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Number of items: 13.

Santer, René; du Moulin, Marcel; Shahinyan, Tatevik; Vater, Inga; Maier, Esther; Muntau, Ania C; Steinmann, Beat (2016). A summary of molecular genetic findings in fructose-1,6-bisphosphatase deficiency with a focus on a common long-range deletion and the role of MLPA analysis. Orphanet Journal of Rare Diseases, 11:40-50.

Janecke, Andreas R; Li, Ben; Boehm, Manfred; Krabichler, Birgit; Rohrbach, Marianne; Müller, Thomas; Fuchs, Irene; Golas, Gretchen; Katagiri, Yasuhiro; Ziegler, Shira G; Gahl, William A; Wilnai, Yael; Zoppi, Nicoletta; Geller, Herbert M; Giunta, Cecilia; Slavotinek, Anne; Steinmann, Beat (2016). The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations. American Journal of Medical Genetics. Part A, 170(1):103-115.

Meienberg, Janine; Zerjavic, Katja; Keller, Irene; Okoniewski, Michal; Patrignani, Andrea; Ludin, Katja; Xu, Zhenyu; Steinmann, Beat; Carrel, Thierry; Röthlisberger, Benno; Schlapbach, Ralph; Bruggmann, Rémy; Matyas, Gabor (2015). New insights into the performance of human whole-exome capture platforms. Nucleic Acids Research, 43(11):e76.

Rohrbach, Marianne; Spencer, Helen L; Porter, Louise F; Burkitt-Wright, Emma M M; Bürer, Céline; Janecke, Andreas; Bakshi, Madhura; Sillence, David; Al-Hussain, Hailah; Baumgartner, Matthias; Steinmann, Beat; Black, Graeme C M; Manson, Forbes D C; Giunta, Cecilia (2013). ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components. Molecular Genetics and Metabolism, 109(3):289-295.

Schoenhoff, Florian S; Jungi, Silvan; Czerny, Martin; Roost, Eva; Reineke, David; Matyas, Gabor; Steinmann, Beat; Schmidli, Juerg; Kadner, Alexander; Carrel, Thierry (2013). Acute aortic dissection determines the fate of initially untreated aortic segments in Marfan syndrome. Circulation, 127(15):1569-1575.

Afroze, Bushra; Yunus, Zabedah; Steinmann, Beat; Santer, René (2013). Transient pseudo-hypertriglyceridemia: a useful biochemical marker of fructose-1,6-bisphosphatase deficiency. European Journal of Pediatrics, 172(9):1249-1253.

Mayr, Johannes A; Haack, Tobias B; Graf, Elisabeth; Zimmermann, Franz A; Wieland, Thomas; Haberberger, Birgit; Superti-Furga, Andrea; Kirschner, Janbernd; Steinmann, Beat; Baumgartner, Matthias R; Moroni, Isabella; Lamantea, Eleonora; Zeviani, Massimo; Rodenburg, Richard J; Smeitink, Jan; Strom, Tim M; Meitinger, Thomas; Sperl, Wolfgang; Prokisch, Holger (2012). Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome. American Journal of Human Genetics, 90(2):314-320.

Baumann, Matthias; Giunta, Cecilia; Krabichler, Birgit; Rüschendorf, Franz; Zoppi, Nicoletta; Colombi, Marina; Bittner, Reginald E; Quijano-Roy, Susana; Muntoni, Francesco; Cirak, Sebahattin; Schreiber, Gudrun; Zou, Yaqun; Hu, Ying; Romero, Norma Beatriz; Carlier, Robert Yves; Amberger, Albert; Deutschmann, Andrea; Straub, Volker; Rohrbach, Marianne; Steinmann, Beat; Rostásy, Kevin; Karall, Daniela; Bönnemann, Carsten G; Zschocke, Johannes; Fauth, Christine (2012). Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss. American Journal of Human Genetics, 90(2):201-216.

Nitschke, Yvonne; Baujat, Geneviève; Botschen, Ulrike; Wittkampf, Tanja; du Moulin, Marcel; Stella, Jacqueline; Le Merrer, Martine; Guest, Geneviève; Lambot, Karen; Tazarourte-Pinturier, Marie-Frederique; Chassaing, Nicolas; Roche, Olivier; Feenstra, Ilse; Loechner, Karen; Deshpande, Charu; Garber, Samuel J; Chikarmane, Rashmi; Steinmann, Beat; Shahinyan, Tatevik; Martorell, Loreto; Davies, Justin; Smith, Wendy E; Kahler, Stephen G; McCulloch, Mignon; Wraige, Elizabeth; Loidi, Lourdes; Höhne, Wolfgang; Martin, Ludovic; Hadj-Rabia, Smaïl; Terkeltaub, Robert; Rutsch, Frank (2012). Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6. American Journal of Human Genetics, 90(1):25-39.

Santy, Ky; Nan, Phang; Chantana, Yay; Laurent, Denis; Scheer, Ianina; Steinmann, Beat; Nadal, David; Richner, Beat (2012). Non-invasive diagnosis of lung tuberculosis in children by single voxel ¹H-magnetic resonance spectroscopy. European Journal of Pediatrics, 171(8):1257-1263.

Jeong, Jeeyon; Walker, Joel M; Wang, Fudi; Park, J Genevieve; Palmer, Amy E; Giunta, Cecilia; Rohrbach, Marianne; Steinmann, Beat; Eide, David J (2012). Promotion of vesicular zinc efflux by ZIP13 and its implications for spondylocheiro dysplastic Ehlers-Danlos syndrome. Proceedings of the National Academy of Sciences of the United States of America, 109(51):E3530-E3538.

Balmer, Christian; Ballhausen, Diana; Bosshard, Nils U; Steinmann, Beat; Boltshauser, Eugen; Bauersfeld, Urs; Superti-Furga, Andrea (2005). Familial X-linked cardiomyopathy (Danon disease): diagnostic confirmation by mutation analysis of the LAMP2gene. European Journal of Pediatrics, 164(8):509-514.

Bonthron, David T; Brady, Nlcola; Donaldson, lain A; Steinmann, Beat (1994). Molecular basis of essential fructosuria: molecular cloning and mutational analysis of human ketohexokinase (fructokinase). Human Molecular Genetics, 3(9):1627-1631.

This list was generated on Wed Nov 21 13:17:53 2018 CET.