Impaired ribosome biogenesis in Diamond-Blackfan anemia
Choesmel, Valérie, Bacqueville, Daniel, Rouquette, Jacques, Noaillac-Depeyre, Jacqueline, Fribourg, Sébastien, Crétien, Aurore, Leblanc, Thierry, Tchernia, Gil, Da Costa, Lydie, Gleizes, Pierre-Emmanuel
Published in Blood (01.02.2007)
Published in Blood (01.02.2007)
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Journal Article
Study of the effects of proteasome inhibitors on ribosomal protein S19 (RPS19) mutants, identified in patients with Diamond-Blackfan anemia
Cretien, Aurore, Hurtaud, Corinne, Moniz, Helene, Proust, Alexis, Marie, Isabelle, Wagner-Ballon, Orianne, Choesmel, Valerie, Gleizes, Pierre-Emmanuel, Leblanc, Thierry, Delaunay, Jean, Tchernia, Gil, Mohandas, Narla, Da Costa, Lydie
Published in Haematologica (Roma) (01.11.2008)
Published in Haematologica (Roma) (01.11.2008)
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Genetic variants in the noncoding region of RPS19 gene in Diamond‐Blackfan anemia: Potential implications for phenotypic heterogeneity
Crétien, Aurore, Proust, Alexis, Delaunay, Jean, Rincé, Patricia, Leblanc, Thierry, Ducrocq, Rolande, Simansour, Maud, Marie, Isabelle, Tamary, Hannah, Meerpohl, Jörg, Niemeyer, Charlotte, Gazda, Hanna, Sieff, Colin, Ball, Sarah, Tchernia, Gil, Mohandas, Narla, Da Costa, Lydie
Published in American journal of hematology (01.02.2010)
Published in American journal of hematology (01.02.2010)
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Sub-lethal hydrops as a manifestation of dehydrated hereditary stomatocytosis in two consecutive pregnancies
Grootenboer-Mignot, Sabine, Crétien, Aurore, Laurendeau, Ingrid, Poissonnier, Marie-Hélène, Doireau, Valérie, Brossard, Yves, Tchernia, Gil, Cynober, Thérèse, Delaunay, Jean
Published in Prenatal diagnosis (01.05.2003)
Published in Prenatal diagnosis (01.05.2003)
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Congenital Dyserythropoietic Anemia Type I Is Caused by Mutations in Codanin-1
Dgany, Orly, Avidan, Nili, Delaunay, Jean, Krasnov, Tatyana, Shalmon, Lea, Shalev, Hanna, Eidelitz-Markus, Tal, Kapelushnik, Joseph, Cattan, Daniel, Pariente, Alexandre, Tulliez, Michel, Crétien, Aurore, Schischmanoff, Pierre-Olivier, Iolascon, Achille, Fibach, Eithan, Koren, Ariel, Rössler, Jochen, Le Merrer, Martine, Yaniv, Isaac, Zaizov, Rina, Ben-Asher, Edna, Olender, Tsvyia, Lancet, Doron, Beckmann, Jacques S., Tamary, Hannah
Published in American journal of human genetics (01.12.2002)
Published in American journal of human genetics (01.12.2002)
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Activation of p53 Pathway In Erythroid Precursor Cells of Diamond-Blackfan Anemia Leads to Two Distinct Phenotypes
Moniz, Hélène, Crétien, Aurore, Hurtaud, Corinne, Leblanc, Thierry, Marie, Isabelle, Tchernia, Gil, Vainchenker, William, Narla, Mohandas, Da Costa, Lydie M.
Published in Blood (19.11.2010)
Published in Blood (19.11.2010)
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L'anémie de diamond-blackfan, depuis la découverte du gène de la protéine ribosomique S19 (rps19)
DA COSTA, Lydie, CRETIEN, Aurore, MARIE, Isabelle, TCHERNIA, Gil, LEBLANC, Thierry
Published in Hématologie (01.12.2005)
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Published in Hématologie (01.12.2005)
Journal Article
Two Distinct Mechanisms Are Responsible for Regulation of Ribosomal Protein S19 Expression Level in Diamond-Blackfan Anemia by NF-κB Pathway
Hurtaud, Corinne, Cretien, Aurore, Clayette, Valerie, Pisani, Didier, Giraudier, Stephane, Leblanc, Thierry, Delaunay, Jean, Tchernia, Gil, Mohandas, Narla, Costa, Lydie Da
Published in Blood (16.11.2007)
Published in Blood (16.11.2007)
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Journal Article
Impaired ribosome biogenesis in Diamond-Blackfan anemia. Commentary
LIPTON, Jeffrey M, CHOESMEL, Valérie, GLEIZES, Pierre-Emmanuel, BACQUEVILLE, Daniel, ROUQUETTE, Jacques, NOAILLAC-DEPEYRE, Jacqueline, FRIBOURG, Sébastien, CRETIEN, Aurore, LEBLANC, Thierry, TCHERNIA, Gil, DA COSTA, Lydie
Published in Blood (2007)
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Published in Blood (2007)
Journal Article
Proteasome Inhibitors Restore to Normal the Decreased Levels of Protein Expression and Nucleolar Localization of Various Mutant Ribosomal S19 Proteins Identified in DBA Patients
Cretien, Aurore, Proust, Alexis, Gazda, Hanna, Meerpohl, Jorg, Niemeyer, Charlotte Marie, Delaunay, Jean, Tchernia, Gil, Narla, Mohandas, Da Costa, Lydie
Published in Blood (16.11.2005)
Published in Blood (16.11.2005)
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Journal Article
The First Homozygous RPS19 Mutation Identified in a Diamond-Blackfan Anemia Patient Is Not Deleterious
Cretien, Aurore, Rince, Patricia, Leblanc, Thierry, Ducrocq, Rolande, Proust, Alexis, Marie, Isabelle, Delaunay, Jean, Narla, Mohandas, Tchernia, Gil, Da Costa, Lydie
Published in Blood (16.11.2005)
Published in Blood (16.11.2005)
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Journal Article