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  1. Article

    Open Access

    A piggyBac-based platform for genome editing and clonal rhesus macaque iPSC line derivation

    Non-human primates (NHPs) are, due to their close phylogenetic relationship to humans, excellent animal models to study clinically relevant mutations. However, the toolbox for the genetic modification of NHPs ...

    Ignacio Rodriguez-Polo, Sophie Mißbach, Stoyan Petkov, Felix Mattern… in Scientific Reports (2021)

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  2. Article

    Open Access

    Down syndrome phenotype in a boy with a mosaic microduplication of chromosome 21q22

    Down syndrome, typically caused by trisomy 21, may also be associated by duplications of the Down syndrome critical region (DSCR) on chromosome 21q22. However, patients with small duplications of DSCR without ...

    Franziska Schnabel, Mateja Smogavec, Rudolf Funke, Silke Pauli… in Molecular Cytogenetics (2018)

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  3. Article

    Open Access

    De novo duplication of chromosome 16p in a female infant with signs of neonatal hemochromatosis

    Reported cases of “pure” duplication of the entire short arm of chromosome 16 (16p) are rare, with only 7 patients described in the literature. We report on a female infant with de novo 16p duplication localiz...

    Eva Maria Christina Schwaibold, Iris Bartels, Helmut Küster… in Molecular Cytogenetics (2014)

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  4. Article

    Open Access

    Identification of subtelomeric genomic imbalances and breakpoint map** with quantitative PCR in 296 individuals with congenital defects and/or mental retardation

    Submicroscopic imbalances in the subtelomeric regions of the chromosomes are considered to play an important role in the aetiology of mental retardation (MR). The aim of the study was to evaluate a quantitativ...

    Bernd Auber, Verena Bruemmer, Barbara Zoll, Peter Burfeind… in Molecular Cytogenetics (2009)

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  5. No Access

    Reference Work Entry In depth

    Jacobsen Syndrome

    Iris Bartels in Encyclopedia of Molecular Mechanisms of Disease (2009)

  6. No Access

    Article

    Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification

    Small supernumerary marker chromosomes (SMCs) are present in about 0.05% of the human population. In approximately 30% of SMC carriers (excluding the ~60% SMC derived from one of the acrocentric chromosomes), ...

    Heike Starke, Angela Nietzel, Anja Weise, Anita Heller, Kristin Mrasek… in Human Genetics (2003)

  7. No Access

    Chapter

    Peripheral Blood

    Peripheral blood is the most easily available tissue for postnatal chromosome analysis. Metaphase preparations are finished after two or three days. Though blood does not normally contain spontaneously dividin...

    Iris Bartels in Diagnostic Cytogenetics (1999)

  8. No Access

    Article

    Maternal levels of pregnancy-specific β1 (SP-1) are elevated in pregnancies affected by Down's syndrome

    Concentrations of pregnancy-specific β1-glycoprotein (SP-1) were measured in maternal blood and amniotic fluid of patients with a trisomic fetus and compared with that of a cytogenetically normal fetus at weeks 1...

    Iris Bartels, Andrea Lindemann in Human Genetics (1988)

  9. No Access

    Article

    Chromosome segregation at meiosis I in female T(2;4)1Gö/+ mice: no evidence for a decreased crossover frequency with maternal age

    The influence of age and hormones on chromosome segregation at meiosis I was studied in female mice heterozygous for the T(2;4)1Gö translocation. Females of two age groups (18–22 and 40–56 weeks old) were stim...

    Friedrich Beermann, Iris Bartels, Ulrich Franke, Ingo Hansmann in Chromosoma (1987)

  10. No Access

    Article

    Prenatal diagnosis of genetic disease by chorionic villi sampling

    Chorionic villi sampling at week 9–11 of gestation is increasingly applied as a new method in prenatal diagnosis of genetic disorders. Cytogenetical, biochemical or recombinant DNA methods have been used succe...

    Iris Bartels, Ingo Hansmann in The Indian Journal of Pediatrics (1986)

  11. No Access

    Article

    Cytogenetic analysis of early human abortuses after preparation of chromosomes directly from chorionic villi

    I. Hansmann, Iris Bartels, Ingrid Schübbe in Human Genetics (1986)

  12. No Access

    Chapter

    Mechanisms of Nondisjunction: Facts and Perspectives

    An ordered segregation requires distinct processes of differentiation within the germ cell for recognition and segregation of homologous chromosomes/chromatids. These include synchronous maturation of the nucl...

    I. Hansmann, Iris Bartels, F. Beermann, Doris Caspari, U. Franke… in Aneuploidy (1985)

  13. No Access

    Article

    Mean corpuscular hemoglobin is increased in Martin-Bell syndrome

    Studying the blood picture of 11 patients with Martin-Bell syndrome, we found the erythrocytes relatively hyperchromic when compared to the data from 171 matched controls living in the same institution. Becaus...

    U. Langenbeck, J. Schmidtke, Iris Bartels, I. Hansmann, H. Knüppel in Human Genetics (1984)