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

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

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

ανά Meusburger, Edgar, Mündlein, Axel, Zitt, Emanuel, Obermayer-Pietsch, Barbara, Kotzot, Dieter, Lhotta, Karl
Τόπος έκδοσης Clin Kidney J (2013)

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

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

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

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

ανά 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
Έκδοση 1992

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

ανά 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
Τόπος έκδοσης Sci Rep (2016)

Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome

ανά 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
Έκδοση 2012

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

ανά 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
Έκδοση 2013

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

ανά 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.
Τόπος έκδοσης Am J Hum Genet (2017)

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

ανά 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
Τόπος έκδοσης Eur J Hum Genet (2020)

Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

ανά 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. 
Έκδοση 2007