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Number of items: 22.

Giunta, Cecilia; Baumann, Matthias; Fauth, Christine; Lindert, Uschi; Abdalla, Ebtesam M; Brady, Angela F; Collins, James; Dastgir, Jahannaz; Donkervoort, Sandra; Ghali, Neeti; Johnson, Diana S; Kariminejad, Ariana; Koch, Johannes; Kraenzlin, Marius; Lahiri, Nayana; Lozic, Bernarda; Manzur, Adnan Y; Morton, Jenny E V; Pilch, Jacek; Pollitt, Rebecca C; Schreiber, Gudrun; Shannon, Nora L; Sobey, Glenda; Vandersteen, Anthony; van Dijk, Fleur S; Witsch-Baumgartner, Martina; Zschocke, Johannes; Pope, F Michael; Bönnemann, Carsten G; Rohrbach, Marianne (2018). A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history. Genetics in Medicine, 20(1):42-54.

Lindert, Uschi; Gnoli, M; Maioli, M; Bedeschi, M F; Sangiorgi, L; Rohrbach, M; Giunta, Cecilia (2018). Insight into the Pathology of a COL1A1 Signal Peptide Heterozygous Mutation Leading to Severe Osteogenesis Imperfecta. Calcified tissue international, 102(3):373-379.

Malfait, Fransiska; Francomano, Clair; Byers, Peter; Belmont, John; Berglund, Britta; Black, James; Bloom, Lara; Bowen, Jessica M; Brady, Angela F; Burrows, Nigel P; Castori, Marco; Cohen, Helen; Colombi, Marina; Demirdas, Serwet; De Backer, Julie; De Paepe, Anne; Fournel-Gigleux, Sylvie; Frank, Michael; Ghali, Neeti; Giunta, Cecilia; Grahame, Rodney; Hakim, Alan; Jeunemaitre, Xavier; Johnson, Diana; Juul-Kristensen, Birgit; Kapferer-Seebacher, Ines; Kazkaz, Hanadi; Kosho, Tomoki; Lavallee, Mark E; Levy, Howard; Mendoza-Londono, Roberto; Pepin, Melanie; Pope, F. Michael; Reinstein, Eyal; Robert, Leema; Rohrbach, Marianne; Sanders, Lynn; Sobey, Glenda J; Van Damme, Tim; Vandersteen, Anthony; van Mourik, Caroline; Voermans, Nicol; Wheeldon, Nigel; Zschocke, Johannes; Tinkle, Brad (2017). The 2017 international classification of the Ehlers-Danlos syndromes. American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 175(1):8-26.

Brady, Angela F; Demirdas, Serwet; Fournel-Gigleux, Sylvie; Ghali, Neeti; Giunta, Cecilia; Kapferer-Seebacher, Ines; Kosho, Tomoki; Mendoza-Londono, Roberto; Pope, Michael F; Rohrbach, Marianne; Van Damme, Tim; Vandersteen, Anthony; van Mourik, Caroline; Voermans, Nicol; Zschocke, Johannes; Malfait, Fransiska (2017). The Ehlers-Danlos syndromes, rare types. American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 175(1):70-115.

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.

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.

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.

Burda, Patricie; Schäfer, Alexandra; Suormala, Terttu; Rummel, Till; Bürer, Céline; Heuberger, Dorothea; Frapolli, Michele; Giunta, Cecilia; Sokolová, Jitka; Vlášková, Hana; Kožich, Viktor; Koch, Hans Georg; Fowler, Brian; Froese, D Sean; Baumgartner, Matthias R (2015). Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients. Human Mutation, 36(6):611-621.

Porter, Louise F; Gallego-Pinazo, Roberto; Keeling, Catherine L; Kamieniorz, Martyna; Zoppi, Nicoletta; Colombi, Marina; Giunta, Cecilia; Bonshek, Richard; Manson, Forbes D; Black, Graeme C (2015). Bruch's membrane abnormalities in PRDM5-related brittle cornea syndrome. Orphanet Journal of Rare Diseases, 10(145):online.

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.

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.

Balasubramanian, Meena; Parker, Michael J; Dalton, Ann; Giunta, Cecilia; Lindert, Uschi; Peres, Luiz C; Wagner, Bart E; Arundel, Paul; Offiah, Amaka; Bishop, Nicholas J (2013). Genotype-phenotype study in type V osteogenesis imperfecta. Clinical Dysmorphology, 22(3):93-101.

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.

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.

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.

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 Sep 23 04:38:51 2018 CEST.