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

著者: Meusburger, Edgar, Mündlein, Axel, Zitt, Emanuel, Obermayer-Pietsch, Barbara, Kotzot, Dieter, Lhotta, Karl
出版事項 2013

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

著者: Meusburger, Edgar, Mündlein, Axel, Zitt, Emanuel, Obermayer-Pietsch, Barbara, Kotzot, Dieter, Lhotta, Karl
出版年 Clin Kidney J (2013)

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

著者: Frühmesser, Anne, Blake, Jonathon, Haberlandt, Edda, Baying, Bianka, Raeder, Benjamin, Runz, Heiko, Spreiz, Ana, Fauth, Christine, Benes, Vladimir, Utermann, Gerd, Zschocke, Johannes, Kotzot, Dieter
出版事項 2013

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

著者: Schweigmann, Ulrich, Biliczki, Peter, Ramirez, Rafael J., Marschall, Christoph, Takac, Ina, Brandes, Ralf P., Kotzot, Dieter, Girmatsion, Zenawit, Hohnloser, Stefan H., Ehrlich, Joachim R.
出版事項 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

著者: 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
出版事項 1992

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

著者: 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
出版年 Sci Rep (2016)

Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome

著者: 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
出版事項 2012

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

著者: 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
出版事項 2013

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

著者: 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.
出版年 Am J Hum Genet (2017)

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

著者: 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
出版年 Eur J Hum Genet (2020)

Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

著者: 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. 
出版事項 2007