UZH-Logo

Maintenance Infos

Browse by Creators - Zurich Open Repository and Archive

Navigate back| Up a level
Export as
Number of items: 68.

Bader, Ingrid; Decker, E; Mayr, J A; Lunzer, V; Koch, J; Boltshauser, E; Sperl, W; Pietsch, P; Ertl-Wagner, B; Bolz, H; Bergmann, C; Rittinger, O (2016). MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum. European Journal of Medical Genetics, 59(8):386-391.

Bosemani, T; Baum, J; Meoded, A; Boltshauser, E; Huisman, T A; Poretti, A (2015). Impaired growth and abnormal microstructure of supratentorial gray and white matter regions in a child with Joubert syndrome. Neurographics, 5(5):209-213.

Boltshauser, E; Poretti, A (2015). Normvarianten und Zufallsbefunde in der pädiatrischen MR-Diagnostik. Neuropaediatrie in Klinik und Praxis, 14(2):40-44.

Schwabe, G C; Bächli, H; Boltshauser, E; Kaindl, A M (2014). Entwicklungsstörungen des Nervensystems. In: Hoffmann, G F; Lentze, M J; Spranger, F. Pädiatrie.Grundlagen und Praxis. Heidelberg: Springer Verlag, 1652-1669.

Poretti, A; Risen, S; Meoded, A; Northington, F J; Johnston, M V; Boltshauser, E; Huisman, T A (2013). Cerebellar agenesis: An extreme form of cerebellar disruption in preterm neonates. Journal of Pediatric Neuroradiology, 2(2):163-167.

Leiba, H; Jaggi, G P; Boltshauser, E; Landau, K (2013). Prediction of the clinical outcome of cavernous sinus lesions in children. Neuropediatrics, 44(04):191-198.

Poretti, A; Boltshauser, E (2011). "Arima syndrome and bilateral retinoblastoma in interstitial deletion of 13q14.13-q32.3": where is the molar tooth sign? Brain and Development, 33(5):445-447.

Bigi, S; Fischer, U; Wehrli, E; Mattle, H P; Boltshauser, E; Bürki, S; Jeannet, P Y; Fluss, J; Weber, P; Nedeltchev, K; El-Koussy, M; Steinlin, M; Arnold, M (2011). Acute ischemic stroke in children versus young adults. Annals of Neurology, 70(2):245-254.

Bigi, S; Capone Mori, A; Steinlin, M; Remonda, L; Landolt, H; Boltshauser, E (2011). Cavernous malformations of the central nervous system in children: presentation, treatment and outcome of 20 cases. European Journal of Paediatric Neurology, 15(2):109-116.

Valente, E M; Brancati, F; Boltshauser, E; Dallapiccola, B (2011). Clinical utility gene card for: Joubert syndrome. European Journal of Human Genetics, 19(9):online.

Martin, C; von Elm, E; El-Koussy, M; Boltshauser, E; Steinlin, M (2011). Delayed diagnosis of acute ischemic stroke in children - a registry-based study in Switzerland. Swiss Medical Weekly, 141:w13281.

Perret, C; Boltshauser, E; Scheer, I; Kellenberger, C J; Grotzer, M A (2011). Incidental findings of mass lesions on neuroimages in children. Neurosurgical Focus, 31(6):E20.

Kau, T; Karlo, C; Güngör, T; Prietsch, V; Kellenberger, C J; Scheer, I; Boltshauser, E (2011). Increased cerebellar volume in the early stage of fucosidosis: a case control study. Neuroradiology, 53(7):509-516.

Harting, I; Kotzaeridou, U; Poretti, A; Seitz, A; Pietz, J; Bendszus, M; Boltshauser, E (2011). Interpeduncular heterotopia in Joubert syndrome: a previously undescribed MR finding. AJNR. American Journal of Neuroradiology, 32(7):1286-1289.

Poretti, A; Huisman, T A G M; Scheer, I; Boltshauser, E (2011). Joubert syndrome and related disorders: spectrum of neuroimaging findings in 75 patients. AJNR. American Journal of Neuroradiology, 32(8):1459-1463.

Wingeier, K; Bigi, S; El-Koussy, M; Heinks-Maldonado, T; Boltshauser, E; Steinlin, M (2011). Long-term sequelae after acquired pediatric hemorrhagic cerebellar lesions. Child's Nervous System, 27(6):923-931.

Dafinger, C; Liebau, M C; Elsayed, S M; Hellenbroich, Y; Boltshauser, E; Korenke, G C; Fabretti, F; Janecke, A R; Ebermann, I; Nürnberg, G; Nürnberg, P; Zentgraf, H; Koerber, F; Addicks, K; Elsobky, E; Benzing, T; Schermer, B; Bolz, H J (2011). Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. Journal of Clinical Investigation, 121(7):2662-2667.

Toelle, S P; Weibel, L; Schiegl, H; Boltshauser, E (2011). Phacomatosis pigmentovascularis and extensive venous malformation of brain vessels: an unknown association or a new vascular neurocutaneous syndrome? Neuropediatrics, 42(6):234-236.

Grotzer, M (2011). Posterior Fossa Tumors. In: Boltshauser, E; Schmahmann, J. Cerebellar Disorders in Children. London, UK: MacKeith , 336-350.

Poretti, A; Singhi, S; Huisman, T A G M; Meoded, A; Jallo, G; Ozturk, A; Boltshauser, E; Tekes, A (2011). Tecto-cerebellar dysraphism with occipital encephalocele: not a distinct disorder, but part of the Joubert syndrome spectrum? Neuropediatrics, 42(4):170-174.

Kau, T; Gysin, C; Dohmen-Scheufler, H; Brotschi, B; Schiegl, H; Kellenberger, C J; Boltshauser, E; Scheer, I (2011). Transsphenoidal extension of heterotopic glioneuronal tissue: pathoanatomic considerations in symptomatic neonates. Child's Nervous System, 27(5):771-778.

Grunt, S; Wingeier, K; Wehrli, E; Boltshauser, E; Capone, A; Fluss, J; Gubser-Mercati, D; Jeannet, P Y; Keller, E; Marcoz, J P; Schmitt-Mechelke, T; Weber, P; Weissert, M; Steinlin, M (2010). Cerebral sinus venous thrombosis in Swiss children. Developmental Medicine and Child Neurology, 52(12):1145-1150.

Kau, T; Malek, M; Teichler, J; Kellenberger, C J; Boltshauser, E; Scheer, I (2010). Diffusion tensor imaging at 3 T in bilateral schizencephaly with interruption of the corpus callosum. Archives of Neurology, 67(12):1531-1532.

Ekici, A B; Hilfinger, D; Jatzwauk, M; Thiel, C T; Wenzel, D; Lorenz, I; Boltshauser, E; Goecke, T W; Staatz, G; Morris-Rosendahl, D J; Sticht, H; Hehr, U; Reis, A; Rauch, A (2010). Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Media Diverticulum. Molecular Syndromology:99-112.

Ekici, A B; Hilfinger, D; Jatzwauk, M; Thiel, C T; Wenzel, D; Lorenz, I; Boltshauser, E; Goecke, T W; Staatz, G; Morris-Rosendahl, D J; Sticht, H; Hehr, U; Reis, A; Rauch, A (2010). Disturbed wnt signalling due to a mutation in CCDC88C causes an autosomal recessive non-syndromic hydrocephalus with medial diverticulum. Molecular Syndromology, 1(3):99-112.

Zimoń, M; Baets, J; Auer-Grumbach, M; et al; Boltshauser, E (2010). Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies. Brain: A Journal of Neurology, 133(Pt 6):1798-1809.

Sukhudyan, B; Jaladyan, V; Melikyan, G; Schlump, J U; Boltshauser, E; Poretti, A (2010). Gómez-López-Hernández syndrome: reappraisal of the diagnostic criteria. European Journal of Pediatrics, 169(12):1523-1528.

Wiame, E; Tyteca, D; Pierrot, N; Collard, F; Amyere, M; Noel, G; Desmedt, J; Nassogne, M C; Vikkula, M; Octave, J N; Vincent, M F; Courtoy, P J; Boltshauser, E; van Schaftingen, E (2010). Molecular identification of aspartate N-acetyltransferase and its mutation in hypoacetylaspartia. Biochemical Journal, 425(1):127-136.

Valente, E M; Logan, C V; Mougou-Zerelli, S; Lee, J H; Silhavy, J L; Brancati, F; Iannicelli, M; Travaglini, L; Romani, S; Illi, B; Adams, M; Szymanska, K; Mazzotta, A; Lee, J E; Tolentino, J C; Swistun, D; Salpietro, C D; Fede, C; Gabriel, S; Russ, C; Cibulskis, K; Sougnez, C; Hildebrandt, F; Otto, E A; Held, S; Diplas, B H; Davis, E E; Mikula, M; Strom, C M; Ben-Zeev, B; Lev, D; Sagie, T L; Michelson, M; Yaron, Y; Krause, A; Boltshauser, E; Elkhartoufi, N; Roume, J; Shalev, S; Munnich, A; Saunier, S; Inglehearn, C; Saad, A; Alkindy, A; Thomas, S; Vekemans, M; Dallapiccola, B; Katsanis, N; Johnson, C A; Attié-Bitach, T; Gleeson, J G (2010). Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nature Genetics, 42(7):619-625.

Buerki, S; Roellin, K; Remonda, L; Mercati, D G; Jeannet, P Y; Keller, E; Luetschg, J; Menache, C; Ramelli, G P; Schmitt-Mechelke, T; Weissert, M; Boltshauser, E; Steinlin, M (2010). Neuroimaging in childhood arterial ischaemic stroke: evaluation of imaging modalities and aetiologies. Developmental Medicine and Child Neurology, 52(11):1033-1037.

Iannicelli, M; Brancati, F; Mougou-Zerelli, S; Mazzotta, A; Thomas, S; Elkhartoufi, N; Travaglini, L; Gomes, C; Ardissino, G L; Bertini, E; Boltshauser, E; Castorina, P; D'Arrigo, S; Fischetto, R; Leroy, B; Loget, P; Bonnière, M; Starck, L; Tantau, J; Gentilin, B; Majore, S; Swistun, D; Flori, E; Lalatta, F; Pantaleoni, C; Penzien, J; Grammatico, P; Dallapiccola, B; Gleeson, J G; Attie-Bitach, T; Valente, E M (2010). Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. Human Mutation, 31(5):E1319-E1331.

Sturm, V; Leiba, H; Menke, M N; Valente, E M; Poretti, A; Landau, K; Boltshauser, E (2010). Ophthalmological findings in Joubert syndrome. Eye, 24(2):222-225.

Sturm, V; Leiba, H; Menke, M N; Valente, E M; Poretti, A; Landau, K; Boltshauser, E (2010). Ophthalmologicalfindings in Joubert syndrome. Eye, 24(2):222-225.

Poretti, A; Limperopoulos, C; Roulet-Perez, E; Wolf, N I; Rauscher, C; Prayer, D; Müller, A; Weissert, M; Kotzaeridou, U; Du Plessis, A J; Huisman, T A G M; Boltshauser, E (2010). Outcome of severe unilateral cerebellar hypoplasia. Developmental Medicine and Child Neurology, 52(8):718-724.

Wolff, A; Koch, M J; Benzinger, S; van Waes, H; Wolf, N I; Boltshauser, E; Luder, H U (2010). Rare dental peculiarities associated with the hypomyelinating leukoencephalopathy 4H syndrome/ADDH. Pediatric Dentistry, 32(5):386-392.

Schmitt, B; Weissbrich, B; Boltshauser, E; Teichler, J (2010). Subakute sklerosierende Panenzephalitis (SSPE). Swiss Medical Forum, 10(8):154-155.

Poretti, A; Boltshauser, E (2009). "Rhombencephalosynapsis associated with Dandy-Walker malformation" is a molar tooth malformation. Journal of Neuroimaging, 19(2):198.

Poretti, A; Huisman, T A G M; Cowan, F M; Del Giudice, E; Jeannet, P Y; Prayer, D; Rutherford, M A; du Plessis, A J; Limperopoulos, C; Boltshauser, E (2009). Cerebellar cleft: confirmation of the neuroimaging pattern. Neuropediatrics, 40(5):228-233.

Poretti, A; Dietrich Alber, F; Bürki, S; Toelle, S P; Boltshauser, E (2009). Cognitive outcome in children with rhombencephalosynapsis. European Journal of Paediatric Neurology, 13(1):28-33.

Kukal, K; Dobrovoljac, M; Boltshauser, E; Ammann, R A; Grotzer, M A (2009). Does diagnostic delay result in decreased survival in paediatric brain tumours? European Journal of Pediatrics, 168(3):303-310.

Dill, P; Poretti, A; Boltshauser, E; Huisman, T A G M (2009). Fetal magnetic resonance imaging in midline malformations of the central nervous system and review of the literature. Journal of Neuroradiology, 36(3):138-146.

Bauder, F; Beinder, E; Arlettaz, R; Albisetti, M; Boltshauser, E; Gessler, P (2009). Intrauterine subdural hemorrhage in a preterm neonate possibly associated with maternal low-molecular weight heparin treatment. Journal of Perinatology, 29(7):521-523.

Zuzak, T J; Balmer, B; Schmidig, D; Boltshauser, E; Grotzer, M A (2009). Magnetic toys: forbidden for pediatric patients with certain programmable shunt valves? Child's Nervous System, 25(2):161-164.

Poretti, A; Prayer, D; Boltshauser, E (2009). Morphological spectrum of prenatal cerebellar disruptions. European Journal of Paediatric Neurology, 13(5):397-407.

Bielas, S L; Silhavy, J L; Brancati, F; Kisseleva, M V; Al-Gazali, L; Sztriha, L; Bayoumi, R A; Zaki, M S; Abdel-Aleem, A; Rosti, R O; Kayserili, H; Swistun, D; Scott, L C; Bertini, E; Boltshauser, E; Fazzi, E; Travaglini, L; Field, S J; Gayral, S; Jacoby, M; Schurmans, S; Dallapiccola, B; Majerus, P W; Valente, E M; Gleeson, J G (2009). Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. Nature Genetics, 41(9):1032-6.

Rauscher, C; Poretti, A; Neuhann, T M; Forstner, R; Hahn, G; Koch, J; Tinschert, S; Boltshauser, E (2009). Pontine tegmental cap dysplasia: the severe end of the clinical spectrum. Neuropediatrics, 40(1):43-46.

Smith Pearl, M; Abdalla, W M A; Lin, D D M; Comi, A M; Boltshauser, E; Gailloud, P; Huisman, T A G M (2009). Sturge-Weber syndrome with cerebellar involvement. Journal of Neuroradiology, 36(1):57-60.

Poretti, A; Anheier, T; Zimmermann, R; Boltshauser, E; Swiss Pediatric Surveillance Unit (SPSU) (2008). Neural tube defects in Switzerland from 2001 to 2007: are periconceptual folic acid recommendations being followed? Swiss Medical Weekly, 138(41-42):608-613.

Bartholdi, D; Toelle, S P; Steiner, B; Boltshauser, E; Schinzel, A; Riegel, M (2008). Blepharophimosis and mental retardation (BMR) phenotypes caused by chromosomal rearrangements: description in a boy with partial trisomy 10q and monosomy 4q and review of the literature. European Journal of Medical Genetics, 51(2):113-123.

Poretti, Andrea; Huisman, Thierry A G M; Tolnay, M; Brehmer, U; Schmitt, B; Boltshauser, E (2008). Beteiligung der Pons bei schwerer hypoxisch-ischämischer Enzephalopathie bei Termingeborenen. Aktuelle Neuropädiatrie:257-261.

Poretti, A; Leventer, R J; Cowan, F M; Rutherford, M A; Steinlin, M; Klein, A; Scheer, I; Huisman, T A G M; Boltshauser, E (2008). Cerebellar cleft: a form of prenatal cerebellar disruption. Neuropediatrics, 39(2):106-112.

Boltshauser, E (2008). Cerebellar hypoplasis. In: Sarnat, H B; Curatolo, P. Malformations of the nervous system. Amsterdam, NL: Elsevier, 115-127.

Smith, T; Tekes, A; Boltshauser, E; Huisman, T A G M (2008). Commissural malformations: beyond the corpus callosum. Journal of Neuroradiology = Journal de Neuroradiologie, 35(5):301-303.

Poretti, A; Wolf, N I; Boltshauser, E (2008). Differential diagnosis of cerebellar atrophy in childhood. European Journal of Paediatric Neurology, 12(3):155-167.

Messerschmidt, A; Fuiko, R; Prayer, D; Brugger, P C; Boltshauser, E; Zoder, G; Sterniste, W; Weber, M; Birnbacher, R (2008). Disrupted cerebellar development in preterm infants is associated with impaired neurodevelopmental outcome. European Journal of Pediatrics, 167(10):1141-1147.

Poretti, A; Bartholdi, D; Gobara, S; Alber, F D; Boltshauser, E (2008). Gomez-Lopez-Hernandez syndrome: an easily missed diagnosis. European Journal of Medical Genetics, 51(3):197-208.

Poretti, A; Zehnder, D; Boltshauser, E; Grotzer, M A (2008). Long-term complications and quality of life in children with intraspinal tumors. Pediatric Blood & Cancer, 50(4):844-848.

Gerber, N U; Zehnder, D; Zuzak, T J; Poretti, A; Boltshauser, E; Grotzer, M A (2008). Outcome in children with brain tumours diagnosed in the first year of life: long-term complications and quality of life. Archives of Disease in Childhood, 93(7):582-589.

Zuzak, T J; Poretti, A; Drexel, B; Zehnder, D; Boltshauser, E; Grotzer, M A (2008). Outcome of children with low-grade cerebellar astrocytoma: long-term complications and quality of life. Child's Nervous System, 24(12):1447-1455.

Poretti, A; Brehmer, U; Scheer, I; Bernet, V; Boltshauser, E (2008). Prenatal and neonatal MR imaging findings in oral-facial-digital syndrome type VI. American Journal of Neuroradiology, 29(6):1090-1091.

Schoberer, A; Yagmur, E; Boltshauser, E; Korinth, M; Niggemann, P; Häusler, Martin (2008). Sub-aponeurotic fluid collections: a delayed-onset self-limiting cerebrospinal fluid fistula in young infants. European Journal of Paediatric Neurology, 12(5):401-403.

Mautner, V F; Boltshauser, E (2008). Treatment and management of neurofibromatosis 1. In: Kaufmann, D. Neurofibromatoses. Basel: Karger, 21-31.

Budde, B S; Namavar, Y; Barth, P G; Poll-The, B T; Nürnberg, G; Becker, C; van Ruissen, F; Weterman, M A J; Fluiter, K; te Beek, E T; Aronica, E; van der Knaap, M S; Höhne, W; Toliat, M R; Crow, Y J; Steinling, M; Voit, T; Roelens, F; Brussel, W; Brockmann, K; Kyllerman, M; Boltshauser, E; Hammersen, G; Willemsen, M A; Basel-Vanagaite, L; Krägeloh-Mann, I; de Vries, L S; Sztriha, L; Muntoni, F; Ferrie, C D; Battini, R; Hennekam, R C M; Grillo, E; Beemer, F A; Stoets, L M E; Wollnik, B; Nürnberg, P; Baas, F (2008). tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. Nature Genetics, 40(9):1113-1118.

Zamboni, S L; Loenneker, T; Boltshauser, E; Martin, E; Il'yasov, K A (2007). Contribution of diffusion tensor MR imaging in detecting cerebral microstructural changes in adults with neurofibromatosis type 1. AJNR. American Journal of Neuroradiology, 28(4):773-776.

Bartholdi, D; Klein, A; Weissert, M; Koenig, N; Baumer, A; Boltshauser, E; Schinzel, A; Berger, W; Mátyás, G (2006). Clinical profiles of four patients with Rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the MECP2 gene. Clinical Genetics, 69(4):319-326.

Bosch, M M; Boltshauser, E; Harpes, P; Landau, K (2006). Ophthalmologic findings and long-term course in patients with neurofibromatosis type 2. American Journal of Ophthalmology, 141(6):1068-1077.

Ribi, K; Relly, C; Landolt, M A; Alber, F D; Boltshauser, E; Grotzer, M A (2005). Outcome of medulloblastoma in children: long-term complications and quality of life. Neuropediatrics, 36(6):357-365.

Hergersberg, M; Glatzel, M; Capone, A; Achermann, S; Hagmann, A; Fischer, J; Ersch, J; Aguzzi, A; Boltshauser, E (2000). Deletions in the spinal muscular atrophy gene region in a newborn with neuropathy and extreme generalized muscular weakness. European Journal of Paediatric Neurology, 4(1):35-38.

This list was generated on Thu Jul 27 02:45:27 2017 CEST.