Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome
Schulz, AL, Albrecht, B, Arici, C, Van Der Burgt, I, Buske, A, Gillessen-Kaesbach, G, Heller, R, Horn, D, Hübner, CA, Korenke, GC, König, R, Kress, W, Krüger, G, Meinecke, P, Mücke, J, Plecko, B, Rossier, E, Schinzel, A, Schulze, A, Seemanova, E, Seidel, H, Spranger, S, Tuysuz, B, Uhrig, S, Wieczorek, D, Kutsche, K, Zenker, M
Published in Clinical genetics (01.01.2008)
Published in Clinical genetics (01.01.2008)
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First HPSE2 missense mutation in urofacial syndrome
Mahmood, S, Beetz, C, Tahir, MM, Imran, M, Mumtaz, R, Bassmann, I, Jahic, A, Malik, M, Nürnberg, G, Hassan, SAA, Rana, S, Nürnberg, P, Hübner, CA
Published in Clinical genetics (01.01.2012)
Published in Clinical genetics (01.01.2012)
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A de novo gain-of-function mutation in SCN11A causes loss of pain perception
Leipold, Enrico, Liebmann, Lutz, Korenke, G Christoph, Heinrich, Theresa, Giesselmann, Sebastian, Baets, Jonathan, Ebbinghaus, Matthias, Goral, R Oliver, Stödberg, Tommy, Hennings, J Christopher, Bergmann, Markus, Altmüller, Janine, Thiele, Holger, Wetzel, Andrea, Nürnberg, Peter, Timmerman, Vincent, De Jonghe, Peter, Blum, Robert, Schaible, Hans-Georg, Weis, Joachim, Heinemann, Stefan H, Hübner, Christian A, Kurth, Ingo
Published in Nature genetics (01.11.2013)
Published in Nature genetics (01.11.2013)
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Journal Article
Mutations in CRLF1 cause familial achalasia
Busch, A., Žarković, M., Lowe, C., Jankofsky, M., Ganschow, R., Buers, I., Kurth, I., Reutter, H., Rutsch, F., Hübner, C.A.
Published in Clinical genetics (01.07.2017)
Published in Clinical genetics (01.07.2017)
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Journal Article
Early expression of KCC2 in rat hippocampal cultures augments expression of functional GABA synapses
Chudotvorova, Ilona, Ivanov, Anton, Rama, Sylvain, Hübner, Christian A., Pellegrino, Christophe, Ben‐Ari, Yehezkel, Medina, Igor
Published in The Journal of physiology (01.08.2005)
Published in The Journal of physiology (01.08.2005)
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Journal Article
Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy
McHenry, Christina L, Hübner, Christian A, Gal, Andreas, Thompson, Debra A, Wissinger, Bernd, Rüschendorf, Franz, Heckenlively, John, Schmid, Eduard, Utermann, Gerd, Janecke, Andreas R, Nair, Anita R, Nürnberg, Peter, Becker, Christian
Published in Nature genetics (01.08.2004)
Published in Nature genetics (01.08.2004)
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Journal Article
Mice with a Targeted Disruption of the Cl−/HCO3− Exchanger AE3 Display a Reduced Seizure Threshold
Hentschke, Moritz, Wiemann, Martin, Hentschke, Suna, Kurth, Ingo, Hermans-Borgmeyer, Irm, Seidenbecher, Thomas, Jentsch, Thomas J, Gal, Andreas, Hübner, Christian A
Published in Molecular and Cellular Biology (01.01.2006)
Published in Molecular and Cellular Biology (01.01.2006)
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Journal Article
Loss of K-Cl co-transporter KCC3 causes deafness, neurodegeneration and reduced seizure threshold
Jentsch, Thomas J, Boettger, Thomas, Rust, Marco B, Maier, Hannes, Seidenbecher, Thomas, Schweizer, Michaela, Keating, Damien J, Faulhaber, Jörg, Ehmke, Heimo, Pfeffer, Carsten, Scheel, Olaf, Lemcke, Beate, Horst, Jürgen, Leuwer, Rudolf, Pape, Hans-Christian, Völkl, Harald, Hübner, Christian A
Published in The EMBO journal (15.10.2003)
Published in The EMBO journal (15.10.2003)
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Journal Article
Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle
Thompson, Debra A., Janecke, Andreas R., Lange, Jessica, Feathers, Kecia L., Hübner, Christian A., McHenry, Christina L., Stockton, David W., Rammesmayer, Gabriele, Lupski, James R., Antinolo, Guillermo, Ayuso, Carmen, Baiget, Montserrat, Gouras, Peter, Heckenlively, John R., den Hollander, Anneke, Jacobson, Samuel G., Lewis, Richard A., Sieving, Paul A., Wissinger, Bernd, Yzer, Suzanne, Zrenner, Eberhart, Utermann, Gerd, Gal, Andreas
Published in Human molecular genetics (15.12.2005)
Published in Human molecular genetics (15.12.2005)
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Journal Article
Deafness and renal tubular acidosis in mice lacking the K-Cl co-transporter Kcc4
Jentsch, Thomas J, Boettger, Thomas, Hübner, Christian A, Maier, Hannes, Rust, Marco B, Beck, Franz X
Published in Nature (London) (25.04.2002)
Published in Nature (London) (25.04.2002)
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Journal Article
The forkhead transcription factor Foxi1 directly activates the AE4 promoter
Kurth, Ingo, Hentschke, Moritz, Hentschke, Suna, Borgmeyer, Uwe, Gal, Andreas, Hübner, Christian A
Published in Biochemical journal (01.01.2006)
Published in Biochemical journal (01.01.2006)
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Journal Article
Neurogenic Mechanisms Contribute to Hypertension in Mice With Disruption of the K-Cl Cotransporter KCC3
Rust, Marco B, Faulhaber, Jörg, Budack, Mareike K, Pfeffer, Carsten, Maritzen, Tanja, Didié, Michael, Beck, Franz-Xaver, Boettger, Thomas, Schubert, Rudolf, Ehmke, Heimo, Jentsch, Thomas J, Hübner, Christian A
Published in Circulation research (03.03.2006)
Published in Circulation research (03.03.2006)
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Journal Article
Plasmodium Induces Swelling-activated ClC-2 Anion Channels in the Host Erythrocyte
Huber, Stephan M, Duranton, Christophe, Henke, Guido, Van De Sand, Claudia, Heussler, Volker, Shumilina, Ekaterina, Sandu, Ciprian D, Tanneur, Valerie, Brand, Verena, Kasinathan, Ravi S, Lang, Karl S, Kremsner, Peter G, Hübner, Christian A, Rust, Marco B, Dedek, Karin, Jentsch, Thomas J, Lang, Florian
Published in The Journal of biological chemistry (01.10.2004)
Published in The Journal of biological chemistry (01.10.2004)
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Journal Article
Expression of the sodium-driven chloride bicarbonate exchanger NCBE during prenatal mouse development
Hübner, C.A., Hentschke, M., Jacobs, S., Hermans-Borgmeyer, I.
Published in Gene Expression Patterns (01.12.2004)
Published in Gene Expression Patterns (01.12.2004)
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