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Entries: 1-10  
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Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 nvel loci and several mutation hotspots
Authors: Kuss, Andreas Walter; Garshasbi, Masoud; Kahrizi, Kimia; Tzschach, Andreas; Behjati, Farkhondeh; Darvish, Hossein; Abbasi-Moheb, Lia; Puettmann, Lucia; Zecha, Agnes; Weißmann, Robert; Hu, Hao; Mohseni, Marzieh; Abedini, Seyedeh Sedigheh; Rajab, Anna; Hertzberg, Christoph; Wieczorek, Dagmar; Ullmann, Reinhard; Saghar Ghasemi-Firouzabadi, Saghar; Banihashemi, Susan; Arzhangi, Sanaz; Hadavi, Valeh; Bahrami-Monajemi, Gholamreza; Kasiri, Mahboubeh; Falah, Masoumeh; Nikuei, Pooneh; Dehghan, Atefeh; Sobhani, Masoumeh; Jamali, Payman; Ropers, Hans-Hilger; Najmabadi, Hossein
Date of Publication (YYYY-MM-DD): 2010-11-09
Title of Journal: Human Genetics
Volume: 129
Issue / Number: 2
Start Page: 141
End Page: 148
Document Type: Article
ID: 533429.0
 
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Brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (OMIM 609945): case report and review of the literature.
Authors: Shafeghati, Yousef; Kahrizi, Kimia; Najmabadi, Hossein; Kuss, Andreas Walter; Ropers, Hans-Hilger; Tzschach, Andreas
Date of Publication (YYYY-MM-DD): 2010-07-26
Title of Journal: European Journal of Pediatrics
Volume: 169
Issue / Number: 12
Start Page: 1535
End Page: 1539
Document Type: Article
ID: 534123.0
 
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An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4
Authors: Kahrizi, Kimia; Najmabadi, Hossein; Kariminejad, Roxana; Jamali, Payman; Malekpour, Mahdi; Garshasbi, Masoud; Ropers, Hans-Hilger; Kuss, Andreas Walter; Tzschach, Andreas
Date of Publication (YYYY-MM-DD): 2009-01
Title of Journal: European Journal of Human Genetics
Volume: 17
Issue / Number: 1
Start Page: 125
End Page: 128
Document Type: Article
ID: 472564.0
Expanded mutational spectrum in Cohen Syndrome, tissue expression, and transcript variants of COH1
Authors: Seifert, Wenke; Holder-Espinasse, Muriel; Kühnisch, Jirko; Kahrizi, Kimia; Tzschach, Andreas; Garshasbi, Masoud; Najmabadi, Hossein; Kuss, Andreas Walter; Kress, Wolfram; Laureys, Geneviève; Loeys, Bart; Brilstra, Eva; Mancini, Grazia M.S.; Dollfus, Hélène; Dahan, Karin; Apse, Kira; Hennies, Hans Christian; Horn, Denise
Date of Publication (YYYY-MM-DD): 2008-11-12
Title of Journal: Human Mutation
Volume: 30
Issue / Number: 2
Start Page: E404
End Page: E420
Document Type: Article
ID: 411209.1
 
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A defect in the TUSC3 gene is associated with autosomal recessive mental retardation
Authors: Garshasbi, Masoud; Hadavi, Valeh; Habibi, Haleh; Kahrizi, Kimia; Kariminejad, Roxana; Behjati, Farkhondeh; Tzschach, Andreas; Najmabadi, Hossein; Ropers, Hans-Hilger; Kuss, Andreas Walter
Date of Publication (YYYY-MM-DD): 2008-05-01
Title of Journal: The American Journal of Human Genetics
Volume: 82
Issue / Number: 5
Start Page: 1158
End Page: 1164
Document Type: Article
ID: 408332.0
MicroRNAs in brain function and disease
Authors: Kuss, Andreas Walter; Chen, Wei
Date of Publication (YYYY-MM-DD): 2008-05
Title of Journal: Current Neurology and Neuroscience Reports
Volume: 8
Issue / Number: 3
Start Page: 190
End Page: 197
Document Type: Article
ID: 411002.0
 
Full text / Content available
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
Identification of nonsense mutation in the very low density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome
Authors: Moheb, Lia Abbasi; Tzschach, Andreas; Garshasbi, Masoud; Kahrizi, Kimia; Darvish, Hossein; Heshmati, Yaser; Kordi, Alireza; Najmabadi, Hossein; Ropers, Hans-Hilger; Kuss, Andreas Walter
Date of Publication (YYYY-MM-DD): 2008
Title of Journal: European Journal of Human Genetics
Volume: 16
Start Page: 270
End Page: 273
Document Type: Article
ID: 411038.0
A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation.
Authors: Motazacker, Mohammad Mahdi; Rost, Benjamin Rainer; Hucho, Tim; Garshasb, Masoud; Kahriz, Kimia; Ullmann, Reinhard; Abedini, Seyedeh Sedigheh; Nieh, Sahar Esmaeeli; Amini, Saeid Hosseini; Goswami, Chandan; Tzschach, Andreas; Jensen, Lars Riff; Schmitz, Dietmar; Ropers, Hans-Hilger; Najmabadi, Hossein; Kuss, Andreas Walter
Date of Publication (YYYY-MM-DD): 2007-10-01
Title of Journal: The American Journal of Human Genetics : AJHG
Volume: 81
Issue / Number: 4
Start Page: 792
End Page: 798
Document Type: Article
ID: 334559.0
X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11
Authors: Jensen, Lars Riff; Lenzner, Steffen; Mose, Bettina; Freude, Kristine; Tzschach, Andreas; Chen, Wei; Fryns, Jean-Pierre; Chelly, Jamel; Turner, Gillian; Moraine, Claude; Hamel, Ben; Ropers, Hans-Hilger; Kuss, Andreas walter
Date of Publication (YYYY-MM-DD): 2007-01-01
Title of Journal: European Journal of Human Genetics : EJHG ; the Official Journal of the European Society of Human Genetics
Volume: 15
Issue / Number: 1
Start Page: 68
End Page: 75
Document Type: Article
ID: 334088.0
 
Full text / Content available
Entries: 1-10  
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