Journal Article (870)

841.
Journal Article
Gamerdinger, U.; Bosse, K.; Eggermann, T.; Kalscheuer, V.; Schwanitz, G.; Engels, H.: First report of a partial trisomy 3q12-q23 de novo--FISH breakpoint determination and phenotypic characterization. Eur J Med Genet 49 (3), pp. 225 - 34 (2006)
842.
Journal Article
Tzschach, A.; Hoeltzenbein, M.; Hoffmann, K.; Menzel, C.; Beyer, A.; Ocker, V.; Wurster, G.; Raynaud, M.; Ropers, H. H.; Kalscheuer, V. et al.; Heilbronner, H.: Heterotaxy and cardiac defect in a girl with chromosome translocation t(X;1)(q26;p13.1) and involvement of ZIC3. Eur J Hum Genet 14 (12), pp. 1317 - 20 (2006)
843.
Journal Article
Meierhofer, D.; Mayr, J. A.; Ebner, S.; Sperl, W.; Kofler, B.: Rapid screening of the entire mitochondrial DNA for low-level heteroplasmic mutations. Mitochondrion 5 (4), pp. 282 - 296 (2005)
844.
Journal Article
Zi, Z.; Cho, K.-H.; Sung, M.-H.; Xia, X.; Zheng, J.; Sun, Z.: In silico identification of the key components and steps in IFN-γ induced JAK-STAT signaling pathway. FEBS Letters 579 (5), pp. 1101 - 1108 (2005)
845.
Journal Article
Boonen, S. E.; Stahl, D.; Kreiborg, S.; Rosenberg, T.; Kalscheuer, V.; Larsen, L. A.; Tommerup, N.; Brondum-Nielsen, K.; Tumer, Z.: Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome. Am J Med Genet A 132A (3), pp. 324 - 8 (2005)
846.
Journal Article
Tumer, Z.; Henriksen, A. M.; Bache, I.; Brixen, K.; Kalscheuer, V.; Illum, N.; Rasmussen, K.; Larsen, L. A.; Tommerup, N.: Eponymous Jacobsen syndrome: mapping the breakpoints of the original family suggests an association between the distal 1.1 Mb of chromosome 21 and osteoporosis in Down syndrome. Am J Med Genet A 135 (3), pp. 339 - 41 (2005)
847.
Journal Article
Meierhofer, D.; Mayr, J. A.; Foetschl, U.; Berger, A.; Fink, K.; Schmeller, N.; Hacker, G. W.; Hauser-Kronberger, C.; Kofler, B.; Sperl, W.: Decrease of mitochondrial DNA content and energy metabolism in renal cell carcinoma. Carcinogenesis 25 (6), pp. 1005 - 1010 (2004)
848.
Journal Article
Berger, A.; Mayr, J. A.; Meierhofer, D.; Fötschl, U.; Bittner, R.; Budka, H.; Grethen, C.; Huemer, M.; Kofler, B.; Sperl, W.: Severe depletion of mitochondrial DNA in spinal muscular atrophy. Acta Neuropathologica 105 (3), pp. 245 - 251 (2003)
849.
Journal Article
Brunner, B.; Hornung, U.; Shan, Z.; Nanda, I.; Kondo, M.; Zend-Ajusch, E.; Haaf, T.; Ropers, H. H.; Shima, A.; Schmid, M. et al.; Kalscheuer, V. M.; Schartl, M.: Genomic organization and expression of the doublesex-related gene cluster in vertebrates and detection of putative regulatory regions for DMRT1. Genomics 77 (1-2), pp. 8 - 17 (2001)
850.
Journal Article
Fritz, B.; Aslan, M.; Kalscheuer, V.; Ramsing, M.; Saar, K.; Fuchs, B.; Rehder, H.: Low incidence of UPD in spontaneous abortions beyond the 5th gestational week. Eur J Hum Genet 9 (12), pp. 910 - 6 (2001)
851.
Journal Article
Mergenthaler, S.; Hitchins, M. P.; Blagitko-Dorfs, N.; Monk, D.; Wollmann, H. A.; Ranke, M. B.; Ropers, H. H.; Apostolidou, S.; Stanier, P.; Preece, M. A. et al.; Eggermann, T.; Kalscheuer, V. M.; Moore, G. E.: Conflicting reports of imprinting status of human GRB10 in developing brain: how reliable are somatic cell hybrids for predicting allelic origin of expression? Am J Hum Genet 68 (2), pp. 543 - 5 (2001)
852.
Journal Article
Mergenthaler, S.; Sharp, A.; Ranke, M. B.; Kalscheuer, V. M.; Wollmann, H. A.; Eggermann, T.: Gene dosage analysis in Silver-Russell syndrome: use of quantitative competitive PCR and dual-color FISH to estimate the frequency of duplications in 7p11.2-p13. Genet Test 5 (3), pp. 261 - 6 (2001)
853.
Journal Article
Sudbrak, R.; Wieczorek, G.; Nuber, U. A.; Mann, W.; Kirchner, R.; Erdogan, F.; Brown, C. J.; Wohrle, D.; Sterk, P.; Kalscheuer, V. M. et al.; Berger, W.; Lehrach, H.; Ropers, H. H.: X chromosome-specific cDNA arrays: identification of genes that escape from X-inactivation and other applications. Hum Mol Genet 10 (1), pp. 77 - 83 (2001)
854.
Journal Article
Tonnies, H.; Stumm, M.; Wegner, R. D.; Chudoba, I.; Kalscheuer, V.; Neitzel, H.: Comparative genomic hybridization based strategy for the analysis of different chromosome imbalances detected in conventional cytogenetic diagnostics. Cytogenet Cell Genet 93 (3-4), pp. 188 - 94 (2001)
855.
Journal Article
Volleth, M.; Stumm, M.; Mohnike, K.; Kalscheuer, V. M.; Jakubiczka, S.; Wieacker, P.: Preferential inactivation of a dupX(q23 --> q27-28) chromosome in a girl with mental retardation and dysmorphy. Hum Hered 52 (3), pp. 177 - 82 (2001)
856.
Journal Article
Blagitko, N.; Mergenthaler, S.; Schulz, U.; Wollmann, H. A.; Craigen, W.; Eggermann, T.; Ropers, H. H.; Kalscheuer, V. M.: Human GRB10 is imprinted and expressed from the paternal and maternal allele in a highly tissue- and isoform-specific fashion. Hum Mol Genet 9 (11), pp. 1587 - 95 (2000)
857.
Journal Article
Brunner, B.; Grutzner, F.; Yaspo, M. L.; Ropers, H. H.; Haaf, T.; Kalscheuer, V. M.: Molecular cloning and characterization of the Fugu rubripes MEST/COPG2 imprinting cluster and chromosomal localization in Fugu and Tetraodon nigroviridis. Chromosome Res 8 (6), pp. 465 - 76 (2000)
858.
Journal Article
Mergenthaler, S.; Blagitko-Dorfs, N.; Wollmann, H. A.; Ranke, M. B.; Ropers, H. H.; Kalscheuer, V. M.; Eggermann, T.: Identification of two new polymorphisms (c2447-125A>G; c2532G>A) in the gamma 2-COP (COPG2) gene by screening of Silver-Russell syndrome patients. Hum Mutat 16 (1), p. 96 (2000)
859.
Journal Article
Singh, A.; Henschel, S.; Sperling, K.; Kalscheuer, V.; Neitzel, H.: Differences in the meiotic pairing behavior of gonosomal heterochromatin between female and male Microtus agrestis: implications for the mechanism of heterochromatin amplification on the X and Y. Cytogenet Cell Genet 91 (1-4), pp. 253 - 60 (2000)
860.
Journal Article
Blagitko, N.; Schulz, U.; Schinzel, A. A.; Ropers, H. H.; Kalscheuer, V. M.: gamma2-COP, a novel imprinted gene on chromosome 7q32, defines a new imprinting cluster in the human genome. Hum Mol Genet 8 (13), pp. 2387 - 96 (1999)
Go to Editor View