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Дисертації з теми "Genetic families"

Автор: Grafiati

Опубліковано: 3 червня 2025

Оновлено: 31 липня 2025

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1

Skirton, Heather. "A longitudinal study of genetic counselling for families - needs, expectations and outcomes." Thesis, University of Exeter, 2000. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.312415.

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A longitudinal study of 43 families referred to a Clinical Genetic Service was undertaken to ascertain the needs and expectations of the service, from the client's perspective. Previous studies have mainly focussed on changes in knowledge or reproductive patterns as outcomes for genetic counselling. Clients were interviewed before contact with the genetic service, after the consultation, and six months later. At each interview, psychological questionnaires to assess Need for Cognitive Closure (Webster & Kruglanski, 1994), anxiety (Spielberger et aI, 1970) and the impact of the genetic conditio

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2

Wells, Richard Alexander. "Genetic studies using families of hypervariable sequences." Thesis, University of Oxford, 1989. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.276858.

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3

Mayosi, B. M. "Genetic determination of cardiovascular risk factors in families." Thesis, University of Oxford, 2001. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.249502.

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4

Ferreira, Manuel A. R. "Genetic risk factors for allergic asthma in Australian families /." [St. Lucia, Qld.], 2005. http://www.library.uq.edu.au/pdfserve.php?image=thesisabs/absthe19164.pdf.

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5

Antebi, Yael Jennifer. "Genetic predisposition to ovarian cancer in Ashkenazi Jewish families." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1998. http://www.collectionscanada.ca/obj/s4/f2/dsk1/tape10/PQDD_0009/MQ40766.pdf.

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6

Morr, Lindsey. "Cascade testing communication within Lynch syndrome families: An examination of communication privacy management theory." The Ohio State University, 2018. http://rave.ohiolink.edu/etdc/view?acc_num=osu1525765585195444.

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7

Van, der Merwe Annelize. "Genetic heterogeneity in South African facioscapulohumeral muscular dystrophy (FSHD) families." Pretoria : [s.n.], 2006. http://upetd.up.ac.za/thesis/available/etd-10262005-110841/.

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8

Mayans, Sofia. "Genetic studies of diabetes in northern Sweden." Doctoral thesis, Umeå universitet, Medicinsk biovetenskap, 2008. http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-1920.

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Diabetes mellitus represents a group of metabolic disorders caused by both environmental and genetic factors. The two most common forms of diabetes are type 2 diabetes (T2D) and type 1 diabetes (T1D). T2D is associated with obesity and the disease is caused by insulin resistance and pancreatic b-cell dysfunction. T1D is an autoimmune disease in which the insulin- producing b-cells in the pancreas are destroyed by infiltration of lymphocytes. The aim of this thesis was to identify genes conferring susceptibility to diabetes. This was approached using genetic methods, both linkage and associatio

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9

Ford, Deborah. "Genetic epidemiology of breast and ovarian cancer." Thesis, Institute of Cancer Research (University Of London), 2001. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.367527.

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10

Al, Muftah Wadha. "Genetic and epigenetic analysis of type 2 diabetes among Qatari families." Thesis, Imperial College London, 2015. http://hdl.handle.net/10044/1/58193.

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Type 2 diabetes (T2D) is a complex multifactorial disorder driven by both genetic and environmental factors. The rapid increase of T2D in Qatar -prevalence of 16.3% in 2014 according to the International Diabetes Federation (IDF) - motivated the introduction of genetic studies among this under-presented population. Major progress to study the genetic basis of T2D came from studying common variants. However, these variants were of mild effect sizes. Studies have been shifted from applying the common variants hypothesis towards the investigation of other genetic variables including rare variants

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11

Keller, Lina. "Genetics in dementia impact of sequence variations for families and populations /." Stockholm, 2010. http://diss.kib.ki.se/2010/978-91-7409-820-4/.

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12

Gauerke, Jennifer Leigh. "Genetic Evaluation of Patients and Families with Concern for Hereditary Tumor Syndromes within the OSU James Multidisciplinary Neuroendocrine/Thyroid Cancer." The Ohio State University, 2019. http://rave.ohiolink.edu/etdc/view?acc_num=osu1555086532080802.

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13

Mazzarotto, Francesco. "Characterization of the genetic architecture of dilated cardiomyopathy using families and cohorts." Thesis, Imperial College London, 2016. http://hdl.handle.net/10044/1/39047.

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Cardiomyopathies are the leading cause of heart transplantation in the developed world, and dilated cardiomyopathy accounts for an important proportion of all heart failure cases in large clinical trials. In spite of a strong genetic basis for dilated cardiomyopathy being demonstrated widely in the past two decades, 60% of familial cases remain unexplained. Dilated cardiomyopathy is characterized by marked genetic heterogeneity, with more than 60 individual genes reported to cause the disease, yet only one (TTN) explaining more than 10% of cases. Here, high-throughput sequencing data, advanced

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14

James, Cynthia A. "How does the mode of inheritance of a genetic condition influence families?" Available to US Hopkins community, 2003. http://wwwlib.umi.com/dissertations/dlnow/3080687.

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15

Malandris, Michael. "A Clinical And Molecular Genetic Study Of Oligodontia In Three Australian Families." Thesis, Faculty of Dentistry, 2009. http://hdl.handle.net/2123/4169.

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16

Al, Amri Ahmed Hamed Hamood. "Genetic basis of intellectual disability and schizophrenia in selected Omani and UK families." Thesis, University of Leeds, 2017. http://etheses.whiterose.ac.uk/18055/.

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Intellectual disability (ID) is devastating condition which is defined using three criteria: reduced intellectual ability, deficit in two or more adaptive behaviours, and diagnosis before the age of 18 years. ID can have various causes, but genetic factors are thought to be responsible for up to 50% of cases. ID is a heterogeneous and complex disorder, and more than 800 genes have been implicated in its pathology. Schizophrenia (SZ) is another complex neurodevelopmental condition that also affects the brain and has a partially overlapping genetic basis with ID. This thesis describes work carri

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17

Landoure, G. "Clinical, laboratory, and genetic studies of families with Charcot-Marie-Tooth type 2C disease." Thesis, University College London (University of London), 2011. http://discovery.ucl.ac.uk/1331894/.

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Charcot-Marie-Tooth disease type 2C (CMT2C) is an autosomal dominant neuropathy characterized by limb, diaphragm, and laryngeal muscle weakness. We studied five unrelated families with CMT2C, of which two showed significant linkage to chromosome 12q24.11. Linkage analysis excluded this locus in one of the remaining families, suggesting genetic heterogeneity within this CMT subtype. SNP genotyping of samples from affected individuals in the three linked families did not reveal any deletion or copy number variation. All genes in this region were sequenced and two heterozygous missense mutations

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18

Ahmed, Mustafa Yaseen. "Defining the genetic basis of three novel neurodevelopmental disorders identified in families from Oman." Thesis, St George's, University of London, 2017. https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.753985.

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The recognition of the clinical burden arising from otherwise rare inherited neurological conditions in Oman, arising largely due to the historical practice of tribal community isolation, led to collaborative international research programs aimed at investigating the causes of these conditions to improve diagnosis and aid early intervention, clinical care and genetic screening and counselling efforts. The studies detailed in this thesis describe the investigations undertaken to identify the genetic basis of three rare inherited conditions in extended Omani families. In addition, the interconne

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19

Galal, Ushma. "The statistical theory underlying human genetic linkage analysis based on quantitative data from extended families." Thesis, University of the Western Cape, 2010. http://etd.uwc.ac.za/index.php?module=etd&action=viewtitle&id=gen8Srv25Nme4_2684_1361989724.

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<p>Traditionally in human genetic linkage analysis, extended families were only used in the analysis of dichotomous traits, such as Disease/No Disease. For quantitative traits, analyses initially focused on data from family trios (for example, mother, father, and child) or sib-pairs. Recently however, there have been two very important developments in genetics: It became clear that if the disease status of several generations of a family is known and their genetic information is obtained, researchers can pinpoint which pieces of genetic material are linked to the disease or trait. It also beca

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20

Alakbarzade, V. "Defining the genetic basis of three hereditary neurological conditions in families from the Indian subcontinent." Thesis, University College London (University of London), 2016. http://discovery.ucl.ac.uk/1496816/.

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Neurogenetic studies have revolutionised our understanding of the genetic and molecular basis of inherited neurological disorders, primarily as a result of the identification of single disease-causing genes. The incidence of such disorders is increased amongst populations with common shared ancestry or a high rate of consanguinity. Hence, the investigation of inherited neurological conditions in genetic isolates provides a robust opportunity to define the molecular pathogenic basis of these conditions. Neurological and neurodevelopmental disorders present important public health issues in the

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21

Valentine, Erin L. "Microarray-based comparative genomic hybridization of three Adams Oliver syndrome families." Oklahoma City : [s.n.], 2009.

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22

Bruce, Jennifer. "Family quality of life in families of children with Phelan-McDermid syndrome: A rare genetic disability." Thesis, McGill University, 2010. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=86973.

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Phelan McDermid Syndrome (PMS) has only 400 known cases worldwide. Characteristics of this genetic disorder include a lack of speech, moderate to severe intellectual disabilities and characteristics of autism (Shaw et al., 2007). This study assessed factors contributing to the quality of life in these families using a mixed method approach. Data was collected from 26 families through a quality of life assessment and a semi-structured interview (FQOLS; Beach Center, 2001; EFI; Weisner, Bernheimer & Coots, 1997). The interviews were coded for themes and simple linear regression was used to deter

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23

Steinbach, Margaret. "Genetic Variations in Three Interacting Single Nucleotide Polymorphisms and the Risk of Preterm Birth in Black Families." Scholarly Repository, 2009. http://scholarlyrepository.miami.edu/oa_dissertations/316.

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Preterm birth, defined as birth prior to 37 completed weeks gestation, is a serious health concern. Despite advances in health care screening and interventions, the rate of preterm birth in the United States has risen more than 30 percent since 1981. In 2006, Menon and associates reported the first multilocus genetic interaction in three single nucleotide polymorphisms predictive of spontaneous preterm birth in a population of White mothers. A gene association study using a case-control design was conducted to determine whether the results of the Menon study were also true for Black women a

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24

Vergotine, Joseph Vincent. "The MED-PED project : presymptomatic diagnosis in families with disease- related LDL receptor gene mutations." Thesis, Stellenbosch : Stellenbosch University, 2000. http://hdl.handle.net/10019.1/51997.

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Thesis (MSc)--Stellenbosch University, 2000.<br>ENGLISH ABSTRACT: Familial hypercholesterolaemia (FH) contributes significantly to the high death rate from cardiovascular disease worldwide. FH is a common autosomal co-dominant disease characterised by raised cholesterol levels and premature coronary heart disease (CHD). Whilst these features usually are very prominent in homozygotes the clinical diagnosis of heterozygotes is complicated by variable phenotypic expression. Specific founder genes in the low-density lipoprotein receptor (LDLR) gene have increased the prevalence of FH in So

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25

Krsikapa, Nenad. "Variation for resistance to Fusarium graminearum ear rot in selfed families from the corn population Zapalote Chico." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1997. http://www.collectionscanada.ca/obj/s4/f2/dsk2/tape16/PQDD_0021/MQ37137.pdf.

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26

Vichnevetski, Klara. "Genetic polymorphism and physiological response to ambiol in half-sib families of black spruce (Picea mariana Mill. B.S.P.)." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1999. http://www.collectionscanada.ca/obj/s4/f2/dsk2/ftp02/NQ41332.pdf.

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27

Vermaak, J. A. "Genetic variation for growth, wood and fibre properties of Pinus patula families grown on six sites in South Africa." Thesis, Link to the online version, 2007. http://hdl.handle.net/10019/1355.

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28

Jackson, L. A. "Cytogenetic and molecular genetic analysis of normal, pre-malignant and malignant breast tissue from patients in high-risk families." Thesis, University of Cambridge, 2006. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.604988.

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The data presented in this thesis demonstrates that 60.0% of the morphologically normal samples from women at high risk for breast cancer showed genomic copy number aberrations by CGH. There was an average of 1.45 aberrations per sample analysed. These aberrations seemed to be spread throughout the genome, however, there were some regions of interest. These were gains on 1p, 9p, 16p 16q and 19. The presence of these aberrations suggests that morphologically normal epithelial cells analysed from these cases have a degree of genomic instability. The CGH results for HUT presented a complicated pr

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29

Del, Bem Luiz Eduardo Vieira 1984. "Evolução de famílias multigênicas e redes de regulação em plantas = Evolution of multigenic families and genetic networks in plants." [s.n.], 2013. http://repositorio.unicamp.br/jspui/handle/REPOSIP/317168.

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Orientadores: Michel Georges Albert Vincentz, Renato Vicentini dos Santos<br>Tese (doutorado) - Universidade Estadual de Campinas, Instituto de Biologia<br>Made available in DSpace on 2018-08-23T15:28:17Z (GMT). No. of bitstreams: 1 DelBem_LuizEduardoVieira_D.pdf: 43647659 bytes, checksum: cc24ef3c44baab981cbc66519b37ce4b (MD5) Previous issue date: 2013<br>Resumo: O sequenciamento de um número crescente de genomas completos tem transformado a biologia. Mais especificamente, no campo da biologia evolutiva, tem se tornado possível endereçar perguntas centrais sobre o funcionamento ultimato dos

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30

Le, Coyte Hopkins Catherine Marie Ginette. "Challenge not crisis : an exploration of the role of genetic counselling for Turner syndrome, using an 'across the life span' approach, enabling families and individuals to meet the challenge." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2014. http://hdl.handle.net/10722/209527.

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An exploratory pilot study was conducted to identify specific experiences, perceptions and challenges of participants affected by Turner Syndrome in Hong Kong. It was important to discover how issues concerning fertility, menstruation, ovarian function and ovarian insufficiency and hormone replacement therapy, which are important to these women have impacted their psychosocial wellbeing, psychosocial experiences and their relationships. An ‘across the life span’ approach was used to explore significant issues at various stages or ‘moments’ of their lives, and which they perceive to be importan

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31

Cloete, Ruben Earl Ashley. "Investigations of Renin-Angiotensin Aldosterone System (RAAS) genes in hypertrophy in hypertrophic cardiomyopathy (HCM) founder families." Thesis, Stellenbosch : Stellenbosch University, 2008. http://hdl.handle.net/10019.1/21880.

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Thesis (MScMed)--Stellenbosch University, 2008.<br>ENGLISH ABSTRACT: In hypertrophic cardiomyopathy (HCM), an autosomal dominant disorder, hypertrophy is variable within and between families carrying the same causal mutation, suggesting a role for modifier genes. Associations between left ventricular hypertrophy and left ventricular pressure overload suggested that sequence variants in genes involved in the Renin-Angiotensin Aldosterone System (RAAS) may act as hypertrophy modifiers in HCM, but some of these studies may have been confounded by, amongst other things, lack of adjustment for

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32

McBride, Whitney Lee. "An analysis of gender ratios in families with one or more individuals affected by systemic lupus erythematosus." Oklahoma City : [s.n.], 2010.

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33

Sheikhi, Abdullah. "Australian twin and molecular genetic study on attention deficit hyperactivity disorder and its co-morbidity with reading disability." Thesis, Curtin University, 2008. http://hdl.handle.net/20.500.11937/281.

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Aim: This study aims to investigate the genetic components of Attention Deficit Hyperactivity Disorder (ADHD), Reading Disability (RD), and their comorbidity. Methods: Three approaches were applied to data from 2610 Australian twin families. This data was obtained by parental completion of the ‘Twin and Sibling Questionnaire'. 1) Latent Class Analysis (LCA) was applied to generate genetically independent classes that defined ADHD subtypes and RD based on related cluster symptoms. 2) Genetic modelling was used to study the particular genetic and environmental effects of each ADHD subtype and of

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34

Cox, Susan M. "It's not a secret but.., predictive testing and patterns of communication about genetic information in families at risk for Huntington disease." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1999. http://www.collectionscanada.ca/obj/s4/f2/dsk3/ftp04/nq46334.pdf.

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35

Sheikhi, Abdullah. "Australian twin and molecular genetic study on attention deficit hyperactivity disorder and its co-morbidity with reading disability." Curtin University of Technology, School of Psychology, Division of Health Sciences, 2008. http://espace.library.curtin.edu.au:80/R/?func=dbin-jump-full&object_id=18548.

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Анотація:

Aim: This study aims to investigate the genetic components of Attention Deficit Hyperactivity Disorder (ADHD), Reading Disability (RD), and their comorbidity. Methods: Three approaches were applied to data from 2610 Australian twin families. This data was obtained by parental completion of the ‘Twin and Sibling Questionnaire'. 1) Latent Class Analysis (LCA) was applied to generate genetically independent classes that defined ADHD subtypes and RD based on related cluster symptoms. 2) Genetic modelling was used to study the particular genetic and environmental effects of each ADHD subtype and of

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36

MARGARESE, Naomi. "Genetic analysis of BRCA1 and BRCA2 genes in Sicilian high risk families and functional characterization of BRCA1 variants of uncertain significance (VUS)." Doctoral thesis, Università degli Studi di Palermo, 2014. http://hdl.handle.net/10447/90823.

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37

游頌輝 and Chung-fai Forrest Yau. "DNA microsatellites co-segregation of polycystic kidney diseasegenes (PKD1 & PKD2) in autosomal dominant polycystic kidney disease(ADPKD) families & cell culture models for ADPKD." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 1999. http://hub.hku.hk/bib/B31223771.

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38

Bruwer, Zandré. "An investigation into factors which have an impact on access to and utilisation of the genetic and endoscopic surveillance clinic offered to high-risk members of known Lynch families." Doctoral thesis, University of Cape Town, 2011. http://hdl.handle.net/11427/12794.

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Includes bibliographical references (leaves 257-302).<br>The Genetic and Endoscopic Surveillance Clinic provides predictive testing and life-saving colorectal cancer screening services to individuals with Lynch syndrome in the Western and Northern Cape provinces of South Africa. The risk of colorectal cancer is reduced by 50% and mortality is decreased by 65% with regular colonoscopic screening; however, the attendance rate at the clinic has been declining over several years. Concerns exist for those individuals undergoing screening at levels below the desired recommendations. It was thus oppo

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39

Leduc, Cassandra. "The development of a family history collection tool for use in a pediatric practice a pilot study /." Waltham, Mass. : Brandeis University, 2009. http://dcoll.brandeis.edu/handle/10192/23240.

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40

Kergė, Donatas. "Paprastosios eglės kilmių ir rinktinių medžių palikuonių šeimų genetinis-selekcinis įvertinimas ąžuolų būdos bandomuosiuose želdiniuose." Master's thesis, Lithuanian Academic Libraries Network (LABT), 2013. http://vddb.laba.lt/obj/LT-eLABa-0001:E.02~2013~D_20130621_144247-67712.

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Magistro darbe tiriama paprastosios eglės kilmių ir rinktinių medžių palikuonių šeimų genetinis–selekcinis įvertinimas bandomuosiuose želdiniuose. Darbo objektas – Ąžuolų Būdos girininkija, 55 kv., 6 skl. Augavietė Lc. Įveisti 1985 m. keturmečiais sodinukais. Plotas 1,5 ha. Darbo tikslas – atlikti paprastosios eglės kilmių ir rinktinių medžių šeimų genetinį–selekcinį įvertinimą bandomuosiuose želdiniuose. Atrinkti pranašiausius genotipus (rinktinius medžius ir individus palikuonių šeimose) antros kartos miško sėklinėms plantacijoms veisti ir įvertinti selekcinį efektą. Darbo metodai – atlikt

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41

Yanez, Arce Marco Aliro. "Management intensity effects on growth and physiological responses of loblolly pine varieties and families growing in the Virginia Piedmont and North Carolina Coastal Plain of the United States." Diss., Virginia Tech, 2014. http://hdl.handle.net/10919/64794.

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Varietal forestry may increase the productivity of loblolly pine (Pinus taeda L.) in the Southern United Sates. However, the effects of these genetic x environment interactions are still poorly understood. In this study we examined the responses in growth, stand uniformity and leaf level physiology of loblolly pine clonal varieties and families to silvicultural intensity and site effects. We also looked for patterns in observed traits that were consistent between crown ideotypes. Two varieties of each crown ideotype (narrow vs broad crowns) and two families (cont

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42

Benson, Claire Elizabeth. "Genetics of familial hip osteoarthritis :identification of genetic susceptibility factors." Thesis, Queen's University Belfast, 2008. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.491996.

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Osteoarthritis is already a major cause of disability worldwide and with an ageing population the associated socio-economic burden is expected to soar. Complex interactions between genetic and environmental factors are responsible for the initiation of osteoarthritis. There is a clear genetic contribution to hip' osteoarthritis but to date no major susceptibility gene has been identified. A large collection of affected sib pairs with hip osteoarthritis had already been recruited from Northern Ireland (416 participants) and Nottingham (115 participants) . Additional unaffected (n=42) family mem

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43

Downes, Susan Melissa. "A clinical and molecular genetic study to characterise the phenotype and identify the causative gene in a family with autosomal dominant cone dystrophy, and phenotypic characterisation in five other families with cone-rod dystrophies." Thesis, University of Bristol, 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.324358.

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44

Sivard, Gunilla. "A generic information platform for product families." Doctoral thesis, Stockholm, 2001. http://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-3081.

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45

Agenbag, Gloudi. "Molecular genetic analysis of familial breast cancer in South Africa." Thesis, Link to the online version, 2005. http://hdl.handle.net/10019/953.

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46

Marsh, Victoria Mary Chuck. "Sharing findings on sickle cell disorder in international collaborative biomedical research : an empirical ethics study in coastal Kenya." Thesis, University of Oxford, 2012. http://ora.ox.ac.uk/objects/uuid:b693b762-5ce8-4109-82ea-4cf7ba38675e.

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Against the background of a dilemma experienced by researchers during a genomics study at an established biomedical research centre in Kenya, the broad aims of this thesis are to develop appropriate responses to important ethical questions on sharing information on a common and serious genetic condition, sickle cell disorder, and assess the responsibilities of researchers in this regard. Using an empirical approach to normative reflection across two phases of qualitative research, I explore the nature of important moral concerns related to sharing sickle cell disease information from researche

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47

Fidal, D. L. "On the geometry of generic 1-parameter families." Thesis, University of Liverpool, 1985. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.372689.

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48

Villablanca, Andrea. "Genetic background of familial primary hyperparathyroidism /." Stockholm, 2003. http://diss.kib.ki.se/2003/91-7349-520-4/.

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49

Göransdotter, Ericson Kim. "Genetic studies of familial hemophagocytic lymphohistiocytosis /." Stockholm, 2004. http://diss.kib.ki.se/2004/91-7140-086-9/.

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50

Futema, M. "The genetic architecture of familial hypercholesterolaemia." Thesis, University College London (University of London), 2014. http://discovery.ucl.ac.uk/1417767/.

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Familial Hypercholesterolaemia (FH) is a common autosomal dominant disorder of the defective plasma clearance of LDL-cholesterol. Mutations in three genes, LDLR/APOB/PCSK9, can be detected in 60-90% of definite FH patients. DNA-based testing for FH mutations has important clinical utility and is recommended by the UK and European guidelines to identify affected relatives. This thesis aimed to determine the frequency and spectrum of FH mutations in two independent cohorts of FH patients (from one Oxford lipid clinic, and of Indian background). The FH mutation spectrum was shown to be highly het

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