Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Hélène Moniz"'
Autor:
Marc Gastou, Sarah Rio, Michaël Dussiot, Narjesse Karboul, Hélène Moniz, Thierry Leblanc, Margaux Sevin, Patrick Gonin, Jérome Larghéro, Carmen Garrido, Anupama Narla, Narla Mohandas, William Vainchenker, Olivier Hermine, Eric Solary, Lydie Da Costa
Publikováno v:
Blood Advances, Vol 1, Iss 22, Pp 1959-1976 (2017)
Abstract: Diamond-Blackfan anemia (DBA) is a rare congenital bone marrow failure syndrome that exhibits an erythroid-specific phenotype. In at least 70% of cases, DBA is related to a haploinsufficient germ line mutation in a ribosomal protein (RP) ge
Externí odkaz:
https://doaj.org/article/29a79bc7c51841ca8afd6c4fd7f2d674
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:
Narla Mohandas, Hélène Moniz, Michael Dussiot, Carmen Garrido, Sarah Rio, Narjesse Karboul, Olivier Hermine, Marc Gastou, Jérôme Larghero, Lydie Da Costa, Margaux Sevin, Thierry Leblanc, Eric Solary, Patrick Gonin, William Vainchenker, Anupama Narla
Publikováno v:
Blood Advances
Blood Advances, The American Society of Hematology, 2017, 1 (22), pp.1959-1976. 〈http://www.bloodadvances.org/content/1/22/1959?sso-checked=true〉. 〈10.1182/bloodadvances.2017008078〉
Blood Advances, The American Society of Hematology, 2017, 1 (22), pp.1959-1976. ⟨10.1182/bloodadvances.2017008078⟩
Blood Advances, The American Society of Hematology, 2017, 1 (22), pp.1959-1976. 〈http://www.bloodadvances.org/content/1/22/1959?sso-checked=true〉. 〈10.1182/bloodadvances.2017008078〉
Blood Advances, The American Society of Hematology, 2017, 1 (22), pp.1959-1976. ⟨10.1182/bloodadvances.2017008078⟩
International audience; Diamond-Blackfan anemia (DBA) is a rare congenital bone marrow failure syndrome that exhibits an erythroid-specific phenotype. In at least 70% of cases, DBA is related to a haploinsufficient germ line mutation in a ribosomal p
Autor:
Lydie Da Costa, Isabelle Marie, Gil Tchernia, Thierry Leblanc, Hélène Moniz, Alexis Proust, Corinne Hurtaud
Publikováno v:
Hématologie. 15:020-034
L’anemie de Blackfan-Diamond (ABD) est une maladie rare associant une erythroblastopenie, un retard de croissance frequent et des malformations congenitales variees. En 1997, la decouverte, chez une petite fille suedoise atteinte d’ABD, d’une t
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
Autor:
Irma Dianzani, Rossella Crescitelli, Antonella Ronchi, Elisa Robotti, Stefano Gustincich, Lydie Da Costa, Elisa Pavesi, Emilio Marengo, Hélène Moniz, Paola Roncaglia, Anna Aspesi, Claudio Santoro, Narla Mohandas, Steven R. Ellis, Simone Merlin, Ugo Ramenghi, Ilenia Boria, Antonia Follenzi, Federica Avondo
Publikováno v:
Gene
Defects in genes encoding ribosomal proteins cause Diamond Blackfan Anemia (DBA), a red cell aplasia often associated with physical abnormalities. Other bone marrow failure syndromes have been attributed to defects in ribosomal components but the lin
Publikováno v:
Transfusion clinique et biologique : journal de la Societe francaise de transfusion sanguine. 17(3)
Diamond-Blackfan anemia is a rare inherited bone marrow failure syndrome (five to seven cases per million live births) characterized by an aregenerative, usually macrocytic anemia with an absence or less than 5% of erythroid precursors (erythroblasto
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
Autor:
Narla Mohandas, Hélène Moniz, Corinne Hurtaud, Thierry Leblanc, Gil Tchernia, Lydie Da Costa
Publikováno v:
Blood. 114:176-176
Abstract 176 Identification of mutations in a number of ribosomal genes including RPS19, RPL5 and RPL11 in Diamond-Blackfan anenia has established it as a disease of aberrant ribosome biogenesis. To date, it has not been possible to determine if a co
Autor:
Lucile Gust, Alexis Toullec, Charlotte Benoit, René Farcy, Stéphane Garcia, Veronique Secq, Jean-Yves Gaubert, Delphine Trousse, Bastien Orsini, Christophe Doddoli, Helene Moniz-Koum, Pascal Alexandre Thomas, Xavier Benoit D'journo
Publikováno v:
PLoS ONE, Vol 10, Iss 8, p e0134559 (2015)
Pre-therapeutic pathological diagnosis is a crucial step of the management of pulmonary nodules suspected of being non small cell lung cancer (NSCLC), especially in the frame of currently implemented lung cancer screening programs in high-risk patien
Externí odkaz:
https://doaj.org/article/1da507ecf9a546c2804ee6d909866b13