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Mutation screening of brain-expressed X-chromosomal miRNA genes in 464 patients with nonsyndromic X-linked mental retardation
Authors: Chen, Wei; Jensen, Lars R; Gecz, Jozef; Fryns, Jean-Pierre; Moraine, Claude; de Brouwer, Arjan; Chelly, Jamel; Moser, Bettina; Ropers, Hans-Hilger; Kuss, Andreas W.
Date of Publication (YYYY-MM-DD): 2007-03-01
Title of Journal: European Journal of Human Genetics : EJHG ; the Official Journal of the European Society of Human Genetics
Volume: 15
Issue / Number: 3
Start Page: 375
End Page: 378
Document Type: Article
ID: 333773.0
 
Full text / Content available
Mutation screening of brain-expressed X-chromosomal miRNA genes in 464 patients with nonsyndromic X-linked mental retardation
Authors: Chen, Wei; Jensen, Lars R; Gecz, Jozef; Fryns, Jean-Pierre; Moraine, Claude; de Brouwer, Arjan; Chelly, Jamel; Moser, Bettina; Ropers, Hans-Hilger; Kuss, Andreas W.
Date of Publication (YYYY-MM-DD): 2007-03-01
Title of Journal: European Journal of Human Genetics : EJHG ; the Official Journal of the European Society of Human Genetics
Volume: 15
Issue / Number: 3
Start Page: 375
End Page: 378
Document Type: Article
ID: 337307.0
 
Full text / Content available
Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations
Authors: So, Joyce; Suckow, Vanessa; Kijas, Zofia; Kalscheuer, Vera; Moser, Bettina; Winter, Jennifer; Baars, Marieke; Firth, Helen; Lunt, Peter; Hamel, Ben; Meinecke, Peter; Moraine, Claude; Odent, Sylvie; Schinzel, Albert; van der Smagt, J.J.; Devriendt, Koen; Albrecht, Beate; Gillessen-Kaesbach, Gabriele; van der Burgt, Ineke; Petrij, Fred; Faivre, Laurence; McGaughran, Julie; McKenzie, Fiona; Opitz, John M.; Cox, Timothy; Schweiger, Susann
Date of Publication (YYYY-MM-DD): 2006-11-19
Title of Journal: American Journal of Medical Genetics Part A
Volume: 132A
Issue / Number: 1
Start Page: 1
End Page: 7
Document Type: Article
ID: 305422.0
 
Full text / Content available
Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations
Authors: So, Joyce; Suckow, Vanessa; Kijas, Zofia; Kalscheuer, Vera; Moser, Bettina; Winter, Jennifer; Baars, Marieke; Firth, Helen; Lunt, Peter; Hamel, Ben; Meinecke, Peter; Moraine, Claude; Odent, Sylvie; Schinzel, Albert; van der Smagt, J.J.; Devriendt, Koen; Albrecht, Beate; Gillessen-Kaesbach, Gabriele; van der Burgt, Ineke; Petrij, Fred; Faivre, Laurence; McGaughran, Julie; McKenzie, Fiona; Opitz, John M.; Cox, Timothy; Schweiger, Susann
Date of Publication (YYYY-MM-DD): 2006-11-19
Title of Journal: American Journal of Medical Genetics Part A
Volume: 132A
Issue / Number: 1
Start Page: 1
End Page: 7
Document Type: Article
ID: 305426.0
 
Full text / Content available
Novel JARID1C/SMCX mutations in patients with X-linked mental retardation
Authors: Tzschach, Andreas; Lenzner, Steffen; Moser, Bettina; Reinhardt, Richard; Chelly, Jamel; Fryns, Jean-Pierre; Kleefstra, Tjitske; Raynaud, Martine; Turner, Gillian; Ropers, Hans-Hilger; Kuss, Andreas; Jensen, Lars Riff
Date of Publication (YYYY-MM-DD): 2006-03-15
Title of Journal: Human Mutation
Volume: 27
Issue / Number: 4
Start Page: 389
End Page: 389
Document Type: Article
ID: 305408.0
 
Full text / Content available
Novel JARID1C/SMCX mutations in patients with X-linked mental retardation
Authors: Tzschach, Andreas; Lenzner, Steffen; Moser, Bettina; Reinhardt, Richard; Chelly, Jamel; Fryns, Jean-Pierre; Kleefstra, Tjitske; Raynaud, Martine; Turner, Gillian; Ropers, Hans-Hilger; Kuss, Andreas; Jensen, Lars Riff
Date of Publication (YYYY-MM-DD): 2006-03-15
Title of Journal: Human Mutation
Volume: 27
Issue / Number: 4
Start Page: 389
End Page: 389
Document Type: Article
ID: 305410.0
 
Full text / Content available
: Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation
Authors: Jensen, Lars Riff; Amende, Marion; Gurok, Ulf; Moser, Bettina; Gimme, Verena; Tzschach, Andreas; Janecke, Andreas R.; Tariverdian, Gholamali; Chelly, Jamel; Fryns, Jean-Pierre; Van Esch, Hilde; Kleefstra, Tjitske; Hame, Ben; Moraine, Claude; Gécz, Jozef; Turner, Gillian; Reinhardt, Richard; Kalscheuer, Vera M.; Ropers, Hans-Hilger; Lenzner, Steffen
Date of Publication (YYYY-MM-DD): 2005-01-01
Title of Journal: American Journal of Human Genetics
Volume: 76
Issue / Number: 2
Start Page: 227
End Page: 236
Document Type: Article
ID: 271219.0
 
Full text / Content available
Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations
Authors: So, Joyce; Suckow, Vanessa; Kijas, Zofia; Kalscheuer, Vera M.; Moser, Bettina; Winter, Jennifer; Baars, Marieke; Firth, Helen; Lunt, Peter; Hamel, Ben; Meinecke, Peter; Moraine, Claude; Odent, Sylvie; Schinzel, Albert; van der Smagt, J.J.; Devriendt, Koen; Albrecht, Beate; Gillessen-Kaesbach, Gabriele; van der Burgt, Ineke; Petrij, Fred; Faivre, Laurence; McGaughran, Julie; McKenzie, Fiona; Opitz, John M.; Cox, Timothy; Schweiger, Susann
Date of Publication (YYYY-MM-DD): 2005-01-01
Title of Journal: American Journal of Medical Genetics : Part A
Volume: 132
Issue / Number: 1
Start Page: 1
End Page: 7
Document Type: Article
ID: 271957.0
 
Full text / Content available
Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations
Authors: So, Joyce; Suckow, Vanessa; Kijas, Zofia; Kalscheuer, Vera M.; Moser, Bettina; Winter, Jennifer; Baars, Marieke; Firth, Helen; Lunt, Peter; Hamel, Ben; Meinecke, Peter; Moraine, Claude; Odent, Sylvie; Schinzel, Albert; van der Smagt, J.J.; Devriendt, Koen; Albrecht, Beate; Gillessen-Kaesbach, Gabriele; van der Burgt, Ineke; Petrij, Fred; Faivre, Laurence; McGaughran, Julie; McKenzie, Fiona; Opitz, John M.; Cox, Timothy; Schweiger, Susann
Date of Publication (YYYY-MM-DD): 2005-01-01
Title of Journal: American Journal of Medical Genetics : Part A
Volume: 132
Issue / Number: 1
Start Page: 1
End Page: 7
Document Type: Article
ID: 273072.0
 
Full text / Content available
: Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation
Authors: Jensen, Lars Riff; Amende, Marion; Gurok, Ulf; Moser, Bettina; Gimme, Verena; Tzschach, Andreas; Janecke, Andreas R.; Tariverdian, Gholamali; Chelly, Jamel; Fryns, Jean-Pierre; Van Esch, Hilde; Kleefstra, Tjitske; Hame, Ben; Moraine, Claude; Gécz, Jozef; Turner, Gillian; Reinhardt, Richard; Kalscheuer, Vera M.; Ropers, Hans-Hilger; Lenzner, Steffen
Date of Publication (YYYY-MM-DD): 2005-01-01
Title of Journal: American Journal of Human Genetics
Volume: 76
Issue / Number: 2
Start Page: 227
End Page: 236
Document Type: Article
ID: 273074.0
 
Full text / Content available
Entries: 1-10  
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