A, Benoist JF, Burlina A, Cerone           Munsch S, Jenni OG. Contralateral Associated
                                                                                                       transferase Deficiency for the Dutch Newborn
R, Couce ML, Garcia-Cazorla A, la Marca G,          Movements Correlate with Poorer Inhibitory
                                                                                                       Screening Programme. JIMD Rep 32:1-6, 2017.
Pasquini E, Vilarinho L, Weisfeld-Adams JD,         Control, Attention and Visual Perception in Pre-
Kožich V, Blom H, Baumgartner MR, Dionisi-          school Children. Percept Mot Skills 124:885-       Khan SA, Peracha H, Ballhausen D, Wies-
Vici C. Guidelines for diagnosis and manage-        899, 2017.                                         bauer A, Rohrbach M, Gautschi M, Mason RW,
ment of the cobalamin-related remethylation                                                            Giugliani R, Suzuki Y, Orii KE, Orii T, Tomatsu
                                                    Kakebeeke TH, Lanzi S, Zysset AE, Arhab
disorders cblC, cblD, cblE, cblF, cblG, cblJ and                                                       S. Epidemiology of mucopolysaccharidoses. Mol
                                                    A, Messerli-Bürgy N, Stuelb K, Leeger-
MTHFR deficiency. J Inherit Metab Dis 40:21-                                                           Genet Metab 121:227-240, 2017.
                                                    Aschmann CS, Schmutz EA, Meyer AH,
48, 2017.
                                                    Kriemler S, Munsch S, Jenni OG, Puder JJ.          Khatami S, Dehnabeh SR, Zeinali S, Thöny
Jaaks P, Bernasconi M. The proprotein               Association between Body Composition and           B, Alaei M, Salehpour S, Setoodeh A, Rohani
convertase furin in tumour progression. Int J       Motor Performance in Preschool Children. Obes      F, Hajivalizadeh F, Samavat A. Four Years of
Cancer 141:654-663, 2017.                           Facts 10:420-431, 2017.                            Diagnostic Challenges with Tetrahydrobiopterin
                                                                                                       Deficiencies in Iranian Patients. JIMD Rep
Jakab A, Tuura R, Kellenberger C, Scheer            Kälin AM, Park MT, Chakravarty MM, Lerch
                                                                                                       32:7-14, 2017.
I. In utero diffusion tensor imaging of the fetal   JP, Michels L, Schroeder C, Broicher SD,
brain: A reproducibility study. Neuroimage Clin     Kollias S, Nitsch RM, Gietl AF, Unschuld PG,       Kentgens AC, Anagnostopoulou P, Singer
15:601-612, 2017.                                   Hock C, Leh SE. Subcortical Shape Changes,         F, Latzin P. Letter to the editor. Unexpected

6
PUBLIKATIONSLISTE 2017

results in infant multiple breath washout: Is the    Kucian K. Mathematikangst: Welche Effekte hat       Lipka DB, Witte T, Toth R, Yang J, Wiesenfarth
truth hidden in the washin? Pediatr Pulmonol         Rechentraining auf das emotionale Erlebenund        M, Nöllke P, Fischer A, Brocks D, Gu Z, Park
52:717-719, 2017.                                    auf das Gehirn? Lernen und Lernstörungen            J, Strahm B, Wlodarski M, Yoshimi A, Claus
                                                     6:221, 2017.                                        R, Lübbert M, Busch H, Boerries M, Hart-
Kilday JP, Caldarelli M, Massimi L, Chen
                                                                                                         mann M, Schönung M, Kilik U, Langstein J,
RH, Lee YY, Liang ML, Parkes J, Naiker T,            Kurth S, Riedner BA, Dean DC,
                                                                                                         Wierzbinska JA, Pabst C, Garg S, Catalá A, De
van Veelen ML, Michiels E, Mallucci C, Pet-          O’Muircheartaigh J, Huber R, Jenni OG, Deoni
                                                                                                         Moerloose B, Dworzak M, Hasle H, Locatelli
torini B, Meijer L, Dorfer C, Czech T, Diezi         SCL, LeBourgeois MK. Traveling Slow Oscilla-
                                                                                                         F, Masetti R, Schmugge M, Smith O, Stary J,
M, Schouten-van Meeteren AYN, Holm S,                tions During Sleep: A Marker of Brain Connec-
                                                                                                         Ussowicz M, van den Heuvel-Eibrink MM, As-
Gustavsson B, Benesch M, Müller HL, Hoff-            tivity in Childhood. Sleep 1:40, 2017.
                                                                                                         senov Y, Schlesner M, Niemeyer C, Flotho C,
mann A, Rutkowski S, Flitsch J, Escherich G,
                                                     Laemmle A, Stricker T, Häberle J. Switch            Plass C. RAS-pathway mutation patterns define
Grotzer M, Spoudeas HA, Azquikina K, Capra
                                                     from Sodium Phenylbutyrate to Glycerol Phe-         epigenetic subclasses in juvenile myelomono-
M, Jiménez-Guerra R, MacDonald P, John-
                                                     nylbutyrate Improved Metabolic Stability in an      cytic leukemia. Nat Commun 8:2126, 2017.
ston DL, Dvir R, Constantini S, Kuo MF, Yang
                                                     Adolescent with Ornithine Transcarbamylase
SH, Bartels U. Intracystic interferon-alpha                                                              Locatelli F, Valsecchi MG, Möricke A, Zimmer-
                                                     Deficiency. JIMD Rep 31:11-14, 2017.
in pediatric craniopharyngioma patients: an                                                              mann M, Gruhn B, Biondi A, Kulozik AE, Silves-
international multicenter assessment on behalf       Lang-Muritano M, Gerster K, Sluka S,                tri D, Bodmer N, Putti MC, Burdach S, Micalizzi
of SIOPE and ISPN. Neuro Oncol 19:1398-1407,         Konrad D. Two Siblings with the Same Severe         C, Teigler-Schlegel A, Ritter J, Pession A, Cario
2017.                                                Form of 21-Hydroxylase Deficiency But Different     G, Bielack S, Basso G, Klingebiel T, Vinti L,
                                                     Growth and Menstrual Cycle Patterns. Front          Rizzari C, Attarbaschi A, Santoro N, Parasole
Knirsch W, Mayer KN, Scheer I, Tuura R,
                                                     Pediatr 5:35, 2017.                                 R, Mann G, Karawajew L, Haas OA, Conter
Schranz D, Hahn A, Wetterling K, Beck I, La-
                                                                                                         V, Schrappe M. Protocol II vs protocol III given
tal B, Reich B. Structural cerebral abnormali-       Lanini LL, Prader S, Siler U, Reichenbach
                                                                                                         twice during reinduction therapy in children with
ties and neurodevelopmental status in single         J. Modern management of phagocyte defects.
                                                                                                         medium-risk ALL. Blood 130:2146-2149, 2017.
ventricle congenital heart disease before Fontan     Pediatr Allergy Immunol 28:124-134, 2017.
procedure. Eur J Cardiothorac Surg 51:740-                                                               Lustenberger C, Mouthon AL, Tesler N,
                                                     Lauber-Biason A, Hersberger M. Metabolis-
746, 2017.                                                                                               Kurth S, Ringli M, Buchmann A, Jenni OG,
                                                     che Laboruntersuchungen bei Kindern. Pädi-
                                                                                                         Huber R. Developmental trajectories of EEG
Kohn J, Rauscher L, Käser T, Kucian K, Mc-           atrie 22:13-18, 2017.
                                                                                                         sleep slow wave activity as a marker for motor
Caskey U, Esser G, von Aster M. Effekte des
                                                     Lauber M, Plecko B, Pfiffner M, Nuoffer JM,         skill development during adolescence: a pilot
Calcularis-Trainings. Teil 1: Domänen-spezifis-
                                                     Häberle J. Effect of S-Adenosylmethionine on        study. Dev Psychobiol 59:5-14, 2017.
che Veränderungen. Lernen und Lernstörun-
                                                     Self-Mutilation in a Patient with Lesch-Nyhan
gen 6:51-63, 2017.                                                                                       Lysenko V, McHugh D, Behrmann L, Rochat
                                                     Disease. JIMD Rep 32: 51-457, 2017.
                                                                                                         MA, Wilk CM, Kovtonyuk L, Bourquin JP,
Konstantinoudis G, Kreis C, Ammann RA, Nig-
                                                     Lauener R, Eigenmann PA, Wassenberg J,              Münz C, Manz MG, Speck R, Theocharides A.
gli F, Kuehni CE, Spycher BD; Swiss Paedi-
                                                     Jung A, Denery-Papini S, Sjölander S, Pec-          Humanised mouse models for haematopoie-
atric Oncology Group and the Swiss National
                                                     quet S, Fritsché R, Zuercher A, Wermeille A,        sis and infectious diseases. Swiss Med Wkly
Cohort Study Group. Spatial clustering of child-
                                                     Fontanesi M, Mercenier A, Vissers YM, Nutten        147:w14516, 2017.
hood leukaemia in Switzerland: A nationwide
                                                     S. Oral Immunotherapy With Partially Hydro-
study. Int J Cancer 141:1324-1332, 2017.                                                                 McGinn OJ, Krishnan S, Bourquin JP, Sapra
                                                     lyzed Wheat-Based Cereals: A Pilot Study. Clin
                                                                                                         P, Dempsey C, Saha V, Stern PL. Targeting
Kornfeld S, Studer M, Winkelbeiner S,                Med Insights Pediatr 11:1-6, 2017.
                                                                                                         the 5T4 oncofetal glycoprotein with an antibody
Regényi M, Boltshauser E, Steinlin M (incl.
                                                     Lefaudeux D, De Meulder B, Loza MJ, Peffer          drug conjugate (A1mcMMAF) improves survival
Hackenberg A); Swiss Neuropediatric Stroke
                                                     N, Rowe A, Baribaud F, Bansal AT, Lutter            in patient-derived xenograft models of acute
group. Quality of life after paediatric ischaemic
                                                     R, Sousa AR, Corfield J, Pandis I, Bakke PS,        lymphoblastic leukemia. Haematologica
stroke. Dev Med Child Neurol 59:45-51, 2017.
                                                     Caruso M, Chanez P, Dahlén SE, Fleming LJ,          102:1075-1084, 2017.
Kose E, Unal O, Bulbul S, Gunduz M, Häberle          Fowler SJ, Horvath I, Krug N, Montuschi P,
                                                                                                         Maillard LG, Tassi L, Bartolomei F, Catenoix
J, Arslan N. Identification of three novel muta-     Sanak M, Sandstrom T, Shaw DE, Singer F,
                                                                                                         H, Dubeau F, Szurhaj W, Kahane P, Nica A,
tions in fourteen patients with citrullinemia type   Sterk PJ, Roberts G, Adcock IM, Djukanovic
                                                                                                         Marusic P, Mindruta I, Chassoux F, Raman-
1. Clin Biochem 50:686-689, 2017.                    R, Auffray C, Chung KF; U-BIOPRED Study
                                                                                                         tani G. Stereoelectroencephalography and
                                                     Group. U-BIOPRED clinical adult asthma
Kovaltsuk A, Krawczyk K, Galson JD, Kelly                                                                surgical outcome in polymicrogyria-related
                                                     clusters linked to a subset of sputum omics. J
DF, Deane CM, Trück J. How B-Cell Recep-                                                                 epilepsy: A multicentric study. Ann Neurol
                                                     Allergy Clin Immunol 139:1997-1807, 2017.
tor Repertoire Sequencing Can Be Enriched                                                                82:781-794, 2017.
with Structural Antibody Data. Front Immunol         Leitner L, Walter M, Jarrahi B, Wanek J, Die-
                                                                                                         Maillard L, Ramantani G. New recommenda-
8:1753, 2017.                                        fenbacher J, Michels L, Liechti MD, Kollias SS,
                                                                                                         tions of the IFCN: From scalp EEG to electrical
                                                     Kessler TM, Mehnert U. A novel infusion-drain-
Kreis C, Lupatsch JE, Niggli F, Egger M,                                                                 brain imaging. Clin Neurophysiol 128:2068-
                                                     age device to assess lower urinary tract function
Kuehni CE, Spycher BD; Swiss Paediatric                                                                  2069, 2017.
                                                     in neuro-imaging. BJU Int 119:205-316, 2017.
Oncology Group and the Swiss National
                                                                                                         Makarova O, Oschlies I, Müller S, Ruf S,
Cohort Study Group. Space-Time Clustering of         Lewis CR, Preller KH, Kraehenmann R,
                                                                                                         Zimmermann M, Niggli F, Attarbaschi A,
Childhood Leukemia: Evidence of an Association       Michels L, Staempfli P, Vollenweider FX. Two
                                                                                                         Kabickova E, Klapper W, Woessmann W,
with ETV6-RUNX1 (TEL-AML1) Fusion. PLoS              dose investigation of the 5-HT-agonist psilocy-
                                                                                                         Burkhardt B. Excellent outcome with limited
One 12:e0170020, 2017.                               bin on relative and global cerebral blood flow.
                                                                                                         treatment in paediatric patients with marginal
                                                     Neuroimage 159:70-78, 2017.
                                                                                                         zone lymphoma. Br J Haematol 2017.

                                                                                                                                                           7
PUBLIKATIONSLISTE 2017

Makki MI, Hagmann C. Regional differences             receptor excision circles: A systematic review. J   Mohr R, Thomas J, Cannizzaro V, Weiss
in interhemispheric structural fibers in healthy,     Allergy Clin Immunol Pract 5:1457-1460, 2017.       M, Schmidt AR. Impact of endotracheal tube
term infants. J Neurosci Res 95:876-884, 2017.                                                            shortening on work of breathing in neonatal and
                                                      McCaskey U, von Aster M, O’Gorman Tuura
                                                                                                          pediatric in vitro lung models. Pediatr Anaesth
Malfait F, Francomano C, Byers P, Belmont             R, Kucian K. Adolescents with Developmen-
                                                                                                          27:942-948, 2017.
J, Berglund B, Black J, Bloom L, Bowen JM,            tal Dyscalculia Do Not Have a Generalized
Brady AF, Burrows NP, Castori M, Cohen                Magnitude Deficit - Processing of Discrete and      Monostori P, Klinke G, Richter S, Baráth Á,
H, Colombi M, Demirdas S, De Backer J, De             Continuous Magnitudes. Front Hum Neurosci           Fingerhut R, Baumgartner MR, Kölker S,
Paepe A, Fournel-Gigleux S, Frank M, Ghali N,         11:102, 2017.                                       Hoffmann GF, Gramer G, Okun JG. Simultane-
Giunta C, Grahame R, Hakim A, Jeunemaitre                                                                 ous determination of 3-hydroxypropionic acid,
                                                      Meoded A, Bosemani T, Boltshauser E,
X, Johnson D, Juul-Kristensen B, Kapferer-                                                                methylmalonic acid and methylcitric acid in
                                                      Scheer I, Huisman TA, Poretti A. Diffusion Ten-
Seebacher I, Kazkaz H, Kosho T, Lavallee                                                                  dried blood spots: Second-tier LC-MS/MS assay
                                                      sor Imaging and Fiber Tractography of Pediatric
ME, Levy H, Mendoza-Londono R, Pepin M,                                                                   for newborn screening of propionic acidemia,
                                                      Posterior Fossa Malformations. Neurographics
Pope FM, Reinstein E, Robert L, Rohrbach                                                                  methylmalonic acidemias and combined rem-
                                                      7:243-261, 2017.
M, Sanders L, Sobey GJ, Van Damme T,                                                                      ethylation disorders. PloS One 12:e0184897,
Vandersteen A, van Mourik C, Voermans N,              Messerli-Bürgy N, Stülb K, Kakebeeke TH,            2017.
Wheeldon N, Zschocke J, Tinkle B. The 2017            Arhab A, Zysset AE, Leeger-Aschmann CS,
                                                                                                          Morcos M, Kilner PJ, Sahn DJ, Litt HI, Valsan-
international classification of the Ehlers-Danlos     Schmutz EA, Meyer AH, Ehlert U, Garcia-
                                                                                                          giacomo-Buechel ER, Sheehan FH. Compari-
syndromes. Am J Med Genet C Semin Med                 Burgos D, Kriemler S, Jenni OG, Puder JJ,
                                                                                                          son of systemic right ventricular function in
Genet 175:8-26, 2017.                                 Munsch S. Emotional eating is related with
                                                                                                          transposition of the great arteries after atrial
                                                      temperament but not with stress biomarkers in
Manukjan G, Bösing H, Schmugge M, Strauß                                                                  switch and congenitally corrected transposition
                                                      preschool children. Appetite 120:256-264, 2017.
G, Schulze H. Impact of genetic variants on                                                               of the great arteries. Int J Cardiovasc Imaging
haematopoiesis in patients with thrombocytope-        Metaxas C, Mathis D, Jeger C, Hersberger KE,        33:1993-2001, 2017.
nia absent radii (TAR) syndrome. Br J Haematol        Arnet I, Walter P. Early biomarker response
                                                                                                          Mordasini V, Ueda S, Aslandogmus R, Berger
179:606-617, 2016.                                    and patient preferences to oral and intramus-
                                                                                                          C, Gysin C, Hühn D, Sartori AA, Bernasconi
                                                      cular vitamin B12 substitution in primary care:
Marchal-Crespo L, Michels L, Jaeger L,                                                                    M, Nadal D. Activation of ATR-Chk1 pathway
                                                      a randomised parallel-group trial. Swiss Med
López-Olóriz J, Riener R. Effect of Error                                                                 facilitates EBV-mediated transformation of
                                                      Wkly 147:w14421, 2017.
Augmentation on Brain Activation and Motor                                                                primary tonsillar B-cells. Oncotarget 8: 6461-
Learning of a Complex Locomotor Task. Front           Meyer Sauteur PM, Marques-Maggio E,                 6474, 2017.
Neurosci 11:526, 2017.                                Relly C, Keller PM, Clarenbach CF, Berger C.
                                                                                                          Morris AA, Kožich V, Santra S, Andria G, Ben-
                                                      Asymptomatic congenital tuberculosis: A case
Marsico P, Frontzek-Weps V, Balzer J, van                                                                 Omran TI, Chakrapani AB, Crushell E, Hen-
                                                      report. Medicine 96:e7562, 2017.
Hedel HJ. Hypertonia Assessment Tool. J Child                                                             derson MJ, Hochuli M, Huemer M, Janssen
Neurol 32:132-138, 2017.                              Michels L, Christidi F, Steiger VR, Sándor PS,      MC, Maillot F, Mayne PD, McNulty J, Morrison
                                                      Gantenbein AR, Landmann G, Schreglmann              TM, Ogier H, O’Sullivan S, Pavlíková M, de
Marsico P, Mitteregger E, Balzer J, van He-
                                                      SR, Kollias S, Riederer F. Pain modulation is       Almeida IT, Terry A, Yap S, Blom HJ, Chapman
del HJ. The Trunk Control Measurement Scale:
                                                      affected differently in medication-overuse head-    KA. Guidelines for the diagnosis and manage-
reliability and discriminative validity in children
                                                      ache and chronic myofascial pain - A multimod-      ment of cystathionine beta-synthase deficiency.
and young people with neuromotor disorders.
                                                      al MRI study. Cephalalgia 37:764-779, 2017.         J Inherit Metab Dis 40:49-74, 2017.
Dev Med Child Neurol 59:706-712, 2017.
                                                      Michels L, Muthuraman M, Anwar AR, Kollias          Moser-Bracher A, Balmer C, Cavigelli A,
Marquardt L, Lacour M, Hoernes M, Opitz L,
                                                      S, Leh SE, Riese F, Unschuld PG, Siniatchkin        Satir A, Caduff Good A, Klauwer D. Digoxin
Lecca R, Volkmer B, Reichenbach J, Hohl D,
                                                      M, Gietl AF, Hock C. Changes of Functional and      Toxicity in a Neonate Caused by the Interaction
Ansari M, Ozsahin H, Güngör T, Pachlopnik
                                                      Directed Resting-State Connectivity Are Associ-     with Carvedilol. Klin Padiatr 229:90-92, 2017.
Schmid J. Letter to the editor. Unusual derma-
                                                      ated with Neuronal Oscillations, ApoE Genotype
tological presentation and immune phenotype                                                               Mouthon AL, Meyer-Heim A, Kurth S, Ringli
                                                      and Amyloid Deposition in Mild Cognitive Im-
in SCID due to an IL7R mutation: the value of                                                             M, Pugin F, van Hedel HJ, Huber R. High-
                                                      pairment. Front Aging Neurosci 9:304, 2017.
whole-exome sequencing and the potential                                                                  Density Electroencephalographic Recordings
benefit of newborn screening. J Eur Acad Der-         Miot C, Imai K, Imai C, Mancini AJ, Kucuk ZY,       During Sleep in Children and Adolescents With
matol Venereol 31:e147-e148, 2017.                    Kawai T, Nishikomori R, Ito E, Pellier I, Dupu-     Acquired Brain Injury. Neurorehabil Neural
                                                      is Girod S, Rosain J, Sasaki S, Chandrakasan        Repair 31: 462-474, 2017.
Marzel A, Shilaih M, Turk T, Campbell NK,
                                                      S, Pachlopnik Schmid J, Okano T, Colin E,
Yang WL, Böni J, Yerly S, Klimkait T, Aubert                                                              Myers KA, Mandelstam SA, Ramantani G,
                                                      Olaya-Vargas A, Yamazaki-Nakashimada M,
V, Furrer H, Calmy A, Battegay M, Cavassini                                                               Rushing EJ, de Vries BB, Koolen DA, Scheffer
                                                      Qasim W, Espinosa Padilla S, Jones A, Krol
M, Bernasconi E, Schmid P, Metzner KJ,                                                                    IE. The epileptology of Koolen-de Vries syn-
                                                      A, Cole N, Jolles S, Bleesing J, Vraetz T, Gen-
Günthard HF, Kouyos RD (incl. Nadal D);                                                                   drome: Electro-clinico-radiologic findings in 31
                                                      nery AR, Abinun M, Güngör T, Costa-Carvalho
Swiss HIV Cohort Study (SHCS). Mining for                                                                 patients. Epilepsia 58:1085-1094, 2017.
                                                      B, Condino-Neto A, Veys P, Holland SM, Uzel
pairs: shared clinic visit dates identify steady
                                                      G, Moshous D, Neven B, Blanche S, Ehl S,            Naef N, Liamlahi R, Beck I, Bernet V, Dave H,
HIV-positive partnerships. HIV Med 18:667-676,
                                                      Döffinger R, Patel SY, Puel A, Bustamante J,        Knirsch W, Latal B. Neurodevelopmental Pro-
2017.
                                                      Gelfand EW, Casanova JL, Orange JS, Picard          files of Children with Congenital Heart Disease
Mauracher AA, Pagliarulo F, Faes L, Vavas-            C. Hematopoietic stem cell transplantation in 29    at School Age. J Pediatr 188:75-81, 2017.
sori S, Güngör T, Bachmann LM, Pachlo-                patients hemizygous for hypomorphic IKBKG/
                                                                                                          Nardecchia F, Chiarotti F, Carducci C, Santa-
pnik Schmid J. Causes of low neonatal T-cell          NEMO mutations. Blood 130:1456-1467, 2017.
                                                                                                          gata S, Valentini G, Angeloni A, Blau N, Leuzzi

8
PUBLIKATIONSLISTE 2017

V. Altered tetrahydrobiopterin metabolism in pa-       Nyilas S, Schlegtendal A, Singer F, Goutaki         Hoerstrup SP, Hausenloy DJ, Ferdinandy P,
tients with phenylalanine hydroxylase deficiency.      M, Kuehni CE, Casaulta C, Latzin P, Koerner-        Maurer G, Gyöngyösi M. Sequential activation
Eur J Pediatr 176:917-924, 2017.                       Rettberg C. Alternative inert gas washout           of different pathway networks in ischemia-af-
                                                       outcomes in patients with primary ciliary dyski-    fected and non-affected myocardium, inducing
Natalucci G, Bucher HU, Von Rhein M, Bor-
                                                       nesia. Eur Respir J 49:1-11, 2017.                  intrinsic remote conditioning to prevent left
radori Tolsa C, Latal B, Adams M. Population
                                                                                                           ventricular remodeling. Sci Rep 7:43958, 2017.
based report on health related quality of life in      O’Callaghan FJ, Edwards SW, Alber FD, Han-
adolescents born very preterm. Early Hum Dev           cock E, Johnson AL, Kennedy CR, Likeman             Pearson ADJ, Pfister SM, Baruchel A,
104:7-12, 2017.                                        M, Lux AL, Mackay M, Mallick AA, Newton             Bourquin JP, Casanova M, Chesler L, Doz F,
                                                       RW, Nolan M, Pressler R, Rating D, Schmitt          Eggert A, Geoerger B, Jones DTW, Kearns PR,
Nettesheim S, Kölker S, Karall D, Häberle J,
                                                       B, Verity CM, Osborne JP; participating inves-      Molenaar JJ, Morland B, Schleiermacher G,
Posset R, Hoffmann GF, Heinrich B, Gleich F,
                                                       tigators. Safety and effectiveness of hormonal      Schulte JH, Vormoor J, Marshall LV, Zwaan
Garbade SF; Arbeitsgemeinschaft für Pädia-
                                                       treatment versus hormonal treatment with            CM, Vassal G; Executive and Biology Commit-
trische Stoffwechselstörungen (APS); Euro-
                                                       vigabatrin for infantile spasms (ICISS): a ran-     tees of the Innovative Therapies for Children
pean registry and network for Intoxication type
                                                       domised, multicentre, open-label trial. Lancet      with Cancer European Consortium. From
Metabolic Diseases (E-IMD); Erhebungsein-
                                                       Neurol 16:33-42, 2017.                              class waivers to precision medicine in paediatric
heit für Seltene Pädiatrische Erkrankungen
                                                                                                           oncology. Lancet Oncol 18:e394-e404, 2017.
in Deutschland (ESPED); Austrian Metabolic             Offenmueller S, Leiter U, Bernbeck B, Garbe
Group; Swiss Paediatric Surveillance Unit              C, Eigentler T, Borkhardt A, Friedrich Classen      Peirs S, Frismantas V, Matthijssens F, Van
(SPSU). Incidence, disease onset and short-            C, Corbacioglu S, Dirksen U, Ebetsberger-           Loocke W, Pieters T, Vandamme N, Linter-
term outcome in urea cycle disorders -cross-           Dachs G, Heinzerling L, Jorch N, Kuhlen M,          mans B, Dobay MP, Berx G, Poppe B, Goos-
border surveillance in Germany, Austria and            Lawlor J, Niggli F, Streiter M, Schneider DT,       sens S, Bornhauser BC, Bourquin JP, Van
Switzerland. Orphanet J Rare Dis 12:111, 2017.         Brecht I. Clinical characteristics and outcome of   Vlierberghe P. Targeting BET proteins improves
                                                       60 pediatric patients with malignant melanoma       the therapeutic efficacy of BCL-2 inhibition in
Neve A, Kumar KS, Tripolitsioti D, Grotzer MA,
                                                       registered with the German Pediatric Rare           T-cell acute lymphoblastic leukemia. Leukemia
Baumgartner M. Investigation of brain tissue
                                                       Tumor Registry (STEP). Klin Padiatr 229:322-        31: 2037-2047, 2017.
infiltration by medulloblastoma cells in an ex
                                                       328, 2017.
vivo model. Sci Rep 90: 2017.                                                                              Pham VT, Lacroix C, Braegger CP, Chassard
                                                       Olini N, Rothfuchs I, Azzinnari D, Pryce CR,        C. Lactate-utilizing community is associated
Niemitz M, Gunst DCM, Hövels-Gürich HH,
                                                       Kurth S, Huber R. Chronic social stress leads       with gut microbiota dysbiosis in colicky infants.
Hofbeck M, Kaulitz R, Galm C, Berger F, Nag-
                                                       to altered sleep homeostasis in mice. Behav         Sci Rep 7:11176, 2017.
dyman N, Stiller B, Borth-Bruhns T, Konzag I,
                                                       Brain Res 327:167-173, 2017.
Balmer C, Goldbeck L. Predictors of health-re-                                                             Pichler Hefti J, Hoigné-Perret P, Kottke R.
lated quality of life in children with chronic heart   Oneda B, Asadollahi R, Azzarello-Burri S,           Extensive Micorhemorrhages of the cerebellar
disease. Cardiol Young 8:1455-1464, 2017.              Niedrist D, Baldinger R, Masood R, Schinzel         peduncles after high-altitude cerebral edema.
                                                       A, Latal B, Jenni OG, Rauch A. Low-Level            High Altitude Medicine &Biology 18:182-184,
Nolting K, Park JH, Tegtmeyer LC, Zühls-
                                                       Chromosomal Mosaicism in Neurodevelopmen-           2017.
dorf A, Grüneberg M, Rust S, Reunert J, Du
                                                       tal Disorders. Mol Syndromol 5:266-271, 2017.
Chesne I, Debus V, Schulze-Bahr E, Bax-                                                                    Picker-Minh S, Hartenstein S, Proquitté H,
ter RC, Wada Y, Thiel C, van Schaftingen               Padrutt M, Bracher I, Bonassin F, Santos            Fröhler S, Raile V, Kraemer N, Apeshiotis S,
E, Fingerhut R, Marquardt T. Limitations of            Lopes B, Gruner C, Stämpfli SF, Wolber T,           Leipoldt M, Kalache KD, Morris-Rosendahl D,
galactose therapy in phosphoglucomutase 1 de-          Kretschmar O, Oxenius A, De Pasquale G,             Boltshauser E, Chen W, Kaindl AM. Pon-
ficiency. Mol Genet Metab Rep 13:33-40, 2017.          Seeliger T, Lüscher TF, Attenhofer Jost C,          tine Tegmental Cap Dysplasia in an Extremely
                                                       Greutmann M. Impact of growing cohorts of           Preterm Infant and Review of the Literature. J
Notter J, FreyTirri B, Bally F, Aebi Popp K,
                                                       adults with congenital heart disease on clinical    Child Neurol 32:334-340, 2017.
Yaron M, Nadal D, Cavassini M, Hauser C, Ver-
                                                       workload: a 20-year experience at a tertiary
nazza P, Schmidt AJ, Itin P, Fehr J, CalmyA,                                                               Plecko B, Zweier M, Begemann A, Mathis D,
                                                       care centre. Swiss Med Wkly 147:w14443,
Low N, Tarr P. Sexuell übertragene Infektionen                                                             Schmitt B, Striano P, Baethmann M, Vari MS,
                                                       2017.
mit Clamydia trachomatis. Swiss Medical                                                                    Beccaria F, Zara F, Crowther LM, Joset P,
Forum 34:705-711, 2017.                                Patcas R, van Waes HJ, Daum MM, Landolt             Sticht H, Papuc SM, Rauch A. Confirmation of
                                                       MA. Tooth Fairy guilty of favouritism! Med J        mutations in PROSC as a novel cause of vitamin
Novak I, Morgan C, Adde L, Blackman J,
                                                       Aust 207:482-486, 2017.                             B 6 -dependent epilepsy. J Med Genet 54:809-
Boyd RN, Brunstrom-Hernandez J, Cioni
                                                                                                           814, 2017.
G, Damiano D, Darrah J, Eliasson AC, de                Pavo N, Lukovic D, Zlabinger K, Lorant D, Go-
Vries LS, Einspieler C, Fahey M, Fehlings D,           liasch G, Winkler J, Pils D, Auer K, Ankersmit      Plecko B. A Message to the Readers of Neuro-
Ferriero DM, Fetters L, Fiori S, Forssberg H,          HJ, Giricz Z, Sárközy M, Jakab A, Garamvölgyi       pediatrics. 48:1-2, 2017.
Gordon AM, Greaves S, Guzzetta A, Hadders-             R, Emmert MY, Hoerstrup SP, Hausenloy DJ,
                                                                                                           Plessl T, Bürer C, Lutz S, Yue WW, Baum-
Algra M, Harbourne R, Kakooza-Mwesige A,               Ferdinandy P, Maurer G, Gyöngyösi M. Intrinsic
                                                                                                           gartner MR, Froese DS. Protein destabilization
Karlsson P, Krumlinde-Sundholm L, Latal                remote conditioning of the myocardium as a
                                                                                                           and loss of protein-protein interaction are fun-
B, Loughran-Fowlds A, Maitre N, McIntyre S,            comprehensive cardiac response to ischemia and
                                                                                                           damental mechanisms in cblA-type methylma-
Noritz G, Pennington L, Romeo DM, Shepherd             reperfusion. Oncotarget 8:67227-67240, 2017.
                                                                                                           lonic aciduria. Hum Mutat 38:988-1001, 2017
R, Spittle AJ, Thornton M, Valentine J, Walker
                                                       Pavo N, Lukovic D, Zlabinger K, Zimba A, Lor-
K, White R, Badawi N. Early, Accurate Diag-                                                                Plomgaard AM, Alderliesten T, Austin T,
                                                       ant D, Goliasch G, Winkler J, Pils D, Auer K,
nosis and Early Intervention in Cerebral Palsy:                                                            van Bel F, Benders M, Claris O, Dempsey E,
                                                       Jan Ankersmit H, Giricz Z, Baranyai T, Sárközy
Advances in Diagnosis and Treatment. JAMA                                                                  Fumagalli M, Gluud C, Hagmann C, Hyttel-
                                                       M, Jakab A, Garamvölgyi R, Emmert MY,
Pediatr 171:897-907, 2017.                                                                                 Sorensen S, Lemmers P, van Oeveren W,

                                                                                                                                                               9
You can also read