Publications of Vera M. Kalscheuer
All genres
Journal Article (174)
141.
Journal Article
130A (4), pp. 340 - 344 (2004)
Molecular cytogenetic characterization of ring chromosome 15 in three unrelated patients. American Journal of Medical Genetics 142.
Journal Article
12 (12), pp. 993 - 1000 (2004)
An excess of chromosome 1 breakpoints in male infertility. European Journal of Human Genetics 143.
Journal Article
128A (4), pp. 364 - 373 (2004)
Subtelomere FISH in 50 children with mental retardation and minor anomalies, identified by a checklist, detects 10 rearrangements including a de novo balanced translocation of chromosomes 17p13.3 and 20q13.33. American Journal of Medical Genetics 144.
Journal Article
75 (2), pp. 305 - 309 (2004)
Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation. American Journal of Human Genetics 145.
Journal Article
332, pp. 119 - 127 (2004)
cDNA cloning and characterization of the human THRAP2 gene which maps to chromosome 12q24, and its mouse ortholog Thrap2. Gene 146.
Journal Article
114 (6), pp. 541 - 552 (2004)
Regulation of the MID1 protein function is fine-tuned by a complex pattern of alternative splicing. Human Genetics 147.
Journal Article
114 (6), pp. 541 - 552 (2004)
Regulation of the MID1 protein function is fine-tuned by a complex pattern of alternative splicing. Human Genetics 148.
Journal Article
41, p. e25 - e25 (2004)
Early onset, non-progressive, mild cerebellar ataxia cosegregating with a familial balanced translocation t(8;20)(p22;q13). Journal of Medical Genetics 149.
Journal Article
41 (5), pp. 394 - 399 (2004)
Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation. Journal of Medical Genetics 150.
Journal Article
135A (3), pp. 179 - 191 (2004)
Interstitial deletion 9q22.32-q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin-Goltz syndrome and features of Nail-patella syndrome. American Journal of Medical Genetics Part A 151.
Journal Article
17 (2), pp. 453 - 460 (2004)
Divergent genetic and epigenetic post-zygotic isolation mechanisms in Mus and Peromyscus. Journal of Evolutionary Biology 152.
Journal Article
122 (1), pp. 61 - 64 (2004)
Evaluation of the IRF-2 gene as a candidate for PSORS3. Journal of Investigative Dermatology 153.
Journal Article
55 (1), pp. 134 - 13 (2004)
Chromosal translocation t(18;21)(q23;q22.1) indicates novel susceptibility loci for frontotemporal dementia with ALS. Annals of Neurology 154.
Journal Article
123A (2), pp. 129 - 139 (2003)
MECP2 gene mutations in non-syndromic X-linked mental retardation: Phenotype-genotype correlation. American Journal of Medical Genetics Part A 155.
Journal Article
35 (4), pp. 313 - 315 (2003)
Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation. Nature Genetics 156.
Journal Article
73 (6), pp. 1341 - 1354 (2003)
Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation. American Journal of Human Genetics 157.
Journal Article
11 (9), pp. 643 - 651 (2003)
Comprehensive analysis of human subtelomeres with combined binary ratio labelling fluorescence in situ hybridisation. European Journal of Human Genetics 158.
Journal Article
119A (3), pp. 367 - 374 (2003)
Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: Clinical study and mutation analysis of the NXF5 gene. American Journal of Medical Genetics Part A 159.
Journal Article
72 (6), pp. 1401 - 1411 (2003)
Disruption of the Serine/Threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation. American Journal of Human Genetics 160.
Journal Article
19 (6), pp. 316 - 320 (2003)
Nonsyndromic X-linked mental retardation: where are the missing mutations? Trends in Genetics