Intronic ITGA3 Mutation Impacts Splicing Regulation and Causes Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa von He, Yinghong, Balasubramanian, Meena, Humphreys, Nigel, Waruiru, Catherine, Brauner, Martin, Kohlhase, Juergen, O'Reilly, Ruth, Has, Cristina

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Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome von Ansari, Morad, Rainger, Jacqueline, Hanson, Isabel M, Williamson, Kathleen A, Sharkey, Freddie, Harewood, Louise, Sandilands, Angela, Clayton-Smith, Jill, Dollfus, Helene, Bitoun, Pierre, Meire, Francoise, Fantes, Judy, Franco, Brunella, Lorenz, Birgit, Taylor, David S, Stewart, Fiona, Willoughby, Colin E, McEntagart, Meriel, Khaw, Peng Tee, Clericuzio, Carol, Van Maldergem, Lionel, Williams, Denise, Newbury-Ecob, Ruth, Traboulsi, Elias I, Silva, Eduardo D, Madlom, Mukhlis M, Goudie, David R, Fleck, Brian W, Wieczorek, Dagmar, Kohlhase, Juergen, McTrusty, Alice D, Gardiner, Carol, Yale, Christopher, Moore, Anthony T, Russell-Eggitt, Isabelle, Islam, Lily, Lees, Melissa, Beales, Philip L, Tuft, Stephen J, Solano, Juan B, Splitt, Miranda, Hertz, Jens Michael, Prescott, Trine E, Shears, Deborah J, Nischal, Ken K, Doco-Fenzy, Martine, Prieur, Fabienne, Temple, I Karen, Lachlan, Katherine L, Damante, Giuseppe, Morrison, Danny A, van Heyningen, Veronica, FitzPatrick, David R

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Child Neurology: PRRT2-associated movement disorders and differential diagnoses von Ebrahimi-Fakhari, Darius, Kang, Keun-Sun, Kotzaeridou, Urania, Kohlhase, Juergen, Klein, Christine, Assmann, Birgit E

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Stüve–Wiedemann syndrome in a neonate von Sarafidis, Kosmas, Piretzi, Kaliopi, Agakidou, Eleni, Kohlhase, Jürgen, Zafeiriou, Dimitrios

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Brittle Cornea Syndrome: Case Report with Novel Mutation in the PRDM5 Gene and Review of the Literature von Heindl, Ludwig M., Kohlhase, Juergen, Bachmann, Bjoern, Siebelmann, Sebastian, Avgitidou, Georgia, Cursiefen, Claus

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Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes von Endele, Sabine, Rosenberger, Georg, Geider, Kirsten, Popp, Bernt, Tamer, Ceyhun, Stefanova, Irina, Milh, Mathieu, Kortum, Fanny, Fritsch, Angela, Pientka, Friederike K, Hellenbroich, Yorck, Kalscheuer, Vera M, Kohlhase, Jurgen, Moog, Ute, Rappold, Gudrun, Rauch, Anita, Ropers, Hans-Hilger, von Spiczak, Sarah, Tonnies, Holger, Villeneuve, Nathalie, Villard, Laurent, Zabel, Bernhard, Zenker, Martin, Laube, Bodo, Reis, Andre, Wieczorek, Dagmar, Van Maldergem, Lionel, Kutsche, Kerstin

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A novel large FERMT1 ( KIND1 ) gene deletion in Kindler syndrome von Has, Cristina, Yordanova, Ivelina, Balabanova, Maria, Kazandjieva, Jana, Herz, Corinna, Kohlhase, Jürgen, Bruckner-Tuderman, Leena

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Cancer incidence and spectrum among children with genetically confirmed Beckwith-Wiedemann spectrum in Germany: a retrospective cohort study von Cöktü, Sümeyye, Spix, Claudia, Kaiser, Melanie, Beygo, Jasmin, Kleinle, Stephanie, Bachmann, Nadine, Kohlschmidt, Nicolai, Prawitt, Dirk, Beckmann, Alf, Klaes, Ruediger, Nevinny-Stickel-Hinzpeter, Claudia, Döhnert, Steffi, Kraus, Cornelia, Kadgien, Gundula, Vater, Inga, Biskup, Saskia, Kutsche, Michael, Kohlhase, Jürgen, Eggermann, Thomas, Zenker, Martin, Kratz, Christian P.

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Next-generation sequencing in X-linked intellectual disability von Tzschach, Andreas, Grasshoff, Ute, Beck-Woedl, Stefanie, Dufke, Claudia, Bauer, Claudia, Kehrer, Martin, Evers, Christina, Moog, Ute, Oehl-Jaschkowitz, Barbara, Di Donato, Nataliya, Maiwald, Robert, Jung, Christine, Kuechler, Alma, Schulz, Solveig, Meinecke, Peter, Spranger, Stephanie, Kohlhase, Jürgen, Seidel, Jörg, Reif, Silke, Rieger, Manuela, Riess, Angelika, Sturm, Marc, Bickmann, Julia, Schroeder, Christopher, Dufke, Andreas, Riess, Olaf, Bauer, Peter

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CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance von Schulz, Yvonne, Wehner, Peter, Opitz, Lennart, Salinas-Riester, Gabriela, Bongers, Ernie M. H. F., van Ravenswaaij-Arts, Conny M. A., Wincent, Josephine, Schoumans, Jacqueline, Kohlhase, Jürgen, Borchers, Annette, Pauli, Silke

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Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia von Minnerop, Martina, Kurzwelly, Delia, Wagner, Holger, Soehn, Anne S, Reichbauer, Jennifer, Tao, Feifei, Rattay, Tim W, Peitz, Michael, Rehbach, Kristina, Giorgetti, Alejandro, Pyle, Angela, Thiele, Holger, Altmüller, Janine, Timmann, Dagmar, Karaca, Ilker, Lennarz, Martina, Baets, Jonathan, Hengel, Holger, Synofzik, Matthis, Atasu, Burcu, Feely, Shawna, Kennerson, Marina, Stendel, Claudia, Lindig, Tobias, Gonzalez, Michael A, Stirnberg, Rüdiger, Sturm, Marc, Roeske, Sandra, Jung, Johanna, Bauer, Peter, Lohmann, Ebba, Herms, Stefan, Heilmann-Heimbach, Stefanie, Nicholson, Garth, Mahanjah, Muhammad, Sharkia, Rajech, Carloni, Paolo, Brüstle, Oliver, Klopstock, Thomas, Mathews, Katherine D, Shy, Michael E, de Jonghe, Peter, Chinnery, Patrick F, Horvath, Rita, Kohlhase, Jürgen, Schmitt, Ina, Wolf, Michael, Greschus, Susanne, Amunts, Katrin, Maier, Wolfgang, Schöls, Ludger, Nürnberg, Peter, Zuchner, Stephan, Klockgether, Thomas, Ramirez, Alfredo, Schüle, Rebecca

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Identification of a Novel Point Mutation in the LEMD3 Gene in an Infant With Buschke-Ollendorff Syndrome von Kratzsch, Johanna, Mitter, Diana, Ziemer, Mirjana, Kohlhase, Jürgen, Voth, Harald

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Kindler syndrome: Extension of FERMT1 mutational spectrum and natural history von Has, Cristina, Castiglia, Daniele, del Rio, Marcela, Garcia Diez, Marta, Piccinni, Eugenia, Kiritsi, Dimitra, Kohlhase, Jürgen, Itin, Peter, Martin, Ludovic, Fischer, Judith, Zambruno, Giovanna, Bruckner‐Tuderman, Leena

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Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly von Lines, Matthew A., Huang, Lijia, Schwartzentruber, Jeremy, Douglas, Stuart L., Lynch, Danielle C., Beaulieu, Chandree, Guion-Almeida, Maria Leine, Zechi-Ceide, Roseli Maria, Gener, Blanca, Gillessen-Kaesbach, Gabriele, Nava, Caroline, Baujat, Geneviève, Horn, Denise, Kini, Usha, Caliebe, Almuth, Alanay, Yasemin, Utine, Gulen Eda, Lev, Dorit, Kohlhase, Jürgen, Grix, Arthur W., Lohmann, Dietmar R., Hehr, Ute, Böhm, Detlef, Majewski, Jacek, Bulman, Dennis E., Wieczorek, Dagmar, Boycott, Kym M.

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Large Deletions Targeting the Triple-Helical Domain of Collagen VII Lead to Mild Acral Dominant Dystrophic Epidermolysis Bullosa von Chmel, Nadja, Bornert, Olivier, Hausser, Ingrid, Grüninger, Gabriele, Borozkin, Wiktor, Kohlhase, Jürgen, Nyström, Alexander, Has, Cristina

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Truncated SALL1 Impedes Primary Cilia Function in Townes-Brocks Syndrome von Bozal-Basterra, Laura, Martín-Ruíz, Itziar, Pirone, Lucia, Liang, Yinwen, Sigurðsson, Jón Otti, Gonzalez-Santamarta, Maria, Giordano, Immacolata, Gabicagogeascoa, Estibaliz, de Luca, Angela, Rodríguez, Jose A., Wilkie, Andrew O.M., Kohlhase, Jürgen, Eastwood, Deborah, Yale, Christopher, Olsen, Jesper V., Rauchman, Michael, Anderson, Kathryn V., Sutherland, James D., Barrio, Rosa

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A Deep-Intronic FERMT1 Mutation Causes Kindler Syndrome: An Explanation for Genetically Unsolved Cases von Chmel, Nadja, Danescu, Sorina, Gruler, Amelie, Kiritsi, Dimitra, Bruckner-Tuderman, Leena, Kreuter, Alexander, Kohlhase, Jürgen, Has, Cristina

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DICER1 syndrome can mimic different genetic tumor predispositions von Mehraein, Yasmin, Schmid, Irene, Eggert, Marlene, Kohlhase, Jürgen, Steinlein, Ortrud K

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Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa von Kiritsi, Dimitra, Kern, Johannes S, Schumann, Hauke, Kohlhase, Jürgen, Has, Cristina, Bruckner-Tuderman, Leena

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The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype von Hamilton, Alexander J, Bingham, Coralie, McDonald, Timothy J, Cook, Paul R, Caswell, Richard C, Weedon, Michael N, Oram, Richard A, Shields, Beverley M, Shepherd, Maggie, Inward, Carol D, Hamilton-Shield, Julian P, Kohlhase, Jürgen, Ellard, Sian, Hattersley, Andrew T

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