Search Results - "Attard, Marlene"

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    Polymorphism in wild-type p53 modulates response to chemotherapy in vitro and in vivo by SULLIVAN, Alexandra, SYED, Nelofer, CROOK, Tim, GASCO, Milena, BERGAMASCHI, Daniele, TRIGIANTE, Giuseppe, ATTARD, Marlene, HILLER, Louise, FARRELL, Paul J, SMITH, Paul, XIN LU

    Published in Oncogene (22-04-2004)
    “…A single-nucleotide polymorphism (SNP) in exon 4 results in expression of either arginine (72R) or proline (72P) at codon 72 of p53. We demonstrate that the in…”
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    Journal Article
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    Structure of the Human Sarco/Endoplasmic Reticulum Ca2+-ATPase 3 Gene by Dode, Leonard, De Greef, Christine, Mountian, Irina, Attard, Marlene, Town, Margaret M., Casteels, Rik, Wuytack, Frank

    Published in The Journal of biological chemistry (29-05-1998)
    “…Human chromosome 17-specific genomic clones extending over 90 kilobases (kb) of DNA and coding for sarco/endoplasmic reticulum Ca2+-ATPase 3 (SERCA3) were…”
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    A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis by Hoff, William van't, Bates, Gillian P, Antignac, Corinne, Jean, Geneviève, Forestier, Lionel, Gribouval, Olivier, Whitmore, Scott A, Town, Margaret, Broyer, Michel, Cherqui, Stèphanie, Attard, Marlene, Callen, David F

    Published in Nature genetics (01-04-1998)
    “…Nephropathic cystinosis, an autosomal recessive disorder resulting from defective lysosomal transport of cystine, is the most common inherited cause of renal…”
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    Severity of phenotype in cystinosis varies with mutations in the CTNS gene : predicted effect on the model of cystinosin by ATTARD, M, JEAN, G, FORESTIER, L, CHERQUI, S, VAN'T HOFF, W, BROYER, M, ANTIGNAC, C, TOWN, M

    Published in Human molecular genetics (01-12-1999)
    “…Infantile nephropathic cystinosis is a rare, autosomal recessive disease caused by a defect in the transport of cystine across the lysosomal membrane and…”
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    Molecular Characterization of CTNS Deletions in Nephropathic Cystinosis: Development of a PCR-Based Detection Assay by Forestier, Lionel, Jean, Geneviève, Attard, Marlene, Cherqui, Stéphanie, Lewis, Cathryn, van't Hoff, William, Broyer, Michel, Town, Margaret, Antignac, Corinne

    Published in American journal of human genetics (01-08-1999)
    “…Nephropathic cystinosis is an autosomal recessive disorder that is characterized by accumulation of intralysosomal cystine and is caused by a defect in the…”
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    Journal Article