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Results:
1-20
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Results: 20
Authors:
El-Maarri, O
Buiting, K
Peery, EG
Kroisel, PM
Balaban, B
Wagner, K
Urman, B
Heyd, J
Lich, C
Brannan, CI
Walter, J
Horsthemke, B
Citation: O. El-maarri et al., Maternal methylation imprints on human chromosome 15 are established during or after fertilization, NAT GENET, 27(3), 2001, pp. 341-344
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
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
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
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
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
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
Authors:
Hegenbarth, K
Maurer, U
Kroisel, PM
Fickert, P
Trauner, M
Stauber, RE
Citation: K. Hegenbarth et al., No evidence for mutagenic effects of ribavirin: Report of two normal pregnancies, AM J GASTRO, 96(7), 2001, pp. 2286-2287
Authors:
Kumar-Singh, S
De Jonghe, C
Cruts, M
Kleinert, R
Wang, R
Mercken, M
De Strooper, B
Vanderstichele, H
Lofgren, A
Vanderhoeven, I
Backhovens, H
Vanmechelen, E
Kroisel, PM
Van Broeckhoven, C
Citation: S. Kumar-singh et al., Nonfibrillar diffuse amyloid deposition due to a gamma(42)-secretase site mutation points to an essential role for N-truncated A beta(42) in Alzheimer's disease, HUM MOL GEN, 9(18), 2000, pp. 2589-2598
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
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
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
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
Authors:
Loffler, J
Trojovsky, A
Casati, B
Kroisel, PM
Utermann, G
Citation: J. Loffler et al., Homozygosity for the W151X stop mutation in the Delta 7-sterol reductase gene (DHCR7) causing a lethal form of Smith-Lemli-Opitz syndrome: Retrospective molecular diagnosis, AM J MED G, 95(2), 2000, pp. 174-177
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
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
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
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
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
Authors:
Pertl, B
Kopp, S
Kroisel, PM
Tului, L
Brambati, B
Adinolfi, M
Citation: B. Pertl et al., Rapid detection of chromosome aneuploidies by quantitative fluorescence PCR: first application on 247 chorionic villus samples, J MED GENET, 36(4), 1999, pp. 300-303
Risultati:
1-20
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