Search Results - "Pereira, L.V"

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    Stability of XIST repression in relation to genomic imprinting following global genome demethylation in a human cell line by Araújo, E S S de, Vasques, L R, Stabellini, R, Krepischi, A C V, Pereira, L V

    “…DNA methylation is essential in X chromosome inactivation and genomic imprinting, maintaining repression of XIST in the active X chromosome and monoallelic…”
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    Journal Article
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    Candidate gene linkage analysis indicates genetic heterogeneity in Marfan syndrome by Teixeira, L V S, Lezirovitz, K, Mandelbaum, K L, Pereira, L V, Perez, A B A

    “…Marfan syndrome (MFS) is an autosomal dominant disease of the connective tissue that affects the ocular, skeletal and cardiovascular systems, with a wide…”
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    High frequency of mutation G377S in Brazilian type 3 Gaucher disease patients by Rozenberg, R, Araújo, F T, Fox, D C, Aranda, P, Nonino, A, Micheletti, C, Martins, A M, Cravo, R, Sobreira, E, Pereira, L V

    “…Gaucher disease (GD), the most prevalent lysosome storage disorder, presents an autosomal recessive mode of inheritance. It is a paradigm for therapeutic…”
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    Proper orthogonal decomposition and smooth orthogonal decomposition approaches for pattern recognition: Application to a gas turbine rub-impact fault by Pereira, L.V., Ritto, T.G.

    Published in Journal of sound and vibration (27-10-2021)
    “…This paper aims to investigate the rub-impact fault of a gas turbine using the proper orthogonal decomposition (POD) and the smooth orthogonal decomposition…”
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    Methotrexate associated with a lipid core nanoparticle prevented the dilation and dissection of the aortic arch in mice with Marfan syndrome by Guido, M.C, Lopes, N.M, Albuquerque, C.I, Tavares, E.R, Jensen, L, Pereira, L.V, Kalil-Filho, R, Laurindo, F.R.M, Maranhao, R.C

    Published in European heart journal (01-11-2020)
    “…Abstract Introduction Mutations in the fibrillin-1 gene result in dilation, dissection and rupture of the aorta, the main cause of mortality in patients with…”
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    Establishment of new murine embryonic stem cell lines for the generation of mouse models of human genetic diseases by Sukoyan, M A, Kerkis, A Y, Mello, M R B, Kerkis, I E, Visintin, J A, Pereira, L V

    “…Embryonic stem cells are totipotent cells derived from the inner cell mass of blastocysts. Recently, the development of appropriate culture conditions for the…”
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    Candidate gene linkage analysis indicates genetic heterogeneity in Marfan syndrome by L.V.S. Teixeira, K.L. Mandelbaum, L.V. Pereira, A.B.A. Perez

    “…Marfan syndrome (MFS) is an autosomal dominant disease of the connective tissue that affects the ocular, skeletal and cardiovascular systems, with a wide…”
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    Detection of 12 new mutations in Gaucher disease Brazilian patients by Rozenberg, R., Fox, D.C., Sobreira, E., Pereira, L.V.

    Published in Blood cells, molecules, & diseases (01-11-2006)
    “…Gaucher disease is the most frequent lysosome storage disease and presents an autosomal recessive mode of inheritance. It is caused by mutations at the GBA…”
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    Diagnosis and Molecular Characterization of Nonclassic Forms of Tay-Sachs Disease in Brazil by Rozenberg, R., Kok, F., Burin, M.G., Sá Miranda, M.C., Vasques, C., Henriques-Souza, A.M.M., Giugliani, R., Vainzof, Mariz, Pereira, L.V.

    Published in Journal of child neurology (01-06-2006)
    “…Molecular analysis of five Brazilian families, including eight patients presenting with nonclassic Tay-Sachs disease, was performed to identify frequent…”
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    Description of the pre-reductional sex chromosome during male meiosis of Pachylis laticornis (Heteroptera: Coreidae) by Banho, C A, Alevi, K C C, Pereira, L L V, Souza-Firmino, T S, Itoyama, M M

    Published in Genetics and molecular research (01-01-2016)
    “…In Heteroptera, the division of sex chromosomes is well defined as post-reductional for most of species, i.e., the first meiotic division is equational and the…”
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