Search Results - "Viassolo, V"

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    Inclusion body myopathy, Paget's disease of the bone and frontotemporal dementia: recurrence of the VCP R155H mutation in an Italian family and implications for genetic counselling by Viassolo, V, Previtali, SC, Schiatti, E, Magnani, G, Minetti, C, Zara, F, Grasso, M, Dagna-Bricarelli, F, Di Maria, E

    Published in Clinical genetics (01-07-2008)
    “…The acronym IBMPFD denotes a syndrome including inclusion body myopathy, Paget’s disease of the bone (PDB) and frontotemporal dementia (FTD) as cardinal…”
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    Journal Article
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    A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and “patchy” expression in the mosaic father by Forzano, F., Lituania, M., Viassolo, A., Superti‐Furga, V., Wildhardt, G., Zabel, B., Faravelli, F.

    “…Achondrogenesis type II (ACG2) is the most severe disorder that can be produced by dominant mutations in COL2A1. We report on four pregnancies of an apparently…”
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    Journal Article
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    Abstract P3-03-05: Association between BRCA1 and BRCA2 mutations and survival in breast cancer patients according to molecular subtype by Tredan, O, De Talhouet, S, Peron, J, Friedlaender, A, Vuilleumier, A, Viassolo, V, Ayme, A, Chappuis, PO, Buisson, A, Bonadona, V, Bodmer, A, Labidi-Galy, SI

    Published in Cancer research (Chicago, Ill.) (15-02-2018)
    “…Abstract Background: Germline mutations in BRCA1/BRCA2 genes increase the risk of breast and ovarian cancers. In ovarian cancer patients (pts) treated with…”
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    Prognostic significance of BRCA1, PARP1, and PARP2 in sporadic breast cancer by Gennari, A., Sormani, M., Varesco, L., Pronzato, P., Viassolo, V., Mirisola, V., Pfeffer, U., Bruzzi, P.

    Published in Journal of clinical oncology (20-05-2009)
    “…Abstract only e22114 Background: Breast cancer susceptibility gene (BRCA1) is a tumor suppressor gene whose mutation is associated with the development of…”
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    Journal Article
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