Publications of Masoud Garshasbi
All genres
Journal Article (29)
21.
Journal Article
5, p. e1000487 - e1000487 (2009)
CA8 Mutations Cause a Novel Syndrome Characterized by Ataxia and Mild Mental Retardation with Predisposition to Quadrupedal Gait. PLoS Genetics 22.
Journal Article
17 (1), pp. 125 - 128 (2009)
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 23.
Journal Article
30 (2), pp. E404 - E420 (2008)
Expanded mutational spectrum in Cohen Syndrome, tissue expression, and transcript variants of COH1. Human Mutation 24.
Journal Article
159 (3), pp. 748 - 751 (2008)
Alopecia-mental retardation syndrome: clinical and molecular characterization of four patients. British Journal of Dermatology 25.
Journal Article
82 (5), pp. 1158 - 1164 (2008)
A defect in the TUSC3 gene is associated with autosomal recessive mental retardation. The American Journal of Human Genetics 26.
Journal Article
16, pp. 270 - 273 (2008)
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 27.
Journal Article
121 (1), pp. 43 - 48 (2007)
Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci. Human Genetics 28.
Journal Article
83 (3), pp. 702 - 706 (2006)
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 29.
Journal Article
118 (6), pp. 708 - 715 (2006)
SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly. Human Genetics Thesis - PhD (1)
30.
Thesis - PhD
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)