Search Results - Díaz-Font, Anna

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  1. 1
    COLEC10 is mutated in 3MC patients and regulates early craniofacial development

    COLEC10 is mutated in 3MC patients and regulates early craniofacial development by Munye, Mustafa M, Diaz-Font, Anna, Ocaka, Louise, Henriksen, Maiken L, Lees, Melissa, Brady, Angela, Jenkins, Dagan, Morton, Jenny, Hansen, Soren W, Bacchelli, Chiara, Beales, Philip L, Hernandez-Hernandez, Victor

    Published in PLoS genetics
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  2. 2
    Clinical and mutational characterization of three patients with multiple sulfatase deficiency: Report of a new splicing mutation

    Clinical and mutational characterization of three patients with multiple sulfatase deficiency: Report of a new splicing mutation by Díaz-Font, Anna, Santamaría, Raül, Cozar, Mònica, Blanco, Mariana, Chamoles, Néstor, Coll, Maria Josep, Chabás, Amparo, Vilageliu, Lluïsa, Grinberg, Daniel

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  3. 3
    Trends in International Cancer Research Investment 2006-2018

    Trends in International Cancer Research Investment 2006-2018 by Abudu, Rachel, Bouche, Gauthier, Bourougaa, Karima, Davies, Lynne, Duncan, Kalina, Estaquio, Carla, Font, Anna Diaz, Hurlbert, Marc S, Jackson, Paul, Kroeskop-Bossenbroek, Linda, Lewis, Ian, Mitrou, Giota, Mutabbir, Abdul, Pettigrew, Christopher A, Turner, Lynn, Weerman, Annemarie, Wojtanik, Kari

    Published in JCO global oncology
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  4. 4
    Gene rearrangements in the glucocerebrosidase-metaxin region giving rise to disease-causing mutations and polymorphisms. Analysis of 25 RecNciI alleles in Gaucher disease patients

    Gene rearrangements in the glucocerebrosidase-metaxin region giving rise to disease-causing mutations and polymorphisms. Analysis of 25 RecNciI alleles in Gaucher disease patients by DIAZ-FONT, Anna, CORMAND, Bru, BLANCO, Mariana, CHAMOLES, Néstor, CHABAS, Amparo, GRINBERG, Daniel, VILAGELIU, Lluïsa

    Published in Human genetics
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  5. 5
    New Insights into the Origin of the Gaucher Disease-Causing Mutation N370S: Extended Haplotype Analysis Using the 5GC3.2, 5470 G/A, and ITG6.2 Polymorphisms

    New Insights into the Origin of the Gaucher Disease-Causing Mutation N370S: Extended Haplotype Analysis Using the 5GC3.2, 5470 G/A, and ITG6.2 Polymorphisms by Rodrı́guez-Marı́, Adriana, Dı́az-Font, Anna, Chabás, Amparo, Pastores, Gregory M., Grinberg, Daniel, Vilageliu, Lluı̈sa

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  6. 6
    Perinatal lethal phenotype with generalized ichthyosis in a type 2 Gaucher disease patient with the [L444P;E326K]/P182L genotype: Effect of the E326K change in neonatal and classic forms of the disease

    Perinatal lethal phenotype with generalized ichthyosis in a type 2 Gaucher disease patient with the [L444P;E326K]/P182L genotype: Effect of the E326K change in neonatal and classic... by Chabás, Amparo, Gort, Laura, Díaz-Font, Anna, Montfort, Magdalena, Santamaría, Raül, Cidrás, Manuel, Grinberg, Daniel, Vilageliu, Lluïsa

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  7. 7
    Bardet-Biedl syndrome proteins control the cilia length through regulation of actin polymerization

    Bardet-Biedl syndrome proteins control the cilia length through regulation of actin polymerization by Hernandez-Hernandez, Victor, Pravincumar, Priyanka, Diaz-Font, Anna, May-Simera, Helen, Jenkins, Dagan, Knight, Martin, Beales, Philip L

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  8. 8
    A mutation within the saposin D domain in a Gaucher disease patient with normal glucocerebrosidase activity

    A mutation within the saposin D domain in a Gaucher disease patient with normal glucocerebrosidase activity by DIAZ-FONT, Anna, CORMAND, Bru, SANTAMARIA, Raül, VILAGELIU, Lluïsa, GRINBERG, Daniel, CHABAS, Amparo

    Published in Human genetics
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  9. 9
    Gene rearrangements in the glucocerebrosidase-metaxin region giving rise to disease-causing mutations and polymorphisms. Analysis of 25 Rec NciI alleles in Gaucher disease patients

    Gene rearrangements in the glucocerebrosidase-metaxin region giving rise to disease-causing mutations and polymorphisms. Analysis of 25 Rec NciI alleles in Gaucher disease patients by Díaz-Font, Anna, Cormand, Bru, Blanco, Mariana, Chamoles, Néstor, Chabás, Amparo, Grinberg, Daniel, Vilageliu, Lluïsa

    Published in Human genetics
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  10. 10
    How to Shape Cells and Influence Polarized Protein Trafficking

    How to Shape Cells and Influence Polarized Protein Trafficking by Diaz-Font, Anna, Beales, Philip L.

    Published in Developmental cell
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  11. 11
    Unsuccessful chimeraplast strategy for the correction of a mutation causing Gaucher disease

    Unsuccessful chimeraplast strategy for the correction of a mutation causing Gaucher disease by Diaz-Font, Anna, Cormand, Bru, Chabás, Amparo, Vilageliu, Lluïsa, Grinberg, Daniel

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  12. 12
    RNAi-mediated inhibition of the glucosylceramide synthase ( GCS) gene: A preliminary study towards a therapeutic strategy for Gaucher disease and other glycosphingolipid storage diseases

    RNAi-mediated inhibition of the glucosylceramide synthase ( GCS) gene: A preliminary study towards a therapeutic strategy for Gaucher disease and other glycosphingolipid storage di... by Diaz-Font, Anna, Chabás, Amparo, Grinberg, Daniel, Vilageliu, Lluïsa

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