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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


Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci.
Authors: Najmabadi, Hossein; Motazacker, Mohammad Mahdi; Garshasbi, Masoud; Kahrizi, Kimia; Tzschach, Andreas; Chen, Wei; Behjati, Farkhondeh; Hadavi, Valeh; Nieh, Sahar Esmaeeli; Abedini, Seyedeh Sedigheh; Vazifehmand, Reza; Firouzabadi, Saghar Ghasemi; Jamali, Payman; Falah, Masoumeh; Seifati, Seyed Morteza; Grüters, Annette; Lenzner, Steffen; Jensen, Lars R.; Rüschendorf, Franz; Kuss, Andreas W.; Ropers, Hans-Hilger
Date of Publication (YYYY-MM-DD): 2007-03-01
Title of Journal: Human Genetics
Volume: 121
Issue / Number: 1
Start Page: 43
End Page: 48
Document Type: Article
ID: 334609.0


SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly
Authors: Garshasbi, Masoud; Motazacker, Mohammad Mahdi; Kahrizi, Kimia; Behjati, Farkhondeh; Abedini, Seyedeh Sedigheh; Nieh, Sahar Esmaeeli; Firouzabadi, Saghar Ghasemi; Becker, Christian; Rüschendorf, Franz; Nürnberg, Peter; Tzschach, Andreas; Vazifehmand, Reza; Erdogan, Fikret; Ullmann, Reinhard; Lenzner, Steffen; Kuss, Andreas W.; Ropers, Hans-Hilger; Najmabadi, Hossein
Date of Publication (YYYY-MM-DD): 2006-02-01
Title of Journal: Human Genetics
Volume: 118
Issue / Number: 6
Start Page: 708
End Page: 715
Document Type: Article
ID: 307622.0