Medullary nephrocalcinosis in an adult patient with idiopathic infantile hypercalcaemia and a novel CYP24A1 mutation

von Meusburger, Edgar, Mündlein, Axel, Zitt, Emanuel, Obermayer-Pietsch, Barbara, Kotzot, Dieter, Lhotta, Karl
Veröffentlicht 2013

Medullary nephrocalcinosis in an adult patient with idiopathic infantile hypercalcaemia and a novel CYP24A1 mutation

von Meusburger, Edgar, Mündlein, Axel, Zitt, Emanuel, Obermayer-Pietsch, Barbara, Kotzot, Dieter, Lhotta, Karl
Veröffentlicht in Clin Kidney J (2013)

Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation

von Frühmesser, Anne, Blake, Jonathon, Haberlandt, Edda, Baying, Bianka, Raeder, Benjamin, Runz, Heiko, Spreiz, Ana, Fauth, Christine, Benes, Vladimir, Utermann, Gerd, Zschocke, Johannes, Kotzot, Dieter
Veröffentlicht 2013

Elevated Heart Rate Triggers Action Potential Alternans and Sudden Death. Translational Study of a Homozygous KCNH2 Mutation

von Schweigmann, Ulrich, Biliczki, Peter, Ramirez, Rafael J., Marschall, Christoph, Takac, Ina, Brandes, Ralf P., Kotzot, Dieter, Girmatsion, Zenawit, Hohnloser, Stefan H., Ehrlich, Joachim R.
Veröffentlicht 2014

A microdeletion of less than 250 kb, including the proximal part of the FMR-1 gene and the fragile-X site, in a male with the clinical phenotype of fragile-X syndrome

von Wöhrle, Doris, Kotzot, Dieter, Hirst, Mark C., Manca, Antonella, Korn, Bernhard, Schmidt, Angela, Barbi, Gotthold, Rott, Hans-Dieter, Poustka, Annemarie, Davies, Kay E., Steinbach, Peter
Veröffentlicht 1992

Bisphosphonates in multicentric osteolysis, nodulosis and arthropathy (MONA) spectrum disorder – an alternative therapeutic approach

von Pichler, Karin, Karall, Daniela, Kotzot, Dieter, Steichen-Gersdorf, Elisabeth, Rümmele-Waibel, Alexandra, Mittaz-Crettol, Laureane, Wanschitz, Julia, Bonafé, Luisa, Maurer, Kathrin, Superti-Furga, Andrea, Scholl-Bürgi, Sabine
Veröffentlicht in Sci Rep (2016)

Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome

von Schossig, Anna, Wolf, Nicole I., Fischer, Christine, Fischer, Maria, Stocker, Gernot, Pabinger, Stephan, Dander, Andreas, Steiner, Bernhard, Tönz, Otmar, Kotzot, Dieter, Haberlandt, Edda, Amberger, Albert, Burwinkel, Barbara, Wimmer, Katharina, Fauth, Christine, Grond-Ginsbach, Caspar, Koch, Martin J., Deichmann, Annette, von Kalle, Christof, Bartram, Claus R., Kohlschütter, Alfried, Trajanoski, Zlatko, Zschocke, Johannes
Veröffentlicht 2012

Identification and Functional Characterization of Three NoLS (Nucleolar Localisation Signals) Mutations of the CDC73 Gene

von Pazienza, Valerio, la Torre, Annamaria, Baorda, Filomena, Alfarano, Michela, Chetta, Massimiliano, Muscarella, Lucia Anna, Battista, Claudia, Copetti, Massimiliano, Kotzot, Dieter, Kapelari, Klaus, Al-Abdulrazzaq, Dalia, Perlman, Kusiel, Sochett, Etienne, Cole, David E. C., Pellegrini, Fabio, Canaff, Lucie, Hendy, Geoffrey N., D’Agruma, Leonardo, Zelante, Leopoldo, Carella, Massimo, Scillitani, Alfredo, Guarnieri, Vito
Veröffentlicht 2013

Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease

von Guo, Dong-chuan, Duan, Xue-Yan, Regalado, Ellen S., Mellor-Crummey, Lauren, Kwartler, Callie S., Kim, Dong, Lieberman, Kenneth, de Vries, Bert B.A., Pfundt, Rolph, Schinzel, Albert, Kotzot, Dieter, Shen, Xuetong, Yang, Min-Lee, Bamshad, Michael J., Nickerson, Deborah A., Gornik, Heather L., Ganesh, Santhi K., Braverman, Alan C., Grange, Dorothy K., Milewicz, Dianna M.
Veröffentlicht in Am J Hum Genet (2017)

The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered

von Brinkmann, Julia, Lissewski, Christina, Pinna, Valentina, Vial, Yoann, Pantaleoni, Francesca, Lepri, Francesca, Daniele, Paola, Burnyte, Birute, Cuturilo, Goran, Fauth, Christine, Gezdirici, Alper, Kotzot, Dieter, Güleç, Elif Yılmaz, Iotova, Violeta, Schanze, Denny, Ramond, Francis, Havlovicová, Markéta, Utine, Gulen Eda, Simsek-Kiper, Pelin Ozlem, Stoyanova, Milena, Verloes, Alain, De Luca, Alessandro, Tartaglia, Marco, Cavé, Hélène, Zenker, Martin
Veröffentlicht in Eur J Hum Genet (2020)

Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

von Rice, Gillian , Patrick, Teresa , Parmar, Rekha , Taylor, Claire F. , Aeby, Alec , Aicardi, Jean , Artuch, Rafael , Montalto, Simon Attard , Bacino, Carlos A. , Barroso, Bruno , Baxter, Peter , Benko, Willam S. , Bergmann, Carsten , Bertini, Enrico , Biancheri, Roberta , Blair, Edward M. , Blau, Nenad , Bonthron, David T. , Briggs, Tracy , Brueton, Louise A. , Brunner, Han G. , Burke, Christopher J. , Carr, Ian M. , Carvalho, Daniel R. , Chandler, Kate E. , Christen, Hans-Jürgen , Corry, Peter C. , Cowan, Frances M. , Cox, Helen , D’Arrigo, Stefano , Dean, John , De Laet, Corinne , De Praeter, Claudine , Déry, Catherine , Ferrie, Colin D. , Flintoff, Kim , Frints, Suzanna G. M. , Garcia-Cazorla, Angels , Gener, Blanca , Goizet, Cyril , Goutières, Françoise , Green, Andrew J. , Guët, Agnès , Hamel, Ben C. J. , Hayward, Bruce E. , Heiberg, Arvid , Hennekam, Raoul C. , Husson, Marie , Jackson, Andrew P. , Jayatunga, Rasieka , Jiang, Yong-Hui , Kant, Sarina G. , Kao, Amy , King, Mary D. , Kingston, Helen M. , Klepper, Joerg , van der Knaap, Marjo S. , Kornberg, Andrew J. , Kotzot, Dieter , Kratzer, Wilfried , Lacombe, Didier , Lagae, Lieven , Landrieu, Pierre Georges , Lanzi, Giovanni , Leitch, Andrea , Lim, Ming J. , Livingston, John H. , Lourenco, Charles M. , Lyall, E. G. Hermione , Lynch, Sally A. , Lyons, Michael J. , Marom, Daphna , McClure, John P. , McWilliam, Robert , Melancon, Serge B. , Mewasingh, Leena D. , Moutard, Marie-Laure , Nischal, Ken K. , Østergaard, John R. , Prendiville, Julie , Rasmussen, Magnhild , Rogers, R. Curtis , Roland, Dominique , Rosser, Elisabeth M. , Rostasy, Kevin , Roubertie, Agathe , Sanchis, Amparo , Schiffmann, Raphael , Scholl-Bürgi, Sabine , Seal, Sunita , Shalev, Stavit A. , Corcoles, C. Sierra , Sinha, Gyan P. , Soler, Doriette , Spiegel, Ronen , Stephenson, John B. P. , Tacke, Uta , Tan, Tiong Yang , Till, Marianne , Tolmie, John L. , Tomlin, Pam , Vagnarelli, Federica , Valente, Enza Maria , Van Coster, Rudy N. A. , Van der Aa, Nathalie , Vanderver, Adeline , Vles, Johannes S. H. , Voit, Thomas , Wassmer, Evangeline , Weschke, Bernhard , Whiteford, Margo L. , Willemsen, Michel A. A. , Zankl, Andreas , Zuberi, Sameer M. , Orcesi, Simona , Fazzi, Elisa , Lebon, Pierre , Crow, Yanick J. 
Veröffentlicht 2007