AAAAAA

   
Results: 1-25 | 26-29
Results: 1-25/29
Improved definition of chromosomal breakpoints using high-resolution multicolour banding
Authors: Lemke, J Chudoba, I Senger, G Stumm, M Loncarevic, IF Henry, C Zabel, B Claussen, U
Citation: J. Lemke et al., Improved definition of chromosomal breakpoints using high-resolution multicolour banding, HUM GENET, 108(6), 2001, pp. 478-483
Short stature homeobox-containing gene deletion screening by fluorescence in situ hybridisation in patients with short stature
Authors: Musebeck, J Mohnike, K Beye, P Tonnies, H Neitzel, H Schnabel, D Gruters, A Wieacker, PF Stumm, M
Citation: J. Musebeck et al., Short stature homeobox-containing gene deletion screening by fluorescence in situ hybridisation in patients with short stature, EUR J PED, 160(9), 2001, pp. 561-565
Comparative genomic hybridization based strategy for the analysis of different chromosome imbalances detected in conventional cytogenetic diagnostics
Authors: Tonnies, H Stumm, M Wegner, RD Chudoba, I Kalscheuer, V Neitzel, H
Citation: H. Tonnies et al., Comparative genomic hybridization based strategy for the analysis of different chromosome imbalances detected in conventional cytogenetic diagnostics, CYTOG C GEN, 93(3-4), 2001, pp. 188-194
High frequency of spontaneous translocations revealed by FISH in cells from patients with the cancer-prone syndromes ataxia telangiectasia and Nijmegen breakage syndrome
Authors: Stumm, M Neubauer, S Keindorff, S Wegner, RD Wieacker, P Sauer, R
Citation: M. Stumm et al., High frequency of spontaneous translocations revealed by FISH in cells from patients with the cancer-prone syndromes ataxia telangiectasia and Nijmegen breakage syndrome, CYTOG C GEN, 92(3-4), 2001, pp. 186-191
Intercellular distribution of aberrations detected by means of chromosome painting in cells of patients with cancer prone chromosome instability syndromes
Authors: Arutyunyan, R Neubauer, S Martus, P Dork, T Stumm, M Gebhart, E
Citation: R. Arutyunyan et al., Intercellular distribution of aberrations detected by means of chromosome painting in cells of patients with cancer prone chromosome instability syndromes, EXP ONCOL, 23(1), 2001, pp. 23-28
In vivo angiogenesis in normal and portal hypertensive rats: role of basicfibroblast growth factor and nitric oxide
Authors: Sieber, CC Sumanovski, LT Stumm, M van der Kooij, M Battegay, E
Citation: Cc. Sieber et al., In vivo angiogenesis in normal and portal hypertensive rats: role of basicfibroblast growth factor and nitric oxide, J HEPATOL, 34(5), 2001, pp. 644-650
Preferential inactivation of a dupX(q23 -> q27-28) chromosome in a girl with mental retardation and dysmorphy
Authors: Volleth, M Stumm, M Mohnike, K Kalscheuer, VM Jakubiczka, S Wieacker, P
Citation: M. Volleth et al., Preferential inactivation of a dupX(q23 -> q27-28) chromosome in a girl with mental retardation and dysmorphy, HUMAN HERED, 52(3), 2001, pp. 177-182
Deletion of the DM-domain gene cluster in a fetus with ring chromosome 9 and sex reversal
Authors: Stumm, M Wieacker, P Kessel-Weiner, E Theile, U Pascu, F Ottolenghi, C
Citation: M. Stumm et al., Deletion of the DM-domain gene cluster in a fetus with ring chromosome 9 and sex reversal, PEDIAT PATH, 19(6), 2000, pp. 415-423
Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum
Authors: Struk, B Cai, L Zach, S Chung, WJJ Lumsden, A Stumm, M Huber, M Schaen, L Kim, CA Goldsmith, LA Viljoen, D Figuera, LE Fuchs, W Munier, F Ramesar, R Hohl, D Richards, R Neldner, KH Lindpaintner, K
Citation: B. Struk et al., Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum, J MOL MED-J, 78(5), 2000, pp. 282-286
A 500-kb region on chromosome 16p13.1 contains the pseudoxanthoma elasticum locus: high-resolution mapping and genomic structure
Authors: Cai, L Struk, B Adams, MD Ji, W Haaf, T Kang, HL Dho, SH Xu, XQ Ringpfeil, F Nancarrow, J Zach, S Schaen, L Stumm, M Niu, TH Chung, J Lunze, K Verrecchia, B Goldsmith, LA Viljoen, D Figuera, LE Fuchs, W Lebwohl, M Uitto, J Richards, R Hohl, D Ramesar, R Callen, DF Kim, UJ Doggett, NA Neldner, KH Lindpainter, K
Citation: L. Cai et al., A 500-kb region on chromosome 16p13.1 contains the pseudoxanthoma elasticum locus: high-resolution mapping and genomic structure, J MOL MED-J, 78(1), 2000, pp. 36-46
Female pseudohermaphroditism caused by caudal dysgenesis
Authors: Wieacker, P Grumpelt, U Schulz, TO Gharavi, B Avenarius, S Jakubiczka, S Stumm, M
Citation: P. Wieacker et al., Female pseudohermaphroditism caused by caudal dysgenesis, CYTOG C GEN, 91(1-4), 2000, pp. 296-299
Incidental prenatal detection of an Xp deletion using an anonymous primer pair for fetal sexing
Authors: Jakubiczka, S Mitulla, B Liehr, T Arnemann, J Lehrach, H Sudbrak, R Stumm, M Wieacker, PF Bettecken, T
Citation: S. Jakubiczka et al., Incidental prenatal detection of an Xp deletion using an anonymous primer pair for fetal sexing, PRENAT DIAG, 20(10), 2000, pp. 842-846
A novel translocation (17;19)(p13;p13) in a patient with acute myelomonocytic leukemia
Authors: Bruckner, R Jentsch-Ullrich, K Franke, A Wieacker, P Stumm, M
Citation: R. Bruckner et al., A novel translocation (17;19)(p13;p13) in a patient with acute myelomonocytic leukemia, CANC GENET, 119(1), 2000, pp. 77-79
Portal hypertension and angiogenesis
Authors: Stumm, M Sieber, C
Citation: M. Stumm et C. Sieber, Portal hypertension and angiogenesis, SCHW MED WO, 130(7), 2000, pp. 233-239
Radiosensitivity in Nijmegen Breakage syndrome cells is attributable to a repair defect and not cell cycle checkpoint defects
Authors: Girard, PM Foray, N Stumm, M Waugh, A Riballo, E Maser, RS Phillips, WP Petrini, J Arlett, CF Jeggo, PA
Citation: Pm. Girard et al., Radiosensitivity in Nijmegen Breakage syndrome cells is attributable to a repair defect and not cell cycle checkpoint defects, CANCER RES, 60(17), 2000, pp. 4881-4888
No evidence for a major role of heterozygous deletion 657del5 within the NBS1 gene in the pathogenesis of non-Hodgkin's lymphoma of childhood and adolescence
Authors: Stanulla, M Stumm, M Dieckvoss, BO Seidemann, K Schemmel, V Brechlin, AM Schrappe, M Welte, K Reiter, A
Citation: M. Stanulla et al., No evidence for a major role of heterozygous deletion 657del5 within the NBS1 gene in the pathogenesis of non-Hodgkin's lymphoma of childhood and adolescence, BR J HAEM, 109(1), 2000, pp. 117-120
FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy
Authors: Bartsch, O Wagner, A Hinkel, GK Krebs, P Stumm, M Schmalenberger, B Bohm, S Balci, S Majewski, F
Citation: O. Bartsch et al., FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy, EUR J HUM G, 7(7), 1999, pp. 748-756
Impaired p53-mediated DNA damage response, cell-cycle disturbance and chromosome aberrations in Nijmegen breakage syndrome lymphoblastoid cell lines
Authors: Antoccia, A Stumm, M Saar, K Ricordy, R Maraschio, P Tanzarella, C
Citation: A. Antoccia et al., Impaired p53-mediated DNA damage response, cell-cycle disturbance and chromosome aberrations in Nijmegen breakage syndrome lymphoblastoid cell lines, INT J RAD B, 75(5), 1999, pp. 583-591
The presynaptic cytomatrix protein bassoon: Sequence and chromosomal localization of the human BSN gene
Authors: Winter, C tom Dieck, S Boeckers, TM Bockmann, J Kampf, U Sanmarti-Vila, L Langnaese, K Altrock, W Stumm, M Soyke, A Wieacker, P Garner, CC Gundelfinger, ED
Citation: C. Winter et al., The presynaptic cytomatrix protein bassoon: Sequence and chromosomal localization of the human BSN gene, GENOMICS, 57(3), 1999, pp. 389-397
Computational RAM: Implementing processors in memory
Authors: Elliott, DG Stumm, M Snelgrove, WM Cojocaru, C McKenzie, R
Citation: Dg. Elliott et al., Computational RAM: Implementing processors in memory, IEEE DES T, 16(1), 1999, pp. 32-41
Molecular cytogenetic techniques for the diagnosis of chromosomal abnormalities in childhood disease
Authors: Stumm, M Tonnies, H Wieacker, PF
Citation: M. Stumm et al., Molecular cytogenetic techniques for the diagnosis of chromosomal abnormalities in childhood disease, EUR J PED, 158(7), 1999, pp. 531-536
Mosaic tetrasomy 9p in a girl with multiple congenital anomalies: cytogenetic and molecular-cytogenetic studies
Authors: Stumm, M Tonnies, H Mandon, U Gotze, A Krebs, P Wieacker, PF
Citation: M. Stumm et al., Mosaic tetrasomy 9p in a girl with multiple congenital anomalies: cytogenetic and molecular-cytogenetic studies, EUR J PED, 158(7), 1999, pp. 571-575
Trisomy 4p as result of a maternal translocation t(4;8) (q11;p23)
Authors: Stumm, M Reuter, M Mandon, U Bruckner, R Wieacker, P
Citation: M. Stumm et al., Trisomy 4p as result of a maternal translocation t(4;8) (q11;p23), KLIN PADIAT, 211(1), 1999, pp. 35-39
Increased angiogenesis in portal hypertensive rats: Role of nitric oxide
Authors: Sumanovski, LT Battegay, E Stumm, M van der Kooij, M Sieber, CC
Citation: Lt. Sumanovski et al., Increased angiogenesis in portal hypertensive rats: Role of nitric oxide, HEPATOLOGY, 29(4), 1999, pp. 1044-1049
Frequency of CFTR gene mutations in males participating in an ICSI programme
Authors: Jakubiczka, S Bettecken, T Stumm, M Nickel, I Musebeck, J Krebs, P Fischer, C Kleinstein, J Wieacker, P
Citation: S. Jakubiczka et al., Frequency of CFTR gene mutations in males participating in an ICSI programme, HUM REPR, 14(7), 1999, pp. 1833-1834
Risultati: 1-25 | 26-29