Search Results - (Author, Cooperation:B. D. Young)
-
1Latest Papers from Table of Contents or Articles in PressY. Li ; C. Schwab ; S. L. Ryan ; E. Papaemmanuil ; H. M. Robinson ; P. Jacobs ; A. V. Moorman ; S. Dyer ; J. Borrow ; M. Griffiths ; N. A. Heerema ; A. J. Carroll ; P. Talley ; N. Bown ; N. Telford ; F. M. Ross ; L. Gaunt ; R. J. McNally ; B. D. Young ; P. Sinclair ; V. Rand ; M. R. Teixeira ; O. Joseph ; B. Robinson ; M. Maddison ; N. Dastugue ; P. Vandenberghe ; C. Haferlach ; P. J. Stephens ; J. Cheng ; P. Van Loo ; M. R. Stratton ; P. J. Campbell ; C. J. Harrison
Nature Publishing Group (NPG)
Published 2014Staff ViewPublication Date: 2014-03-29Publisher: Nature Publishing Group (NPG)Print ISSN: 0028-0836Electronic ISSN: 1476-4687Topics: BiologyChemistry and PharmacologyMedicineNatural Sciences in GeneralPhysicsKeywords: Chromatids/genetics ; *Chromosome Aberrations ; Chromosome Breakage ; Chromosomes, Human, Pair 15/genetics ; Chromosomes, Human, Pair 21/*genetics ; DNA Copy Number Variations/genetics ; Humans ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/*genetics ; Recombination, Genetic/genetics ; Translocation, Genetic/geneticsPublished by: -
2Latest Papers from Table of Contents or Articles in PressM. L. Reaves ; B. D. Young ; A. M. Hosios ; Y. F. Xu ; J. D. Rabinowitz
Nature Publishing Group (NPG)
Published 2013Staff ViewPublication Date: 2013-08-02Publisher: Nature Publishing Group (NPG)Print ISSN: 0028-0836Electronic ISSN: 1476-4687Topics: BiologyChemistry and PharmacologyMedicineNatural Sciences in GeneralPhysicsKeywords: Carbon/metabolism ; Escherichia coli/enzymology/genetics/*metabolism ; Escherichia coli Proteins/genetics/metabolism ; Gene Expression Regulation, Enzymologic ; Genes, Suppressor ; *Homeostasis ; Nucleoside-Phosphate Kinase/metabolism ; Pyrimidines/biosynthesis/*metabolism ; Transferases/genetics/metabolism ; Uracil/metabolism ; Uridine Monophosphate/metabolismPublished by: -
3Articles: DFG German National LicensesStaff View
ISSN: 1432-1203Source: Springer Online Journal Archives 1860-2000Topics: BiologyMedicineNotes: Summary Chromosomes from the mother, father, and child of nine families were stained with ethidium bromide and analysed in flow. These flow karyotypes on average resolved separately the homologues of 4.8 of the offspring's chromosomes. A homologue's relative DNA content (calculated from the flow karyotype) was found to be an accurate marker which could be used to trace that chromosome in a family. In this way the parental origin of 74.4% of the offspring's resolved homologues was determined. In the karyotypically normal families studied no chromosome was found in a child which was clearly different from a homologue present in one of the parents. Using parental flow karyotypes to identify familial heteromorphisms, a number of dysmorphic children were studied in an attempt to detect small “de novo” abnormalities. Although no chromosome abnormality was detected in these cases, the usefulness of family studies was illustrated. In one family a large chromosome 4 homologue was found in the child and this was shown to be similar to one found in the father, suggesting an inherited heteromorphism rather than a clinically significant duplication. Flow analysis of the parents of a patient diagnosed cytogenetically as having an interstitial deletion of the X chromosome revealed the abnormality to be a “de novo” 3;X translocation. It is suggested that flow karyotype analysis in families has potential for the detection of chromosome rearrangements at the limits of resolution of conventional cytogenetics.Type of Medium: Electronic ResourceURL: -
4Articles: DFG German National LicensesFerretti, L. ; Raimondi, E. ; Davis, L. ; Romagnoni, M. ; Carli, L. ; Sgaramella, V. ; Young, B. D.
Springer
Published 1987Staff ViewISSN: 1573-0778Keywords: cytogenetics ; extra-chromosome ; FACS-analysisSource: Springer Online Journal Archives 1860-2000Topics: BiologyMedicineProcess Engineering, Biotechnology, Nutrition TechnologyNotes: Abstract In a newborn female, an abnormal karyotype, 46,XX/47,XX,+mar/47,XX,+9, was found associated with several malformations. The marker chromosome was present in 70% of peripheral blood lymphocytes, and its size appeared to be less than half of the smallest chromosomes. Several differential staining methods provided no indication as to its origin. Chromosomes isolated from EBV-immortalized lymphocytes of the patient were fractionated on a FACS-440. The marker was resolved as a sharp peak in the region close to the chromosomal debris: its DNA content seemed to be close to 40% of chromosomes 21 and 22. About 580000 minichromosomes were sorted. In order to optimize cloning conditions, a pilot cloning experiment was performed on a pool of sorted chromosomes 9, 10, 11 and 12.Type of Medium: Electronic ResourceURL: