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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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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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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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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Okihiro syndrome is caused by SALL4 mutations von Kohlhase, Jürgen, Heinrich, Marielle, Schubert, Lucia, Liebers, Manuela, Kispert, Andreas, Laccone, Franco, Turnpenny, Peter, Winter, Robin M., Reardon, William

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Alu-Alu recombination underlies the vast majority of large VHL germline deletions: Molecular characterization and genotype-phenotype correlations in VHL patients von Franke, Gerlind, Bausch, Birke, Hoffmann, Michael M, Cybulla, Markus, Wilhelm, Christian, Kohlhase, Jürgen, Scherer, Gerd, Neumann, Hartmut P.H

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Failure of ossification of the occipital bone in mandibuloacral dysplasia type B von Haye, Damien, Dridi, Hend, Levy, Jonathan, Lambert, Véronique, Lambert, Maurice, Agha, Mohamed, Adjimi, Frédéric, Kohlhase, Jürgen, Lipsker, Dan, Verloes, Alain

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Miller (Genée―Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH von RAINGER, Joe, BENGANI, Hemant, MERCER, Catherine, MCKENZIE, Kathryn, LENGFELD, Tobias, QUEROKL, Blanca Gener, BRANNEY, Peter, MCKAY, Stewart, MORRISON, Harris, MEDINA, Bethan, ROBERTSON, Morag, KOHLHASE, Jurgen, CAMPBELL, Leigh, GORDON, Colin, KIRK, Jean, WIECZOREK, Dagmar, FITZPATRICK, David R, ANDERSON, Eve, SOKHI, Kishan, LAM, Wayne, RIESS, Angelika, ANSARI, Morad, SMITHSON, Sarah, LEES, Melissa

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Monozygotic twins discordant for neurofibromatosis type 1 due to a postzygotic NF1 gene mutation von Vogt, Julia, Kohlhase, Jürgen, Morlot, Susanne, Kluwe, Lan, Mautner, Victor-Felix, Cooper, David N., Kehrer-Sawatzki, Hildegard

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Sall1, Sall2, and Sall4 Are Required for Neural Tube Closure in Mice von Böhm, Johann, Buck, Anja, Borozdin, Wiktor, Mannan, Ashraf U, Matysiak-Scholze, Uta, Adham, Ibrahim, Schulz-Schaeffer, Walter, Floss, Thomas, Wurst, Wolfgang, Kohlhase, Jürgen, Barrionuevo, Francisco

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Expression of a truncated Sall1 transcriptional repressor is responsible for Townes–Brocks syndrome birth defects von Kiefer, Susan McLeskey, Ohlemiller, Kevin K., Yang, Jing, McDill, Bradley W., Kohlhase, Jürgen, Rauchman, Michael

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Five patients with novel overlapping interstitial deletions in 8q22.2q22.3 von Kuechler, Alma, Buysse, Karen, Clayton-Smith, Jill, Le Caignec, Cédric, David, Albert, Engels, Hartmut, Kohlhase, Jürgen, Mari, Francesca, Mortier, Geert, Renieri, Alessandra, Wieczorek, Dagmar

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Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations von Kohlhase, Jürgen, Unger, Sheila, Böhm, Detlef, Kaiser, Frank J, Kaulfuß, Silke, Borozdin, Wiktor, Buiting, Karin, Burfeind, Peter, Böhm, Johann, Barrionuevo, Francisco, Craig, Alexander, Borowski, Kristi, Keppler-Noreuil, Kim, Schmitt-Mechelke, Thomas, Steiner, Bernhard, Bartholdi, Deborah, Lemke, Johannes, Mortier, Geert, Sandford, Richard, Zabel, Bernhard, Superti-Furga, Andrea

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Multigene deletions on chromosome 20q13.13-q13.2 including SALL4 result in an expanded phenotype of Okihiro syndrome plus developmental delay von Borozdin, Wiktor, Graham Jr, John M., Böhm, Detlef, Bamshad, Michael J., Spranger, Stefanie, Burke, Leah, Leipoldt, Michael, Kohlhase, Jürgen

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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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Array CGH in molecular diagnosis of mental retardation-A study of 150 Finnish patients von Siggberg, Linda, Ala-Mello, Sirpa, Jaakkola, Elisa, Kuusinen, Esa, Schuit, Robert, Kohlhase, Jürgen, Böhm, Detlef, Ignatius, Jaakko, Knuutila, Sakari

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Hoffman syndrome: New patients, new insights von Hügle, Boris, Hoffman, Hal, Bird, Lynne M., Gebauer, Corinna, Suchowerskyj, Philipp, Sack, Ulrich, Kohlhase, Jürgen, Schuster, Volker

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Genotype-phenotype correlation in eight new patients with a deletion encompassing 2q31.1 von Mitter, Diana, Chiaie, Barbara Delle, Lüdecke, Hermann-Josef, Gillessen-Kaesbach, Gabriele, Bohring, Axel, Kohlhase, Jürgen, Caliebe, Almuth, Siebert, Reiner, Roepke, Albrecht, Ramos-Arroyo, Maria A., Nieva, Beatriz, Menten, Björn, Loeys, Bart, Mortier, Geert, Wieczorek, Dagmar

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Functional analysis of the novel TBX5 c.1333delC mutation resulting in an extended TBX5 protein von Böhm, Johann, Heinritz, Wolfram, Craig, Alexander, Vujic, Mihailo, Ekman-Joelsson, Britt-Marie, Kohlhase, Jürgen, Froster, Ursula

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