Spelling suggestions: "subject:"chromosome abnormalities"" "subject:"chromosome abnormailities""
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Dynamics of chromosome instability in human cells undergoing immortalizationDeng, Wen, 鄧文 January 2005 (has links)
published_or_final_version / abstract / Anatomy / Doctoral / Doctor of Philosophy
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Rapid prenatal diagnosis of common fetal aneuploidies by fluorescence in situ hybridisationZheng, Yun-Ling January 1993 (has links)
No description available.
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CYTOGENETIC EVALUATION OF HUMAN GLIAL TUMORS: CORRELATION OF OVEREXPRESSION OF EPIDERMAL GROWTH FACTOR RECEPTOR (EGFR) WITH ABNORMALITIES OF CHROMOSOME 7.BELL, CARL WAYNE. January 1987 (has links)
Chromosome banding analysis of human glial tumors was performed using G- and Q-banding techniques in an attempt to establish recurring sites of chromosome change. Results revealed a nonrandom karyotypic profile including aneuploidy and considerable variation in chromosome number (range 40 → 200). All tumors examined displayed numerical abnormalities, with the most common numeric change being a gain of chromosome 7. Chromosomes most frequently involved in structural abnormalities included #1, #3, #7, and #11. Double minutes, reported to be frequently associated with human glial tumors, were observed in only one of ten tumors examined. These results (taken in conjunction with previously published reports) suggest that the single most frequently altered chromosome in human glial tumors is chromosome 7. An attempt was then made to correlate the observed chromosome 7 changes with activation of the cellular proto-oncogene c-erb-B, whose product is the epidermal growth factor receptor (EGFR). Six human glial tumors were analyzed for ¹²⁵I-EGF binding, EGFR gene copy number, EGFR gene rearrangement, mRNA expression, and karyotypic profile. Saturation analysis at 4°C revealed significant numbers of EGFR's in all 6 tumors. Southern blotting analysis utilizing cDNA probes for the EGFR failed to demonstrate significant amplification or structural rearrangement of the EFGR gene. Analysis of EGFR mRNA revealed significant levels in 3 of the tumors studied as compared to the A341 cell line. Karyotypic analysis revealed that all six cell lines displayed extra copies of both whole and structurally altered chromosome 7. These results may suggest that EGFR overexpression is associated with alterations of chromosome 7 (the locus for the EGFR gene). In contrast to previous reports, EGFR mRNA levels did not directly parallel EGF receptor numbers. These results suggest that overexpression of the EGFR may be related to an alternative mechanism, other than gene amplification and elevated mRNA levels, such as the regulation of receptor biosynthesis and degradation. In summary, findings indicate that alterations of chromosome 7 are the most prevalent chromosomal change in human glial tumors, and that these alterations may lead to overexpression of the proto-oncogene c-erb-B.
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Cryptic telomeric rearrangements in individuals with idiopathic mental retardationJoyce, Christine Angela January 2000 (has links)
No description available.
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Development of a DNA microarray for detection of aneuploidy in single blastomeres / Dong Gui Hu.Hu, Dong Gui January 2004 (has links)
"January 2004" / Includes bibliographical references (leaves 178-201) / Accompanying CD-ROM contains raw data for the thesis / Systems requirements for accompanying CD-ROM: IBM PC or compatible; CD-ROM drive; Adobe acrobat reader / xv, 201 leaves : ill. (some col.), plates (col.) ; 30 cm. + 1 CD-ROM (col. ill. ; 4 3/4 in.) / Title page, contents and abstract only. The complete thesis in print form is available from the University Library. / Thesis (Ph.D.)--University of Adelaide, Dept. of Obstetrics and Gynaecology, 2004
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Identification and characterisation of the genetic defect that causes Alagille Syndrome : mutations in the Jagged1 gene /Heritage, Mandy Leigh. January 2002 (has links) (PDF)
Thesis (Ph. D.)--University of Queensland, 2003. / Includes bibliographical references.
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Cytogenetic analysis of primary breast tumors and MCF10A cells to determine early steps of breast carcinomaOdetallah, Mohammad. January 1900 (has links)
Thesis (M.S.)--West Virginia University, 2003. / Title from document title page. Document formatted into pages; contains vi, 38 p. : ill. (some col.). Vita. Includes abstract. Includes bibliographical references (p. 35-37).
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Chromosomal aberrations in the cells of Chinese hamster (Cricetulus griseus Milne-Edw) embryos and offspring after paternal x-irradiationZehr, Mary Virginia 08 1900 (has links)
No description available.
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The prevalence of the 47, XYY chromosome abnormality in selected human populationsExley, Ethelyn Elaine January 1972 (has links)
The purpose of this research was to examine four selected human population groups, institutionalized and normal, to determine the prevalence of the 47, XYY chromosome abnormality among adult males.
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Detection of chromosomes and chromosomal abnormalities in human sperm / Sarah Elizabeth Downie.Downie-Doyle, Sarah Elizabeth January 1999 (has links)
Bibliography: leaves 135-151. / xx, 151, [14] leaves, [15] leaves of plates : ill. (chiefly col.) ; 30 cm. / Title page, contents and abstract only. The complete thesis in print form is available from the University Library. / A study of chromosomal abnormalities and the localisation of chromosomes in human sperm, especially from men with TSD, using fluorescence in situ hybridization (FISH). The project entailed: 1. development of reliable FISH protocols, 2. determination of basline frequencies of aneuploidy, 3. analysis of chromosomal abnormalities in men with severe TSD and 4. assessment of the localisation of individual chromosomes within the sperm head. / Thesis (Ph.D.)--University of Adelaide, Dept. of Obstetrics and Gynaecology, 2000
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