Publications of Andreas Tzschach
All genres
Journal Article (80)
41.
Journal Article
17 (4), pp. 444 - 453 (2009)
Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy. European Journal of Human Genetics 42.
Journal Article
17 (4), pp. 420 - 425 (2009)
Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome. European Journal of Human Genetics 43.
Journal Article
149 (2), pp. 242 - 245 (2009)
Interstitial deletion 2p11.2-p12: Report of a patient with mental retardation and review of the literature. American Journal of Medical Genetics Part A 44.
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 45.
Journal Article
30 (1), pp. 61 - 68 (2009)
A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation. Human Mutation 46.
Journal Article
30 (2), pp. E404 - E420 (2008)
Expanded mutational spectrum in Cohen Syndrome, tissue expression, and transcript variants of COH1. Human Mutation 47.
Journal Article
11, pp. 705 - 709 (2008)
High frequency of submicroscopic genomic aberrations detected by tiling path array CGH in patients with isolated congenital heart disease. Journal of Medical Genetics 48.
Journal Article
159 (3), pp. 748 - 751 (2008)
Alopecia-mental retardation syndrome: clinical and molecular characterization of four patients. British Journal of Dermatology 49.
Journal Article
146A (14), pp. 1859 - 1864 (2008)
Czech dysplasia: report of a large family and further delineation of the phenotype. American Journal of Medical Genetics Part A 50.
Journal Article
146A (14), pp. 1859 - 1864 (2008)
Czech dysplasia: report of a large family and further delineation of the phenotype. American Journal of Medical Genetics Part A 51.
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 52.
Journal Article
16 (9), pp. 1029 - 1037 (2008)
MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression. European Journal of Human Genetics 53.
Journal Article
18 (7), pp. 1143 - 1149 (2008)
Mapping translocation breakpoints by next-generation sequencing. Genome Research 54.
Journal Article
29 (1), pp. 37 - 40 (2008)
Blepharophimosis-ptosis, epicanthus inversus syndrome in a girl with chromosome translocation t(2;3) (q33;q23). Ophthalmic Genetics 55.
Journal Article
146 (3), pp. 337 - 342 (2008)
Chromosome deletions in 13q33-34: Report of four patients and review of the literature. American Journal of Medical Genetics Part A 56.
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 57.
Journal Article
146A (2), pp. 197 - 203 (2008)
Characterization of Interstitial Xp duplications in two families by tiling path array CGH. American Journal of Medical Genetics. American Journal of Medical Genetics Part A 58.
Journal Article
81 (4), pp. 792 - 798 (2007)
A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation. The American Journal of Human Genetics: AJHG 59.
Journal Article
167 (5), pp. 615 - 623 (2007)
Radiation induced late effects in two affected individuals of the Lilo radiation accident. Radiation Research 60.
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