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Entries: 1-10  
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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
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly.
Authors: Giannandrea, Maila; Bianchi, Veronica; Mignogna, Maria Lidia; Sirri, Alessandra; Carrabino, Salvatore; D'Elia, Errico; Vecellio, Matteo; Russo, Silvia; Cogliati, Francesca; Larizza, Lidia; Ropers, Hans-Hilger; Tzschach, Andreas; Kalscheuer, Vera M.; Oehl-Jaschkowitz, Barbara; Schwartz, Charles E.; Gecz, Jozef; Van Esch, Hilde; Raynaud, Martine; Chelly, Jamel; de Brouwer, Arjan P.M.; Toniolo, Daniela; D'Adamo, Patrizia
Date of Publication (YYYY-MM-DD): 2010-02-12
Title of Journal: The American Journal of Human Genetics
Volume: 86
Issue / Number: 2
Start Page: 185
End Page: 195
Document Type: Article
ID: 532611.0
 
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A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C
Authors: Jensen, Lars R.; Bartenschlager, Heinz; Rujirabanjerd, Sinitdhorn; Tzschach, Andreas; Nümann, Astrid; Janecke, Andreas R.; Spörle, Ralf; Stricker, Sigmar; Raynaud, Martine; Nelson, John; Hackett, Anna; Fryns, Jean-Pierre; Chelly, Jamel; de Brouwer, Arjan P. M.; Hamel, Ben; Gecz, Jozef; Ropers, Hans-Hilger; Kuss, Andreas W.
Date of Publication (YYYY-MM-DD): 2010-02-02
Title of Journal: Pathogenetics
Volume: 3
Start Page: 2
End Page: 2
Document Type: Article
ID: 472557.0
A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylose KDM5C.
Authors: Jensen, Lars R.; Bartenschlager, Heinz; Rujirabanjerd, Sinitdhorn; Tzschach, Andreas; Nümann, Astrid; Janecke, Andreas R.; Spörle, Ralf; Stricker, Sigmar; Raynaud, Martine; Nelson, John; Hackett, Anna; Fryns, Jean-Pierre; Chelly, Jamel; de Brouwer, Arjan P. M.; Hamel, Ben; Gecz, Jozef; Ropers, Hans-Hilger; Kuss, Andreas W.
Date of Publication (YYYY-MM-DD): 2010-02-01
Title of Journal: Pathogenetics
Volume: 2
Issue / Number: 3
Start Page: 2
End Page: 2
Document Type: Article
ID: 533094.0
 
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A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
Authors: Tarpey, Patrick S.; Smith, Raffaella; Pleasance, Erin; Whibley, Annabel; Edkins, Sarah; Hardy, Claire; O'Meara, Sarah; Latimer, Calli; Dicks, Ed; Menzies, Andrew; Stephens, Phil; Blow, Matt; Greenman, Chris; Xue, Yali; Tyler-Smith, Chris; Thompson, Deborah; Gray, Kristian; Andrews, Jenny; Barthorpe, Syd; Buck, Gemma; Cole, Jennifer; Dunmore, Rebecca; Jones, David; Maddison, Mark; Mironenko, Tatiana; Turner, Rachel; Turrell, Kelly; Varian, Jennifer; West, Sofie; Widaa, Sara; Wray, Paul; Teague, Jon; Butler, Adam; Jenkinson, Andrew; Jia, Mingming; Richardson, David; Shepherd, Rebecca; Wooster, Richard; Jia, Mingming; Richardson, David; Shepherd, Rebecca; Wooster, Richard; Tejada, M. Isabel; Martinez, Francisco; Carvill, Gemma; Goliath, Rene; de Brouwer, Arjan P. M.; van Bokhoven, Hans; Van Esch, Hilde; Chelly, Jamel; Raynaud, Martine; Ropers, Hans-Hilger; Abidi, Fatima E.; Srivastava, Anand K.; Cox, James; Luo, Ying; Mallya, Uma; Moon, Jenny; Parnau, Josef; Mohammed, Shehla; Tolmie, John L.; Shoubridge, Cheryl; Corbett, Mark; Gardner, Alison; Haan, Eric; Rujirabanjerd, Sinitdhorn; Shaw, Marie; Vandeleur, Lucianne; Fullston, Tod; Easton, Douglas F.; Boyle, Jackie; Partington, Michael; Hackett, Anna; Field, Michael; Skinner, Cindy; Stevenson, Roger E.; Bobrow, Martin; Turner, Gillian; Schwartz, Charles E.; Gecz, Jozef; Raymond, F. Lucy; Futreal, P. Andrew; Stratton, Michael R.
Date of Publication (YYYY-MM-DD): 2009-05
Title of Journal: Narure Genetics
Volume: 41
Issue / Number: 5
Start Page: 535
End Page: 543
Document Type: Article
ID: 473606.0
Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy
Authors: Lugtenberg, Dorien; Kleefstra, Tjitske; Oudakker, Astrid R.; Nillesen, Willy M.; Yntema, Helger G.; Tzschach, Andreas; Raynaud, Martine; Rating, Dietz; Journel, Hubert; Chelly, Jamel; Goizet, Cyril; Lacombe, Didier; Pedespan, Jean-Michel; Echenne, Bernard; Tariverdian, Gholamali; O'Rourke, Declan; King, Mary D.; Green, Andrew; van Kogelenberg, Margriet; Van Esch, Hilde; Gecz, Jozef; Hamel, Ben C. J.; van Bokhoven, Hans; de Brouwer, Arjan P. M.
Date of Publication (YYYY-MM-DD): 2009-04
Title of Journal: European Journal of Human Genetics
Volume: 17
Issue / Number: 4
Start Page: 444
End Page: 453
Document Type: Article
ID: 473314.0
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
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
Heterotaxy and cardiac defect in a girl with chromosome translocation t(X;1)(q26;p13.1) and involvement of ZIC3
Authors: Tzschach, Andreas; Hoeltzenbein, Maria; Hoffmann, Kirsten; Menzel, Corinna; Beyer, Alexander; Ocker, Volker; Wurster, Goetz; Raynaud, Martine; Ropers, Hans-Hilger; Kalscheuer, Vear M.
Date of Publication (YYYY-MM-DD): 2006-08-23
Title of Journal: European Journal of Human Genetics : EJHG ; the Official Journal of the European Society of Human Genetics
Volume: 14
Issue / Number: 12
Start Page: 1317
End Page: 1320
Document Type: Article
ID: 308507.0
 
Full text / Content available
A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome
Authors: Budny, Bartlomiej; Chen, Wei; Omran, Heymut; Fliegauf, Manfred; Tzschach, Andreas; Wisniewska, Marzena; Jensen, Lars R.; Raynaud, Martine; Shoichet, Sarah A.; Badura, Magda; Lenzner, Steffen; Latos-Bielenska, Anna; Ropers, Hans-Hilger
Date of Publication (YYYY-MM-DD): 2006-06-17
Title of Journal: Human Genetics
Volume: 120
Issue / Number: 2
Start Page: 171
End Page: 178
Document Type: Article
ID: 307327.0
 
Full text / Content available
Entries: 1-10  
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