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Results: 1-17 |
Results: 17
Molecular cytogenetics and phenotype characterization of a de novo pure partial trisomy 10(q24.33-qter)
Authors: Petek, E Kostl, G Rauter, L Mutz, I Wagner, K Kroisel, PM
Citation: E. Petek et al., Molecular cytogenetics and phenotype characterization of a de novo pure partial trisomy 10(q24.33-qter), CLIN DYSMOR, 10(2), 2001, pp. 151-153
Identification of the human cortactin-binding protein-2 gene from the autism candidate region at 7q31
Authors: Cheung, J Petek, E Nakabayashi, K Tsui, LC Vincent, JB Scherer, SW
Citation: J. Cheung et al., Identification of the human cortactin-binding protein-2 gene from the autism candidate region at 7q31, GENOMICS, 78(1-2), 2001, pp. 7-11
Chronic myeloid leukemia with a rare variant Philadelphia translocation: t(9;10;22)(q34;q22;q11)
Authors: Emberger, W Behmel, A Tschernigg, M Seewann, HL Petek, E Kroisel, PM Wagner, K
Citation: W. Emberger et al., Chronic myeloid leukemia with a rare variant Philadelphia translocation: t(9;10;22)(q34;q22;q11), CANC GENET, 129(1), 2001, pp. 76-79
Clinical and molecular cytogenetic characterization of two patients with partial trisomy 1q41-qter: Further delineation of partial trisomy 1q syndrome
Authors: Emberger, W Petek, E Kroisel, PM Zierler, H Wagner, K
Citation: W. Emberger et al., Clinical and molecular cytogenetic characterization of two patients with partial trisomy 1q41-qter: Further delineation of partial trisomy 1q syndrome, AM J MED G, 104(4), 2001, pp. 312-318
Phenotype of five patients with Greig syndrome and microdeletion of 7p13
Authors: Kroisel, PM Petek, E Wagner, A
Citation: Pm. Kroisel et al., Phenotype of five patients with Greig syndrome and microdeletion of 7p13, AM J MED G, 102(3), 2001, pp. 243-249
Candidate region for Gilles de la Tourette Syndrome at 7q31
Authors: Kroisel, PM Petek, E Emberger, W Windpassinger, C Wladika, W Wagner, K
Citation: Pm. Kroisel et al., Candidate region for Gilles de la Tourette Syndrome at 7q31, AM J MED G, 101(3), 2001, pp. 259-261
Disruption of a novel gene (IMMP2L) by a breakpoint in 7q31 associated with Tourette syndrome
Authors: Petek, E Windpassinger, C Vincent, JB Cheung, J Boright, AP Scherer, SW Kroisel, PM Wagner, K
Citation: E. Petek et al., Disruption of a novel gene (IMMP2L) by a breakpoint in 7q31 associated with Tourette syndrome, AM J HU GEN, 68(4), 2001, pp. 848-858
Characterization of a de novo partial trisomy 22q13-qter in a patient by microFISH
Authors: Petek, E Kostl, G Mutz, I Wagner, K Kroisel, PM
Citation: E. Petek et al., Characterization of a de novo partial trisomy 22q13-qter in a patient by microFISH, CLIN DYSMOR, 9(1), 2000, pp. 55-57
Localization of the human anterior gradient-2 gene (AGR2) to chromosome band 7p21.3 by radiation hybrid mapping and fluorescence in situ hybridisation
Authors: Petek, E Windpassinger, C Egger, H Kroisel, PM Wagner, K
Citation: E. Petek et al., Localization of the human anterior gradient-2 gene (AGR2) to chromosome band 7p21.3 by radiation hybrid mapping and fluorescence in situ hybridisation, CYTOG C GEN, 89(3-4), 2000, pp. 141-142
Assignment of the human GABAA receptor delta-subunit gene (GABRD) to chromosome band 1p36.3 distal to marker NIB1364 by radiation hybrid mapping
Authors: Emberger, W Windpassinger, C Petek, E Kroisel, PM Wagner, K
Citation: W. Emberger et al., Assignment of the human GABAA receptor delta-subunit gene (GABRD) to chromosome band 1p36.3 distal to marker NIB1364 by radiation hybrid mapping, CYTOG C GEN, 89(3-4), 2000, pp. 281-282
Prenatal diagnosis of partial trisomy 4q26-qter and monosomy for the Wolf-Hirschhorn critical region in a fetus with split hand malformation
Authors: Petek, E Wagner, K Steiner, H Schaffer, H Kroisel, PM
Citation: E. Petek et al., Prenatal diagnosis of partial trisomy 4q26-qter and monosomy for the Wolf-Hirschhorn critical region in a fetus with split hand malformation, PRENAT DIAG, 20(4), 2000, pp. 349-352
Complex chromosomal translocation in a patient with Kallmann syndrome
Authors: Kroisel, PM Petek, E Wagner, K Kurnik, P
Citation: Pm. Kroisel et al., Complex chromosomal translocation in a patient with Kallmann syndrome, AM J MED G, 91(3), 2000, pp. 240-240
Skin pigmentary anomalies in a mosaic form of partial tetrasomy 3q
Authors: Kroisel, PM Petek, E Wagner, K
Citation: Pm. Kroisel et al., Skin pigmentary anomalies in a mosaic form of partial tetrasomy 3q, J MED GENET, 37(9), 2000, pp. 723-725
A de novo complex chromosomal rearrangement involving chromosomes 2, 3, and 10 associated with microcephaly and early onset spasticity
Authors: Emberger, W Petek, E Plecko-Startinig, B Kroisel, PM Zierler, H Wagner, K
Citation: W. Emberger et al., A de novo complex chromosomal rearrangement involving chromosomes 2, 3, and 10 associated with microcephaly and early onset spasticity, J MED GENET, 37(11), 2000, pp. 892-896
Phenotypic and genotypic heterogeneity in hereditary motor neuronopathy type V - A clinical, electrophysiological and genetic study
Authors: Auer-Grumbach, M Loscher, WN Wagner, K Petek, E Korner, E Offenbacher, H Hartung, HP
Citation: M. Auer-grumbach et al., Phenotypic and genotypic heterogeneity in hereditary motor neuronopathy type V - A clinical, electrophysiological and genetic study, BRAIN, 123, 2000, pp. 1612-1623
Assignment of STAC to human chromosome band 3p22.3 between D3S3718 and D3S1611
Authors: Petek, E Emberger, W Kroisel, PM Wagner, K
Citation: E. Petek et al., Assignment of STAC to human chromosome band 3p22.3 between D3S3718 and D3S1611, CYTOG C GEN, 84(3-4), 1999, pp. 184-185
Mosaicism in a fragile X male including a de novo deletion in the FMR1 gene
Authors: Petek, E Kroisel, PM Schuster, M Zierler, H Wagner, K
Citation: E. Petek et al., Mosaicism in a fragile X male including a de novo deletion in the FMR1 gene, AM J MED G, 84(3), 1999, pp. 229-232
Risultati: 1-17 |