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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
 
Full text / Content available
Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3.
Authors: Kahrizi, Kimia; Hu, Cougar Hao; Garshasbi, Masoud; Abedini, Seyedeh Sedigheh; Ghadami, Shirin; Kariminejad, Roxana; Ullmann, Reinhard; Chen, Wei; Ropers, Hans-Hilger; Kuss, Andreas W.; Najmabadi, Hossein; Tzschach, Andreas
Date of Publication (YYYY-MM-DD): 2010-08-11
Title of Journal: European Journal of Human Genetics
Volume: 19
Start Page: 115
End Page: 117
Document Type: Article
ID: 533103.0
 
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Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene.
Authors: Walczak-Sztulpa, Joanna; Eggenschwiler, Jonathan; Osborn, Daniel; Brown, Desmond A.; Emma, Francesco; Klingenberg, Claus; Hennekam, Raoul C.; Torre, Giuliano; Garshasbi, Masoud; Tzschach, Andreas; Szczepanska, Malgorzata; Krawczynski, Marian; Zachwieja, Jacek; Zwolinska, Danuta; Beales, Philip L.; Ropers, Hans-Hilger; Latos-Bielenska, Anna; Kuss, Andreas W.
Date of Publication (YYYY-MM-DD): 2010-06-11
Title of Journal: American Journal of Human Genetics
Volume: 86
Issue / Number: 6
Start Page: 949
End Page: 956
Document Type: Article
ID: 536136.0
Establishment of a mouse model with misregulated chromosome condensation due to defective Mcph1 function.
Authors: Trimborn, Marc; Ghani, Mahdi; Walther, Diego J.; Dopatka, Monika; Dutrannoy, Véronique; Busche, Andreas; Meyer, Franziska; Nowak, Stefanie; Nowak, Jean N; Zabel, Claus; Klose, Joachim; Esquitino, Veronica; Garshasbi, Masoud; Kuss, Andreas W.; Ropers, Hans-Hilger; Mueller, Susanne; Poehlmann, Charlotte; Gavvovidis, Ioannis; Schindler, Detlev; Sperling, Karl; Neitzel, Heidemarie
Date of Publication (YYYY-MM-DD): 2010-02-16
Title of Journal: PLoS ONE
Volume: 5
Issue / Number: 2
Start Page: e9242.
End Page: e9242.
Document Type: Article
ID: 535983.0
 
Full text / Content available
CA8 Mutations Cause a Novel Syndrome Characterized by Ataxia and Mild Mental Retardation with Predisposition to Quadrupedal Gait
Authors: Türkmen, Seval; Guo, Gao; Garshasbi, Masoud; Hoffmann, Katrin; Alshalah, Amjad J.; Mischung, Claudia; Kuss, Andreas; Humphrey, Nicholas; Mundlos, Stefan; Robinson, Peter N.
Date of Publication (YYYY-MM-DD): 2009-05-22
Title of Journal: PLoS Genetics
Volume: 5
Start Page: e1000487
End Page: e1000487
Document Type: Article
ID: 473612.0
Identification of 31 genomic loci for autosomal recessive mental retardation and molecular genetic characterization of novel causative mutations in four genes.
Authors: Garshasbi, Masoud
Name of University: Freie Universität Berlin
Place of University: Berlin
Date of Approval (YYYY-MM-DD): 2009-05-18
Document Type: PhD-Thesis
ID: 472560.0
 
Full text / Content available
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
 
Full text / Content available
Alopecia-mental retardation syndrome: clinical and molecular characterization of four patients
Authors: Tzschach, Andreas; Bozorgmehr, B.; Hadavi, V.; Kahrizi, K.; Garshasbi, Masoud; Motazacker, M. M.; Ropers, Hans-Hilger; Kuss, Andreas; Najmabad, H.
Date of Publication (YYYY-MM-DD): 2008-07-04
Title of Journal: British Journal of Dermatology
Volume: 159
Issue / Number: 3
Start Page: 748
End Page: 751
Document Type: Article
ID: 411262.0
 
Full text / Content available
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
Entries: 1-10  
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