Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum
- Creator: Thorwarth, Anne , Schnittert-Hüebener, Sarah , Ebert, Grit , Steininger, Anne , Böennemann, Carsten , Brockmann, Knut , Christen, Hans-Jürgen , Crock, Patricia , deZegher, Francis , Griese, Matthias , Hewitt, Jacqueline , Ivarsson, Sten , Schrumpf, Pamela , Hüebner, Christoph , Kapelari, Klaus , Plecko, Barbara , Rating, Dietz , Stoeva, Iva , Ropers, Hans-Hilger , Grüeters, Annette , Ullmann, Reinhard , Krude, Heiko , Müeller, Ines , Jyrch, Sabine , Dame, Christof , Biebermann, Heike , Kleinau, Gunnar , Katchanov, Juri , Schuelke, Markus
- Resource Type: journal article
- Date: 2014
Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1
- Creator: Jensen, Lars R. , Chen, Wei , van Esch, Hilde , Chelly, Jamel , de Brouwer , Arjan P. M. , Hackett, Anna , van der Haar , Sigrun , Henn, Wolfram , Gecz, Jozef , Riess, Olaf , Bonin, Michael , Reinhardt, Richard , Moser, Bettina , Ropers, Hans-Hilger , Kuss, Andreas W. , Lipkowitz, Bettina , Schroeder, Christopher , Musante, Luciana , Tzschach, Andreas , Kalscheuer, Vera M. , Meloni, Ilaria , Raynaud, Martine
- Resource Type: journal article
- Date: 2011
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation
- Creator: Froyen, Guy , Corbett, Mark , Chelly, Jamel , Sanlaville, Damien , van Bokhoven, Hans , Ropers, Hans-Hilger , Laumonnier, Frederic , Ranieri, Enzo , Schwartz, Charles E. , Abidi, Fatima , Tarpey, Patrick S. , Futreal, P. Andrew , Vandewalle, Joke , Whibley, Annabel , Raymond, F. Lucy , Stratton, Michael R. , Fryns, Jean-Pierre , Scott, Rodney , Peippo, Maarit , Sipponen, Marjatta , Partington, Michael , Mowat, David , Field, Michael , Jarvela, Irma , Hackett, Anna , Marynen, Peter , Turner, Gillian , Gécz, Jozef , Lawrence, Owen , Meldrum, Cliff , Bauters, Marijke , Govaerts, Karen , Vandeleur, Lucianne , Van Esch, Hilde
- Resource Type: journal article
- Date: 2008