Association of genomic imbalances with drug resistance and thermoresistance in human gastric carcinoma cellsTÖNNIES, Holger; POLAND, Julia; SINHA, Pranav et al.International journal of cancer. 2003, Vol 103, Num 6, pp 752-758, issn 0020-7136, 7 p.Article

Characterization of a supernumerary ring chromosome 1 mosaicism in two cell systems by molecular cytogenetic techniques and review of the literatureTÖNNIES, Holger; NEUMANN, Luitgard M; GRÜNEBERG, Berthild et al.American journal of medical genetics. 2003, Vol 121A, Num 2, pp 163-167, issn 0148-7299, 5 p.Article

Familial interstitial 570 kbp deletion of the UBE3A gene region causing Angelman syndrome but not Prader-Willi syndromeBÜRGER, Joachim; HORN, Denise; TÖNNIES, Holger et al.American journal of medical genetics. 2002, Vol 111, Num 3, pp 233-237, issn 0148-7299Article

De novo terminal deletion of chromosome 15q26.1 characterised by comparative genomic hybridisation and FISH with locus specific probesTÖNNIES, Holger; SCHULZE, Ilka; HENNIES, Hans-Christian et al.Journal of medical genetics. 2001, Vol 38, Num 9, pp 617-621, issn 0022-2593Article

Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28Mb deletion encompassing the TBX3 geneKLOPOCKI, Eva; NEUMANN, Luitgard M; TÖNNIES, Holger et al.European journal of human genetics. 2006, Vol 14, Num 12, pp 1274-1279, issn 1018-4813, 6 p.Article

Prenatal diagnosis and molecular cytogenetic characterisation of a small de novo interstitial duplication 16q11.2-q13TRIMBORN, Marc; WEGNER, Rolf-Dieter; TÖNNIES, Holger et al.Prenatal diagnosis. 2006, Vol 26, Num 3, pp 273-276, issn 0197-3851, 4 p.Article

Clonal chromosomal aberrations in bone marrow cells of Fanconi anemia patients: gains of the chromosomal segment 3q26q29 as an adverse risk factorTÖNNIES, Holger; HUBER, Stefanie; KÜHL, Jörn-Sven et al.Blood. 2003, Vol 101, Num 10, pp 3872-3874, issn 0006-4971, 3 p.Article

Symptoms of OTC deficiency but not DMD in a female carrier of an Xp21.1 deletion including the genes for dystrophin and OTCJAKUBICZKA, Sibylle; BETTECKEN, Thomas; MOHNIKE, Klaus et al.European journal of pediatrics. 2007, Vol 166, Num 7, pp 743-745, issn 0340-6199, 3 p.Article

CGH of microdissected Kaposi's sarcoma lesions reveals recurrent loss of chromosome Y in early and additional chromosomal changes in late tumour stagesPYAKUREL, Pawan; MONTAG, Ulrike; CASTANOS-VELEZ, Esmeralda et al.AIDS (London). 2006, Vol 20, Num 14, pp 1805-1812, issn 0269-9370, 8 p.Article

Possible Genetic Heterogeneity of Spinocerebellar Ataxia Linked to Chromosome 15WEISSBACH, Anne; DJARMATI, Ana; PETROVIC, Igor et al.Movement disorders. 2010, Vol 25, Num 11, pp 1577-1582, issn 0885-3185, 6 p.Article

A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGHKLOPOCKI, Eva; GRAUL-NEUMANN, Luitgard M; GRIEBEN, Ulrike et al.European journal of pediatrics. 2008, Vol 167, Num 8, pp 903-908, issn 0340-6199, 6 p.Article

Molecular cytogenetic characterisation of an interstitial deletion 12p detected by prenatal diagnosisSTUMM, Markus; KLOPOCKI, Eva; GASIOREK-WIENS, Adam et al.Prenatal diagnosis. 2007, Vol 27, Num 5, pp 475-478, issn 0197-3851, 4 p.Article

Nijmegen breakage syndrome (NBS) due to maternal isodisomy of chromosome 8VARON, Raymonda; MÜER, Annika; KROISEL, Peter M et al.American journal of medical genetics. Part A. 2007, Vol 143, Num 1, pp 92-94, issn 1552-4825, 3 p.Article

Acrofacial dysostosis (AFD) with preaxial limb hypoplasia (nager AFD) and club foot diagnosed in a fetus from 1812 in the anatomical collections at the University of Halle, GermanyGÖBBEL, Luminita; SCHULTKA, Riidiger; KLUNKER, Rudyard et al.American journal of medical genetics. 2005, Vol 137A, Num 3, pp 263-268, issn 0148-7299, 6 p.Article

Genomic aberrations and survival in cutaneous T cell lymphomasFISCHER, Tanja C; GELLRICH, Sylke; MUCHE, J. Marcus et al.Journal of investigative dermatology. 2004, Vol 122, Num 3, pp 579-586, issn 0022-202X, 8 p.Article

Genotype/phenotype analysis in a patient with pure and complete trisomy 12pZUMKELLER, Walter; VOLLETH, Marianne; MUSCHKE, Petra et al.American journal of medical genetics. 2004, Vol 129A, Num 3, pp 261-264, issn 0148-7299, 4 p.Article

Pyrosequencing-based DNA methylation profiling of Fanconi anemia/BRCA pathway genes in laryngeal squamous cell carcinomaSZAUMKESSEL, Marcin; RICHTER, Julia; GIEFING, Maciej et al.International journal of oncology. 2011, Vol 39, Num 2, pp 505-514, issn 1019-6439, 10 p.Article

Deregulation of the telomerase reverse transcriptase (TERT) gene by chromosomal translocations in B-cell malignanciesNAGEL, Inga; SZCZEPANOWSKI, Monika; KLAPPER, Wolfram et al.Blood. 2010, Vol 116, Num 8, pp 1317-1320, issn 0006-4971, 4 p.Article

Deregulated expression of cytokine receptor gene, CRLF2, is involved in lymphoid transformation in B-cell precursor acute lymphoblastic leukemiaRUSSELL, Lisa J; CAPASSO, Melania; GUTTERY, David S et al.Blood. 2009, Vol 114, Num 13, pp 2688-2698, issn 0006-4971, 11 p.Article

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypesENDELE, Sabine; ROSENBERGER, Georg; HELLENBROICH, Yorck et al.Nature genetics. 2010, Vol 42, Num 11, pp 1021-1026, issn 1061-4036, 6 p.Article

A duplication in Iq21.3 in a family with early onset and childhood absence epilepsyMUHLE, Hiltrud; STEINICH, Ines; MARINI, Carla et al.Epilepsia (Copenhagen). 2010, Vol 51, Num 12, pp 2453-2456, issn 0013-9580, 4 p.Article

Nuchal cystic hygroma in five fetuses from 1819 to 1826 in the meckel-anatomical collections at the University of Halle, GermanyGÖBBEL, Luminita; SCHULTKA, Rüdiger; KLUNKER, Rudyard et al.American journal of medical genetics. Part A. 2007, Vol 143, Num 2, pp 119-128, issn 1552-4825, 10 p.Article

Short stature homeobox-containing gene deletion screening by fluorescence in situ hybridisation in patients with short statureMÜSEBECK, Jörg; MOHNIKE, Klaus; BEYE, Petra et al.European journal of pediatrics. 2001, Vol 160, Num 9, pp 561-565, issn 0340-6199Article

Deletions in 16p13 including GRIN2A in patients with intellectual disability, various dysmorphic features, and seizure disorders of the rolandic regionREUTLINGER, Constanze; HELBIG, Ingo; STEFANOVA, Irina et al.Epilepsia (Copenhagen). 2010, Vol 51, Num 9, pp 1870-1873, issn 0013-9580, 4 p.Article

A novel 8 Mb interstitial deletion of chromosome 8p12-p21.2KLOPOCKI, Eva; FIEBIG, Britta; ROBINSON, Peter et al.American journal of medical genetics. Part A. 2006, Vol 140, Num 8, pp 873-877, issn 1552-4825, 5 p.Article