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Results: 1-11 |
Results: 11
Uniparental isodisomy for paternal 2p and maternal 2q in a phenotypically normal female with two isochromosomes, i(2p) and i(2q)
Authors: Albrecht, B Mergenthaler, S Eggermann, K Zerres, K Passarge, E Eggermann, T
Citation: B. Albrecht et al., Uniparental isodisomy for paternal 2p and maternal 2q in a phenotypically normal female with two isochromosomes, i(2p) and i(2q), J MED GENET, 38(3), 2001, pp. 214-215
Identification of interstitial maternal uniparental disomy (UPD) (14) and complete maternal UPD(20) in a cohort of growth retarded patients
Authors: Eggermann, T Mergenthaler, S Eggermann, K Albers, A Linnemann, K Fusch, C Ranke, MB Wollmann, HA
Citation: T. Eggermann et al., Identification of interstitial maternal uniparental disomy (UPD) (14) and complete maternal UPD(20) in a cohort of growth retarded patients, J MED GENET, 38(2), 2001, pp. 86-89
Segmental uniparental disomy of 7q31-qter is rare in Silver-Russell syndrome
Authors: Eggermann, T Mergenthaler, S Eggermann, K Ranke, MB Wollmann, H
Citation: T. Eggermann et al., Segmental uniparental disomy of 7q31-qter is rare in Silver-Russell syndrome, CLIN GENET, 60(5), 2001, pp. 395-396
IRS1 and GRB2 as members of the IGF signal transduction pathway are not associated with intrauterine growth retardation and Silver-Russell syndrome
Authors: Eggermann, T Kloos, P Mergenthaler, S Eggermann, K Dobos, M Ranke, MB Wollmann, HA
Citation: T. Eggermann et al., IRS1 and GRB2 as members of the IGF signal transduction pathway are not associated with intrauterine growth retardation and Silver-Russell syndrome, CLIN GENET, 59(5), 2001, pp. 371-373
Origin of uniparental disomy 6: presentation of a new case and review on the literature
Authors: Eggermann, T Marg, W Mergenthaler, S Eggermann, K Schemmel, V Stoffers, U Zerres, K Spranger, S
Citation: T. Eggermann et al., Origin of uniparental disomy 6: presentation of a new case and review on the literature, ANN GENET, 44(1), 2001, pp. 41-45
A second case of inv(4)pat with both recombinants in the offspring: rec dup(4q) in a girl with Wolf-Hirschhorn syndrome and rec dup(4p)
Authors: Dufke, A Eggermann, K Balg, S Stengel-Rutkowski, S Enders, H Kaiser, P
Citation: A. Dufke et al., A second case of inv(4)pat with both recombinants in the offspring: rec dup(4q) in a girl with Wolf-Hirschhorn syndrome and rec dup(4p), CYTOG C GEN, 91(1-4), 2000, pp. 85-89
Rare case of de novo interstitial deletion 2q13q21: Clinical, cytogenetic,and molecular studies
Authors: Eggermann, K Dufke, A Enders, H Kaiser, P Stotter, M Eggerman, T
Citation: K. Eggermann et al., Rare case of de novo interstitial deletion 2q13q21: Clinical, cytogenetic,and molecular studies, AM J MED G, 92(2), 2000, pp. 153-154
Formation of uniparental disomy 7 delineated from new cases and a UPD7 case after trisomy 7 rescue. Presentation of own results and review of the literature
Authors: Mergenthaler, S Wollmann, HA Burger, B Eggermann, K Kaiser, P Ranke, MB Schwanitz, G Eggermann, T
Citation: S. Mergenthaler et al., Formation of uniparental disomy 7 delineated from new cases and a UPD7 case after trisomy 7 rescue. Presentation of own results and review of the literature, ANN GENET, 43(1), 2000, pp. 15-21
Search for uniparental disomy 14 in balanced Robertsonian translocation carriers
Authors: Eggermann, T Wolf, M Spaich, C Uyanik, G Wolff, G Eggermann, K Mau, UA Kaiser, P
Citation: T. Eggermann et al., Search for uniparental disomy 14 in balanced Robertsonian translocation carriers, CLIN GENET, 56(6), 1999, pp. 464-466
Biparental expression of IGFBP1 and IGFBP3 renders their involvement in the etiology of Silver-Russell syndrome unlikely
Authors: Eggermann, K Wollmann, HA Binder, G Kaiser, P Ranke, MB Eggermann, T
Citation: K. Eggermann et al., Biparental expression of IGFBP1 and IGFBP3 renders their involvement in the etiology of Silver-Russell syndrome unlikely, ANN GENET, 42(2), 1999, pp. 117-121
Screening for mutations in the promoter and the coding region of the IGFBP1 and IGFBP3 genes in Silver-Russell syndrome patients
Authors: Eggermann, K Wollmann, HA Tomiuk, J Ranke, MB Kaiser, P Eggermann, T
Citation: K. Eggermann et al., Screening for mutations in the promoter and the coding region of the IGFBP1 and IGFBP3 genes in Silver-Russell syndrome patients, HUMAN HERED, 49(3), 1999, pp. 123-128
Risultati: 1-11 |