Uni Basel Research Database

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Publications

Showing records 1 - 20 (of 28)

Publication: JournalArticle (Originalarbeit in einer wissenschaftlichen Zeitschrift)

ID	Author	Year	Title	Publisher
1192680	Filges, Isabel; Röthlisberger, Benno; Boesch, Nemya; Weber, Peter; Wenzel, Friedel; Huber, Andreas R; Heinimann, Karl; Miny, Peter	2010	Interstitial deletion 1q42 in a patient with agenesis of corpus callosum : Phenotype-genotype comparison to the 1q41q42 microdeletion suggests a contiguous 1q4 syndrome	American journal of medical genetics. Part A
1194271	Bigi, Sandra; Fischer, Urs; Wehrli, Edith; Mattle, Heinrich P; Boltshauser, Eugen; Bürki, Sarah; Jeannet, Pierre-Yves; Fluss, Joel; Weber, Peter; Nedeltchev, Krassen; El-Koussy, Marwan; Steinlin, Maja; Arnold, Marcel	2011	Acute ischemic stroke in children versus young adults	Annals of neurology
1192682	Filges, I.; Roethlisberger, B.; Blattner, A.; Boesch, N.; Demougin, P.; Wenzel, F.; Huber, A. R.; Heinimann, K.; Weber, P.; Miny, P.	2011	Deletion in Xp22.11 : PTCHD1 is a candidate gene for X-linked intellectual disability with or without autism	Clinical genetics
1195568	Grunt, Sebastian; Wingeier, Kevin; Wehrli, Edith; Boltshauser, Eugen; Capone, Andrea; Fluss, Joel; Gubser-Mercati, Danielle; Jeannet, Pierre-Yves; Keller, Elmar; Marcoz, Jean-Pierre; Schmitt-Mechelke, Thomas; Weber, Peter; Weissert, Markus; Steinlin, Maja; Swiss Neuropaediatric Stroke Registry	2010	Cerebral sinus venous thrombosis in Swiss children	Developmental medicine and child neurology
1194886	Weber, P.	2009	Decreased fractional anisotropy in the middle cerebellar peduncle in children with epilepsy and / or attention deficit/hyperactivity disorder : a preliminary study	Epilepsy & behavior
104745	Penner, Iris-Katharina	2009	Effects of methylphenidate on working memory functioning in children with attention deficit/hyperactivity disorder	European journal of paediatric neurology
1192528	Emmert,S; Ueda,T; Zumsteg,U; Weber,P; Khan,SG; Oh,KS; Boyle,J; Laspe,P; Zachmann,K; Boeckmann,L; Kuschal,C; Bircher,A; Kraemer,KH	2009	Strict sun protection results in minimal skin changes in a patient with xeroderma pigmentosum and a novel c.2009delG mutation in XPD (ERCC2)	Experimental dermatology
1196691	Zimmer, Klaus-Peter; Fischer, Ina; Mothes, Thomas; Weissen-Plenz, Gabriele; Schmitz, Martina; Wieser, Herbert; Büning, Jürgen; Lerch, Markus M; Ciclitira, Paul C; Weber, Peter; Naim, Hassan Y	2010	Endocytotic segregation of gliadin peptide 31-49 in enterocytes	Gut
108075	van Kuilenburg, André B P; Meijer, Judith; Mul, Adri N P M; Hennekam, Raoul C M; Hoovers, Jan M N; de Die-Smulders, Christine E M; Weber, Peter; Mori, Andrea Capone; Bierau, Jörgen; Fowler, Brian; Macke, Klaus; Sass, Jörn Oliver; Meinsma, Rutger; Hennermann, Julia B; Miny, Peter; Zoetekouw, Lida; Vijzelaar, Raymon; Nicolai, Joost; Ylstra, Bauke; Rubio-Gozalbo, M Estela	2009	Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3)	Human genetics
1193605	Denora, Paola S; Schlesinger, David; Casali, Carlo; Kok, Fernando; Tessa, Alessandra; Boukhris, Amir; Azzedine, Hamid; Dotti, Maria Teresa; Bruno, Claudio; Truchetto, Jeremy; Biancheri, Roberta; Fedirko, Estelle; Di Rocco, Maja; Bueno, Clarissa; Malandrini, Alessandro; Battini, Roberta; Sickl, Elisabeth; de Leva, Maria Fulvia; Boespflug-Tanguy, Odile; Silvestri, Gabriella; Simonati, Alessandro; Said, Edith; Ferbert, Andreas; Criscuolo, Chiara; Heinimann, Karl; Modoni, Anna; Weber, Peter; Palmeri, Silvia; Plasilova, Martina; Pauri, Flavia; Cassandrini, Denise; Battisti, Carla; Pini, Antonella; Tosetti, Michela; Hauser, Erwin; Masciullo, Marcella; Di Fabio, Roberto; Piccolo, Francesca; Denis, Elodie; Cioni, Giovanni; Massa, Roberto; Della Giustina, Elvio; Calabrese, Olga; Melone, Marina A B; De Michele, Giuseppe; Federico, Antonio; Bertini, Enrico; Durr, Alexandra; Brockmann, Knut; van der Knaap, Marjo S; Zatz, Mayana; Filla, Alessandro; Brice, Alexis; Stevanin, Giovanni; Santorelli, Filippo M	2009	Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion	Human mutation : variations, databases, and diseases
1195117	Weber, Peter	2010	Levetiracetam in nonconvulsive status epilepticus in a child with Angelman syndrome	Journal of child neurology
1196148	Filges, Isabel; Shimojima, Keiko; Okamoto, Nobuhiko; Röthlisberger, Benno; Weber, Peter; Huber, Andreas R; Nishizawa, Tsutomu; Datta, Alexandre N; Miny, Peter; Yamamoto, Toshiyuki	2011	Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome	Journal of medical genetics
2724991	Perkinson-Gloor, Nadine; Hagmann-von Arx, Priska; Brand, Serge; Holsboer-Trachsler, Edith; Grob, Alexander; Weber, Peter; Lemola, Sakari	2015	The role of sleep and the hypothalamic-pituitary-adrenal axis for behavioral and emotional problems in very preterm children during middle childhood	Journal of psychiatric research
1195691	Weber, P; Bächli, H; Schneider, J	2011	Chronic headaches : change as challenge	Klinische Pädiatrie
1192905	Frey, Sarabel G.; Chelo, David; Kinkela, Mina N.; Djoukoue, Florence; Tietche, Felix; Hatz, Christoph; Weber, Peter	2010	Artesunate-mefloquine combination therapy in acute Plasmodium falciparum malaria in young children: a field study regarding neurological and neuropsychiatric safety	Malaria Journal
1194199	Dill, Patricia; Schneider, Jacques; Weber, Peter; Trachsel, Daniel; Tekin, Mustafa; Jakobs, Cornelis; Thöny, Beat; Blau, Nenad	2011	Pyridoxal phosphate-responsive seizures in a patient with cerebral folate deficiency (CFD) and congenital deafness with labyrinthine aplasia, microtia and microdontia (LAMM)	Molecular genetics and metabolism
1473775	Penner, Iris-Katharina; Hubacher, Martina; Rasenack, Maria; Sprenger, Till; Weber, Peter; Naegelin, Yvonne	2012	Utility of neuropsychological testing for guiding treatment decisions in paediatric multiple sclerosis	Multiple sclerosis journal
2729495	Hagmann-von Arx, Priska; Perkinson-Gloor, Nadine; Brand, Serge; Albert, Djana; Holsboer-Trachsler, Edith; Grob, Alexander; Weber, Peter; Lemola, Sakari	2014	In school-age children who were born very preterm sleep efficiency is associated with cognitive function	Neuropsychobiology
1196521	van Kuilenburg, A. B. P.; Meijer, J.; Gokcay, G.; Baykal, T.; Rubio-Gozalbo, M. E.; Mul, A. N. P. M.; de Die-Smulders, C. E. M.; Weber, P.; Mori, A. Capone; Bierau, J.; Fowler, B.; Macke, K.; Sass, J. O.; Meinsma, R.; Hennermann, J. B.; Miny, P.; Zoetekouw, L.; Roelofsen, J.; Vijzelaar, R.; Nicolai, J.; Hennekam, R. C. M.	2010	Dihydropyrimidine dehydrogenase deficiency caused by a novel genomic deletion c.505_513del of DPYD	Nucleosides, nucleotides & nucleic acids
3304162	Hagmann-von Arx, Priska; Manicolo, Olivia; Perkinson-Gloor, Nadine; Weber, Peter; Grob, Alexander; Lemola, Sakari	2015	Gait in very preterm school-aged children in dual-task paradigms	PLoS ONE

Showing records 1 - 20 (of 28)

29/04/2024

Research Database / FORSCHUNGSDATENBANK