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Dissertations / Theses on the topic 'Abnormalities, Human'

Author: Grafiati

Published: 4 June 2021

Last updated: 30 July 2024

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1

Martini, Elena. "Chromosomal abnormalities in human gametes." Maastricht : Maastricht : UPM, Universitaire Pers Maastricht ; University Library, Maastricht University [Host], 1998. http://arno.unimaas.nl/show.cgi?fid=8529.

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2

Atia, Tarek A. "Investigation of human subtelomeric cytogenic abnormalities." Thesis, University of Nottingham, 2003. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.272765.

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3

Ben, Amor Hanene. "Chromosome abnormalities in preimplantation bovine embryos." Thesis, McGill University, 2004. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=111790.

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Note:<br>Studies suggest that chromosomal abnormalities notably mosaicism consisting of normal and abnormal cells is a common feature observed in mammalian preimplantation embryos. The data on chromosome abnormalities in bovine embryos however, are limited. The principal aim of this study was to investigate chromosome abnormalities and their effect on the development of bovine embryos produced in vitro. 193 embryos were evaluated for chromosomal abnormalities, using dual fluorescent in situ hybridization (FISH) with developed DNA probes for X and Y chromosomes. Our results demonstrate that uni

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4

Downie, Sarah Elizabeth. "Detection of chromosomes and chromosomal abnormalities in human sperm." Title page, contents and overview only, 1999. http://web4.library.adelaide.edu.au/theses/09PH/09phd751.pdf.

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Bibliography: leaves 135-151. 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.

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5

Heydenrych, Joan Ingrid. "Certain congenital anomalies : some psycho-social implications in adulthood." Master's thesis, University of Cape Town, 1988. http://hdl.handle.net/11427/17157.

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Bibliography: pages 195-202.<br>This study is an investigation of some psycho-social implications in adulthood of being born with a congenital anomaly. The congenital anomalies - oesophageal atresia, Hirschsprung's disease and high anorectal malformations are surgically corrected at birth, but can be associated with residual problems. These problems could put patients at risk for psycho-social maladjustment. The three anomaly groups were seen to represent varying degrees of severity. The oesophageal atresia respondents represented the no to mild disability/residual problems group. Those who ha

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6

Clouston, Hazel J. "An investigation of chromosome abnormalities in the human blastocyst." Thesis, University of Newcastle Upon Tyne, 2003. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.397361.

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7

James, Rowena Sarah. "Genomic imprinting and the aetiology of human chromosome abnormalities." Thesis, University of Southampton, 1995. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.295874.

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8

Lahn, Bruce T. 1968. "The human Y chromosome : gene content and chromosomal abnormalities." Thesis, Massachusetts Institute of Technology, 1998. http://hdl.handle.net/1721.1/49655.

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9

Al, farawati Samer. "Analysis of chromosomal abnormalities in human oocytes and embryos." Thesis, University of Oxford, 2013. http://ora.ox.ac.uk/objects/uuid:da17212b-2713-4e6e-846a-e71549d6eb2f.

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The chromosome constitution of human cleavage stage embryos has been extensively investi-gated using a variety of techniques, revealing high levels of aneuploidy and mosaicism. However, the final phase of preimplantation development, the blastocyst stage has received relatively little attention mostly because it is only recently that embryo culture has become sufficiently well optimised to reliabley generate blastocysts. One of the aims of this study was to examine blastocyst cytogenetics, characterising the extent and variety of aneuploidy and, where possible, determining the origin of the ab

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10

Li, Fang. "An analysis of 25,000 cases from a hospital in Guangdong birth defect monitoring network during 2000 to 2005." View the Table of Contents & Abstract, 2007. http://sunzi.lib.hku.hk/hkuto/record/B38478742.

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11

Conn, Clare Maria. "Molecular cytogenetic analysis of chromosome abnormalities in early human embryos." Thesis, University College London (University of London), 2002. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.399168.

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12

Kuo, Hongqi. "Nuclear and chromosomal abnormalities in human preimplantation development in vitro." Thesis, King's College London (University of London), 2001. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.251676.

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13

Cork, Beverley Anne. "Cytokines and human endometrial function : abnormalities in recurrent miscarriage women." Thesis, Sheffield Hallam University, 2001. http://shura.shu.ac.uk/19669/.

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The human endometrium is the site of embryo implantation and is therefore responsible for providing a suitable environment for an embryo to grow and develop. This is achieved by the endometrium undergoing cyclical changes, under the control of steroid hormones. However, it is clear that steroid hormones are not the final effectors, but rather initiate a downstream cascade of molecular events through local autocrine and paracrine factors, such as cytokines. The role of cytokines in the human endometrium still remains to be determined, but they are thought to play an important role in the implan

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14

Glassberg, Andrea E. "Genetic testing for susceptibility to breast and ovarian cancer : a case study of clinical decision-making in medical genetics /." Thesis, Connect to this title online; UW restricted, 1997. http://hdl.handle.net/1773/10308.

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15

Nancarrow, Julie. "Studies of fragile sites on human chromosome 16 /." Title page, abstract and contents only, 1998. http://web4.library.adelaide.edu.au/theses/09PH/09phn1755.pdf.

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Thesis (Ph. D.)--University of Adelaide, Dept. of Cytogenetics and Molecular Genetics, 1998.<br>Copies of author's previously published articles inserted. Includes bibliographical references (leaves 194-222).

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16

Demczuk, Suzanne. "Genetic characterization of DiGeorge and related syndromes associated with 22q11.2 deletions." Thesis, McGill University, 1995. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=28726.

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DiGeorge syndrome (DGS) is a developmental defect associated with deletions in chromosomal region 22q11.2. Recently, other syndromes (Velo-Cardio-Facial syndrome, Conotruncal Anomaly Face syndrome, isolated conotruncal cardiopathy) with overlapping phenotypes have been found to be associated with deletions of a similar extent in this chromosomal region. All these syndromes have been grouped under the acronym CATCH 22 (Cardiac defect, Abnormal facies, Thymic hypoplasia, Cleft palate, Hypocalcemia, chromosome 22q11.2 deletions). In order to characterize genetically this group of syndromes, we ha

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17

Deng, Wen. "Dynamics of chromosome instability in human cells undergoing immortalization." Click to view the E-thesis via HKUTO, 2005. http://sunzi.lib.hku.hk/hkuto/record/B31375972.

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18

Deng, Wen, and 鄧文. "Dynamics of chromosome instability in human cells undergoing immortalization." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2005. http://hub.hku.hk/bib/B31375972.

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19

Abogrein, Abdulmawla. "Numerical chromosome abnormalities in human sperm and embryos : correlations and mechanisms." Thesis, University of Kent, 2008. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.498815.

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20

Stuart, Helen. "Urofacial syndrome : a genetic model to understand human urinary tract abnormalities." Thesis, University of Manchester, 2015. https://www.research.manchester.ac.uk/portal/en/theses/urofacial-syndrome-a-genetic-model-to-understand-human-urinary-tract-abnormalities(27ce034e-1efb-47cc-9ea4-611ebd926bbc).html.

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Urofacial syndrome (UFS; MIM# 236730) is a rare autosomal recessive condition characterised by urinary bladder and bowel voiding dysfunction with a pathognomonic abnormality of facial movement with expression. UFS can be caused by biallelic putative loss-of-function mutations in HPSE2, which encodes heparanase 2. Failure to discover HPSE2 mutations in all cases of UFS suggests genetic heterogeneity. The urinary tract features of UFS overlap those seen in the spectrum of non-syndromic non-neurogenic voiding dysfunction and vesicoureteric reflux (VUR). This overlap suggests there may be some asp

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21

Thirunavukarasu, Prema P. (Prema Pooranam) 1974. "Studies on inhibin forms in normal and abnormal human pregnancy." Monash University, Dept. of Obstetrics and Gynaecology, 2001. http://arrow.monash.edu.au/hdl/1959.1/8484.

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22

Heritage, Mandy Leigh. "Identification and characterisation of the genetic defect that causes Alagille Syndrome : mutations in the Jagged1 gene /." [St. Lucia, Qld.], 2002. http://www.library.uq.edu.au/pdfserve.php?image=thesisabs/absthe16914.pdf.

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23

Jayapaul, Muthu Kumaran. "Metabolic abnormalities in human subjects with variation in the Calpain 10 gene." Thesis, University of Newcastle upon Tyne, 2008. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.489334.

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24

Jones, Mark Philip. "A low frequency acoustic method for detecting abnormalities in the human thorax." Thesis, University of Southampton, 1996. https://eprints.soton.ac.uk/253034/.

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25

Hollway, Georgina. "The genetic basis of human craniosynostosis syndromes /." Title page, contents and summary only, 1998. http://web4.library.adelaide.edu.au/theses/09PH/09phh7448.pdf.

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26

Barbour, Virginia. "Regulation of the human #alpha# globin genes by their chromatin context." Thesis, University of Oxford, 1997. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.244591.

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27

Senft, Jamie Riemann. "Characterization of a conserved chromosome breakpoint at 10q21.3 in human and 10B5.1 in mouse possible role in cancer /." Morgantown, W. Va. : [West Virginia University Libraries], 2004. https://etd.wvu.edu/etd/controller.jsp?moduleName=documentdata&jsp%5FetdId=3767.

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Thesis (Ph. D.)--West Virginia University, 2004.<br>Title from document title page. Document formatted into pages; contains ix, 127 p. : ill. (some col.). Includes abstract. Includes bibliographical references (p. 111-127).

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28

De, Silva H. A. "Characterization of potassium fluxes in human platelets and their abnormalities in Alzheimer's disease." Thesis, University of Oxford, 1997. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.361946.

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29

Herman, Kazibwe. "Barriers experienced by parents/caregivers of children with clubfoot deformity attending specific clinics in Uganda." Thesis, University of the Western Cape, 2006. http://etd.uwc.ac.za/index.php?module=etd&action=viewtitle&id=gen8Srv25Nme4_9901_1194348551.

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<p>Clubfoot is the most common congenital structural deformity that leads to physical impairments in children in many poor developing countries. Inadequately treated or neglected clubfoot has been found to be a common cause of ohysical disability globally among children and young growing adults. Many children are referred to the clinics for treatment but some parents do not comply with the treatment regimen whcih requires attending for consecutive treatment sessions. The purpose of this study was to investigate barriers to treatment attendance parents/caregivers of children with clubfoot encou

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30

Rosa, Fraga Lucas. "Analysing phenotypes and molecular mechanisms of thalidomide and Primodos teratogenesis." Thesis, University of Aberdeen, 2016. http://digitool.abdn.ac.uk:80/webclient/DeliveryManager?pid=231144.

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Thalidomide was discovered to be teratogenic over 50 years ago, but is far from being a historical problem. A new generation of thalidomide survivors have been reported in Brazil, where the drug is used to treat leprosy complications and multiple myeloma. The mechanisms underlying thalidomide teratogenesis are not fully understood. Cereblon (CRBN) protein has been identified as a target of thalidomide. Cereblon is part of an E3 ubiquitin ligase complex with Damaged DNA Binding protein 1 and Cullin-4A. I have analysed the expression patterns of CRBN and its binding partners in wildtype and thal

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31

Pauls, David G. "Evangelical attitudes towards human enhancement a survey of the Midwest District of the Evangelical Free Church of America /." Theological Research Exchange Network (TREN) Theological Research Exchange Network (TREN) Access this title online, 2006. http://www.tren.com.

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32

Rahman, Md Atiqur. "Alternative Approach to Proliferation Pathway Suppression in Human Cancers." Thesis, Griffith University, 2016. http://hdl.handle.net/10072/366030.

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Cancer is a disease driven by complex genetic abnormalities. The ultimate outcome of these complex genetic disorders is uncontrolled cell proliferation. There are two major cellular proliferation and survival signalling pathways which are RAS-RAF- MEK-ERK and PI3K-AKT-mTOR proliferation-survival pathways. These proliferation-survival cell signalling pathways receive, carry and transfer important cell signals to the nucleus where the major transcription changes required for cell proliferation and survival occur. In normal cells, this proliferation cell signalling process is controlled, but thi

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33

Greeff, Christopher Whitney 1961. "CYTOGENETIC ABNORMALITIES AND THE PROGRESSION TO INVASION IN A375P HUMAN MELANOMA CELLS IN VITRO." Thesis, The University of Arizona, 1987. http://hdl.handle.net/10150/276462.

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A study was undertaken to determine whether cytogenetic abnormalities can be identified in an invasive melanoma cell population that has been selected in vitro out of a larger cell population of low invasive potential. The selecting agent was a denuded human amniotic membrane situated within Mega-Membrane Invasion Culture System chambers. Invasive cells were collected, grown, and harvested for cytogenetic analysis. Metaphases of these cells were examined for chromosomal abnormalities and for evidence of gene amplification in the form of double minute chromosomes. Invasive cell lines evinced ch

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34

Oakey, Rebecca. "The structure of alphoid satellite DNA on normal and abnormal human Y chromosomes." Thesis, University of Oxford, 1989. http://ora.ox.ac.uk/objects/uuid:162cb1a7-3176-4b56-be8b-353b65fee236.

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The long-range structure of the Y chromosome alphoid satellite DNA has been determined in the cell lines 3E7 and OXEN. Variation in alphoid DNA block size and restriction enzyme sites were observed. The alphoid block size and restriction enzyme site variations were determined for a collection of 42 normal Y chromosomes. The alphoid DNA polymorphisms observed denned 24 Y chromosome alleles. Unexpectedly, the Y alphoid DNA alleles analysed revealed two distinct groups of Y chromosomes indicating that most of the Caucasian and Asian men analysed were descended from one of two males. The structure

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35

BELL, CARL WAYNE. "CYTOGENETIC EVALUATION OF HUMAN GLIAL TUMORS: CORRELATION OF OVEREXPRESSION OF EPIDERMAL GROWTH FACTOR RECEPTOR (EGFR) WITH ABNORMALITIES OF CHROMOSOME 7." Diss., The University of Arizona, 1987. http://hdl.handle.net/10150/184108.

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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 obs

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36

Margaretten, Nadine C. "Effects of Antiepileptic Drugs on Immune Function in Human Subjects and Mice." DigitalCommons@USU, 1985. https://digitalcommons.usu.edu/etd/4639.

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A number of immune abnormalities have been found in epileptic patients treated with antiepileptic drugs (AED). The alterations seen range from mild suppression of immunoglobulins to severly impaired humoral and cellular immunities. There is evidence for both drug effects and genetic or acquired factors as contributors to these abnormalities. In order to examine the basis for immune abnormalities in patients with epilepsy, a number of experimental designs were employed: clinical studies, in vitro studies, and use of an animal model. Peripheral blood mononuclear cells (PBMC) isolated from epilep

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37

Sims, Gwenivere. "Plantar force differences before and after an ultra-endurance event." Thesis, Nelson Mandela Metropolitan University, 2011. http://hdl.handle.net/10948/d1012795.

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The aim of this study was to determine the pre- and post-plantar force differences of athletes competing in an ultra-endurance event. The study was exploratory and quasi-experimental in nature and utilized a quantitative approach. A Quasi-experimental, one group pretest, posttest design was used. The study involved 84 participants selected by means of convenient sampling from a total of 1552 participants. The equipment used for data collection was the RS Footscan®, stadiometer and a weight scale. Differences between the plantar forces before and after the competition were significant for the s

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38

Li, Fang, and 李芳. "An analysis of 25,000 cases from a hospital in Guangdong birth defect monitoring network during 2000 to 2005." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2007. http://hub.hku.hk/bib/B39724487.

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39

Chiu, Kam-hung, and 趙錦鴻. "Genetic aberrations in chronic lymphocytic leukaemia as prognostic markers." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2008. http://hub.hku.hk/bib/B41290781.

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40

Chiu, Kam-hung. "Genetic aberrations in chronic lymphocytic leukaemia as prognostic markers." Click to view the E-thesis via HKUTO, 2008. http://sunzi.lib.hku.hk/hkuto/record/B41290781.

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41

Hornby, Ann Elizabeth. "Detection of a mutation in a human LCAT gene." Thesis, University of British Columbia, 1988. http://hdl.handle.net/2429/27958.

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LCAT deficiency is a rare autosomal recessive disease characterized by low levels of plasma HDL and an inability of the enzyme lecithin:cholesterol acyltransferase (LCAT) to esterify cholesterol. An understanding of the structure and function of the LCAT protein will add significantly to the understanding of reverse cholesterol transport. This understanding can be gained, in part, by studying different mutations within the LCAT gene and their resultant phenotypes. Recombinant DNA technology has been used to determine the nature of a mutation in an LCAT gene of a previously described homozygote

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42

Fragouli, Elpida. "The detection of chromosomal abnormalities in human oocytes and preimplantation embryos by molecular cytogenetic analysis." Thesis, University College London (University of London), 2005. http://discovery.ucl.ac.uk/1445491/.

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Chromosome abnormalities are observed very frequently in humans. Several types of structural chromosome abnormalities have been identified, with chromosome translocations, both reciprocal and Robertsonian, being the most common in the population. Balanced carriers of such rearrangements could be at risk of generating abnormal offspring due to the meiotic segregation of the translocation. Preimplantation Genetic Diagnosis (PGD) has allowed the extensive cytogenetic investigation of embryos from such patients with the application of Fluorescent in situ hybridisation (FISH). The first part of thi

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43

Konstantinidis, Michalis. "Preimplantation genetic diagnosis : new methods for the detection of genetic abnormalities in human preimplantation embryos." Thesis, University of Oxford, 2013. http://ora.ox.ac.uk/objects/uuid:28611f65-7729-4293-9c3f-4fc3f0cc39d7.

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Preimplantation genetic diagnosis (PGD) refers to the testing of embryos produced through in vitro fertilization (IVF) in order to identify those unaffected by a specific genetic disorder or chromosomal abnormality. In this study, different methodologies were examined and developed for performance of PGD. Investigation of various whole genome amplification (WGA) methods identified multiple displacement amplification as a reliable method for genotyping single cells. Furthermore, this technology was shown to be compatible with subsequent analysis using single nucleotide polymorphism (SNP) microa

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44

Holden, Lynn Rosemary. "A motif-index of abnormalities, deformities and disabilities of the human form in traditional narrative." Thesis, University of Edinburgh, 1988. http://hdl.handle.net/1842/18969.

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45

Suthers, Graeme Kemble. "The human gene map near the fragile X /." Title page, table of contents and summary only, 1990. http://web4.library.adelaide.edu.au/theses/09PH/09phs966.pdf.

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Thesis (Ph. D.)--Dept. of Paediatrics, Faculty of Medicine, University of Adelaide, 1991.<br>Typescript (Photocopy). Includes published papers co-authored by the author at the end of volume 2. Includes bibliographical references (leaves 195-237 of vol. 1).

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46

Golden, Jackelyn B. "Abnormalities in the Adhesion and Aggregation Profiles of Circulating Monocytes in Psoriasis." Case Western Reserve University School of Graduate Studies / OhioLINK, 2016. http://rave.ohiolink.edu/etdc/view?acc_num=case1441361209.

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47

Kazemi-Esfarjani, Parsa. "Functional analysis of the human androgen receptor using synthetic and naturally occurring mutations." Thesis, McGill University, 1996. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=42065.

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The human androgen receptor (hAR) is a ligand-activated transcription factor, and like other nuclear receptors, consists of a N-terminal modulatory domain, a central DNA-binding domain, and a C-terminal ligand-binding domain (LBD). Several missense mutations in the LBD cause androgen insensitivity syndrome (AI), a condition in XY individuals with absent or subnormal male primary and secondary sexual characteristics. On the other hand, abnormal expansion of a polyglutamine tract in the N-terminal domain of the hAR causes spinal and bulbar muscular atrophy (SBMA) which also affects males and cau

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48

Campbell, Tania, and n/a. "When two worlds meet : an examination of the intersection between scientific views of genetic testing and the realm of popular culture." University of Otago. Department of Anthropology, 2004. http://adt.otago.ac.nz./public/adt-NZDU20070504.112700.

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This thesis explores the variety of ways in which scientific views of genetic testing are portrayed in the realm of popular culture. As a case study, I have used the identification of the gene for hereditary stomach cancer which occurred in New Zealand in 1998, and was the result of a partnership between the affected whanau and scientists from the University of Otago. Both the empirical and theoretical findings of this project have shown how such accounts are not neutral or transparent. Rather, they are positioned to represent certain values and ideas, and this is even more evident when those

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49

Wong, Hoi-man Emily, and 黃凱敏. "Genome-wide association analyses on complex diseases: from single-nucleotide polymorphism to copy numbervariation." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2013. http://hub.hku.hk/bib/B50534099.

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Complex diseases, unlike Mendialian diseases, are often characterized by genetic heterogeneity and multifactorial inheritance, involving defects in genes from the same or multiple alternative pathways. Many congenital diseases and psychiatric disorders are complex diseases, and incur heavy health care burden on the society. With the advancement in high-throughput genotyping technologies and the availability of the human single nucleotide polymorphism (SNP) catalogue, genome-wide association study (GWAS) has been widely used to investigate the genetic component of complex diseases. Copy number

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50

Coultas, Susan L. (Susan Lynette). "A comparison of straight-stained, Q-stained, and reverse flourescent-stained cell lines for detection of fragile sites on the human X chromosome." Thesis, North Texas State University, 1985. https://digital.library.unt.edu/ark:/67531/metadc798127/.

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Cell cultures were examined for percentage of fragile sites seen in straight-stained, Q-stained and reverse fluorescent-stained preparations. In all cases, percentage of fragile site expression was decreased when compared to straight-stained preparations. However, fragile sites seen in Q- and RF-stain could be identified as on X chromosomes.

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