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Showing 1 to 20 of 394 for “"hereditary"”.

  1. Genetic Exploration of Hereditary Immune Diseases

    <p>An autoimmune disease is a condition arising from an abnormal immune response to a normal body part. There are at least 80 types of autoimmune diseases, rheumatoid arthritis and systemic sclerosis are two of them. My study focuses on these two diseases. Our hypothesis is that mutated genes lead …

    tenn-hsc Repository record for Genetic Exploration of Hereditary Immune Diseases (opens in a new tab)

  2. Mitochondrial dysfunction in hereditary optic neuropathies

    MITOCHONDRIAL DYSFUNCTION IN HEREDITARY OPTIC NEUROPATHIES Mitochondrial pathologies are a heterogeneous group of clinical manifestations characterized by oxidative phosphorylation impairment. At the beginning of their recognition mitochondrial pathologies were regarded as rare disorders but indeed …

    bologna Repository record for Mitochondrial dysfunction in hereditary optic neuropathies (opens in a new tab)

  3. Hereditary and inborn etiology of pediatric cancer

    … small subset of individuals develop OS due to a hereditary predisposition syndrome such as Li Fraumeni, Retinoblastoma, or Rothmund-Thompson syndrome. Mutations in the TP53, RB, and RECQL4 genes are highly penetrant and can confer up to a 90% chance of developing OS. We hypothesized that single …

    umn Repository record for Hereditary and inborn etiology of pediatric cancer (opens in a new tab)

  4. Managing Susceptibility to Hereditary Breast and Ovarian Cancer

    … carriers, managed their susceptibility to hereditary breast and ovarian cancer (HBOC). Thirty North American women ranging in age from 22 to 60 years responded to open-ended interviews. These interviews were analyzed using constant comparative method to generate a grounded theory. Managing …

    usd-thes Repository record for Managing Susceptibility to Hereditary Breast and Ovarian Cancer (opens in a new tab)

  5. Genetic basis of hereditary persistence of fetal haemoglobin

    … haemoglobinopathies. The frequency and range of hereditary persistence of fetal haemoglobin (HPFH) in the UK population was determined which was otherwise unknown. All 4 categories of deletion mutations were identified and demonstrated the high frequency of deletional HPFH in UK patients. Four …

    oxford-brookes Repository record for Genetic basis of hereditary persistence of fetal haemoglobin (opens in a new tab)

  6. On Schur algebras, Doty coalgebras and quasi-hereditary algebras

    … coalgebra A(n,r), and S(n,r) we know to be quasi-hereditary. Moreover, we call a finite dimensional coalgebra quasi-hereditary if its dual algebra is quasi-hereditary and hence, in the above cases, the Doty Coalgebras D_(n,p)(r) are also quasi-hereditary and thus have finite global dimension. We …

    whiterose Repository record for On Schur algebras, Doty coalgebras and quasi-hereditary algebras (opens in a new tab)

  7. The psychological impact of carrier status in hereditary disorders

    … at risk of being sole carriers of an X-linked hereditary disorder, Duchenne muscular dystrophy. Previous research most often assessed global self-esteem, thus problems in particular domains (such as future parental role or desirability as a mate) have generally been overlooked. Herein, a …

    unlv Repository record for The psychological impact of carrier status in hereditary disorders (opens in a new tab)

  8. Hereditary multiple exostosis : a study in abnormal bone growth

    Hereditary multiple exostosis is a generalised, heritable disorder of bone, characterised by the appearance of numerous cartilagecappecl exostoses at the juxta-epiphysial regions of the endochondral skeleton. The condition was apparently known even in Hunter's day and most of its characteristic …

    cape-town Repository record for Hereditary multiple exostosis : a study in abnormal bone growth (opens in a new tab)

  9. Optimal control of linear hereditary systems with quadratic criterion.

    Thesis (Ph. D.)--Massachusetts Institute of Technology, Dept. of Mathematics, 1973.

    mit Repository record for Optimal control of linear hereditary systems with quadratic criterion. (opens in a new tab)

  10. A transgenic mouse model of hereditary motor and sensory neuropathy

    … (CH) IS the most severe demyelinating form of Hereditary Motor and Sensory Neuropathies and manifests at birth in human. Some subtypes of CH are due to dominant mutations in the gene coding for PO glycoprotein, which functions as a homophilic adhesion protein, responsible for compaction of …

    the-open-u Repository record for A transgenic mouse model of hereditary motor and sensory neuropathy (opens in a new tab)

  11. Signalling pathway of FBXO7 and its role in hereditary Parkinsonism

    … with Mendelian autosomal inheritance (10-15%). Hereditary and sporadic PD share important clinical and neuropathological features, and there is reasonable hope that dissecting molecular pathways of PD gene products will have more general implications for the pathophysiology of PD associated …

    dundee Repository record for Signalling pathway of FBXO7 and its role in hereditary Parkinsonism (opens in a new tab)

  12. Chinese Hereditary Mathematician Families of the Astronomical Bureau, 1620-1850

    … digitized archival materials to reconstruct the hereditary mathematician families of the Astronomical Bureau in Qing China. The research found several patterns and strategies that these hereditary mathematician families exhibited during their long careers at the Astronomical Bureau. It found that …

    cuny-grad Repository record for Chinese Hereditary Mathematician Families of the Astronomical Bureau, 1620-1850 (opens in a new tab)

  13. Hereditary haematological disorders in the Greek population of Cape Town

    It is a recognized fact that most well defined population groups have their own typical pattern of inherited disorders. The genetic conditions most commonly found in Greek persons are the thalassaemias, glucose-6-dehydrogenase (G-6-PD) deficiency and, to a lesser extent, certain of the …

    cape-town Repository record for Hereditary haematological disorders in the Greek population of Cape Town (opens in a new tab)

  14. Hereditary non-polyposis colorectal carcinoma (HNPCC) : morphological and immunohistochemical studies

    Families with hereditary non-polyposis colorectal carcinoma (HNPCC) are not uncommon along the West-Coast of South Africa. These patients present with early onset carcinomas mostly colorectal, predominantly in the right colon. They may develop tumours of other organs, including uterus, breast, …

    cape-town Repository record for Hereditary non-polyposis colorectal carcinoma (HNPCC) : morphological and immunohistochemical studies (opens in a new tab)

  15. Assessing Patient Attitudes to ward Genetic Testing For Hereditary Hematologic Malignancy

    … 15 genes have been identified to predispose to hereditary hematologic malignancy (HHM). Although the diagnostic yield of germline analysis for leukemia is similar to solid tumors, referral for genetic evaluation in adults with leukemia is underperformed. Identifying HHM is important for …

    uthsc Repository record for Assessing Patient Attitudes to ward Genetic Testing For Hereditary Hematologic Malignancy (opens in a new tab)

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