Publications
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Publications
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2012
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Journal Article
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2p21 Deletions in hypotonia-cystinuria syndrome. European Journal of Medical Genetics, 55(10):561-563.
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DNA copy number alterations in central primitive neuroectodermal tumors and tumors of the pineal region: an international individual patient data meta-analysis. Journal of Neuro-Oncology, 109(2):415-423.
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Array-basierter Nachweis chromosomaler Aberrationen bei malignen Neoplasien. Medizinische Genetik, 24(2):114-122.
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arrayMap: A Reference Resource for Genomic Copy Number Imbalances in Human Malignancies. PLoS ONE, 7(5):e36944.
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Improved multiplex ligation-dependent probe amplification analysis identifies a deleterious PMS2 allele generated by recombination with crossover between PMS2 and PMS2CL. Genes, Chromosomes & Cancer, 51(9):819-831.
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Losses at chromosome 4q are associated with poor survival in operable ductal pancreatic adenocarcinoma. Pancreatology, 12(1):16-22.
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Molecular Karyotyping as a relevant diagnostic tool in children with growth retardation with Silver-Russell features. Journal of Pediatrics, 161(5):933-942.e1.
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2011
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Journal Article
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CDCOCA: A statistical method to define complexity dependence of co-occuring chromosomal aberrations. BMC Medical Genomics, 4:21.
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Silver-Russell patients showing a broad range of ICR1 and ICR2 hypomethylation in different tissues. Clinical Genetics, 80(1):83-88.
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2010
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Journal Article
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Chromosome 11p15 duplication in Silver-Russell syndrome due to a maternally inherited translocation t(11;15). American Journal of Medical Genetics. Part A, 152A(6):1484-1487.
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Identification of a 21q22 duplication in a Silver-Russell syndrome patient further narrows down the Down syndrome critical region. American Journal of Medical Genetics. Part A, 152A(2):356-359.
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MUC1 oncogene amplification correlates with protein overexpression in invasive breast carcinoma cells. Cancer Genetics and Cytogenetics, 201(2):102-110.
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Submicroscopic chromosomal imbalances in idiopathic Silver-Russell syndrome (SRS): the SRS phenotype overlaps with the 12q14 microdeletion syndrome. Journal of Medical Genetics, 47(5):356-360.
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Increased expression of cellular retinol-binding protein 1 in laryngeal squamous cell carcinoma. Journal of Cancer Research and Clinical Oncology, 136(6):931-938.
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2009
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Journal Article
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Inferring progression models for CGH data. Bioinformatics, 25(17):2208-2215.
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Quantifying cancer progression with conjunctive Bayesian networks. Bioinformatics, 25(21):2809-2815.
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Recurrent loss, but lack of mutations, of the SMARCB1 tumor suppressor gene in T-cell prolymphocytic leukemia with TCL1A-TCRAD juxtaposition. Cancer Genetics and Cytogenetics, 192(1):44-47.
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2008
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Journal Article
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A 10.7 Mb interstitial deletion of 13q21 without phenotypic effect defines a further non-pathogenic euchromatic variant.. American Journal of Medical Genetics. Part A, 146A(18):2417-2420.
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Comprehensive characterization of genomic aberrations in gangliogliomas by CGH, array-based CGH and interphase FISH. Brain Pathology, 18(3):326-337.
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Chromosomal changes characterize head and neck cancer with poor prognosis. Journal of Molecular Medicine, 86(12):1353-1365.
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2007
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Journal Article
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2006
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Journal Article
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ABCB1 over-expression and drug-efflux in acute lymphoblastic leukemia cell lines with t(17;19) and E2A-HLF expression. Pediatric Blood & Cancer, 47(6):757-764.
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Distance-based clustering of CGH data. Bioinformatics, 22(16):1971-1978.
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Online database and bioinformatics toolbox to support data mining in cancer cytogenetics. BioTechniques, 40(3):269-272.
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2005
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Journal Article
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Genetic losses in breast cancer: toward an integrated molecular cytogenetic map. Cancer Genetics and Cytogenetics, 160(2):141-151.
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Unequivocal delineation of clinicogenetic subgroups and development of a new model for improved outcome prediction in neuroblastoma. Journal of Clinical Oncology, 23(10):2280-2299.
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2002
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Journal Article
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Randomized study to evaluate the use of high-dose therapy as part of primary treatment for "aggressive" lymphoma. Journal of Clinical Oncology, 20(22):4413-4419.
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2001
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Journal Article
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Progenetix.net: an online repository for molecular cytogenetic aberration data. Bioinformatics, 17(12):1228-1229.
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Potential of chromosomal and matrix-based comparative genomic hybridization for molecular diagnostics in lymphomas. Annals of Hematology, 80(S 3):B35-B37.
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Book Section
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Comparative Genomic Hybridization for the Analysis of Leukemias and Lymphomas. In: Faguet, Guy B. Hematologic Malignancies Methods and Techniques. Switzerland: Springer, 43-64.
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2000
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Journal Article
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t(11;14)-positive mantle cell lymphomas exhibit complex karyotypes and share similarities with B-cell chronic lymphocytic leukemia. Genes, Chromosomes and Cancer, 27(3):285-294.
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1997
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Journal Article
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Analysis of genomic alterations in benign, atypical, and anaplastic meningiomas: toward a genetic model of meningioma progression.. Proceedings of the National Academy of Sciences of the United States of America (PNAS), 94(26):14719-14724.
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High-level DNA amplifications are common genetic aberrations in B-cell neoplasms. American Journal of Pathology, 151(2):335-342.
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1996
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Journal Article
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Chromosome imbalances in papillary renal cell carcinoma and first cytogenetic data of familial cases analyzed by comparative genomic hybridization. Cytogenetics and cell genetics, 75(1):17-21.
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1995
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Journal Article
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Identification of genetic imbalances in malignant lymphoma using comparative genomic hybridization. Stem Cells, 13(3):83-87.
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