A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation von Zemni, Ramzi, Bienvenu, Thierry, Vinet, Marie C., Sefiani, Aziz, Carrié, Alain, Billuart, Pierre, McDonell, Nathalie, Couvert, Philippe, Francis, Fiona, Chafey, Philippe, Fauchereau, Fabien, Friocourt, Gaelle, Portes, Vincent des, Cardona, Anna, Frints, Suzanna, Meindl, Alfonse, Brandau, Oliver, Ronce, Nathalie, Moraine, Claude, Bokhoven, Han van, Ropers, Hans H., Sudbrak, Ralf, Kahn, Axel, Fryns, Jean P, Beldjord, Cherif, Chelly, Jamel

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Prenatal ultrasound diagnosis of rhizomelic chondrodysplasia punctata in a primigravida von Sastrowijoto, Suprapto H., Vandenberghe, Kamiel, Moerman, Philippe, Lauweryns, Joseph M., Fryns, Jean-Pierre

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Prenatal diagnosis and long survival of Fryns syndrome von Fryns, Jean-Pierre

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Late-onset isolated cystic hygroma. A first clinical sign of proteus syndrome von Fryns, Jean-Pierre

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Prenatal diagnosis of fragile X syndrome by placental (chorionic villi) biopsy culture von McKinley, Mark J., Kearney, Lyndal U., Nicolaides, Kypros H., Gosden, Christine M., Webb, Tessa P., Fryns, Jean P.

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Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males von Van Esch, Hilde, Bauters, Marijke, Ignatius, Jaakko, Jansen, Mieke, Raynaud, Martine, Hollanders, Karen, Lugtenberg, Dorien, Bienvenu, Thierry, Jensen, Lars Riff, Gécz, Jozef, Moraine, Claude, Marynen, Peter, Fryns, Jean-Pierre, Froyen, Guy

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Mutations in the Transcription Factor Gene SOX18 Underlie Recessive and Dominant Forms of Hypotrichosis-Lymphedema-Telangiectasia von Irrthum, Alexandre, Devriendt, Koenraad, Chitayat, David, Matthijs, Gert, Glade, Conrad, Steijlen, Peter M., Fryns, Jean-Pierre, Van Steensel, Maurice A. M., Vikkula, Miikka

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Mutations in the JARID1C Gene, Which Is Involved in Transcriptional Regulation and Chromatin Remodeling, Cause X-Linked Mental Retardation von Jensen, Lars Riff, Amende, Marion, Gurok, Ulf, Moser, Bettina, Gimmel, Verena, Tzschach, Andreas, Janecke, Andreas R., Tariverdian, Gholamali, Chelly, Jamel, Fryns, Jean-Pierre, Van Esch, Hilde, Kleefstra, Tjitske, Hamel, Ben, Moraine, Claude, Gécz, Jozef, Turner, Gillian, Reinhardt, Richard, Kalscheuer, Vera M., Ropers, Hans-Hilger, Lenzner, Steffen

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Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome von Munroe, Patricia B., Olgunturk, Rana O., Fryns, Jean-Pierre, Maldergem, Lionel Van, Ziereisen, France, Yuksel, Bulend, Gardiner, R. Mark, Chung, Eddie

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X-Linked Mental Retardation and Autism Are Associated with a Mutation in the NLGN4 Gene, a Member of the Neuroligin Family von Laumonnier, Frédéric, Bonnet-Brilhault, Frédérique, Gomot, Marie, Blanc, Romuald, David, Albert, Moizard, Marie-Pierre, Raynaud, Martine, Ronce, Nathalie, Lemonnier, Eric, Calvas, Patrick, Laudier, Béatrice, Chelly, Jamel, Fryns, Jean-Pierre, Ropers, Hans-Hilger, Hamel, Ben C.J., Andres, Christian, Barthélémy, Catherine, Moraine, Claude, Briault, Sylvain

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GATA3 haplo-insufficiency causes human HDR syndrome von Van Esch, Hilde, Groenen, Peter, Nesbit, M. Andrew, Schuffenhauer, Simone, Lichtner, Peter, Vanderlinden, Gert, Harding, Brian, Beetz, Rolf, Bilous, Rudolf W., Holdaway, Ian, Shaw, Nicholas J., Fryns, Jean-Pierre, Van de Ven, Wim, Thakker, Rajesh V., Devriendt, Koenraad

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Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients von Thienpont, Bernard, Mertens, Luc, de Ravel, Thomy, Eyskens, Benedicte, Boshoff, Derize, Maas, Nicole, Fryns, Jean-Pierre, Gewillig, Marc, Vermeesch, Joris R., Devriendt, Koen

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Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia von Devriendt, Koenraad, Kim, Annette S., Mathijs, Gert, Frints, Suzanna G.M., Schwartz, Marianne, Van den Oord, Joost J., Verhoef, Gregor E.G., Boogaerts, Marc A., Fryns, Jean-Pierre, You, Daoqi, Rosen, Michael K., Vandenberghe, Peter

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Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 ( EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome von Kleefstra, Tjitske, Brunner, Han G., Amiel, Jeanne, Oudakker, Astrid R., Nillesen, Willy M., Magee, Alex, Geneviève, David, Cormier-Daire, Valérie, van Esch, Hilde, Fryns, Jean-Pierre, Hamel, Ben C.J., Sistermans, Erik A., de Vries, Bert B.A., van Bokhoven, Hans

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Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia von Agarwal, Anil K., Fryns, Jean-Pierre, Auchus, Richard J., Garg, Abhimanyu

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Diagnosis of miscarriages by molecular karyotyping: Benefits and pitfalls von Robberecht, Caroline, Schuddinck, Vicky, Fryns, Jean-Pierre, Vermeesch, Joris Robert

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Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation von Billuart, Pierre, Bienvenu, Thierry, Ronce, Nathalie, des Portes, Vincent, Vinet, Marie Claude, Zemni, Ramzi, Crollius, Hugues Roest, Carrié, Alain, Fauchereau, Fabien, Cherry, Michele, Briault, Sylvain, Hamel, Ben, Fryns, Jean-Pierre, Beldjord, Cherif, Kahn, Axel, Moraine, Claude, Chelly, Jamel

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What next for preimplantation genetic screening? High mitotic chromosome instability rate provides the biological basis for the low success rate von Vanneste, Evelyne, Voet, Thierry, Melotte, Cindy, Debrock, Sophie, Sermon, Karen, Staessen, Catherine, Liebaers, Inge, Fryns, Jean-Pierre, D'Hooghe, Thomas, Vermeesch, Joris R.

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High Prevalence of SLC6A8 Deficiency in X-Linked Mental Retardation von Rosenberg, Efraim H., Almeida, Ligia S., Kleefstra, Tjitske, deGrauw, Rose S., Yntema, Helger G., Bahi, Nadia, Moraine, Claude, Ropers, Hans-Hilger, Fryns, Jean-Pierre, deGrauw, Ton J., Jakobs, Cornelis, Salomons, Gajja S.

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FOXL2 and BPES: Mutational Hotspots, Phenotypic Variability, and Revision of the Genotype-Phenotype Correlation von De Baere, Elfride, Beysen, Diane, Oley, Christine, Lorenz, Birgit, Cocquet, Julie, De Sutter, Paul, Devriendt, Koen, Dixon, Michael, Fellous, Marc, Fryns, Jean-Pierre, Garza, Arturo, Jonsrud, Christoffer, Koivisto, Pasi A., Krause, Amanda, Leroy, Bart P., Meire, Françoise, Plomp, Astrid, Van Maldergem, Lionel, De Paepe, Anne, Veitia, Reiner, Messiaen, Ludwine

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