Not logged in CDKL1 variants affecting ciliary formation predispose to thoracic aortic aneurysm and dissection Nauth, Theresa; Philipp, Melanie; Renner, Sina; Burkhalter, Martin D.; Schuler, Helke; Saygi, Ceren; Handler, Kristian; Siebels, Bente; Busch, Alice; Mair, Thomas; Rickassel, Verena; Deden, Sophia; Hoffer, Konstantin; Olfe, Jakob; Mir, Thomas S.; von Kodolitsch, Yskert; Girdauskas, Evaldas; Rybczynski, Meike; Kriegs, Malte; Voss, Hannah; Sauvigny, Thomas; Spielmann, Malte; Alawi, Malik; Krasemann, Susanne; Kubisch, Christian; Demal, Till J.; Rosenberger, Georg Share Save
Thoracic aortic diseases: Identification of diagnostic biomarkers using proteomic analysis Arndt, Nico; Mair, Thomas; Riedner, Maria; Biabani, Ali; Voss, Hannah; Schluter, Hartmut; Forster, Lukas; Knochenhauer, Tim; Sachse, Marco; Beyer, Martin; Leonhardt, Maya; von Kodolitsch, Yskert; Schlein, Christian; Sauter, Guido; Nauth, Theresa; Naito, Shiho; Girdauskas, Evaldas; Reichenspurner, Hermann; Detter, Christian; Rosenberger, Georg; Demal, Till Joscha Share Save
Cutaneous manifestations in Costello syndrome: HRAS p.Gly12Ser affects RIN1-mediated integrin trafficking in immortalized epidermal keratinocytes Nauth, Theresa; Bazgir, Farhad; Voss, Hannah; Brandenstein, Laura, I; Mosaddeghzadeh, Niloufar; Rickassel, Verena; Deden, Sophia; Gorzelanny, Christian; Schlueter, Hartmut; Ahmadian, Mohammad R.; Rosenberger, Georg Share Save
The focal adhesion protein β-parvin controls cardiomyocyte shape and sarcomere assembly in response to mechanical load Thievessen, Ingo; Suhr, Frank; Vergarajauregui, Silvia; Bottcher, Ralph T.; Brixius, Klara; Rosenberger, Georg; Dewald, Oliver; Fleischmann, Bernd K.; Ghanem, Alexander; Kruger, Marcus; Engel, Felix B.; Fabry, Ben; Bloch, Wilhelm; Fassler, Reinhard Share Save
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Expanding the clinical spectrum of COL2A1 related disorders by a mass like phenotype Demal, Till Joscha; Scholz, Tasja; Schueler, Helke; Olfe, Jakob; Froehlich, Anja; Speth, Fabian; von Kodolitsch, Yskert; Mir, Thomas S.; Reichenspurner, Hermann; Kubisch, Christian; Hempel, Maja; Rosenberger, Georg Share Save
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Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients Renner, Sina; Schueler, Helke; Alawi, Malik; Kolbe, Verena; Rybczynski, Meike; Woitschach, Rixa; Sheikhzadeh, Sara; Stark, Veronika C.; Olfe, Jakob; Roser, Elke; Seggewies, Friederike Sophia; Mahlmann, Adrian; Hempel, Maja; Hartmann, Melanie J.; Hillebrand, Mathias; Wieczorek, Dagmar; Volk, Alexander Erich; Kloth, Katja; Koch-Hogrebe, Margarete; Abou Jamra, Rami; Mitter, Diana; Altmueller, Janine; Wey-Fabrizius, Alexandra; Petersen, Christine; Rau, Isabella; Borck, Guntram; Kubisch, Christian; Mir, Thomas S.; von Kodolitsch, Yskert; Kutsche, Kerstin; Rosenberger, Georg Share Save
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Dysregulation of Rho GTPases in the αPix/Arhgef6 mouse model of X-linked intellectual disability is paralleled by impaired structural and synaptic plasticity and cognitive deficits Ramakers, Ger J. A.; Wolfer, David; Rosenberger, Georg; Kuchenbecker, Kerstin; Kreienkamp, Hans-Juergen; Prange-Kiel, Janine; Rune, Gabriele; Richter, Karin; Langnaese, Kristina; Masneuf, Sophie; Boesl, Michael R.; Fischer, Klaus-Dieter; Krugers, Harm J.; Lipp, Hans-Peter; van Galen, Elly; Kutsche, Kerstin Share Save
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes Endele, Sabine; Rosenberger, Georg; Geider, Kirsten; Popp, Bernt; Tamer, Ceyhun; Stefanova, Irina; Milh, Mathieu; Kortuem, Fanny; Fritsch, Angela; Pientka, Friederike K.; Hellenbroich, Yorck; Kalscheuer, Vera M.; Kohlhase, Juergen; Moog, Ute; Rappold, Gudrun; Rauch, Anita; Ropers, Hans-Hilger; von Spiczak, Sarah; Toennies, Holger; Villeneuve, Nathalie; Villard, Laurent; Zabel, Bernhard; Zenker, Martin; Laube, Bodo; Reis, Andre; Wieczorek, Dagmar; Van Maldergem, Lionel; Kutsche, Kerstin Share Save
WDR11, a WD Protein that Interacts with Transcription Factor EMX1, Is Mutated in Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome Kim, Hyung-Goo; Ahn, Jang-Won; Kurth, Ingo; Ullmann, Reinhard; Kim, Hyun-Taek; Kulharya, Anita; Ha, Kyung-Soo; Itokawa, Yasuhide; Meliciani, Irene; Wenzel, Wolfgang; Lee, Deresa; Rosenberger, Georg; Ozata, Metin; Bick, David P.; Sherins, Richard J.; Nagase, Takahiro; Tekin, Mustafa; Kim, Soo-Hyun; Kim, Cheol-Hee; Ropers, Hans-Hilger; Gusella, James F.; Kalscheuer, Vera; Choi, Cheol Yong; Layman, Lawrence C. Share Save
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Mutations in CHD7, Encoding a Chromatin-Remodeling Protein, Cause Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome Kim, Hyung-Goo; Kurth, Ingo; Lan, Fei; Meliciani, Irene; Wenzel, Wolfgang; Eom, Soo Hyun; Kang, Gil Bu; Rosenberger, Georg; Tekin, Mustafa; Ozata, Metin; Bick, David P.; Sherins, Richard J.; Walker, Steven L.; Shi, Yang; Gusella, James F.; Layman, Lawrence C. Share Save
Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome Wimplinger, Isabella; Morleo, Manuela; Rosenberger, Georg; Iaconis, Daniela; Orth, Ulrike; Meinecke, Peter; Lerer, Israela; Ballabio, Andrea; Gal, Andreas; Franco, Brunella; Kutsche, Kerstin Share Save
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