Publikationen von Masoud Garshasbi

Türkmen, S.; Guo, G.; Garshasbi, M.; Hoffmann, K.; Alshalah, A. J.; Mischung, C.; Kuss, A.; Humphrey, N.; Mundlos, S.; Robinson, P. N.: CA8 Mutations Cause a Novel Syndrome Characterized by Ataxia and Mild Mental Retardation with Predisposition to Quadrupedal Gait. PLoS Genetics 5, S. e1000487 - e1000487 (2009)

Kahrizi, K.; Najmabadi, H.; Kariminejad, R.; Jamali, P.; Malekpour, M.; Garshasbi, M.; Ropers, H.-H.; Kuss, A. W.; Tzschach, A.: An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4. European Journal of Human Genetics 17 (1), S. 125 - 128 (2009)

Seifert, W.; Holder-Espinasse, M.; Kühnisch, J.; Kahrizi, K.; Tzschach, A.; Garshasbi, M.; Najmabadi, H.; Kuss, A. W.; Kress, W.; Laureys, G. et al.; Loeys, B.; Brilstra, E.; Mancini, G. M.S.; Dollfus, H.; Dahan, K.; Apse, K.; Hennies, H. C.; Horn, D.: Expanded mutational spectrum in Cohen Syndrome, tissue expression, and transcript variants of COH1. Human Mutation 30 (2), S. E404 - E420 (2008)

Tzschach, A.; Bozorgmehr, B.; Hadavi, V.; Kahrizi, K.; Garshasbi, M.; Motazacker, M. M.; Ropers, H.-H.; Kuss, A.; Najmabad, H.: Alopecia-mental retardation syndrome: clinical and molecular characterization of four patients. British Journal of Dermatology 159 (3), S. 748 - 751 (2008)

Garshasbi, M.; Hadavi, V.; Habibi, H.; Kahrizi, K.; Kariminejad, R.; Behjati, F.; Tzschach, A.; Najmabadi, H.; Ropers, H.-H.; Kuss, A. W.: A defect in the TUSC3 gene is associated with autosomal recessive mental retardation. The American Journal of Human Genetics 82 (5), S. 1158 - 1164 (2008)

Moheb, L. A.; Tzschach, A.; Garshasbi, M.; Kahrizi, K.; Darvish, H.; Heshmati, Y.; Kordi, A.; Najmabadi, H.; Ropers, H.-H.; Kuss, A. W.: Identification of nonsense mutation in the very low density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome. European Journal of Human Genetics 16, S. 270 - 273 (2008)

Najmabadi, H.; Motazacker, M. M.; Garshasbi, M.; Kahrizi, K.; Tzschach, A.; Chen, W.; Behjati, F.; Hadavi, V.; Nieh, S. E.; Abedini, S. S. et al.; Vazifehmand, R.; Firouzabadi, S. G.; Jamali, P.; Falah, M.; Seifati, S. M.; Grüters, A.; Lenzner, S.; Jensen, L. R.; Rüschendorf, F.; Kuss, A. W.; Ropers, H.-H.: Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci. Human Genetics 121 (1), S. 43 - 48 (2007)

Dadgar, S.; Hagens, O.; Dadgar, S. R.; Haghighi, E. N.; Schimpf, S.; Wissinger, B.; Garshasbi, M.: Structural model of the OPA1 GTPase domain may explain the molecular consequences of a novel mutation in a family with autosomal dominant optic atrophy. Experimental Eye Research 83 (3), S. 702 - 706 (2006)

Garshasbi, M.; Motazacker, M. M.; Kahrizi, K.; Behjati, F.; Abedini, S. S.; Nieh, S. E.; Firouzabadi, S. G.; Becker, C.; Rüschendorf, F.; Nürnberg, P. et al.; Tzschach, A.; Vazifehmand, R.; Erdogan, F.; Ullmann, R.; Lenzner, S.; Kuss, A. W.; Ropers, H.-H.; Najmabadi, H.: SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly. Human Genetics 118 (6), S. 708 - 715 (2006)

Garshasbi, M.: Identification of 31 genomic loci for autosomal recessive mental retardation and molecular genetic characterization of novel causative mutations in four genes. Dissertation, Freie Universität Berlin, Berlin (2009)