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Number of items: 32.

Schänzer, Anne; Kaiser, Ann-Kathrin; Mühlfeld, Christian; Kulessa, Martin; Paulus, Werner; von Pein, Harald; Rohrbach, Marianne; Viergutz, Lara; Mengel, Eugen; Marquardt, Thorsten; Neubauer, Bernd; Acker, Till; Hahn, Andreas (2017). Quantification of muscle pathology in infantile Pompe disease. Neuromuscular Disorders : NMD, 27(2):141-152.

Gaisl, Thomas; Giunta, Cecilia; Bratton, Daniel J; Sutherland, Kate; Schlatzer, Christian; Sievi, Noriane; Franzen, Daniel; Cistulli, Peter A; Rohrbach, Marianne; Kohler, Malcolm (2017). Obstructive sleep apnoea and quality of life in Ehlers-Danlos syndrome: a parallel cohort study. Thorax, 72(8):729-735.

Schwerd, Tobias; Pandey, Sumeet; Yang, Huei-Ting; Bagola, Katrin; Jameson, Elisabeth; Jung, Jonathan; Lachmann, Robin H; Shah, Neil; Patel, Smita Y; Booth, Claire; Runz, Heiko; Düker, Gesche; Bettels, Ruth; Rohrbach, Marianne; Kugathasan, Subra; Chapel, Helen; Keshav, Satish; Elkadri, Abdul; Platt, Nick; Muise, Alexio M; Koletzko, Sibylle; Xavier, Ramnik J; Marquardt, Thorsten; Powrie, Fiona; Wraith, James E; Gyrd-Hansen, Mads; Platt, Frances M; Uhlig, Holm H (2017). Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann-Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's disease. Gut, 66(6):1060-1073.

Kalkum, Gisela; Pitz, Susanne; Karabul, Nesrin; Beck, Michael; Pintos-Morell, Guillem; Parini, Rossella; Rohrbach, Marianne; Bizjajeva, Svetlana; Ramaswami, Uma (2016). Paediatric Fabry disease: prognostic significance of ocular changes for disease severity. BMC Ophthalmology, 16(202):online.

Kapferer-Seebacher, Ines; Pepin, Melanie; Werner, Roland; Aitman, Timothy J; Nordgren, Ann; Stoiber, Heribert; Thielens, Nicole; Gaboriaud, Christine; Amberger, Albert; Schossig, Anna; Gruber, Robert; Giunta, Cecilia; Bamshad, Michael; Björck, Erik; Chen, Christina; Chitayat, David; Dorschner, Michael; Schmitt-Egenolf, Marcus; Hale, Christopher J; Hanna, David; Hennies, Hans Christian; Heiss-Kisielewsky, Irene; Lindstrand, Anna; Lundberg, Pernilla; Mitchell, Anna L; Nickerson, Deborah A; Reinstein, Eyal; Rohrbach, Marianne; Romani, Nikolaus; Schmuth, Matthias; et al (2016). Periodontal Ehlers-Danlos syndrome is caused by mutations in C1R and C1S, which encode subcomponents C1r and C1s of complement. American Journal of Human Genetics, 99(5):1005-1014.

Van Damme, Tim; Colige, Alain; Syx, Delfien; Giunta, Cecilia; Lindert, Uschi; Rohrbach, Marianne; Aryani, Omid; Alanay, Yasemin; Simsek-Kiper, Pelin Özlem; Kroes, Hester Y; Devriendt, Koen; Thiry, Marc; Symoens, Sofie; De Paepe, Anne; Malfait, Fransiska (2016). Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type. Genetics in Medicine, 18(9):882-91.

Lindert, Uschi; Cabral, Wayne A; Ausavarat, Surasawadee; Tongkobpetch, Siraprapa; Ludin, Katja; Barnes, Aileen M; Yeetong, Patra; Weis, Maryann; Krabichler, Birgit; Srichomthong, Chalurmpon; Makareeva, Elena N; Janecke, Andreas R; Leikin, Sergey; Röthlisberger, Benno; Rohrbach, Marianne; Kennerknecht, Ingo; Eyre, David R; Suphapeetiporn, Kanya; Giunta, Cecilia; Marini, Joan C; Shotelersuk, Vorasuk (2016). MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta. Nature Communications, 7:11920.

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.

Rodieux, Frederique; Pfister, Marc; Van den Anker, Johannes N; Rohrbach, Marianne; Schuknecht, Bernhard; Gaspert, Ariana; Palla, Antonella; Nowak, Albina (2016). Unexplained peripheral neuropathic pain and/or stroke. Swiss Archives of Neurology, Psychiatry and Psychotherapy, 167(3):74-80.

Lindert, Uschi; Weis, Mary Ann; Rai, Jyoti; Seeliger, Frank; Hausser, Ingrid; Leeb, Tosso; Eyre, David; Rohrbach, Marianne; Giunta, Cecilia (2015). Molecular Consequences of the SERPINH1/HSP47 Mutation in the Dachshund Natural Model of Osteogenesis Imperfecta. Journal of Biological Chemistry, 290(29):17679-89.

Klinke, Glynis; Rohrbach, Marianne; Giugliani, Roberto; Burda, Patricie; Baumgartner, Matthias R; Tran, Christel; Gautschi, Matthias; Mathis, Déborah; Hersberger, Martin (2015). LC-MS/MS based assay and reference intervals in children and adolescents for oxysterols elevated in Niemann-Pick diseases. Clinical Biochemistry, (48):596-602.

Ahting, Uwe; Mayr, Johannes A; Vanlander, Arnaud V; Hardy, Steven A; Santra, Saikat; Makowski, Christine; Alston, Charlotte L; Zimmermann, Franz A; Abela, Lucia; Plecko, Barbara; Rohrbach, Marianne; Spranger, Stephanie; Seneca, Sara; Rolinski, Boris; Hagendorff, Angela; Hempel, Maja; Sperl, Wolfgang; Meitinger, Thomas; Smet, Joél; Taylor, Robert W; Van Coster, Rudy; Freisinger, Peter; Prokisch, Holger; Haack, Tobias B (2015). Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency. Frontiers in Genetics:6:123.

Abdalla, Ebtesam M; Rohrbach, Marianne; Bürer, Céline; Kraenzlin, Marius; El-Tayeby, Hazem; Elbelbesy, Mervat F; Nabil, Amira; Giunta, Cecilia (2015). Kyphoscoliotic type of Ehlers-Danlos Syndrome (EDS VIA) in six Egyptian patients presenting with a homogeneous clinical phenotype. European Journal of Pediatrics, 174(1):105-112.

Hahn, Andreas; Praetorius, Susanne; Karabul, Nesrin; Dießel, Johanna; Schmidt, Dorle; Motz, Reinald; Haase, Claudia; Baethmann, Martina; Hennermann, Julia B; Smitka, Martin; Santer, René; Muschol, Nicole; Meyer, Ann; Marquardt, Thorsten; Huemer, Martina; Thiels, Charlotte; Rohrbach, Marianne; Seyfullah, Gökce; Mengel, Eugen (2015). Outcome of patients with classical infantile pompe disease receiving enzyme replacement therapy in Germany. In: Zschocke, Johannes; Baumgartner, Matthias; Morava, Eva; Patterson, Marc; Rahman, Shamima; Peters, Verena. JMID Reports. Berlin Heidelberg: Springer, 65-75.

Patterson, Marc C; Mengel, Eugen; Vanier, Marie T; Schwierin, Barbara; Muller, Audrey; Cornelisse, Peter; Pineda, Mercè; Rohrbach, Marianne (2015). Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort study. Orphanet Journal of Rare Diseases, 10(65):online.

Jost, Christine; Rohrbach, Marianne; Matyas, Gabor; Schoenhoff, Florian; Baumgartner, Matthias; Oxenius, Angela; Carrel, Thierry; Huebler, Michael; Min, Kan; De Pasquale, Gabriella; Landau, Klara; Kretschmar, Oliver; Odavic, Dragan; Vogt, Paul; Faletra, Francesco; Greutmann, Matthias (2015). Syndrome de Marfan. Swiss Medical Forum, 15(29-30):674-683.

Lindert, Uschi; Kraenzlin, Marius; Campos-Xavier, Ana Belinda; Baumgartner, Matthias R; Bonafé, Luisa; Giunta, Cecilia; Rohrbach, Marianne (2015). Urinary pyridinoline cross-links as biomarkers of osteogenesis imperfecta. Orphanet Journal of Rare Diseases, 10(104):online.

Abela, Lucia; Plecko, Barbara; Palla, Antonella; Burda, Patricie; Nuoffer, Jean-Marc; Ballhausen, Diana; Rohrbach, Marianne (2014). Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study. Orphanet Journal of Rare Diseases, 9:176.

Attenhofer Jost, Christine H; Greutmann, Matthias; Connolly, Heidi M; Weber, Roland; Rohrbach, Marianne; Oxenius, Angela; Kretschmar, Oliver; Luscher, Thomas F; Matyas, Gabor (2014). Medical treatment of aortic aneurysms in Marfan syndrome and other heritable conditions. Current Cardiology Reviews, 10(2):161-171.

Rohrbach, Marianne. Molecular and Clinical Delineation of Inherited Connective Tissue Disorders. 2014, University of Zurich, Faculty of Medicine.

Hundsberger, Thomas; Rohrbach, Marianne; Kern, Lukas; Rösler, Kai M (2013). Swiss national guideline for reimbursement of enzyme replacement therapy in late-onset Pompe disease. Journal of Neurology, 260(9):2279-2285.

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.

Burkitt Wright, Emma M M; Porter, Louise F; Spencer, Helen L; Clayton-Smith, Jill; Au, Leon; Munier, Francis L; Smithson, Sarah; Suri, Mohnish; Rohrbach, Marianne; Manson, Forbes D C; Black, Graeme C M (2013). Brittle cornea syndrome: recognition, molecular diagnosis and management. Orphanet Journal of Rare Diseases, 8:68.

Eder, Johanna; Laccone, Franco; Rohrbach, Marianne; Giunta, Cecilia; Aumayr, Klaus; Reichel, Christofer; Trautinger, Franz (2013). A new COL3A1 mutation in Ehlers-Danlos syndrome type IV. Experimental Dermatology, 22(3):231-234.

Bonafe, Luisa; Giunta, Cecilia; Hasler, Carol; Janner, Marco C; Kränzlin, Marius; Link, Bianca; Meier, Christian; Ramseier, Leonhard E; Rohrbach, Marianne; Unger, Sheila (2013). Osteogenesis imperfecta: Klinik, Diagnose und Management vom Kindes- bis ins Erwachsenenalter. Swiss Medical Forum, 13(46):925-931.

Kaplan, Paige; Baris, Hagit; De Meirleir, Linda; Di Rocco, Maja; El-Beshlawy, Amal; Huemer, Martina; Martins, Ana Maria; Nascu, Ioana; Rohrbach, Marianne; Steinbach, Lynne; Cohen, Ian J (2013). Revised recommendations for the management of Gaucher disease in children. European Journal of Pediatrics, 172(4):447-458.

Ramaswami, Uma; Stull, Donald E; Parini, Rossella; Pintos-Morell, Guillem; Whybra, Catharina; Kalkum, Gisela; Rohrbach, Marianne; Raluy-Callado, Mireia; Beck, Michael; Chen, Wen-Hung; Wiklund, Ingela (2012). Measuring patient experiences in Fabry disease: validation of the Fabry-specific Pediatric Health and Pain Questionnaire (FPHPQ). Health and Quality of Life Outcomes, 10:116.

Rohrbach, Marianne; Giunta, Cecilia (2012). Recessive osteogenesis imperfecta: clinical, radiological, and molecular findings. American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 160C(3):175-189.

Martínez-Glez, Víctor; Valencia, Maria; Caparrós-Martín, José A; Aglan, Mona; Temtamy, Samia; Tenorio, Jair; Pulido, Veronica; Lindert, Uschi; Rohrbach, Marianne; Eyre, David; Giunta, Cecilia; Lapunzina, Pablo; Ruiz-Perez, Victor L (2012). Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta. Human Mutation, 33(2):343-350.

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.

van Dijk, Fleur S; Byers, Peter H; Dalgleish, Raymond; Malfait, Fransiska; Maugeri, Alessandra; Rohrbach, Marianne; Symoens, Sofie; Sistermans, Erik A; Pals, Gerard (2012). EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta. European Journal of Human Genetics, 20(1):11-19.

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.

This list was generated on Sun Dec 17 18:43:31 2017 CET.