Publications of Andreas Tzschach
All genres
Journal Article (80)
61.
Journal Article
143 (2), pp. 172 - 178 (2007)
Characterization of a 5.3 Mb deletion in 15q14 by Comparative Genomic Hybridization using a whole genome ”tiling path” BAC array in a girl with heart defect, cleft palate and developmental delay. American Journal of Medical Genetics Part A 62.
Journal Article
143 (2), pp. 172 - 178 (2007)
Characterization of a 5.3 Mb deletion in 15q14 by Comparative Genomic Hybridization using a whole genome ”tiling path” BAC array in a girl with heart defect, cleft palate and developmental delay. American Journal of Medical Genetics Part A 63.
Journal Article
143 A (4), pp. 333 - 337 (2007)
Characterization of a 16 Mb interstitial chromosome 7q21 deletion by tiling path array CGH. American Journal of Medical Genetics 64.
Journal Article
28 (2), pp. 207 - 208 (2007)
Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium. Human Mutation 65.
Journal Article
121 (3-4), pp. 501 - 509 (2007)
Mutations in Autism Susceptibility Candidate 2 (AUTS2) in patients with mental retardation. Human Genetics 66.
Journal Article
15 (1), pp. 68 - 75 (2007)
X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11. European Journal of Human Genetics: EJHG ; the Official Journal of the European Society of Human Genetics 67.
Journal Article
15 (1), pp. 68 - 75 (2007)
X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11. European Journal of Human Genetics: EJHG ; the Official Journal of the European Society of Human Genetics 68.
Journal Article
20 A, pp. 1400 - 1405 (2007)
Genetik der mentalen Retardierung. Deutsches Ärzteblatt: Ärztliche Mitteilungen/Ausgabe A, Praxis-Ausgabe: Niedergelassene Ärzte 69.
Journal Article
14 (12), pp. 1317 - 1320 (2006)
Heterotaxy and cardiac defect in a girl with chromosome translocation t(X;1)(q26;p13.1) and involvement of ZIC3. European Journal of Human Genetics: EJHG ; the Official Journal of the European Society of Human Genetics 70.
Journal Article
120 (2), pp. 171 - 178 (2006)
A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome. Human Genetics 71.
Journal Article
140 (10), pp. 1108 - 1110 (2006)
Molecular cytogenetic analysis of a de novo interstitial chromosome 10q22 deletion. American Journal of Medical Genetics Part A 72.
Journal Article
27 (4), p. 389 - 389 (2006)
Novel JARID1C/SMCX mutations in patients with X-linked mental retardation. Human Mutation 73.
Journal Article
27 (4), p. 389 - 389 (2006)
Novel JARID1C/SMCX mutations in patients with X-linked mental retardation. Human Mutation 74.
Journal Article
126 (5), pp. 1003 - 1005 (2006)
A novel MGST2 non-synonymous mutation in a Chinese pedigree with psoriasis vulgaris. The Journal of Investigative Dermatology: Official Journal of the Society for Investigative Dermatology and the European Society for Dermatological Research 75.
Journal Article
140 (5), pp. 496 - 502 (2006)
Molecular cytogenetic analysis of a de novo interstitial deletion 5q23.3q31.2 and its phenotypic consequences. American Journal of Medical Genetics 76.
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 77.
Journal Article
2, pp. 187 - 193 (2006)
X-chromosomale Retardierung. Medizinische Genetik: : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V. 78.
Journal Article
76 (2), pp. 227 - 236 (2005)
: Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation. American Journal of Human Genetics 79.
Journal Article
76 (2), pp. 227 - 236 (2005)
: Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation. American Journal of Human Genetics 80.
Journal Article
35 (4), pp. 313 - 315 (2003)
Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation. Nature Genetics