Publikationen 2011

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Weimer J*, Heidemann S*, von Kaisenberg CS, Grote W, Arnold N, Caliebe A: Isolated trisomy 7q21.3-31.3 resulting from a complex familial rearrangement involving chromosomes 7, 9 and 10. * both authors contributed equally to this work. Accepted for publication in Mol Cytogenet. 2011

Eckmann-Scholz C. Mallek J, v. Kaisenberg C, Arnold N, Jonat W, Siebert R, Caliebe A, and Heidemann S: Chromosomal mosaicisms in prenatal diagnosis: Correlation with first trimester screening and clinical outcome. Accepted for publication in Prenat Diagnos 2011.

Fischer C, Engel C, Sutter C, Zachariae S, Schmutzler R, Meindl A, Heidemann S, Grimm T, Goecke TO, Debatin I, Horn D, Wieacker P, Gadzicki D, Becker K, Schäfer D, Stock F, Voigtländer T on behalf of the German Consortium for Hereditary Breast and Ovarian Cancer: BRCA1/2 testing: uptake, phenocopies, and strategies to improve detection rates in initially negative families. Clinical Genetics, 2011. Sep 15. [Epub ahead of print].

Cerchietti L, Damm-Welk C, Vater I, Klapper W, Harder L, Pott C, Yang SN, Reiter A, Siebert R, Melnick A, Woessmann W: Inhibition of Anaplastic Lymphoma Kinase (ALK) Activity Provides a Therapeutic Approach for CLTC-ALK-Positive Human Diffuse Large B Cell Lymphomas. PLoS One 6:e18436 (2011).

Szaumkessel M, Richter J, Giefing M, Jarmuz M, Kiwerska K, Tönnies H, Grenman R, Heidemann S, Szyfter K, Siebert R: Pyrosequencing-based DNA methylation profiling of Fanconi anemia/BRCA pathway genes in laryngeal squamous cell carcinoma. Int J Oncol 39(2):505-14 (2011).

Heidemann S und Schillhorn K: Implikationen des Gendiagnostikgesetzes (GenDG) für die Laboratoriumsmedizin (Implications of the German Human Genetic Examination Act on laboratory medicine) J Lab Med;35(5):233–241(2011).

Bartsch O, Schindler D, Beyer V, Gesk S, Van’t Slot R, Feddersen I, Buijs A, Jaspers NG, Siebert R, Haaf T, Poot M. A girl with an atypical form of ataxia telangiectasia and an additional de novo 3.14Mb microduplication in region 19q12. Eur J Med Genet. 2011 Aug 27. [Epub ahead of print].

Beltran E, Fresquet V, Martinez-Useros J, Richter-Larrea JA, Sagardoy A, Sesma I, Almada LL, Montes-Moreno S, Siebert R, Gesk S, Calasanz MJ, Malumbres R, Rieger M, Prosper F, Lossos IS, Piris MA, Fernandez-Zapico ME, Martinez-Climent JA. A cyclin-D1 interaction with BAX underlies its oncogenic role and potential as a therapeutic target in mantle cell lymphoma. Proc Natl Acad Sci U S A. Jul 26;108(30):12461-6 (2011).

Caliebe A, Martin Subero JI, Muhle H, Gesk S, Jänig U, Krause M, Plendl H, Stephani U, Siebert R, Eckmann-Scholz C. A 2 Mb deletion in 14q13 associated with severe developmental delay and hemophagocytic lymphohistiocytosis. Eur J Med Genet.; 54(5) (2011).

Walz C, Erben P, Ritter M, Bloor A, Metzgeroth G, Telford N, Haferlach C, Haferlach T, Gesk S, Score J, Hofmann WK, Hochhaus A, Cross NC, Reiter A. Blood. Response of ETV6-FLT3-positive myeloid/lymphoid neoplasm with eosinophilia to inhibitors of FMS-like tyrosine kinase 3. Blood;118(8):2239-42 (2011).

Hasselblatt M, Gesk S, Oyen F, Rossi S, Viscardi E, Giangaspero F, Giannini C, Judkins AR, Frühwald MC, Obser T, Schneppenheim R, Siebert R, Paulus W. Nonsense mutation and inactivation of SMARCA4 (BRG1) in an atypical teratoid/rhabdoid tumor showing retained SMARCB1 (INI1) expression. Am J Surg Pathol. Jun;35(6):933-5 (2011).

Salaverria I, Philipp C, Oschlies I, Kohler CW, Kreuz M, Szczepanowski M, Burkhardt B, Trautmann H, Gesk S, Andrusiewicz M, Berger H, Fey M, Harder L, Hasenclever D, Hummel M, Loeffler M, Mahn F, Martin-Guerrero I, Pellissery S, Pott C, Pfreundschuh M, Reiter A, Richter J, Rosolowski M, Schwaenen C, Stein H, Trümper L, Wessendorf S, Spang R, Küppers R, Klapper W, Siebert R.Translocations activating IRF4 identify a subtype of germinal-center-derived B-cell lymphoma affecting predominantly children and young adults. Blood, Jul 7;118(1):139-47 (2011).

Eckmann-Scholz C, Tönnies H, Liehr T, Gesk S, Jonat W, Caliebe A. Normal prenatal ultrasound findings in a case with de novo mosaic small supernumerary marker chromosome 18 – how to counsel? J Matern Fetal Neonatal Med. 2011 Apr 8 [Epub ahead of print].

Majid A, Richards T, Dusanjh P, Kennedy DB, Miall F, Gesk S, Siebert R, Wagner SD, Dyer MJ. TP53 codon 72 polymorphism in patients with chronic lymphocytic leukaemia: identification of a subgroup with mutated IGHV genes and poor clinical outcome. Br J Haematol. 153(4):533-5 (2011).

Dyer MJ, Majid A, Walewska R, Gesk S, Harder L, Siebert R, Morgan B. Splenic infarction associated with rapidly progressive chronic lymphocytic leukemia with complex karyotype and ATM mutation. Leuk Res. May;35(5):e55-7 (2011).

S. Gesk, R. Siebert, H. Tönnies, Molekularzytogenetik: Grundlagen und Anwendung für die Tumordiagnostik, in Onkologie, Grundlagen – Diagnostik – Therapie – Entwicklung, Hrsg. Prof. Dr. med. W.Jens Zeller, Prof. Dr. med. Harald zur Hausen, Onkologie, ecomed Medizin Verlag (2011).

Pepper C, Majid A, Lin TT, Hewamana S, Pratt G, Walewska R, Gesk S, Siebert R, Wagner S, Kennedy B, Miall F, Davis ZA, Tracy I, Gardiner AC, Brennan P, Hills RK, Dyer MJ, Oscier D, Fegan C: Defining the prognosis of early stage chronic lymphocytic leukaemia patients.Br J Haematol. 2012 Feb;156(4):499-507. doi: 10.1111/j.1365-2141.2011.08974.x. Epub 2011 Dec 15

Dittmann K, Przybylski GK, Grabarczyk P, Dölken G, Gesk S, Siebert R, Schmidt CA: Fast approach for clarification of chromosomal aberrations by using LM-PCR and FT-CGH in leukaemic sample.Acta Haematol. 2012;127(1):16-9. doi: 10.1159/000330519. Epub 2011 Oct 7.

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