Propositions pour le plan national maladies rares : rapport présenté au Ministère de la santé et des sports et au Ministère de l'enseignement supérieur et de la rechercheTCHERNIA, Gil.2010, 91 p.Book

L'érythrovirus B19 en hématologie = Hematological consequences of EB19 infectionCOHEN, Patrick; GUILLET, Benoit; TCHERNIA, Gil et al.Hématologie (Montrouge). 2003, Vol 9, Num 5, pp 389-401, issn 1264-7527, 13 p.Article

L'anémie de diamond-blackfan, depuis la découverte du gène de la protéine ribosomique S19 (rps19) = Diamond-Blackfan anemia since the ribosomal protein S19 (rps19) geneDA COSTA, Lydie; CRETIEN, Aurore; MARIE, Isabelle et al.Hématologie (Montrouge). 2005, Vol 11, Num 6, pp 385-396, issn 1264-7527, 12 p.Article

Two new human DMT1 gene mutations in a patient with microcytic anemia, low ferritinemia, and liver iron overloadBEAUMONT, Carole; DELAUNAY, Jean; HETET, Gilles et al.Blood. 2006, Vol 107, Num 10, pp 4168-4170, issn 0006-4971, 3 p.Article

Temporal differences in membrane loss lead to distinct reticulocyte features in hereditary spherocytosis and in immune hemolytic anemiaDA COSTA, Lydie; MOHANDAS, Narla; SORETTE, Martin et al.Blood. 2001, Vol 98, Num 10, pp 2894-2899, issn 0006-4971Article

Elliptocytose chez un sujet de race noire : un piège diagnostique ou « ne vous fiez pas aux apparences » = Elliptocytosis in a block patient. A diagnostic trop : Do not conclude hastilyBEAUCHAMP-NICOUD, Anne; CYNOBER, Thérèse; BLOT, Isa et al.Hématologie (Montrouge). 2001, Vol 7, Num 4, pp 297-299, issn 1264-7527Article

Anémie de Diamond-Blackfan : Le côté obscur de la biogenèse des ribosomes = Diamond-Blackfan anemia reveals the dark side of ribosome biogenesisAGUISSA-TOURE, Almass-Houd; DA COSTA, Lydie; LEBLANC, Thierry et al.MS. Médecine sciences. 2009, Vol 25, Num 1, pp 69-76, issn 0767-0974, 8 p.Article

High-risk pregnancies in Diamond-Blackfan anemia : a survey of 64 pregnancies from the French and German registriesFAIVRE, Laurence; MEERPOHL, Jörg; RISPAL, Patrick et al.Haematologica (Roma). 2006, Vol 91, Num 4, pp 530-533, issn 0390-6078, 4 p.Article

Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemiaGAZDA, Hanna T; GRABOWSKA, Agnieszka; NIEWIADOMSKA, Edyta et al.American journal of human genetics. 2006, Vol 79, Num 6, pp 1110-1118, issn 0002-9297, 9 p.Article

Association between myeloid malignancies and acquired deficit in protein 4.1R : A retrospective analysis of six patientsALANIO-BRECHOT, Cécile; SCHISCHMANOFF, Pierre-Olivier; FENEANT-THIBAULT, Madeleine et al.American journal of hematology. 2008, Vol 83, Num 4, pp 275-278, issn 0361-8609, 4 p.Article

Macrothrombocytopenia with abnormal demarcation membranes in megakaryocytes and neutropenia with a complete lack of sialyl-Lewis-X antigen in leukocytes : a new syndrome?WILLIG, Thiebaut-Noel; BRETON-GORIUS, Jeanine; GOUGEROT-POCIDALO, Marie-Anne et al.Blood. 2001, Vol 97, Num 3, pp 826-828, issn 0006-4971Article

A Dominant Mutation in the Gene Encoding the Erythroid Transcription Factor KLF1 Causes a Congenital Dyserythropoietic AnemiaARNAUD, Lionel; SAISON, Carole; FRANCINA, Alain et al.American journal of human genetics. 2010, Vol 87, Num 5, pp 721-727, issn 0002-9297, 7 p.Article

Genetic complementation reveals a novel human congenital disorder of glycosylation of type II, due to inactivation of the Golgi CMP-sialic acid transporterMARTINEZ-DUNCKER, Ivan; VERONIQUE PILLER, Thierry Dupré; PILLER, Friedrich et al.Blood. 2005, Vol 105, Num 7, pp 2671-2676, issn 0006-4971, 6 p.Article

Abnormal glycosylation of red cell membrane band 3 in the congenital disorder of glycosylation IgZDEBSKA, Ewa; BADER-MEUNIER, Brigitte; SCHISCHMANOFF, Pierre-Olivier et al.Pediatric research. 2003, Vol 54, Num 2, pp 224-229, issn 0031-3998, 6 p.Article

Nucleolar localization of RPS19 protein in normal cells and mislocalization due to mutations in the nucleolar localization signals in 2 Diamond-Blackfan anemia patients: potential insights into pathophysiologyDA COSTA, Lydie; TCHERNIA, Gil; GASCARD, Philippe et al.Blood. 2003, Vol 101, Num 12, pp 5039-5045, issn 0006-4971, 7 p.Article

Long-term evaluation of the beneficial effect of subtotal splenectomy for management of hereditary spherocytosisBADER-MEUNIER, Brigitte; GAUTHIER, Frédéric; ARCHAMBAUD, Frédérique et al.Blood. 2001, Vol 97, Num 2, pp 399-403, issn 0006-4971Article

Genetic variants in the noncoding region of RPS19 gene in Diamond-Blackfan anemia: Potential implications for phenotypic heterogeneityCRETIEN, Aurore; PROUST, Alexis; NIEMEYER, Charlotte et al.American journal of hematology. 2010, Vol 85, Num 2, pp 111-116, issn 0361-8609, 6 p.Article

Band 3 Courcouronnes (Ser667Phe) : a trafficking mutant differentially rescued by wild-type band 3 and glycophorin ATOYE, Ashley M; WILLIAMSON, Rosalind C; KHANFAR, Moudji et al.Blood. 2008, Vol 111, Num 11, pp 5380-5389, issn 0006-4971, 10 p.Article

Study of the effects of proteasome inhibitors on ribosomal protein S19 (RPS19) mutants, identified in patients with Diamond-Blackfan anemiaCRETIEN, Aurore; HURTAUD, Corinne; TCHERNIA, Gil et al.Haematologica (Roma). 2008, Vol 93, Num 11, pp 1627-1634, issn 0390-6078, 8 p.Article

Impaired ribosome biogenesis in Diamond-Blackfan anemia. CommentaryLIPTON, Jeffrey M; CHOESMEL, Valérie; GLEIZES, Pierre-Emmanuel et al.Blood. 2007, Vol 109, Num 3, issn 0006-4971, 850-851,1275-1283 [11 p.]Article

Parvovirus B19-induced anemia in renal transplantation : a role for rHuEPO in resistance to classical treatmentARZOUK, Nadia; SNANOUDJ, Renaud; BEAUCHAMP-NICOUD, Anne et al.Transplant international. 2006, Vol 19, Num 2, pp 166-169, issn 0934-0874, 4 p.Article

Human blood IgM memory B cells are circulating splenic marginal zone B cells harboring a prediversified immunoglobulin repertoireWELLER, Sandra; BRAUN, Moritz C; TCHERNIA, Gil et al.Blood. 2004, Vol 104, Num 12, pp 3647-3654, issn 0006-4971, 8 p.Article

Congenital dyserythropoietic anemia, type 1, in a Polynesian patient: Response to interferon α2bRODA, Laurent; PASCHE, Jérome; FOURNIER, Alain et al.Journal of pediatric hematology/oncology. 2002, Vol 24, Num 6, pp 503-506, issn 1077-4114Article

A splicing alteration of 4.1R pre-mRNA generates 2 protein isoforms with distinct assembly to spindle poles in mitotic cellsDELHOMMEAU, Francois; VASSEUR-GODBILLON, Corinne; RIBEIRO, Leticia et al.Blood. 2002, Vol 100, Num 7, pp 2629-2636, issn 0006-4971, 8 p.Article

Pleiotropic syndrome of dehydrated hereditary stomatocytosis, pseudohyperkalemia, and perinatal edema maps to 16q23-q24GROOTENBOER, Sabine; SCHISCHMANOFF, Pierre-Olivier; BALLAS, Samir K et al.Blood. 2000, Vol 96, Num 7, pp 2599-2605, issn 0006-4971Article