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, 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
Published in Nature genetics (01.11.2010)
Published in Nature genetics (01.11.2010)
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FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum
Reuter, Miriam S, Riess, Angelika, Moog, Ute, Briggs, Tracy A, Chandler, Kate E, Rauch, Anita, Stampfer, Miriam, Steindl, Katharina, Gläser, Dieter, Joset, Pascal, Krumbiegel, Mandy, Rabe, Harald, Schulte-Mattler, Uta, Bauer, Peter, Beck-Wödl, Stefanie, Kohlhase, Jürgen, Reis, André, Zweier, Christiane
Published in Journal of medical genetics (01.01.2017)
Published in Journal of medical genetics (01.01.2017)
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Kindler syndrome: Extension of FERMT1 mutational spectrum and natural history
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
Published in Human mutation (01.11.2011)
Published in Human mutation (01.11.2011)
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Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly
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.
Published in American journal of human genetics (10.02.2012)
Published in American journal of human genetics (10.02.2012)
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CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance
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
Published in Human genetics (01.08.2014)
Published in Human genetics (01.08.2014)
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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
Franke, Gerlind, Bausch, Birke, Hoffmann, Michael M, Cybulla, Markus, Wilhelm, Christian, Kohlhase, Jürgen, Scherer, Gerd, Neumann, Hartmut P.H
Published in Human mutation (01.05.2009)
Published in Human mutation (01.05.2009)
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Okihiro syndrome is caused by SALL4 mutations
Kohlhase, Jürgen, Heinrich, Marielle, Schubert, Lucia, Liebers, Manuela, Kispert, Andreas, Laccone, Franco, Turnpenny, Peter, Winter, Robin M., Reardon, William
Published in Human molecular genetics (01.11.2002)
Published in Human molecular genetics (01.11.2002)
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Failure of ossification of the occipital bone in mandibuloacral dysplasia type B
Haye, Damien, Dridi, Hend, Levy, Jonathan, Lambert, Véronique, Lambert, Maurice, Agha, Mohamed, Adjimi, Frédéric, Kohlhase, Jürgen, Lipsker, Dan, Verloes, Alain
Published in American journal of medical genetics. Part A (01.10.2016)
Published in American journal of medical genetics. Part A (01.10.2016)
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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
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
Published in Human molecular genetics (15.09.2012)
Published in Human molecular genetics (15.09.2012)
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Sall1, Sall2, and Sall4 Are Required for Neural Tube Closure in Mice
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
Published in The American journal of pathology (01.11.2008)
Published in The American journal of pathology (01.11.2008)
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Expression of a truncated Sall1 transcriptional repressor is responsible for Townes–Brocks syndrome birth defects
Kiefer, Susan McLeskey, Ohlemiller, Kevin K., Yang, Jing, McDill, Bradley W., Kohlhase, Jürgen, Rauchman, Michael
Published in Human molecular genetics (01.09.2003)
Published in Human molecular genetics (01.09.2003)
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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
Borozdin, Wiktor, Graham Jr, John M., Böhm, Detlef, Bamshad, Michael J., Spranger, Stefanie, Burke, Leah, Leipoldt, Michael, Kohlhase, Jürgen
Published in Human mutation (01.08.2007)
Published in Human mutation (01.08.2007)
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Five patients with novel overlapping interstitial deletions in 8q22.2q22.3
Kuechler, Alma, Buysse, Karen, Clayton-Smith, Jill, Le Caignec, Cédric, David, Albert, Engels, Hartmut, Kohlhase, Jürgen, Mari, Francesca, Mortier, Geert, Renieri, Alessandra, Wieczorek, Dagmar
Published in American journal of medical genetics. Part A (01.08.2011)
Published in American journal of medical genetics. Part A (01.08.2011)
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Array CGH in molecular diagnosis of mental retardation-A study of 150 Finnish patients
Siggberg, Linda, Ala-Mello, Sirpa, Jaakkola, Elisa, Kuusinen, Esa, Schuit, Robert, Kohlhase, Jürgen, Böhm, Detlef, Ignatius, Jaakko, Knuutila, Sakari
Published in American journal of medical genetics. Part A (01.06.2010)
Published in American journal of medical genetics. Part A (01.06.2010)
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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
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
Published in Nature genetics (01.03.2008)
Published in Nature genetics (01.03.2008)
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Functional analysis of the novel TBX5 c.1333delC mutation resulting in an extended TBX5 protein
Böhm, Johann, Heinritz, Wolfram, Craig, Alexander, Vujic, Mihailo, Ekman-Joelsson, Britt-Marie, Kohlhase, Jürgen, Froster, Ursula
Published in BMC medical genetics (01.10.2008)
Published in BMC medical genetics (01.10.2008)
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Hoffman syndrome: New patients, new insights
Hügle, Boris, Hoffman, Hal, Bird, Lynne M., Gebauer, Corinna, Suchowerskyj, Philipp, Sack, Ulrich, Kohlhase, Jürgen, Schuster, Volker
Published in American journal of medical genetics. Part A (01.01.2011)
Published in American journal of medical genetics. Part A (01.01.2011)
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Genotype-phenotype correlation in eight new patients with a deletion encompassing 2q31.1
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
Published in American journal of medical genetics. Part A (01.05.2010)
Published in American journal of medical genetics. Part A (01.05.2010)
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