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Entries: 1-9  
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Erratum to: Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing.
Authors: Hu, Hao; Wrogemann, Klaus; Kalscheuer, Vera M.; Tzschach, Andreas; Richard, Hugues; Haas, Stefan A.; Menzel, Corinna; Bienek, Melanie; Froyen, Guy; Raynaud, Martine; Van Bokhoven, Hans; Chelly, Jamel; Ropers, Hans-Hilger; Chen, Wei
Date of Publication (YYYY-MM-DD): 2010-04-11
Title of Journal: The Hugo Journal
Volume: 3
Issue / Number: 1-4
Start Page: 83
End Page: 83
Document Type: Article
ID: 533090.0
 
Full text / Content available
Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation.
Authors: Lugtenberg, Dorien; Zangrande-Vieira, Luiz; Kirchhoff, Maria; Whibley, Annabel C.; Oudakker, Astrid R.; Kjaergaard, Susanne; Vianna-Morgante, Angela M.; Kleefstra, Tjitske; Ruiter, Mariken; Jehee, Fernanda S.; Ullmann, Reinhard; Schwartz, Charles E.; Stratton, Michael; Raymond, F. Lucy; Veltman, Joris A.; Vrijenhoek, Terry; Pfundt, Rolph; Schuurs-Hoeijmakers, Janneke H.M.; Hehir-Kwa, Jayne Y.; Froyen, Guy; Chelly, Jamel; Ropers, Hans-Hilger; Moraine, Claude; Gècz, Jozef; Knijnenburg, Jeroen; Kant, Sarina G.; Hamel, Ben C.J.; Rosenberg, Carla; van Bokhoven, Hans; de Brouwer, Arjan P.M.
Date of Publication (YYYY-MM-DD): 2010-02-10
Title of Journal: American Journal of Medical Genetics. Part A.
Volume: 152A
Issue / Number: 3
Start Page: 638
End Page: 645
Document Type: Article
ID: 533727.0
 
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Four unrelated patients with Lubs X-linked mental retardation syndrome and different Xq28 duplications.
Authors: Bartsch, Oliver; Gebauer, Konstanze; Lechno, Stanislav; van Esch, Hilde; Froyen, Guy; Bonin, Michael; Jörg Seidel, Jörg Seidel; Thamm-Mücke, Barbara; Horn, Denise; Klopock, Eva; Hertzberg, Christoph; Zechner, Ulrich; Haaf, Thomas
Date of Publication (YYYY-MM-DD): 2010-01-15
Title of Journal: American Journal of Medical Genetics Part A
Volume: 152A
Issue / Number: 2
Start Page: 305
End Page: 312,
Document Type: Article
ID: 536214.0
 
Full text / Content available
A new chromosome X Exon-specific microarray platform for screening of patients with X-linked disorders
Authors: Bashiardes, Stavros; Kousoulidou, Ludmila; van Bokhoven, Hans; Ropers, Hans-Hilger; Chelly, Jamel; Moraine, Claude; de Brouwer, Arjan P. M.; van Esch, Hilde; Froyen, Guy; Patsalis, Philippos C.
Date of Publication (YYYY-MM-DD): 2009-11
Title of Journal: Journal of Molecular Diagnostics
Volume: 11
Issue / Number: 6
Start Page: 562
End Page: 568
Document Type: Article
ID: 468992.0
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
 
Full text / Content available
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
 
Full text / Content available
Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH
Authors: Kousoulidou, Ludmila; Parkel, Sven; Zilina, Olga; Palta, Priit; Puusepp, Helen; Remm, Maido; Turner, Gillian; Boyle, Jackie; van Bokhoven, Hans; de Brouwer, Arjan; Van Esch, Hilde; Froyen, Guy; Ropers, Hans-Hilger; Chelly, Jamel; Moraine, Claude; Gecz, Jozef; Kurg, Ants; Patsalis, Philippos C.
Date of Publication (YYYY-MM-DD): 2007-09-27
Title of Journal: European Journal of Medical Genetics
Volume: 50
Issue / Number: 6
Start Page: 399
End Page: 410
Document Type: Article
ID: 410657.0
Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium
Authors: de Brouwer, Arjan P.M.; Yntema, Helger G.; Kleefstra, Tjitske; Lugtenberg, Dorien; Oudakker, Astrid R.; de Vries, Bert B. A.; van Bokhoven, Hans; van Esch, Hilde; Frints, Suzanne G. M.; Froyen, Guy; Fryns, Jean-Pierre; Raynaud, Martine; Moizard, Marie-Pierre; Ronce, Nathalie; Bensalem, Anissa; Moraine, Claude; Poirier, Karine; Castelnau, Laetitia; Saillour, Yoann; Bienvenu, Thierry; Beldjord, Chérif; des Portes, Vincent; Chelly, Jamel; Turner, Gillian; Fullston, Tod; Gecz, Jozef; Kuss, Andreas W.; Tzschach, Andreas; Jensen, Lars Riff; Lenzner, Steffen; Kalscheuer, Vera M.; Ropers, Hans-Hilger; Hamel, Ben C.J.
Date of Publication (YYYY-MM-DD): 2007-01-12
Title of Journal: Human Mutation
Volume: 28
Issue / Number: 2
Start Page: 207
End Page: 208
Document Type: Article
ID: 333783.0
 
Full text / Content available
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
Entries: 1-9  
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