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Steinmann, B; Santer, R (2016). Disorders of fructose metabolism. In: Saudubray, J M; Baumgartner, M R; Walters, J. Inborn Metabolic Diseases-Diagnosis and Treatment. Berlin Heidelberg: Springer, Berlin, 161-168.

Steinmann, B; Santer, R (2012). Disorders of Fructose Metabolism. In: Saudubray, G; van den Berghe, G; Walter, J H. Inborn Metabolic Diseases - Diagnosis and Treatment. Berlin: Springer, 157-165.

Sarikaya, H; Yilmaz, M; Michael, N; Miserez, A R; Steinmann, B; Baumgartner, R W (2012). Zurich Fabry study - prevalence of Fabry disease in young patients with first cryptogenic ischaemic stroke or TIA. European Journal of Neurology, 19(11):1421-1426.

Schlotawa, L; Ennemann, E C; Radhakrishnan, K; Schmidt, B; Chakrapani, A; Christen, H J; Moser, H; Steinmann, B; Dierks, T; Gärtner, J (2011). SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency. European Journal of Human Genetics, 19(3):253-261.

Kostandyan, N; Britschgi, C; Matevosyan, A; Oganezova, A; Davtyan, A; Blau, N; Steinmann, B; Thöny, B (2011). The spectrum of phenylketonuria genotypes in the Armenian population: identification of three novel mutant PAH alleles. Molecular Genetics and Metabolism, 104(Suppl.):S93-S96.

Kariminejad, A; Bozorgmehr, B; Khatami, A R; Kariminejad, M H; Giunta, C; Steinmann, B (2010). Ehlers-Danlos syndrome type VI in a 17-year-old Iranian boy with severe muscular weakness – a diagnostic challenge? Iranian Journal of Pediatrics, 20(3):358-362.

Brakch, N; Dormond, O; Bekri, S; Golshayan, D; Correvon, M; Mazzolai, L; Steinmann, B; Barbey, F (2010). Evidence for a role of sphingosine-1 phosphate in cardiovascular remodelling in Fabry disease. European Heart Journal, 31(1):67-76.

Meienberg, J; Rohrbach, M; Neuenschwander, S; Spanaus, K; Giunta, C; Alonso, S; Arnold, E; Henggeler, C; Regenass, S; Patrignani, A; Azzarello-Burri, S; Steiner, B; Nygren, A; Carrel, T; Steinmann, B; Matyas, G (2010). Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency. European Journal of Human Genetics, 18(12):1315-1321.

Hässig, M; Steinmann, B; Wittenbrink, M M (2010). Nutzen von klinischen und labordiagnostischen Parametern zur Diagnostik der Endometritis des Rindes. Schweizer Archiv für Tierheilkunde, 152(9):411-416.

Rüfenacht, S; Straub, R; Steinmann, B; Winand, N; Bidaut, A; Stoffel, M H; Gerber, V; Wyder, M; Müller, E; Roosje, P J (2010). Schweizer Warmblutfohlen mit Symptomen von hereditärer dermaler Asthenie (HERDA) ohne Mutation im Cyclophilin B-Gen (PPIB). Schweizer Archiv für Tierheilkunde, 152(4):188-192.

Magyar, I; Colman, D; Arnold, E; Baumgartner, D; Bottani, A; Fokstuen, S; Addor, M C; Berger, W; Carrel, T; Steinmann, B; Mátyás, G (2009). Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes. Human Mutation, 30(9):1355-1364.

Dündar, M; Müller, T; Zhang, Q; Pan, J; Steinmann, B; Vodopiutz, J; Gruber, R; Sonoda, T; Krabichler, B; Utermann, G; Baenziger, J U; Zhang, L; Janecke, A R (2009). Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome. American Journal of Human Genetics, 85(6):873-882.

Wasik, J S; Simon, R W; Meier, T; Steinmann, B; Amann-Vesti, B R (2009). Nailfold capillaroscopy: Specific features in Fabry disease. Clinical Hemorheology and Microcirculation, 42(2):99-106.

Giunta, C; Bürer-Chambaz, C; Steinmann, B (2009). Novel human pathological mutations. Gene symbol: PLOD1. Disease: Ehlers-Danlos syndrome type VIA, kyphoscoliotic type. Human Genetics, 125(3):346.

Kraenzlin, M E; Kraenzlin, C A; Meier, C; Giunta, C; Steinmann, B (2008). Automated HPLC assay for urinary collagen cross-links: effect of age, menopause, and metabolic bone diseases. Clinical Chemistry, 54(9):1546-1553.

Steinmann, B (2008). Disorders of fructose metabolism. In: Goldman, L; Ausiello, D A. Cecil Medicine (23rd ed.). Philadelphia, Pa., US: Saunders, 1561-1563.

Bosshard, N U; Steinmann, B (2008). Enzymes and metabolites of carbohydrate metabolism. In: Blau, N; Duran, K M. Laboratory Guide to the Methods in Biochemical Genetics. Berlin: Springer Verlag, 417-471.

Hennies, H C; Kornak, U; Zhang, H; Egerer, J; Zhang, X; Seifert, W; Kühnisch, J; Budde, B; Nätebus, M; Brancati, F; Wilcox, W R; Müller, D; Kaplan, P B; Rajab, A; Zampino, G; Fodale, V; Dallapiccola, B; Newman, W; Metcalfe, K; Clayton-Smith, J; Tassabehji, M; Steinmann, B; Barr, F A; Nürnberg, P; Wieacker, P; Mundlos, S (2008). Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. Nature Genetics, 40(12):1410-1412.

Immer, F; Marti, P; Steinmann, B; Carrel, T (2008). Lebensqualität herzoperierter und nicht herzoperierter Marfan-Patienten in der Schweiz. In: Hagmann, A. Herzsache : Gesundheitskompetenz und Empowerment bei chronischen körperlichen Beeinträchtigungen am Beispiel des Marfan-Syndroms. Bern: Marfan Stiftung Schweiz, 33-41.

Giunta, C; Elçioglu, N H; Albrecht, B; Eich, G; Chambaz, C; Janecke, A R; Yeowell, H; Weiss, M; Eyre, D R; Kraenzlin, M; Steinmann, B (2008). Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome - an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13. American Journal of Human Genetics, 82(6):1290-1305.

Giunta, C; Chambaz, C; Pedemonte, M; Scapolan, S; Steinmann, B (2008). The arthrochalasia type of Ehlers-Danlos syndrome (EDS VIIA and VIIB): the diagnostic value of collagen fibril ultrastructure. American Journal of Medical Genetics. Part A, 146A(10):1341-1346.

Mátyás, G; Alonso, S; Patrignani, A; Marti, M; Arnold, E; Magyar, I; Henggeler, C; Carrel, T; Steinmann, B; Berger, W (2007). Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome. Human Genetics, 122(1):23-32.

Baumgartner, C; Mátyás, G; Steinmann, B; Eberle, M; Stein, J I; Baumgartner, D (2006). A bioinformatics framework for genotype-phenotype correlation in humans with Marfan syndrome caused by FBN1 gene mutations. Journal of Biomedical Informatics, 39(2):171-183.

Baumgartner, D; Baumgartner, C; Schermer, E; Engl, G; Schweigmann, U; Matyas, G; Steinmann, B; Stein, J I (2006). Different patterns of aortic wall elasticity in patients with Marfan syndrome: a noninvasive follow-up study. Journal of Thoracic and Cardiovascular Surgery, 132(4):811-819.

Matyas, G; Arnold, E; Carrel, T; Baumgartner, D; Boileau, C; Berger, W; Steinmann, B (2006). Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders. Human Mutation, 27(8):760-769.

Al-Hussain, H; Zeisberger, S M; Huber, P R; Giunta, C; Steinmann, B (2004). Brittle cornea syndrome and its delineation from the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI): report on 23 patients and review of the literature. American Journal of Medical Genetics. Part A, 124A(1):28-34.

Sander, P; Böttger, E C; Springer, B; Steinmann, B; Rezwan, M; Stavropoulos, E; Colston, M J (2003). A recA deletion mutant of Mycobacterium bovis BCG confers protection equivalent to that of wild-type BCG but shows increased genetic stability. Vaccine, 21(27-30):4124-4127.

Baerlocher, K E; Steinmann, B; Aguzzi, A; Krähenbühl, S; Roe, C R; Vianey-Saban, C (1997). Short-chain acyl-CoA dehydrogenase deficiency in a 16-year-old girl with severe muscle wasting and scoliosis. Journal of Inherited Metabolic Disease, 20(3):427-431.

This list was generated on Wed Nov 22 18:21:41 2017 CET.