Sökresultat - Thierry Frébourg

Förfina resultatet
  1. 1
    The Challenge for the Next Generation of Medical Geneticists

    The Challenge for the Next Generation of Medical Geneticists av Thierry Frébourg

    Publicerad 2014
    Hämta fulltext Hämta fulltext
    Revisão
    Lägg till i favoriter
    Sparad:
  2. 2
    Cancer risks from germline p53 mutations.

    Cancer risks from germline p53 mutations. av Thierry Frébourg, Stephen Friend

    Publicerad 1992
    Hämta fulltext Hämta fulltext
    Revisão
    Lägg till i favoriter
    Sparad:
  3. 3
    Guidelines for the Li–Fraumeni and heritable TP53-related cancer syndromes

    Guidelines for the Li–Fraumeni and heritable TP53-related cancer syndromes av Thierry Frébourg, Svetlana Lagercrantz, Carla Oliveíra, Rita Mágenheim, D. Gareth Evans

    Publicerad 2020
    Hämta fulltext Hämta fulltext
    Artigo
    Lägg till i favoriter
    Sparad:
  4. 4
    Molecular determinants of anti-EGFR sensitivity and resistance in metastatic colorectal cancer

    Molecular determinants of anti-EGFR sensitivity and resistance in metastatic colorectal cancer av Frédéric Di Fiore, Richard Sesboüé, Pierre Michel, Jean‐Christophe Sabourin, Thierry Frébourg

    Publicerad 2010
    Hämta fulltext Hämta fulltext
    Revisão
    Lägg till i favoriter
    Sparad:
  5. 5
    Early onset hereditary hemochromatosis resulting from a novel <i>TFR2</i> gene nonsense mutation (R105X) in two siblings of north French descent

    Early onset hereditary hemochromatosis resulting from a novel <i>TFR2</i> gene nonsense mutation (R105X) in two siblings of north French descent av Gérald Le Gac, F. Mons, Sandrine Jacolot, Virginie Scotet, Claude Férec, Thierry Frébourg

    Publicerad 2004
    Hämta fulltext Hämta fulltext
    Artigo
    Lägg till i favoriter
    Sparad:
  6. 6
    Genetic Association Studies of Suicidal Behavior: A Review of the Past 10 Years, Progress, Limitations, and Future Directions

    Genetic Association Studies of Suicidal Behavior: A Review of the Past 10 Years, Progress, Limitations, and Future Directions av Bojan Mirkovic, Claudine Laurent, Marc-Antoine Podlipski, Thierry Frébourg, Doron Cohen, Priscille Gérardin

    Publicerad 2016
    Hämta fulltext Hämta fulltext
    Revisão
    Lägg till i favoriter
    Sparad:
  7. 7
    Serum hyaluronate in liver diseases: Study by enzymoimmunological assay

    Serum hyaluronate in liver diseases: Study by enzymoimmunological assay av Thierry Frébourg, Bertrand Delpech, E Bercoff, J Sénant, Philìppe Bertrand, Yves Deugnier, J Bourreille

    Publicerad 1986
    Hämta fulltext Hämta fulltext
    Artigo
    Lägg till i favoriter
    Sparad:
  8. 8
    TP63 gene mutation in ADULT syndrome

    TP63 gene mutation in ADULT syndrome av Jeanne Amiel, Gaëlle Bougeard, Christine Francannet, Valérie Raclin, Arnold Münnich, Stanislas Lyonnet, Thierry Frébourg

    Publicerad 2001
    Hämta fulltext Hämta fulltext
    Artigo
    Lägg till i favoriter
    Sparad:
  9. 9
    Cytoskeleton proteins are modulators of mutant tau-induced neurodegeneration in Drosophila

    Cytoskeleton proteins are modulators of mutant tau-induced neurodegeneration in Drosophila av Olivier Blard, Sébastien Feuillette, Jacqueline Bou, Boris Chaumette, Thierry Frébourg, Dominique Campion, Magalie Lecourtois

    Publicerad 2007
    Hämta fulltext Hämta fulltext
    Artigo
    Lägg till i favoriter
    Sparad:
  10. 10
    APP locus duplication in a Finnish family with dementia and intracerebral haemorrhage

    APP locus duplication in a Finnish family with dementia and intracerebral haemorrhage av Anne Rovelet‐Lecrux, Thierry Frébourg, Hannu Tuominen, Kari Majamaa, Dominique Campion, Anne M. Remes

    Publicerad 2007
    Hämta fulltext
    Artigo
    Lägg till i favoriter
    Sparad:
  11. 11
    Early-Onset Brain Tumor and Lymphoma in MSH2-Deficient Children

    Early-Onset Brain Tumor and Lymphoma in MSH2-Deficient Children av Gaëlle Bougeard, Françoise Charbonnier, Alexandre Moerman, Cosette Martin, Marie Madeleine Ruchoux, Nathalie Drouot, Thierry Frébourg

    Publicerad 2003
    Hämta fulltext Hämta fulltext
    Carta
    Lägg till i favoriter
    Sparad:
  12. 12
    Functional Analysis of a Large set of <i>BRCA2</i> exon 7 Variants Highlights the Predictive Value of Hexamer Scores in Detecting Alterations of Exonic Splicing Regulatory Elements

    Functional Analysis of a Large set of <i>BRCA2</i> exon 7 Variants Highlights the Predictive Value of Hexamer Scores in Detecting Alterations of Exonic Splicing Regulatory Elements av Daniela Di Giacomo, Pascaline Gaildrat, Anna Abulí, Julie Abdat, Thierry Frébourg, Mario Tosi, Alexandra Martins

    Publicerad 2013
    Hämta fulltext
    Artigo
    Lägg till i favoriter
    Sparad:
  13. 13
    Germline TP53 mutations result into a constitutive defect of p53 DNA binding and transcriptional response to DNA damage

    Germline TP53 mutations result into a constitutive defect of p53 DNA binding and transcriptional response to DNA damage av Yasmine Zerdoumi, Raphaël Lanos, Sabine Raad, Jean‐Michel Flaman, Gaëlle Bougeard, Thierry Frébourg, Isabelle Tournier

    Publicerad 2017
    Hämta fulltext Hämta fulltext
    Artigo
    Lägg till i favoriter
    Sparad:
  14. 14
    Rapid detection of novelBRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments

    Rapid detection of novelBRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments av Federica Casilli, Zorika Christiana Di Rocco, Sophie Gad, Isabelle Tournier, Dominique Stoppa‐Lyonnet, Thierry Frébourg, Mario Tosi

    Publicerad 2002
    Hämta fulltext
    Artigo
    Lägg till i favoriter
    Sparad:
  15. 15
    Unusual phenotypic alteration of β amyloid precursor protein (βAPP) maturation by a new Val-715 → Met βAPP-770 mutation responsible for probable early-onset Alzheimer’s disease

    Unusual phenotypic alteration of β amyloid precursor protein (βAPP) maturation by a new Val-715 → Met βAPP-770 mutation responsible for probable early-onset Alzheimer’s disease... av Karine Ancolio, Cécile Dumanchin, Hélène Barelli, Jean‐Marie Warter, Alexis Brice, Dominique Campion, Thierry Frébourg, Frédéric Checler

    Publicerad 1999
    Hämta fulltext Hämta fulltext
    Artigo
    Lägg till i favoriter
    Sparad:
  16. 16
    A rapid PCR fidelity assay

    A rapid PCR fidelity assay av Jean‐Michel Flaman, Thierry Frébourg, Viviane Moreau, Françoise Charbonnier, Cosette Martin, Chikashi Ishioka, Stephen Friend, Richard Iggo

    Publicerad 1994
    Hämta fulltext
    Artigo
    Lägg till i favoriter
    Sparad:
  17. 17
    Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools

    Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools av Omar Soukarieh, Pascaline Gaildrat, Mohamad Hamieh, Aurélie Drouet, Stéphanie Baert‐Desurmont, Thierry Frébourg, Mario Tosi, Alexandra Martins

    Publicerad 2016
    Hämta fulltext Hämta fulltext
    Artigo
    Lägg till i favoriter
    Sparad:
  18. 18
    Large‐scale comparative evaluation of user‐friendly tools for predicting variant‐induced alterations of splicing regulatory elements

    Large‐scale comparative evaluation of user‐friendly tools for predicting variant‐induced alterations of splicing regulatory elements av Hélène Tubeuf, Camille Charbonnier, Omar Soukarieh, André Blavier, Arnaud Lefebvre, Hélène Dauchel, Thierry Frébourg, Pascaline Gaildrat, Alexandra Martins

    Publicerad 2020
    Hämta fulltext
    Artigo
    Lägg till i favoriter
    Sparad:
  19. 19
    The evaluation of CA 19-9 antigen level in the early detection of pancreatic cancer: A prospective study of 866 patients

    The evaluation of CA 19-9 antigen level in the early detection of pancreatic cancer: A prospective study of 866 patients av Thierry Frébourg, E Bercoff, Nicolas Manchon, J Sénant, Jean-Pierre Basuyau, Pascal Breton, A. Janvresse, P Brunelle, J Bourreille

    Publicerad 1988
    Hämta fulltext Hämta fulltext
    Artigo
    Lägg till i favoriter
    Sparad:
  20. 20
    Metastatic colorectal cancer KRAS genotyping in routine practice: results and pitfalls

    Metastatic colorectal cancer KRAS genotyping in routine practice: results and pitfalls av Aude Lamy, France Blanchard, Florence Le Pessot, Richard Sesboüé, Frédéric Di Fiore, Jessie Bossut, Elodie Fiant, Thierry Frébourg, Jean‐Christophe Sabourin

    Publicerad 2011
    Hämta fulltext Hämta fulltext
    Artigo
    Lägg till i favoriter
    Sparad:

Sökverktyg: