Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Aurore Crétien"'
Autor:
Aurore Crétien, Corinne Hurtaud, Hélène Moniz, Alexis Proust, Isabelle Marie, Orianne Wagner-Ballon, Valérie Choesmel, Pierre-Emmanuel Gleizes, Thierry Leblanc, Jean Delaunay, Gil Tchernia, Narla Mohandas, Lydie Da Costa
Publikováno v:
Haematologica, Vol 93, Iss 11 (2008)
Background Mutations in the ribosomal protein S19 gene (RPS19) have been found in 25% of patients with Diamond-Blackfan anemia, a rare syndrome of congenital bone marrow failure characterized by erythroblastopenia and various malformations. Mechanist
Externí odkaz:
https://doaj.org/article/0d490a285bd14b3ca396b7c208f6521b
Autor:
Hélène Moniz, Orianne Wagner-Ballon, Narla Mohandas, Alexis Proust, Lydie Da Costa, Jean Delaunay, Corinne Hurtaud, Valérie Choesmel, Thierry Leblanc, Isabelle Marie, Aurore Crétien, Gil Tchernia, Pierre-Emmanuel Gleizes
Publikováno v:
Haematologica. 93:1627-1634
Background Mutations in the ribosomal protein S19 gene ( RPS19 ) have been found in 25% of patients with Diamond-Blackfan anemia, a rare syndrome of congenital bone marrow failure characterized by erythroblastopenia and various malformations. Mechani
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::252fa941a5ae5387fc154a5d1db63300
https://doi.org/10.3324/haematol.13023
https://doi.org/10.3324/haematol.13023
Autor:
Marie-Hélène Poissonnier, Aurore Crétien, Ingrid Laurendeau, Sabine Grootenboer-Mignot, T. Cynober, Jean Delaunay, Valérie Doireau, Gil Tchernia, Yves Brossard
Publikováno v:
Prenatal Diagnosis. 23:380-384
Dehydrated hereditary stomatocytosis (DHS) is a rare congenital hemolytic anemia mapping to 16q23-q24. We showed recently that it is part of a pleiotropic syndrome likely to display pseudohyperkalemia and/or different forms of fetal and placental flu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2f455852a2c85effba07f41bbc8adb07
https://doi.org/10.1002/pd.598
https://doi.org/10.1002/pd.598
Autor:
Jean Delaunay, Alexandre Pariente, Tsvyia Olender, Doron Lancet, Lea Shalmon, Rina Zaizov, Aurore Crétien, Joseph Kapelushnik, Nili Avidan, Achille Iolascon, Ariel Koren, Hannah Tamary, Pierre-Olivier Schischmanoff, Tatyana Krasnov, Martine Le Merrer, Tal Eidelitz-Markus, Jochen Rössler, I Yaniv, Eithan Fibach, Daniel Cattan, Edna Ben-Asher, Jacques S. Beckmann, Hanna Shalev, Orly Dgany, Michel Tulliez
Publikováno v:
The American Journal of Human Genetics. 71:1467-1474
Congenital dyserythropoietic anemias (CDAs) constitute a rare group of inherited red-blood-cell disorders associated with dysplastic changes in late erythroid precursors. CDA type I (CDAI [MIM 224120], gene symbol CDAN1) is characterized by erythroid
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5cdc99b4bb489c1b305c90df2654731d
https://doi.org/10.1086/344781
https://doi.org/10.1086/344781
Autor:
Isabelle Marie, Thierry Leblanc, Jean Delaunay, Hannah Tamary, Rolande Ducrocq, Narla Mohandas, Sarah E. Ball, Maud Simansour, Jörg J. Meerpohl, Charlotte M. Niemeyer, Gil Tchernia, Colin A. Sieff, Hanna T. Gazda, Alexis Proust, Lydie Da Costa, Aurore Crétien, Patricia Rince
Publikováno v:
American Journal of Hematology.
Mutations in the RPS19 gene have been identified in 25% of individuals affected by Diamond-Blackfan anemia (DBA), a congenital erythroblastopenia characterized by an aregenerative anemia and a variety of malformations. More than 60 mutations in the f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9af32e96d32768c393126982c117567d
https://doi.org/10.1002/ajh.21601
https://doi.org/10.1002/ajh.21601
Autor:
Sabine, Grootenboer-Mignot, Aurore, Crétien, Ingrid, Laurendeau, Marie-Hélène, Poissonnier, Valérie, Doireau, Yves, Brossard, Gil, Tchernia, Thérèse, Cynober, Jean, Delaunay
Publikováno v:
Prenatal diagnosis. 23(5)
Dehydrated hereditary stomatocytosis (DHS) is a rare congenital hemolytic anemia mapping to 16q23-q24. We showed recently that it is part of a pleiotropic syndrome likely to display pseudohyperkalemia and/or different forms of fetal and placental flu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b2cc51148dd7d6bd124ed0d22fc6a2c0
https://pubmed.ncbi.nlm.nih.gov/12749034
https://pubmed.ncbi.nlm.nih.gov/12749034
Autor:
William Vainchenker, Aurore Crétien, Gil Tchernia, Hélène Moniz, Corinne Hurtaud, Thierry Leblanc, Isabelle Marie, Mohandas Narla, Lydie Da Costa
Publikováno v:
Blood. 116:2225-2225
Abstract 2225 Identification of mutations in a number of ribosomal genes has established DBA as a disease of aberrant biogenesis of ribosomes. We have previously documented that knockdown of RPS19, RPL5 and RPL11 mRNA by shRNAs in CD34+ cells from co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::94598c68bbc47979dc4c2365a575baf7
https://doi.org/10.1182/blood.v116.21.2225.2225
https://doi.org/10.1182/blood.v116.21.2225.2225