Molecular Cytogenetics

Titel Veröffentlichungsdatum Sprache Zitate
Unexpected structural complexity of supernumerary marker chromosomes characterized by microarray comparative genomic hybridization2008/01/01English19
A new patient with a terminal de novo 2p25.3 deletion of 1.9 Mb associated with early-onset of obesity, intellectual disabilities and hyperkinetic disorder2014/01/01English19
MECP2 duplication phenotype in symptomatic females: report of three further cases2014/01/01English19
6p22.3 deletion: report of a patient with autism, severe intellectual disability and electroencephalographic anomalies2013/01/01English19
Juxtaposition of heterochromatic and euchromatic regions by chromosomal translocation mediates a heterochromatic long-range position effect associated with a severe neurological phenotype2012/01/01English18
Short stature, digit anomalies and dysmorphic facial features are associated with the duplication of miR-17 ~ 92 cluster2014/01/01English18
Frequent detection of parental consanguinity in children with developmental disorders by a combined CGH and SNP microarray2013/01/01English18
An evaluation of SOX2 and hTERC gene amplifications as screening markers in oral and oropharyngeal squamous cell carcinomas2014/01/01English17
Molecular cytogenetic analysis of Xq critical regions in premature ovarian failure2013/01/01English17
Identification of prognostic relevant chromosomal abnormalities in chronic lymphocytic leukemia using microarray-based genomic profiling2014/01/01English16
Low grade mosaic for a complex supernumerary ring chromosome 18 in an adult patient with multiple congenital anomalies2010/01/01English16
The use of array-CGH in a cohort of Greek children with developmental delay2010/01/01English15
Mosaic 22q11.2 microdeletion syndrome: diagnosis and clinical manifestations of two cases2008/01/01English15
A novel unbalanced de novo translocation der(5)t(4;5)(q26;q21.1) in adult T-cell precursor lymphoblastic leukemia2012/01/01English15
Double Xp11.22 deletion including SHROOM4 and CLCN5 associated with severe psychomotor retardation and Dent disease2015/01/01English14
BCR-JAK2 fusion as a result of a translocation (9;22)(p24;q11.2) in a patient with CML-like myeloproliferative disease2012/01/01English13
A new case of de novo 19p13.2p13.12 deletion in a girl with overgrowth and severe developmental delay2014/01/01English13
De novo 2.3 Mb microdeletion of 1q32.2 involving the Van der Woude Syndrome locus2013/01/01English13
Cytogenetic analysis in the neotropical fish Astyanax goyacensis Eigenmann, 1908 (Characidae, incertae sedis): karyotype description and occurrence of B microchromosomes2013/01/01English13
Genomic amplification of BCR/ABL1 and a region downstream of ABL1 in chronic myeloid leukaemia: a FISH mapping study of CML patients and cell lines2010/01/01English12
Germ-line transmission of trisomy 21: Data from 80 families suggest an implication of grandmaternal age and a high frequency of female-specific trisomy rescue2010/01/01English12
Partial trisomy 9p22 to 9p24.2 in combination with partial monosomy 9pter in a Syrian girl2010/01/01English12
Genome profiling of ovarian adenocarcinomas using pangenomic BACs microarray comparative genomic hybridization2008/01/01English12
Novel complex translocation involving 5 different chromosomes in a chronic myeloid leukemia with Philadelphia chromosome: a case report2009/01/01English12
Derivative chromosome 1 and GLUT1 deficiency syndrome in a sibling pair2010/01/01English12
Surface-spreading technique of meiotic cells and immunodetection of synaptonemal complex proteins in teleostean fishes2015/01/01English12
Generation of multicolor banding probes for chromosomes of different species2013/01/01English11
Characterization of a complex rearrangement involving duplication and deletion of 9p in an infant with craniofacial dysmorphism and cardiac anomalies2012/01/01English11
Chromosomal Aberrations in ETV6/RUNX1-positive Childhood Acute Lymphoblastic Leukemia using 244K Oligonucleotide Array Comparative Genomic Hybridization2012/01/01English11
In memoriam: Prof. Dr. rer. nat. Dr. med. h.c. Lore Zech; 24.9.1923 – 13.3.2013: Honorary member of the European Society of Human Genetics, Honorary member of the German Society of Human Genetics, Doctor laureate, the University of Kiel, Germany2013/01/01English11