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| MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression. |
| Authors: Frints, Suzanna Gerarda Maria; Lenzner, Steffen; Bauters, Mareike; Jensen, Lars Riff; Van Esch, Hilde; des Portes, Vincent; Moog, Ute; Macville, Merryn Victor Erik; van Roozendaal, Kees; Schrander-Stumpel, Constance Theresia Rimbertha Maria; Tzschach, Andreas; Marynen, Peter; Fryns, Jean-Pierre; Hame, Ben; van Bokhoven, Hans; Chelly, Jamel; Beldjord, Chérif; Turner, Gillian; Gecz, Jozef; Moraine, Claude; Raynaud, Martine; Ropers, Hans Hilger; Froyen, Guy; Kuss, Andreas Walter | | Date of Publication (YYYY-MM-DD): 2008-04-09 | | Title of Journal: European Journal of Human Genetics | | Volume: 16 | | Issue / Number: 9 | | Start Page: 1029 | | End Page: 1037 | | Document Type: Article | | ID: 407419.0 |
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| Submicroscopic duplications of th hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation |
| Authors: Froyen, Guy; Corbett, Mark; Vandewalle, Joke; Jarvela, Irma; Lawrence, Owen; Meldrum, Cliff; Bauters, Marijke; Govaerts, Karen; Vandeleur, Lucianne; Van Esch, Hilde; 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; Whibley, Annabel; Raymond, F. Lucy; Stratton, Michael R.; Fryns, Jean-Pierre; Scott, Rodney; Peippo, Maarit; Sipponen, Marjatta; Partington, Michael; Mowat, David; Field, Michael; Hackett, Anna; Marynen, Peter; Turner, Gillian; Gécz, Jozef | | Date of Publication (YYYY-MM-DD): 2008-01-24 | | Title of Journal: The American Journal of Human Genetics, | | Volume: 82 | | Issue / Number: 2 | | Start Page: 432 | | End Page: 443 | | Document Type: Article | | ID: 408288.0 |
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| Telomere-independent homologue pairing and checkpoint escape of accessory ring chromosomes in male mouse meiosis |
| Authors: Voet, Thierry; Liebe, Bodo; Labaere, Charlotte; Marynen, Peter; Scherthan, Harry | | Date of Publication (YYYY-MM-DD): 2003-09-01 | | Title of Journal: Journal of Cell Biology | | Volume: 162 | | Issue / Number: 5 | | Start Page: 795 | | End Page: 807 | | Document Type: Article | | ID: 173642.0 |
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| Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: Clinical study and mutation analysis of the NXF5 gene |
| Authors: Frints, Suzanna G. M.; Jun, Lin; Fryns, Jean-Pierre; Devriendt, Koen; Teulingkx, Rudi; Van den Berghe, Lut; De Vos, Bernice; Borghgraef, Martine; Chelly, Jamel; Des Portes, Vincent; Van Bokhoven, Hans; Hamel, Ben; Ropers, Hans-Hilger; Kalscheuer, Vera; Raynaud, Martine; Moraine, Claude; Marynen, Peter; Froyen, Guy | | Date of Publication (YYYY-MM-DD): 2003-06-15 | | Title of Journal: American Journal of Medical Genetics Part A | | Volume: 119A | | Issue / Number: 3 | | Start Page: 367 | | End Page: 374 | | Document Type: Article | | ID: 126783.0 |
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