Search Results - "BEENSEN, V"

A new multicolor-FISH approach for the characterization of marker chromosomes : Centromere-specific multicolor-FISH (CenM-FISH) by NIETZEL, Angela, ROCCHI, Mariano, STARKE, Heike, HELLER, Anita, FIEDLER, Wolfgang, WLODARSKA, Iwona, LONCAREVIC, Ivan F, BEENSEN, Volkmar, CLAUSSEN, Uwe, LIEHR, Thomas

“…Centromere-specific multi-color FISH (cenM-FISH) is a new multicolor FISH technique that allows the simultaneous characterization of all human centromeres by…”
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Maternal UPD 20 in a hyperactive child with severe growth retardation by Chudoba, I, Franke, Y, Senger, G, Sauerbrei, G, Demuth, S, Beensen, V, Neumann, A, Hansmann, I, Claussen, U

“…Maternal uniparental disomy was observed in a 4-year-old boy with severe pre- and postnatal growth retardation (body height: 85 cm = 12 cm < third percentile,…”
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Molecular cytogenetic characterisation of partial trisomy 9q in a case with pyloric stenosis and a review by Heller, Anita, Seidel, J, Hübler, A, Starke, H, Beensen, V, Senger, G, Rocchi, M, Wirth, J, Chudoba, I, Claussen, U, Liehr, T

“…Partial trisomy 9q represents a rare and heterogeneous group of chromosomal aberrations characterised by various clinical features including pyloric stenosis…”
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Interstitial deletion of chromosome 6q : precise definition of the breakpoints by microdissection, DNA amplification, and reverse painting by RUBTSOV, N, SENGER, G, KUZCERA, H, NEUMANN, A, KELBOVA, C, JUNKER, K, BEENSEN, V, CLAUSEN, U

“…Routine chromosomal analysis using GTG-banding alone showed a mosaic terminal deletion of 6q in a 14-week-old boy with developmental retardation, facial…”
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Evidence for a new microdeletion syndrome in 15q21 by Liehr, T, Starke, H, Heller, A, Weise, A, Beensen, V, Senger, G, Kittner, G, Prechtel, M, Claussen, U, Seidel, J

“…We report on the fourth known case with an interstitial deletion in 15q21. In the present case the breakpoints have been determined by GTG-banding,…”
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Conspicuous GTG-banding results of the centromere-near region can be caused by alphoid DNA heteromorphism by Liehr, T., Ziegler, M., Starke, H., Heller, A., Kuechler, A., Kittner, G., Beensen, V., Seidel, J., Häßler, H., Müsebeck, J., Claussen, U.

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Brachytelephalangic dwarfism due to the loss of ARSE and SHOX genes resulting from an X;Y translocation by Seidel, J, Schiller, S, Kelbova, C, Beensen, V, Orth, U, Vogt, S, Claussen, U, Zintl, F, Rappold, GA

“…Here we report an 8‐year‐old male patient who had mesomelic shortening of forearms and legs, brachytelephalangia and ichthyotic skin lesions. Chromosomal…”
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Pulmonary atresia with hypoplastic right ventricle. A clinical embryological study by Fröber, R, Kohoutek, T, Kähler, C, Beensen, V, Hauschild, R, Schulze, E, Linss, W

“…An unusual case of pulmonary atresia with an aberrant karyotype of 46,XX,t(6;8)(p21.2;q11.2) is reported. Fetal ultrasonic examination at the 20th week of…”
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Tetrasomy 21 due to a de novo Robertsonian translocation t(14;21) and an additional free trisomy 21 by Liehr, T, Beensen, V, Starke, H, Hauschild, R, Hempell, E, Fritsche, V, Hoppe, C, Großwendt, G, Prechtel, M, Ziegler, M, Claussen, U, Von Eggeling, F

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Microdeletion 4p16.3 in three unrelated patients with Wolf-Hirschhorn syndrome by Dufke, A, Seidel, J, Schöning, M, Döbler-Neumann, M, Kelbova, C, Liehr, T, Beensen, V, Backsch, C, Klein-Vogler, U, Enders, H

“…Wolf-Hirschhorn syndrome (WHS) is a multiple malformation syndrome caused by partial monosomy of 4p16.3. Pitt-Rogers-Danks syndrome, first thought to be a…”
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Insulin-like growth factor serum concentrations reflect insufficient growth in a hypoplastic infant with partial trisomy 9q in the 12th week of life by Hübler, A, Seidel, J, Kauf, E, Schramm, D, Beensen, V, Heller, A, Liehr, T, Zintl, F

“…This report presents changes of IGFs and IGFBPs in a female infant with partial trisomy 9q in the 12th week of life. Studying deficient growth in this…”
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Mosaic chromosomal aberrations in synovial fibroblasts of patients with rheumatoid arthritis, osteoarthritis, and other inflammatory joint diseases by Kinne, R W, Liehr, T, Beensen, V, Kunisch, E, Zimmermann, T, Holland, H, Pfeiffer, R, Stahl, H D, Lungershausen, W, Hein, G, Roth, A, Emmrich, F, Claussen, U, Froster, U G

“…Chromosomal aberrations were comparatively assessed in nuclei extracted from synovial tissue, primary-culture (P-0) synovial cells, and early-passage synovial…”
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Synovial fibroblasts and synovial macrophages from patients with rheumatoid arthritis and other inflammatory joint diseases show chromosomal aberrations by Kinne, Raimund W., Kunisch, Elke, Beensen, Volkmar, Zimmermann, Thomas, Emmrich, Frank, Petrow, Peter, Lungershausen, Wolfgang, Hein, Gert, Braun, Rudolf K., Foerster, Martin, Kroegel, Claus, Winter, Rando, Liesaus, Eckehard, Fuhrmann, Renée A., Roth, Andreas, Claussen, Uwe, Liehr, Thomas

“…Chromosomal aberrations were investigated in nuclei extracted from synovial tissue and first‐passage synovial fibroblasts (P‐1 SFB, 98% enrichment) or…”
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Differential effects of treatment with UV-light (365 nm) and 8-methoxypsoralen on chromosomes of healthy persons and psoriatic patients by Löber, G, Kittler, L, Beensen, V, Schaarschmidt, H, Knopf, B

“…The effect of 8-methoxypsoralen (8-MOP, 5 X 10(-5) M), near UV-light of 365 wavelength (UVA, 1.5 J/cm2) and the combination of both (PUVA treatment) were…”
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Differential effects of PUVA treatment on chromosomes of healthy persons and psoriatic patients. In vitro and in vivo results by Löber, G, Bach, H, Beensen, V, Kittler, L, Schaarschmidt, H, Knopf, B

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Molecular cytogenetic characterization of a prenatally detected supernumerary minute marker chromosome 8 by Starke, Heike, Schreyer, Isolde, Kähler, Christine, Fiedler, Wolfgang, Beensen, Volkmar, Heller, Anita, Nietzel, Angela, Claussen, Uwe, Liehr, Thomas

“…The characterization of a prenatally detected very small (approximately half of 18p—(karyotype: 47,XX,+mar[16]/46,XX[7]) supernumerary marker chromosome (SMC)…”
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Pitfalls of rapid prenatal diagnosis using the interphase nucleus by Liehr, Thomas, Beensen, Volkmar, Hauschild, Rüdiger, Ziegler, Monika, Hartmann, Isabell, Starke, Heike, Heller, Anita, Kähler, Christine, Schmidt, Matthias, Reiber, Wolfgang, Hesse, Martin, Claussen, Uwe

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Translocation trisomy dup(21q) and free trisomy 21 can be distinguished by interphase-FISH by Liehr, T, Starke, H, Beensen, V, Kähler, C, Harbich, M, Brude, E, Ziegler, M, Claussen, U

“…The possibility of distinguishing in routine diagnostics translocation trisomy dup(21q) from disomy 21 as well as from free trisomy 21 using interphase…”
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Fetal cyclopia with deletion 46,XX,del (7) (q32-->qter), prenatal diagnosis and genetic counseling by Hauschild, R, Beensen, V, Schulze, E, Gross, W

“…A pregnancy at 19./20. weeks of gestation with signs of cyclopia by ultrasonography is described. A long arm deletion of chromosome 7 was found by prenatal…”
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Complete trisomy 22 by Wollina, K, Seidel, J, Kirchner, M, Beensen, V, Kelbova, C

“…In a 2 6/12-years-old girl a complete trisomy 22 was verified with the G-banding (CTG-technique). She presented with Pierre-Robin-Sequence, cardiac and renal…”
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