Log in

Relevant bibliographies by topics / Homozygosis / Dissertations / Theses

To see the other types of publications on this topic, follow the link: Homozygosis.

Dissertations / Theses on the topic 'Homozygosis'

Author: Grafiati

Published: 3 June 2025

Last updated: 31 July 2025

Create a spot-on reference in APA, MLA, Chicago, Harvard, and other styles

Select a source type:

Consult the top 50 dissertations / theses for your research on the topic 'Homozygosis.'

Next to every source in the list of references, there is an 'Add to bibliography' button. Press on it, and we will generate automatically the bibliographic reference to the chosen work in the citation style you need: APA, MLA, Harvard, Chicago, Vancouver, etc.

You can also download the full text of the academic publication as pdf and read online its abstract whenever available in the metadata.

Browse dissertations / theses on a wide variety of disciplines and organise your bibliography correctly.

1

Wang, Hui. "Extended homozygosity in high density genotyping." Diss., Restricted to subscribing institutions, 2006. http://proquest.umi.com/pqdweb?did=1276395171&sid=1&Fmt=2&clientId=1564&RQT=309&VName=PQD.

Full text

APA, Harvard, Vancouver, ISO, and other styles

2

Mitchell, Wayne Adolphus. "The molecular genetics of Turkish variant late infantile neuronal ceroid lipofuscinosis (LINCL)." Thesis, University College London (University of London), 2001. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.250660.

Full text

APA, Harvard, Vancouver, ISO, and other styles

3

Gazal, Steven. "La consanguinité à l'ère du génome haut-débit : estimations et applications." Thesis, Paris 11, 2014. http://www.theses.fr/2014PA11T026/document.

Full text

Abstract:

Un individu est dit consanguin si ses parents sont apparentés et s’il existe donc dans sa généalogie au moins une boucle de consanguinité aboutissant à un ancêtre commun. Le coefficient de consanguinité de l’individu est par définition la probabilité pour qu’à un point pris au hasard sur le génome, l’individu ait reçu deux allèles identiques par descendance qui proviennent d’un seul allèle présent chez un des ancêtres communs. Ce coefficient de consanguinité est un paramètre central de la génétique qui est utilisé en génétique des populations pour caractériser la structure des populations, mai

APA, Harvard, Vancouver, ISO, and other styles

4

McQuillan, Ruth. "Homozygosity, inbreeding and health in European populations." Thesis, University of Edinburgh, 2009. http://hdl.handle.net/1842/5946.

Full text

Abstract:

Inbreeding results in increased levels of homozygosity for deleterious recessive alleles, leading to increased incidence of monogenic disease in inbred families. It has also been suggested that inbreeding increases the risk of diseases such as cancer and heart disease, implying a role for the combined effects of many recessive alleles distributed across the genome. A better understanding of the links between inbreeding, homozygosity and disease is therefore of interest to those concerned with understanding the genetic architecture of complex disease. A homozygous genotype is defined as autozyg

APA, Harvard, Vancouver, ISO, and other styles

5

Leung, Kwok-yin, та 梁國賢. "Prenatal ultrasound prediction of homozygous α⁰-thalassemia". Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2012. http://hub.hku.hk/bib/B47454039.

Full text

Abstract:

Homozygous α0-thalassemia is a serious autosomal recessive disorder with poor fetal outcome and severe maternal complications. Conventionally, prenatal diagnosis is performed by an invasive test. A non-invasive approach using serial ultrasonography can effectively reduce the need for invasive tests in unaffected pregnancies. For two-dimensional ultrasound prediction, a total of 777 at-risk fetuses were studied from 12 to 20 weeks between 1995 and 2006. At 12–15 weeks’ gestation, the highest sensitivity (98.3%) was achieved by the combination of fetal cardiothoracic ratio (CTR) and/o

APA, Harvard, Vancouver, ISO, and other styles

6

Mehawej, Cybel. "Identification de gènes impliqués dans des dysplasies osseuses rares dans des familles libanaises consanguines." Thesis, Paris 5, 2013. http://www.theses.fr/2013PA05T048/document.

Full text

Abstract:

La pratique du mariage entre apparentés au sein de la population libanaise, favorisée par des raisons sociales, religieuses, géographiques et aussi politiques, a vu apparaître des sous-groupes de populations de taille plus ou moins réduite, parfois à la limite d’isolats génétiques. Ceci a engendré une augmentation de la prévalence des maladies autosomiques récessives fréquentes mais aussi et surtout rares. Parmi ces dernières, les chondrodysplasies ont retenu notre attention. Elles sont caractérisées par un retard statural dû à un défaut du processus d’ossification endochondale, qui est respon

APA, Harvard, Vancouver, ISO, and other styles

7

Serpedin, Nesrin. "Abnormal reproductive function in female homozygous leaner mice." Texas A&M University, 2003. http://hdl.handle.net/1969.1/559.

Full text

Abstract:

The leaner mouse carries an autosomal recessive mutation in the α1A subunit of neuronal P/Q-type voltage gated calcium ion channels. Due to this mutation, the leaner mouse exhibits severe ataxia, absence seizures and paroxysmal dyskinesia. Mutations in this same gene in humans cause: episodic ataxia type 2, familial hemiplegic migraine, spinocerebellar ataxia type 6 and probably the newly recognized form of human inherited epilepsy. Decreased amplitude of calcium current in cerebellar Purkinje cells and decreased calcium buffering capacity suggest that failure of calcium homeostasis may lea

APA, Harvard, Vancouver, ISO, and other styles

8

Singhal, Atul. "Growth and metabolism in homozygous sickle cell disease." Thesis, University College London (University of London), 1998. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.288009.

Full text

APA, Harvard, Vancouver, ISO, and other styles

9

Peripolli, Elisa [UNESP]. "Characterization of runs of homozygosity in Gyr cattle genome." Universidade Estadual Paulista (UNESP), 2017. http://hdl.handle.net/11449/149772.

Full text

Abstract:

Submitted by ELISA PERIPOLLI null (elisa_peripolli@hotmail.com) on 2017-03-13T10:53:09Z No. of bitstreams: 1 Dissertação_Elisa_Peripolli.pdf: 1486638 bytes, checksum: 15fbc97f7599f86e3e8dcccabf250bab (MD5)<br>Approved for entry into archive by LUIZA DE MENEZES ROMANETTO (luizamenezes@reitoria.unesp.br) on 2017-03-20T13:45:26Z (GMT) No. of bitstreams: 1 peripolli_e_me_jabo.pdf: 1486638 bytes, checksum: 15fbc97f7599f86e3e8dcccabf250bab (MD5)<br>Made available in DSpace on 2017-03-20T13:45:26Z (GMT). No. of bitstreams: 1 peripolli_e_me_jabo.pdf: 1486638 bytes, checksum: 15fbc97f7599f86e3e8d

APA, Harvard, Vancouver, ISO, and other styles

10

Flegel, Willy A. "Häufigkeit sporadischer nicht-funktionaler Allele und ihre Bedeutung für die Genotypisierung am Beispiel des Polymorphismus im FUT1-Blutgruppengen." Ulm : Universität Ulm, Medizinische Fakultät, 1997. http://www.bsz-bw.de/cgi-bin/xvms.cgi?SWB8412711.

Full text

APA, Harvard, Vancouver, ISO, and other styles

11

Guissart, Claire. "Identification de nouveaux gènes d'ataxies récessives syndromiques : implication des désordres métaboliques modérés." Thesis, Montpellier, 2016. http://www.theses.fr/2016MONT3506.

Full text

Abstract:

Les ataxies héréditaires représentent un groupe hétérogène de maladies neurodégénératives caractérisées par des anomalies de la coordination des mouvements associées à des troubles de l’équilibre et de la marche. L’immense diversité fonctionnelle des protéines touchées dans les ataxies autosomiques récessives (AR) souligne que celles-ci ne peuvent pas être classées selon les voies physiopathologiques en cause. De ce constat résulte une classification émergente des AR en fonction de la raison expliquant la nature « modérée » de l’atteinte neurologique, à savoir : (i) les mutations avec perte de

APA, Harvard, Vancouver, ISO, and other styles

12

Joshi, Peter K. "Exploring the inheritance of complex traits in humans." Thesis, University of Edinburgh, 2015. http://hdl.handle.net/1842/21118.

Full text

Abstract:

I explore the genetic and environmental basis of inheritance using modern techniques, in particular high-density genotyping arrays, and older techniques, in particular family history, to explore some longstanding questions about the way we inherit complex traits. Using pedigree data and the parent-offspring regression technique, I estimate narrow sense heritability (h2) of human lifespan in 20th Century Scotland as 0.16, lower than commonly cited studies in other populations. I also observe similar concordance between spouses as between parents and offspring - suggesting my estimate of heritab

APA, Harvard, Vancouver, ISO, and other styles

13

林勇行 and Yung-hang Lam. "Sonographic features of fetuses with homozygous [alpha]-thalassaemia-1during early pregnancy." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2001. http://hub.hku.hk/bib/B31981744.

Full text

APA, Harvard, Vancouver, ISO, and other styles

14

Cimò, Giuseppe. "Ploidy manipulation for genetic improvement in some Mediterranean fruit crops." Doctoral thesis, Universitat Politècnica de València, 2017. http://hdl.handle.net/10251/79874.

Full text

Abstract:

Plant breeding is focused on selection of new genotypes with improved traits. Conventional methods based on hybridization and those based on biotechnology (somatic hybridization, genetic transformation, ploidy manipulation, etc.) are used to create novel genetic variations. Biotechnology provides powerful tools for plant breeding, for instance, haploid technology allows achievement of homozygous lines from heterozygous parents in one step, which reduces significantly the time required by conventional methods. Concerning woody species, characterized by self-incompatibility, long juvenile period

APA, Harvard, Vancouver, ISO, and other styles

15

Reber, Sean Cameron. "Discovery And Visual Analysis of Tracts of Homozygosity In The Human Genome." Kent State University / OhioLINK, 2013. http://rave.ohiolink.edu/etdc/view?acc_num=kent1365617689.

Full text

APA, Harvard, Vancouver, ISO, and other styles

16

Yeung, Tin-wai, and 楊天慧. "Use of three-dimensional ultrasound in the prediction of homozygous alpha0-thalassemia." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2008. http://hub.hku.hk/bib/B41290616.

Full text

APA, Harvard, Vancouver, ISO, and other styles

17

Yeung, Tin-wai. "Use of three-dimensional ultrasound in the prediction of homozygous alpha0-thalassemia." Click to view the E-thesis via HKUTO, 2008. http://sunzi.lib.hku.hk/hkuto/record/B41290616.

Full text

APA, Harvard, Vancouver, ISO, and other styles

18

Lam, Yung-hang. "Sonographic features of fetuses with homozygous [alpha]-thalassaemia-1 during early pregnancy." Hong Kong : University of Hong Kong, 2001. http://sunzi.lib.hku.hk:8888/cgi-bin/hkuto%5Ftoc%5Fpdf?B23373295.

Full text

APA, Harvard, Vancouver, ISO, and other styles

19

Keller, Bigna Magdalena. "Growth in prepubertal children with cystic fibrosis, homozygous for the \223DF508 mutation /." [S.l.] : [s.n.], 2001. http://www.ub.unibe.ch/content/bibliotheken_sammlungen/sondersammlungen/dissen_bestellformular/index_ger.html.

Full text

APA, Harvard, Vancouver, ISO, and other styles

20

Bismuth, Michaël. "Homozygotie H63D : existe-t'il un lien avec l'hémochromatose génétique et les surcharges martiales ?" Montpellier 1, 1999. http://www.theses.fr/1999MON11008.

Full text

APA, Harvard, Vancouver, ISO, and other styles

21

Merlet, Angèle. "EFFETS D’UN ENTRAINEMENT EN ENDURANCE SUR LES CARACTERISTIQUES MUSCULAIRES DES PATIENTS DREPANOCYTAIRES HOMOZYGOTES." Thesis, Lyon, 2018. http://www.theses.fr/2018LYSES036.

Full text

Abstract:

La drépanocytose est une hémoglobinopathie génétique ayant pour conséquences une anémie hémolytique chronique et sévère et des crises vaso-occlusives itératives. Cette pathologie s’accompagne également d’une intolérance à l’effort et d’altérations de la fonction et du tissu musculaire. Récemment, nous avons pu montrer, par une étude contrôlée et randomisée, l’innocuité et les bénéfices fonctionnels d’un programme d’entrainement en endurance, d’intensité modérée, chez des patients drépanocytaires. L’objectif de ce travail doctoral a été d’évaluer les effets de ce programme d’entrainement sur le

APA, Harvard, Vancouver, ISO, and other styles

22

Becker, Achim. "Kartierung eines Genorts für Nephronophthise Typ 4 auf Chromosom 1p36 durch reverse Homozygotie-Kartierung." [S.l.] : [s.n.], 2004. http://deposit.ddb.de/cgi-bin/dokserv?idn=973066946.

Full text

APA, Harvard, Vancouver, ISO, and other styles

23

Gessi, A. "Genome-wide homozygosity mapping in Congenital Hyperinsulinism of Infancy (CHI) :a family based study." Doctoral thesis, Università degli Studi di Milano, 2009. http://hdl.handle.net/2434/64199.

Full text

Abstract:

Congenital hyperinsulinism of infancy (CHI) is a pathology characterized by a profound hypoglicaemia related to a disregulated insulin secretion; the frequency of the disease is 1:30000-50000 live birth world –wide, but in same isolated populations with high consanguinity like the Arabic Peninsula, frequency of 1:2500 is reported. At present it is well known that dysfunctions of pancreatic - cells K-ATP channel are a common cause of CHI. The two subunits of the channel are coded by two genes, KCNJ11 and ABCC8. Mutations in ABCC8 gene are responsible of the 50-60% of focal and diffuse CHI pati

APA, Harvard, Vancouver, ISO, and other styles

24

Hargrave, Darren Russell. "Characterisation of a Novel Homozygous Deletion Cluster on the Long Arm of Chromosome 3." Thesis, Institute of Cancer Research (University Of London), 2010. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.516271.

Full text

APA, Harvard, Vancouver, ISO, and other styles

25

Pettitt, Stephen John. "Isolation of homozygous mutant mouse embryonic stem cells by selection for copy number increase." Thesis, University of Cambridge, 2010. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.609123.

Full text

APA, Harvard, Vancouver, ISO, and other styles

26

Sawyer, My Linn. "Analysis of larval and adult cuticles of posterior bithorax-complex mutant homozygotes in drosophila melanogaster." Honors in the Major Thesis, University of Central Florida, 1990. http://digital.library.ucf.edu/cdm/ref/collection/ETH/id/0.

Full text

Abstract:

This item is only available in print in the UCF Libraries. If this is your Honors Thesis, you can help us make it available online for use by researchers around the world by following the instructions on the distribution consent form at http://library.ucf.edu/Systems/DigitalInitiatives/DigitalCollections/InternetDistributionConsentAgreementForm.pdf You may also contact the project coordinator, Kerri Bottorff, at kerri.bottorff@ucf.edu for more information.<br>Bachelors<br>Arts and Sciences<br>Biological Sciences

APA, Harvard, Vancouver, ISO, and other styles

27

Herrera, Rios Ana Cristina. "Genome scan for homozygosity islands and inbreeding effect on reproductive traits in nelore beef cattle." Universidade Estadual Paulista (UNESP), 2018. http://hdl.handle.net/11449/155941.

Full text

Abstract:

Submitted by Ana Cristina Herrera Rios (anacristinah@gmail.com) on 2018-09-06T21:12:03Z No. of bitstreams: 1 Herrera_a_ma_jabo.pdf: 1549720 bytes, checksum: cc3a9f221086386bf628813bbc967443 (MD5)<br>Approved for entry into archive by Neli Silvia Pereira null (nelisps@fcav.unesp.br) on 2018-09-10T16:57:12Z (GMT) No. of bitstreams: 1 herrerarios_ac_dr_jabo.pdf: 1549720 bytes, checksum: cc3a9f221086386bf628813bbc967443 (MD5)<br>Made available in DSpace on 2018-09-10T16:57:12Z (GMT). No. of bitstreams: 1 herrerarios_ac_dr_jabo.pdf: 1549720 bytes, checksum: cc3a9f221086386bf628813bbc967443 (MD5

APA, Harvard, Vancouver, ISO, and other styles

28

Aippersbach, Elke Daniela. "Targeted disruption of the Grb4 and Nck loci and generation of homozygous null nck mice." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1998. http://www.collectionscanada.ca/obj/s4/f2/dsk1/tape10/PQDD_0004/MQ40788.pdf.

Full text

APA, Harvard, Vancouver, ISO, and other styles

29

Hu, Qian. "Homozygous deletion of CDKN2A/2B is a hallmark of iron-induced high-grade rat mesothelioma." Kyoto University, 2010. http://hdl.handle.net/2433/120567.

Full text

APA, Harvard, Vancouver, ISO, and other styles

30

Hammond-McKibben, Denise M. "Effect of homozygous lpr and gld mutations on the immune functions and induction of autoimmunity." Diss., This resource online, 1995. http://scholar.lib.vt.edu/theses/available/etd-06062008-162732/.

Full text

APA, Harvard, Vancouver, ISO, and other styles

31

SCRIMALI, Chiara. "A novel therapeutic strategy to cure the Homozygous Familial Hypercholesterolemia with residual LDL receptor activity." Doctoral thesis, Università degli Studi di Palermo, 2020. http://hdl.handle.net/10447/395446.

Full text

APA, Harvard, Vancouver, ISO, and other styles

32

Grote, Lauren E. "Variability in Laboratory Reporting and Genetic Counseling for Regions of Homozygosity Associated With Parental Consanguinity/Incest." University of Cincinnati / OhioLINK, 2012. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1337950675.

Full text

APA, Harvard, Vancouver, ISO, and other styles

33

Ichise, Hiroshi. "NK cell alloreactivity against KIR-ligand-mismatched HLA-haploidentical tissue derived from HLA haplotype-homozygous iPSCs." Kyoto University, 2017. http://hdl.handle.net/2433/228232.

Full text

APA, Harvard, Vancouver, ISO, and other styles

34

Gibson, Jane. "Defining linkage disequilibrium patterns and tracts of extended homozygosity to compare populations and search for disease genes." Thesis, University of Southampton, 2008. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.509463.

Full text

APA, Harvard, Vancouver, ISO, and other styles

35

O'Brien, Christopher. "Marker-Assisted Breeding for Papaya Ringspot Virus Resistance in Carica papaya L." Thesis, Griffith University, 2010. http://hdl.handle.net/10072/365618.

Full text

Abstract:

There have been numerous attempts to transfer Papaya ringspot virus-Type P (PRSV-P) resistance from wild Vasconcellea relatives (Vasconcellea pubescens, Vasconcellea stipulata, Vasconcellea cauliflora and Vasconcellea quercilfolia) to Carica papaya. Success has been limited by the high degree of genetic divergence and thus incompatibility between Vasconcellea species and C. papaya. This has resulted in infertility of intergeneric F1 hybrids and failure to perform backcrosses which are essential to transfer PRSV-P resistance to C. papaya. However, there has been success in producing intergeneri

APA, Harvard, Vancouver, ISO, and other styles

36

Daak, Ahmed Abd Almalik. "Clinical and biochemical effects of omega-3 fatty acid supplementation on patients with homozygous sickle cell disease." Thesis, London Metropolitan University, 2011. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.549556.

Full text

APA, Harvard, Vancouver, ISO, and other styles

37

Kobayashi, Hiromasa. "A novel homozygous missense mutation of melanocortin-4 receptor (MC4R) in a Japanese woman with severe obesity." Kyoto University, 2004. http://hdl.handle.net/2433/148274.

Full text

APA, Harvard, Vancouver, ISO, and other styles

38

Ali, Saima. "Bbs7 and Bbs10 Homozygosity cause Structural and Functional Deficits in Inbred Mouse Olfactory Sensory Neuronal Cilia and Postnatal Lethality." University of Cincinnati / OhioLINK, 2020. http://rave.ohiolink.edu/etdc/view?acc_num=ucin159584918365351.

Full text

APA, Harvard, Vancouver, ISO, and other styles

39

IACOMINO, MICHELE. "IDENTIFICAZIONE DI NUOVI GENI RESPONSABILI DI MALATTIE RARE DEL NEUROSVILUPPO TRAMITE HOMOZYGOSITY MAPPING E/O SEQUENZIAMENTO DI NUOVA GENERAZIONE." Doctoral thesis, Università degli studi di Genova, 2019. http://hdl.handle.net/11567/945473.

Full text

Abstract:

The genetics of most common single-gene neurological disorders has been dissected in the last twenty years. However, the aetiology of several rare Mendelian neurological conditions is still unknown, with significant implications for diagnosis, genetic counselling and therapy. So far the identification of genes for these rare conditions have been constrained by methodological issues, such as the shortage of informative families for linkage analysis, the lack of very dense maps of polymorphic markers and the availability of efficient and low-cost platforms for genotyping and sequencing. Recent

APA, Harvard, Vancouver, ISO, and other styles

40

Saito, Hidehiko, Shigeru Shirakawa, Katsumi Deguchi, et al. "Homozygous protein C deficiency: identification of a novel missense mutation that causes impaired secretion of the mutant protein C." Thesis, Elsevier, 1992. http://hdl.handle.net/2237/16344.

Full text

APA, Harvard, Vancouver, ISO, and other styles

41

ROUDIL, FRANCOISE. "Role de l'exposition solaire sur l'induction ou l'expression des naevus melanocytaires : a propos d'une enquete sur des couples de jumeaux homozygotes." Aix-Marseille 2, 1994. http://www.theses.fr/1994AIX20001.

Full text

APA, Harvard, Vancouver, ISO, and other styles

42

Amm, Annabelle. "Contribution à l’estimation des potentialités de migration des essences forestières face au changement climatique : Le cas du sapin pectiné (Abies alba Miller) sur le Mont Ventoux." Thesis, Aix-Marseille 3, 2011. http://www.theses.fr/2011AIX30006/document.

Full text

Abstract:

Le changement climatique (CC) actuel, très rapide, va imposer aux espèces de faire évoluer leurs traits d’histoire de vie ou leur aire de répartition. En raison de leur long cycle reproductif, les arbres pourraient ne pas avoir la capacité à s’adapter suffisamment vite et leur aptitude à la migration devrait être déterminante. Les vitesses de colonisation des essences forestières lors de l'holocène ont fortement été revues à la baisse aux cours de la dernière décennie (quelques centaines contre quelques centaines de m/an). Dans ce contexte et en s'appuyant sur le sapin pectiné (Abies alba Mill

APA, Harvard, Vancouver, ISO, and other styles

43

Ittig, Boo Isabel. "PK Aarau : first homozygous nonsense mutation causing pyruvate kinase deficiency = Hereditäre Enzymdefekte der Erythrozyten : Glukose-6-Phosphatedehydrogenase-Mangel und Pyruvatkinase-Mangel /." Bern : [s.n.], 2006. http://www.ub.unibe.ch/content/bibliotheken_sammlungen/sondersammlungen/dissen_bestellformular/index_ger.html.

Full text

Abstract:

Diss. Univ. Bern, 2006.<br>Ein Artikel in engl. Sprache, ein Artikel in dt. Sprache. Sonderdruck aus: British Journal of Haematology, Vol. 127, S. 364-366 (2004). Sonderdruck aus: Therapeutische Umschau, Bd. 63, H. 1, S. 47-56 (2006).

APA, Harvard, Vancouver, ISO, and other styles

44

Сhurbanov, Alexander Y., Tatiana M. Karafet, Igor V. Morozov, et al. "Whole Exome Sequencing Reveals Homozygous Mutations in RAI1, OTOF, and SLC26A4 Genes Associated with Nonsyndromic Hearing Loss in Altaian Families (South Siberia)." Public Library of Science, 2016. http://hdl.handle.net/10150/614680.

Full text

Abstract:

Hearing loss (HL) is one of the most common sensorineural disorders and several dozen genes contribute to its pathogenesis. Establishing a genetic diagnosis of HL is of great importance for clinical evaluation of deaf patients and for estimating recurrence risks for their families. Efforts to identify genes responsible for HL have been challenged by high genetic heterogeneity and different ethnic-specific prevalence of inherited deafness. Here we present the utility of whole exome sequencing (WES) for identifying candidate causal variants for previously unexplained nonsyndromic HL of seven pat

APA, Harvard, Vancouver, ISO, and other styles

45

H'Mida-Ben, Brahim Dorra. "Diagnostic moléculaire par cartographie par homozygotie des ataxies autosomiques récessives et recherche du gène impliqué dans une nouvelle forme d’ataxie récessive non progressive." Strasbourg, 2009. https://publication-theses.unistra.fr/public/theses_doctorat/2009/H'MIDA-BEN_BRAHIM_Dorra_2009.pdf.

Full text

Abstract:

Le diagnostic des pathologies héréditaires rares devient de plus en plus difficile à cause de leur origine multigénique. Cette multigénicité est très bien illustrée par les ataxies autosomiques récessives. A ce jour 14 gènes responsables d’ataxies autosomiques récessives ainsi que plusieurs loci ont été identifiés. Cependant plusieurs gènes restent à découvrir. J’ai dans ce travail adopté une stratégie de clonage positionnel, et plus précisément de cartographie par homozygotie utilisant les puces de génotypage SNP à la recherche de nouveaux gènes impliqués dans les ataxies récessives. J’ai dan

APA, Harvard, Vancouver, ISO, and other styles

46

Tanaka, Hideo, Kazuo Tajima, Toshiro Takezaki, et al. "Impact of smoking on lung cancer risk is stronger in those with the homozygous aldehyde dehydrogenase 2 null allele in a Japanese population." Thesis, Oxford University Press, 2010. http://hdl.handle.net/2237/14923.

Full text

APA, Harvard, Vancouver, ISO, and other styles

47

Wagner, Kate J. "Examination of the role of the Wilms' tumour suppressor gene (Wt1) in mouse development and neoplasia using a homozygous Denys-Drash syndrome mutation." Thesis, University of Edinburgh, 2001. http://hdl.handle.net/1842/23238.

Full text

Abstract:

Denys-Drash syndrome, which is characterised by genitourinary abnormalities, a type of progressive nephropathy known as mesangial sclerosis and the development of Wilms' tumours, results from mutations in the zinc finger-coding region of one copy of the <i>WT1</i> gene. Murine ES cells from the CGR8 line with DDS-type mutations in both <i>Wt1</i> alleles (compound heterozygotes) were produced by gene targeting and their properties compared with wild-type and DDS heterozygous cells. To distinguish between effects of the <i>Wt1 </i>mutations and of alterations elsewhere in the genome, cells of t

APA, Harvard, Vancouver, ISO, and other styles

48

Fischer, Judith. "Génétique des maladies dermatologiques avec l'exemple des kératodermies palmoplantaires, des ichtyoses récessives et du psoriasis." Paris 7, 2002. http://www.theses.fr/2002PA077081.

Full text

APA, Harvard, Vancouver, ISO, and other styles

49

Cieslak, Stephen Gerard. "The Effects of L-Cysteine on Alzheimer's Disease Pathology in APOE2, APOE3, and APOE4 Homozygous Mice." BYU ScholarsArchive, 2016. https://scholarsarchive.byu.edu/etd/6585.

Full text

Abstract:

The APOE gene is of profound importance regarding the onset of Alzheimer's disease (AD). From the small physical differences among the protein products of the isoforms of this gene arises a profound difference in their physiologies. For example, the APOE2 isoform confers resistance to AD, the APOE3 isoform confers neutral susceptibility to AD, and the APOE4 isoform confers proneness to AD. L-cysteine is an amino acid that has several anti-AD properties, among which are its ability to sequester iron and form glutathione – a powerful antioxidant – and therefore may be a promising potential dieta

APA, Harvard, Vancouver, ISO, and other styles

50

Bezold, Viola Verfasser], and André [Akademischer Betreuer] [Reis. "Identifizierung von Genen für autosomal-rezessiv vererbte mentale Retardierung: Mutationsscreening im TUSC3-Gen und Homozygotie Kartierung zur Identifizierung neuer Genloci / Viola Bezold. Betreuer: André Reis." Erlangen : Universitätsbibliothek der Universität Erlangen-Nürnberg, 2013. http://d-nb.info/1029869448/34.

Full text

APA, Harvard, Vancouver, ISO, and other styles

We offer discounts on all premium plans for authors whose works are included in thematic literature selections. Contact us to get a unique promo code!