Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics von Dafinger, Claudia, Liebau, Max Christoph, Elsayed, Solaf Mohamed, Hellenbroich, Yorck, Boltshauser, Eugen, Korenke, Georg Christoph, Fabretti, Francesca, Janecke, Andreas Robert, Ebermann, Inga, Nürnberg, Gudrun, Nürnberg, Peter, Zentgraf, Hanswalter, Koerber, Friederike, Addicks, Klaus, Elsobky, Ezzat, Benzing, Thomas, Schermer, Bernhard, Bolz, Hanno Jörn

Volltext

Genetic mapping and exome sequencing identify variants associated with five novel diseases von Puffenberger, Erik G, Jinks, Robert N, Sougnez, Carrie, Cibulskis, Kristian, Willert, Rebecca A, Achilly, Nathan P, Cassidy, Ryan P, Fiorentini, Christopher J, Heiken, Kory F, Lawrence, Johnny J, Mahoney, Molly H, Miller, Christopher J, Nair, Devika T, Politi, Kristin A, Worcester, Kimberly N, Setton, Roni A, Dipiazza, Rosa, Sherman, Eric A, Eastman, James T, Francklyn, Christopher, Robey-Bond, Susan, Rider, Nicholas L, Gabriel, Stacey, Morton, D Holmes, Strauss, Kevin A

Volltext

Filaggrin Genotype in Ichthyosis Vulgaris Predicts Abnormalities in Epidermal Structure and Function von Gruber, Robert, Elias, Peter M, Crumrine, Debra, Lin, Tzu-Kai, Brandner, Johanna M, Hachem, Jean-Pierre, Presland, Richard B, Fleckman, Philip, Janecke, Andreas R, Sandilands, Aileen, McLean, W.H. Irwin, Fritsch, Peter O, Mildner, Michael, Tschachler, Erwin, Schmuth, Matthias

Volltext

Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy von Kopajtich, Robert, Murayama, Kei, Janecke, Andreas R., Haack, Tobias B., Breuer, Maximilian, Knisely, A.S., Harting, Inga, Ohashi, Toya, Okazaki, Yasushi, Watanabe, Daisaku, Tokuzawa, Yoshimi, Kotzaeridou, Urania, Kölker, Stefan, Sauer, Sven, Carl, Matthias, Straub, Simon, Entenmann, Andreas, Gizewski, Elke, Feichtinger, René G., Mayr, Johannes A., Lackner, Karoline, Strom, Tim M., Meitinger, Thomas, Müller, Thomas, Ohtake, Akira, Hoffmann, Georg F., Prokisch, Holger, Staufner, Christian

Volltext

Serum Bile Acids in Repaired Tetralogy of Fallot: A Marker for Liver and Heart? von Grangl, Gernot, Zöhrer, Evelyn, Köstenberger, Martin, Jud, Alexandra, Fauler, Günter, Scharnagl, Hubert, Stojakovic, Tatjana, Marterer, Robert, Gamillscheg, Andreas, Jahnel, Jörg

Volltext

Loss of Dermatan-4-Sulfotransferase 1 Function Results in Adducted Thumb-Clubfoot Syndrome von Dündar, Munis, Müller, Thomas, Zhang, Qi, Pan, Jing, Steinmann, Beat, Vodopiutz, Julia, Gruber, Robert, Sonoda, Tohru, Krabichler, Birgit, Utermann, Gerd, Baenziger, Jacques U., Zhang, Lijuan, Janecke, Andreas R.

Volltext

Inherited ichthyoses/generalized Mendelian disorders of cornification von Schmuth, Matthias, Martinz, Verena, Janecke, Andreas R, Fauth, Christine, Schossig, Anna, Zschocke, Johannes, Gruber, Robert

Volltext

Autosomal Recessive Keratoderma-Ichthyosis-Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction and Collagen Modification von Gruber, Robert, Rogerson, Clare, Windpassinger, Christian, Banushi, Blerida, Straatman-Iwanowska, Anna, Hanley, Joanna, Forneris, Federico, Strohal, Robert, Ulz, Peter, Crumrine, Debra, Menon, Gopinathan K., Blunder, Stefan, Schmuth, Matthias, Müller, Thomas, Smith, Holly, Mills, Kevin, Kroisel, Peter, Janecke, Andreas R., Gissen, Paul

Volltext

TMEM237 Is Mutated in Individuals with a Joubert Syndrome Related Disorder and Expands the Role of the TMEM Family at the Ciliary Transition Zone von Huang, Lijia, Szymanska, Katarzyna, Jensen, Victor L., Janecke, Andreas R., Innes, A. Micheil, Davis, Erica E., Frosk, Patrick, Li, Chunmei, Willer, Jason R., Chodirker, Bernard N., Greenberg, Cheryl R., McLeod, D. Ross, Bernier, Francois P., Chudley, Albert E., Müller, Thomas, Shboul, Mohammad, Logan, Clare V., Loucks, Catrina M., Beaulieu, Chandree L., Bowie, Rachel V., Bell, Sandra M., Adkins, Jonathan, Zuniga, Freddi I., Ross, Kevin D., Wang, Jian, Ban, Matthew R., Becker, Christian, Nürnberg, Peter, Douglas, Stuart, Craft, Cheryl M., Akimenko, Marie-Andree, Hegele, Robert A., Ober, Carole, Utermann, Gerd, Bolz, Hanno J., Bulman, Dennis E., Katsanis, Nicholas, Blacque, Oliver E., Doherty, Dan, Parboosingh, Jillian S., Leroux, Michel R., Johnson, Colin A., Boycott, Kym M.

Volltext

Genetic analyses of heme oxygenase 1 (HMOX1) in different forms of pancreatitis von Weis, Sebastian, Jesinghaus, Moritz, Kovacs, Peter, Schleinitz, Dorit, Schober, Robert, Ruffert, Claudia, Herms, Max, Wittenburg, Henning, Stumvoll, Michael, Blüher, Matthias, Grützmann, Robert, Schulz, Hans-Ulrich, Keim, Volker, Mössner, Joachim, Bugert, Peter, Witt, Heiko, Drenth, Joost P H, Krohn, Knut, Rosendahl, Jonas

Volltext

Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema von Sandilands, Aileen, Terron-Kwiatkowski, Ana, Hull, Peter R, O'Regan, Gráinne M, Clayton, Timothy H, Watson, Rosemarie M, Carrick, Thomas, Evans, Alan T, Liao, Haihui, Zhao, Yiwei, Campbell, Linda E, Schmuth, Matthias, Gruber, Robert, Janecke, Andreas R, Elias, Peter M, van Steensel, Maurice A M, Nagtzaam, Ivo, van Geel, Michel, Steijlen, Peter M, Munro, Colin S, Bradley, Daniel G, Palmer, Colin N A, Smith, Frances J D, McLean, W H Irwin, Irvine, Alan D

Volltext

Variants in CPA1 are strongly associated with early onset chronic pancreatitis von Witt, Heiko, Beer, Sebastian, Rosendahl, Jonas, Chen, Jian-Min, Chandak, Giriraj Ratan, Masamune, Atsushi, Bence, Melinda, Szmola, Richárd, Oracz, Grzegorz, Macek, Milan, Bhatia, Eesh, Steigenberger, Sandra, Lasher, Denise, Bühler, Florence, Delaporte, Catherine, Tebbing, Johanna, Ludwig, Maren, Pilsak, Claudia, Saum, Karolin, Bugert, Peter, Masson, Emmanuelle, Paliwal, Sumit, Bhaskar, Seema, Sobczynska-Tomaszewska, Agnieszka, Bak, Daniel, Balascak, Ivan, Choudhuri, Gourdas, Reddy, D Nageshwar, Rao, G Venkat, Thomas, Varghese, Kume, Kiyoshi, Nakano, Eriko, Kakuta, Yoichi, Shimosegawa, Tooru, Durko, Lukasz, Szabó, András, Schnúr, Andrea, Hegyi, Péter, Rakonczay, Zoltán, Pfützer, Roland, Schneider, Alexander, Groneberg, David Alexander, Braun, Markus, Schmidt, Hartmut, Witt, Ulrike, Friess, Helmut, Algül, Hana, Landt, Olfert, Schuelke, Markus, Krüger, Renate, Wiedenmann, Bertram, Schmidt, Frank, Zimmer, Klaus-Peter, Kovacs, Peter, Stumvoll, Michael, Blüher, Matthias, Müller, Thomas, Janecke, Andreas, Teich, Niels, Grützmann, Robert, Schulz, Hans-Ulrich, Mössner, Joachim, Keim, Volker, Löhr, Matthias, Férec, Claude, Sahin-Tóth, Miklós

Volltext

Evidence for genetic modifiers other than filaggrin mutations in X-linked ichthyosis von Gruber, Robert, Janecke, Andreas R, Grabher, Daniela, Sandilands, Aileen, Fauth, Christine, Schmuth, Matthias

Volltext

The Phenotype of Early-Onset Retinal Degeneration in Persons with RDH12 Mutations von Schuster, Andreas, Janecke, Andreas R, Wilke, Robert, Schmid, Eduard, Thompson, Debra A, Utermann, Gerd, Wissinger, Bernd, Zrenner, Eberhart, Gal, Andreas

Volltext

CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology von Oppermann, Henry, Marcos-Grañeda, Elia, Weiss, Linnea A, Gurnett, Christina A, Jelsig, Anne Marie, Vineke, Susanne H, Isidor, Bertrand, Mercier, Sandra, Magnussen, Kari, Zacher, Pia, Hashim, Mona, Pagnamenta, Alistair T, Race, Simone, Srivastava, Siddharth, Frazier, Zoë, Maiwald, Robert, Pergande, Matthias, Milani, Donatella, Rinelli, Martina, Levy, Jonathan, Krey, Ilona, Fontana, Paolo, Lonardo, Fortunato, Riley, Stephanie, Kretzer, Jasmine, Rankin, Julia, Reis, Linda M, Semina, Elena V, Reuter, Miriam S, Scherer, Stephen W, Iascone, Maria, Weis, Denisa, Fagerberg, Christina R, Brasch-Andersen, Charlotte, Hansen, Lars Kjaersgaard, Kuechler, Alma, Noble, Nathan, Gardham, Alice, Tenney, Jessica, Rathore, Geetanjali, Beck-Woedl, Stefanie, Haack, Tobias B, Pavlidou, Despoina C, Atallah, Isis, Vodopiutz, Julia, Janecke, Andreas R, Hsieh, Tzung-Chien, Lesmann, Hellen, Klinkhammer, Hannah, Krawitz, Peter M, Lemke, Johannes R, Jamra, Rami Abou, Nieto, Marta, Tümer, Zeynep, Platzer, Konrad

Volltext

Filaggrin mutations p.R501X and c.2282del4 in ichthyosis vulgaris von Gruber, Robert, Janecke, Andreas R, Fauth, Christine, Utermann, Gerd, Fritsch, Peter O, Schmuth, Matthias

Volltext

Missense variants in the TRPMr7 α-kinase domain are associated with recurrent pediatric acute liver failure von Schlieben, Lea D., Achleitner, Melanie T., Bourke, Billy, Diesner, Max, Feichtinger, René G., Fichtner, Alexander, Flechtenmacher, Christa, Hadzic, Nedim, Hegarty, Robert, Heilos, Andreas, Janecke, Andreas, Konstantopoulou, Vassiliki, Lenz, Dominic, Mayr, Johannes A., Müller, Thomas, Prokisch, Holger, Vogel, Georg F.

Volltext

Missense variants in the TRPM7 α-kinase domain are associated with recurrent pediatric acute liver failure von Schlieben, Lea D, Achleitner, Melanie T, Bourke, Billy, Diesner, Max, Feichtinger, René G, Fichtner, Alexander, Flechtenmacher, Christa, Hadzic, Nedim, Hegarty, Robert, Heilos, Andreas, Janecke, Andreas, Konstantopoulou, Vassiliki, Lenz, Dominic, Mayr, Johannes A, Müller, Thomas, Prokisch, Holger, Vogel, Georg F

Volltext

Lower prevalence of common filaggrin mutations in a community sample of atopic eczema: is disease severity important? von Gruber, Robert, Janecke, Andreas R., Grabher, Daniela, Horak, Elisabeth, Schmuth, Matthias, Lercher, Peter

Volltext

TMEM237 Is Mutated in Individuals with a Joubert Syndrome Related Disorder and Expands the Role of the TMEM Family at the Ciliary Transition von Huang, Lijia, Szymanska, Katarzyna, Jensen, Victor L, Janecke, Andreas R, Innes, A Micheil, Davis, Erica E, Frosk, Patrick, Li, Chunmei, Willer, Jason R, Chodirker, Bernard N, Greenberg, Cheryl R, McLeod, D Ross, Bernier, Francois P, Chudley, Albert E, Müller, Thomas, Shboul, Mohammad, Logan, Clare V, Loucks, Catrina M, Beaulieu, Chandree L, Bowie, Rachel V, Bell, Sandra M, Adkins, Jonathan, Zuniga, Freddi I, Ross, Kevin D, Wang, Jian, Ban, Matthew R, Becker, Christian, Nürnberg, Peter, Douglas, Stuart, Craft, Cheryl M, Akimenko, Marie-Andree, Hegele, Robert A, Ober, Carole, Utermann, Gerd, Bolz, Hanno J, Bulman, Dennis E, Katsanis, Nicholas, Blacque, Oliver E, Doherty, Dan, Parboosingh, Jillian S, Leroux, Michel R, Johnson, Colin A, Boycott, Kym M

Volltext