Search Results - "Mrasek, K"

Clinical impact of somatic mosaicism in cases with small supernumerary marker chromosomes by Liehr, T, Klein, E, Mrasek, K, Kosyakova, N, Guilherme, R S, Aust, N, Venner, C, Weise, A, Hamid, A B

“…Somatic mosaicism is present in slightly more than 50% of small supernumerary marker chromosome (sSMC) carriers. Interestingly, non-acrocentric derived sSMC…”
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Small supernumerary marker chromosomes--progress towards a genotype-phenotype correlation by Liehr, T, Mrasek, K, Weise, A, Dufke, A, Rodríguez, L, Martínez Guardia, N, Sanchís, A, Vermeesch, J R, Ramel, C, Polityko, A, Haas, O A, Anderson, J, Claussen, U, von Eggeling, F, Starke, H

“…Small supernumerary marker chromosomes (sSMC) are still a major problem in clinical cytogenetics as they are too small to be characterized for their…”
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Centromere-specific multicolour fluorescence in situ hybridization on human spermatocyte I and II metaphases by Uroz, L., Liehr, T., Mrasek, K., Templado, C.

“…BACKGROUND Most meiotic studies in metaphase spermatocytes have been carried out with classic cytogenetic techniques. The aim of this work was to adjust the…”
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An HDAC1-binding domain within FATS bridges p21 turnover to radiation-induced tumorigenesis by Li, Z, Zhang, Q, Mao, J-H, Weise, A, Mrasek, K, Fan, X, Zhang, X, Liehr, T, Lu, K H, Balmain, A, Cai, W-W

“…There is a gap between the initial formation of cells carrying radiation-induced genetic damage and their contribution to cancer development. Herein, we reveal…”
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Inverted segment size and the presence of recombination hot spot clusters matter in sperm segregation analysis by Bhatt, S S, Manvelyan, M, Moradkhani, K, Hunstig, F, Mrasek, K, Puechberty, J, Lefort, G, Sarda, P, Weise, A, Liehr, T, Pellestor, F

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Shared Copy Number Variation in Simultaneous Nephroblastoma and Neuroblastoma due to Fanconi Anemia by Serra, A., Eirich, K., Winkler, A.K., Mrasek, K., Göhring, G., Barbi, G., Cario, H., Schlegelberger, B., Royer-Pokora, B., Liehr, T., Leriche, C., Henne-Bruns, D., Barth, T.F., Schindler, D.

“…Concurrent emergence of nephroblastoma (Wilms Tumor; WT) and neuroblastoma (NB) is rare and mostly observed in patients with severe subtypes of Fanconi anemia…”
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A report of pure 7p duplication syndrome and review of the literature by Papadopoulou, E., Sifakis, S., Sarri, C., Gyftodimou, J., Liehr, T., Mrasek, K., Kalmanti, M., Petersen, M.B.

“…We report on a case of a 9‐month‐old female infant with a direct duplication of the 7p13‐p22.1 chromosome region diagnosed by combining conventional…”
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Parental-origin-determination fluorescence in situ hybridization distinguishes homologous human chromosomes on a single-cell level by Weise, A, Gross, M, Mrasek, K, Mkrtchyan, H, Horsthemke, B, Jonsrud, C, Von Eggeling, F, Hinreiner, S, Witthuhn, V, Claussen, U, Liehr, T

“…The differentiation of homologous chromosomes as well as their parental origin can presently be conducted and determined exclusively by molecular genetic…”
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Multicolor fluorescence in situ hybridization (FISH) applied to FISH-banding by Liehr, T, Starke, H, Heller, A, Kosyakova, N, Mrasek, K, Gross, M, Karst, C, Steinhaeuser, U, Hunstig, F, Fickelscher, I, Kuechler, A, Trifonov, V, Romanenko, S A, Weise, A

“…During the last decade not only multicolor fluorescence in situ hybridization (FISH) using whole chromosome paints as probes, but also numerous chromosome…”
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Distal partial trisomy 1q: report of two cases and a review of the literature by Utine, G. E., Aktas, D., Alanay, Y., Gücer, S., Tuncbilek, E., Mrasek, K., Liehr, T.

“…We report on two cases with partial trisomy 1q syndrome. One case was a mid‐trimester fetus with multiple malformations that was prenatally diagnosed with a de…”
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Is there a yet unreported unbalanced chromosomal abnormality without phenotypic consequences in proximal 4p? by Liehr, T, Bartels, I, Zoll, B, Ewers, E, Mrasek, K, Kosyakova, N, Merkas, M, Hamid, A B, von Eggeling, F, Posorski, N, Weise, A

“…Unbalanced chromosomal abnormalities (UBCA) are reported for >50 euchromatic regions of almost all human autosomes. UBCA are comprised of a few megabases of…”
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Small supernumerary chromosome marker generating complete and pure trisomy 18p, characterized by molecular cytogenetic techniques and review by Rodríguez, L., Liehr, T., Mrasek, K., Mansilla, E., Martínez‐Fernández, M.L., Garcia, A., Martínez‐Frías, M.L.

“…Small supernumerary marker chromosomes (sSMC) have been described from all human chromosomes with different sizes and shapes. However, it is difficult to know…”
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Neocentric small supernumerary marker chromosomes (sSMC)--three more cases and review of the literature by Liehr, T, Utine, G E, Trautmann, U, Rauch, A, Kuechler, A, Pietrzak, J, Pietracz, J, Bocian, E, Kosyakova, N, Mrasek, K, Boduroglu, K, Weise, A, Aktas, D

“…Here we report on three new patients with neocentric small supernumerary marker chromosomes (sSMC) derived from chromosome 2, 13 and 15, respectively. The…”
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Evidence for Correlation of Fragile Sites and Chromosomal Breakpoints in Carriers of Constitutional Balanced Chromosomal Rearrangements by Liehr, T, Kosayakova, N, Schröder, J, Ziegler, M, Kreskowski, K, Pohle, B, Bhatt, S, Theuss, L, Wilhelm, K, Weise, A, Mrasek, K

“…A molecular cytogenetic study of 251 cases with balanced chromosomal rearrangements detected due to infertility of unclear origin or in prenatal diagnostics…”
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Breakpoint characterization: a new approach for segregation analysis of paracentric inversion in human sperm by Bhatt, S., Moradkhani, K., Mrasek, K., Puechberty, J., Lefort, G., Lespinasse, J., Sarda, P., Liehr, T., Hamamah, S., Pellestor, F.

“…Paracentric inversions (PAI) are structural chromosomal rearrangements generally considered to be harmless. Nevertheless, cases of viable recombinants have…”
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10p11.2 to 10q11.2 is a yet unreported region leading to unbalanced chromosomal abnormalities without phenotypic consequences by Liehr, T, Stumm, M, Wegner, R D, Bhatt, S, Hickmann, P, Patsalis, P C, Meins, M, Morlot, S, Klaschka, V, Ewers, E, Hinreiner, S, Mrasek, K, Kosyakova, N, Cai, W W, Cheung, S W, Weise, A

“…Directly transmitted unbalanced chromosomal abnormalities (UBCA) or euchromatic variants (EV) were recently reported for >50 euchromatic regions of almost all…”
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New insights into the evolution of chromosome 1 by Weise, A, Starke, H, Mrasek, K, Claussen, U, Liehr, T

“…A complex low-repetitive human DNA probe (BAC RP11-35B4) together with two microdissection-derived region-specific probes of the multicolor banding (MCB)…”
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Forty-eight new cases with infertility due to balanced chromosomal rearrangements: Detailed molecular cytogenetic analysis of the 90 involved breakpoints by Manvelyan, M, Schreyer, I, Höls-Herpertz, I, Köhler, S, Niemann, R, Hehr, U, Belitz, B, Bartels, I, Götz, J, Huhle, D, Kossakiewicz, M, Tittelbach, H, Neubauer, S, Polityko, A, Mazauric, M.-L, Wegner, R, Stumm, M, Küpferling, P, Süss, F, Kunze, H, Weise, A, Liehr, T, Mrasek, K

“…A molecular cytogenetic study was performed on 48 infertile patients who were identified as carriers of balanced translocations (40 cases), inversions (6…”
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Reconstruction of the female Gorilla gorilla karyotype using 25-color FISH and multicolor banding (MCB) by Mrasek, K, Heller, A, Rubtsov, N, Trifonov, V, Starke, H, Rocchi, M, Claussen, U, Liehr, T

“…The origin of the human and great ape chromosomes has been studied by comparative chromosome banding analysis and, more recently, by fluorescence in situ…”
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Small supernumerary marker chromosomes (sSMC) in patients with a 45,X/46,X,+mar karyotype - 17 new cases and a review of the literature by Liehr, T, Mrasek, K, Hinreiner, S, Reich, D, Ewers, E, Bartels, I, Seidel, J, Emmanuil, N, Petesen, M, Polityko, A, Dufke, A, Iourov, I, Trifonov, V, Vermeesch, J, Weise, A

“…Small supernumerary marker chromosomes (sSMC) can appear in a numerically normal 'basic karyotype', but also in a numerically abnormal one like a Turner…”
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