Publikationen 2010

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Antonis CA, Beesley J, McGuffog L, Sinilnikova OM, Healey S, Neuhausen SL, Ding YC, Rebbeck TR, Weitzel JN, Lynch HT, Isaacs C, Ganz PA, Tomlinson G, Olopade OI, Couch FJ, Wang X, Lindor NM, Pankratz VS, Radice P, Manoukian S,Peissel B, Zaffaroni D, Barile M, Viel A, Allavena A, Dall’Olio V, Peterlongo P, Szabo CI, Zikan M, Claes K, Poppe B, Foretova L, Mai PL, Greene MH, Rennert G, Lejbkowicz F, Glendon, Ozcelik H, Andrulis IL for the Ontario Cancer Genetics Network, Thomassen M, Gerdes AM, Sunde L, Cruger D, Jensen UB, Caligo M, Friedman E, Kaufman B, Laitman Y, Milgrom R, Dubrovsky M, Cohen S, Borg A, Jernström J, Lindblom A, Rantala J, Stenmark-Askmalm M, Melin B for SWE-BRCA, Nathanson K, Domchek S, Jakubowska A, Lubinski J, Huzarski T, Osorio A, Lasa A, Duran M, Tejada MI, Godino J, Benitez J, Hamann U, Kriege M, Hoogerbrugge N, van der Luijt RB, van Asperen CJ, Devilee P, Meijers-Heijboer EJ, Blok MJ, Aalfs CM, Hogervorst F, Rookus M for HEBON, Cook M, Oliver C, Frost D, Conroy D, Evans DG, Lalloo F, Pichert G, Davidson R, Cole T, Cook J, Paterson J, Hodgson S, Morrison PJ, Porteous ME, Walker L, Kennedy MJ, Dorkins H, Peock S for EMBRACE, Godwin AK, Stoppa-Lyonnet D, de Pauw A, Mazoyer S, Bonadona V, Lasset C, Dreyfus H, Leroux D, Hardouin A, Berthet P, Faivre L for GEMO, Loustalot C, Noguchi T, Sobol H, Rouleau E, Nogues C, Frenay M, Venat-Bouvet L for GEMO, Hopper JL, Daly MB, Terry MB, John EM, Buys SS, Yassin Y, Miron A, Goldgar D for the Breast Cancer Family Registry, Singer CF, Dressler AC, Gschwantler-Kaulich D, Pfeiler G, Hansen TVO, Jnson L, Agnarsson BA, Kirchhoff T, Offit K, Devlin V, Dutra-Clarke A, Piedmonte M,. Rodriguez GC, Wakeley K, Boggess JF, Basil J, Schwartz PE, Blank SV, Toland EA, Montagna M, Casella C, Imyanitov E, Tihomirova L, Blanco I, Lazaro C, Ramus SJ, Sucheston L, Karlan BY, Gross Y, Schmutzler R, Wappenschmidt B, Engel C, Meindl A, Lochmann M, Arnold N, Heidemann S, Varon-Mateeva R, Niederacher D, Sutter C, Deissler H, Gadzicki D, Preisler-Adams S, Kast K, Schönbuchner I, Caldes Z, de la Hoya M, Aittomaki C, Nevanlinna H, Simard J, Spurdle AB, Holland H, Chen X for kConFab, Radka Platte, Chenevix-Trench G, and Easton DF on behalf of CIMBA: Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Implications for Risk Prediction. Cancer Res; 70:9742-9754 (2010).

Muhle H, Steinich I, von Spiczak S, Franke A, Weber Y, Lerche H, Wittig M, Heidemann S, Suls A, de Jonghe P, Marini C, Guerrini R, Scheffer IE, Berkovic SF, Stephani U, Siebert R, Sander T, Helbig I, Tönnies H: A duplication in 1q21.3 in a family with early-onset and childhood absence epilepsy. Epilepsia 51:2453-2456 (2010).

Sellmann L, Scholtysik R, Kreuz M, Cyrull S, Tiacci E, Stanelle J, Carpinteiro A, Nückel H, Boes T, Gesk S, Siebert R, Klein-Hitpass L, Dührsen U, Dürig J, Küppers R. Gene dosage effects in chronic lymphocytic leukemia. Cancer Genet Cytogenet. Dec;203(2):149-60 (2010).

Frohnauer J, Caliebe A, Gesk S, Partsch CJ, Siebert R, Pankau R, Jenderny J. No significantly increased frequency of the inversion polymorphism at the WBS-critical region 7q11.23 in German parents of patients with Williams-Beuren syndrome as compared to a population control. Mol Cytogenet. Nov 5;3:21 (2010).

Eckmann-Scholz C, Gesk S, Nagel I, Haake A, Bens S, Heidemann S, Kautza M, Timke C, Siebert R, Caliebe A. Conflicting results of prenatal FISH with different probes for Down’s Syndrome critical regions associated with mosaicism for a de novo del(21)(q22) characterised by molecular karyotyping: Case report. Mol Cytogenet. Sep 5;3:16 (2010).

Negahban S, Nagel I, Soleimanpour H, Aledavood A, Bagheri N, Paydar M, Daneshbod K, Hasselblatt M, Gesk S, Siebert R, Daneshbod Y. Prenatal presentation of a metastasizing rhabdoid tumor with homozygous deletion of the SMARCB1 gene. J Clin Oncol. Nov 20;28(33):e688-91 (2010).

Negahban S, Ahmadi N, Oryan A, Khojasteh HN, Aledavood A, Soleimanpour H, Mohammadianpanah M, Oschlies I, Gesk S, Siebert R, Daneshbod K, Daneshbod Y. Primary bilateral Burkitt lymphoma of the lactating breast: a case report and review of the literature. Mol Diagn Ther. Aug 1;14(4):243-50 (2010).

Przybylski GK, Dittmann K, Grabarczyk P, Dölken G, Gesk S, Harder L, Landmann E, Siebert R, Schmidt CA. Molecular characterization of a novel chromosomal translocation t(12;14)(q23;q11.2) in T-lymphoblastic lymphoma between the T cell receptor delta deleting elements (TRDREC and TRAJ61) and the hypothetical gene C12orf42. Eur J Haematol.. Nov;85(5):452-6 (2010).

Salido M, Baró C, Oscier D, Stamatopoulos K, Dierlamm J, Matutes E, Traverse-Glehen A, Berger F, Felman P, Thieblemont C, Gesk S, Athanasiadou A, Davis Z, Gardiner A, Milla F, Ferrer A, Mollejo M, Calasanz MJ, Florensa L, Espinet B, Luño E, Wlodarska I, Verhoef G, García-Granero M, Salar A, Papadaki T, Serrano S, Piris MA, Solé F. Cytogenetic aberrations and their prognostic value in a series of 330 splenic marginal zone B-cell lymphomas: a multicenter study of the Splenic B-Cell Lymphoma Group. Blood. Sep 2;116(9):1479-88 (2010).

Nagel I, Szczepanowski M, Martín-Subero JI, Harder L, Akasaka T, Ammerpohl O, Callet-Bauchu E, Gascoyne RD, Gesk S, Horsman D, Klapper W, Majid A, Martinez-Climent JA, Stilgenbauer S, Tönnies H, Dyer MJ, Siebert R. Deregulation of the telomerase reverse transcriptase (TERT) gene by chromosomal translocations in B-cell malignancies. Blood, Sep 2;116(9):1479-88 (2010).

Cario G, Zimmermann M, Romey R, Gesk S, Vater I, Harbott J, Schrauder A, Moericke A, Izraeli S, Akasaka T, Dyer MJ, Siebert R, Schrappe M, Stanulla M. Presence of the P2RY8-CRLF2 rearrangement is associated with a poor prognosis in non-high-risk precursor B-cell acute lymphoblastic leukemia in children treated according to the ALL-BFM 2000 protocol. Blood, Jul 1;115(26):5393-7 (2010).

Choi WW, Gesk S, Siebert R, Fu K. Chronic lymphocytic leukemia/small lymphocytic lymphoma with focal D-type cyclin expression in proliferation centers: A report of four cases. Leuk Res. Aug;34(8) (2010).

Schneppenheim R, Frühwald MC, Gesk S, Hasselblatt M, Jeibmann A, Kordes U, Kreuz M, Leuschner I, Martin Subero JI, Obser T, Oyen F, Vater I, Siebert R. Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome. Am J Hum Genet. Feb 12;86(2):279-84 (2010).

Heidemann S, Plendl H, Vater I, Gesk S, Exeler-Telker JR, Grote W, Siebert R, Caliebe A. Maternal uniparental disomy 15 in a fetus resulting from a balanced familial translocation t(2;15)(p11;q11.2). Prenat Diagn. Feb;30(2):183-5 (2010).

Caliebe A, Vater I, Plendl H, Gesk S, Siebert R, Cremer FW, Klein-Hitpass L. A 439 kb-sized homozygous deletion in 17p13.3 leading to biallelic loss of the ASPA as cause of Canavan disease detected by SNP-array analysis. Mol Genet Metab. Feb;99(2):184-5 (2010).

Kordes U, Gesk S, Frühwald MC, Graf N, Leuschner I, Hasselblatt M, Jeibmann A, Oyen F, Peters O, Pietsch T, Siebert R, Schneppenheim R. Clinical and molecular features in patients with atypical teratoid rhabdoid tumor or malignant rhabdoid tumor. Genes Chromosomes Cancer. Feb;49(2):176-81 (2010).

Hartmann S, Gesk S, Scholtysik R, Kreuz M, Bug S, Vater I, Döring C, Cogliatti S, Parrens M, Merlio JP, Kwiecinska A, Porwit A, Piccaluga PP, Pileri S, Hoefler G, Küppers R, Siebert R, Hansmann ML. High resolution SNP array genomic profiling of peripheral T cell lymphomas, not otherwise specified, identifies a subgroup with chromosomal aberrations affecting the REL locus. Br J Haematol. Feb;148(3):402-12 (2010).

Oschlies I, Salaverria I, Mahn F, Meinhardt A, Zimmermann M, Woessmann W, Burkhardt B, Gesk S, Krams M, Reiter A, Siebert R, Klapper W. Pediatric follicular lymphoma–a clinico-pathological study of a population-based series of patients treated within the Non-Hodgkin’s Lymphoma–Berlin-Frankfurt-Munster (NHL-BFM) multicenter trials. Haematologica. Feb;95(2):253-9 (2010).

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