Publications by authors named "Claude Prehu"

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A somatic mosaicism in the G6PD gene inducing a late onset chronic non-spherocytic hemolytic anemia.
Lucile Couronné, Gérard Tertian, Audrey Boutron, Véronique Picard, Hakim Ouled-Haddou

Am J Hematol· August 2017

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Two new class III G6PD variants [G6PD Tunis (c.920A>C: p.307Gln>Pro) and G6PD Nefza (c.968T>C: p.323 Leu>Pro)] and overview of the spectrum of mutations in Tunisia.
Ikbel Benmansour, Kamran Moradkhani, Imen Moumni, Henri Wajcman, Raouf Hafsia

Blood Cells Mol Dis· February 2013

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Molecular analysis of the rare in(Lu) blood type: toward decoding the phenotypic outcome of haploinsufficiency for the transcription factor KLF1.
Virginie Helias, Carole Saison, Thierry Peyrard, Eliane Vera, Claude Prehu

Hum Mutat· January 2013

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Comparison of two known chromosomal rearrangements in the δβ-globin complex with identical DNA breakpoints but causing different Hb A(2) levels.
Elisabeth Saller, Kamran Moradkhani, Fabrizio Dutly, Isabelle Vinatier, Claude Préhu

Hemoglobin· December 2012

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Practical approach for characterization of glucose 6-phosphate dehydrogenase (G6PD) deficiency in countries with population ethnically heterogeneous: description of seven new G6PD mutants.
Kamran Moradkhani, Chadia Mekki, Michel Bahuau, Valerie Li Thiao Te, Muriel Holder

Am J Hematol· February 2012

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Clinical follow-up of hydroxyurea-treated adults with sickle cell disease.
Ruben Nzouakou, Dora Bachir, Anne Lavaud, Anoosha Habibi, Ketty Lee

Acta Haematol· May 2011

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A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia.
Lionel Arnaud, Carole Saison, Virginie Helias, Nicole Lucien, Dominique Steschenko, Claude Prehu

Am J Hum Genet· November 2010

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Strategy for identification by mass spectrometry of a new human hemoglobin variant with two mutations in Cis in the beta-globin chain: Hb S-Clichy [beta6(A3)Glu-->Val; beta8(A5)Lys-->Thr].
Isabelle Zanella-Cleon, Claude Préhu, Philippe Joly, Jean Riou, Michel Becchi

Hemoglobin· February 2010

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A rare G6PD variant (c.383T>G; p.128Leu>Arg) with a molecular pathophysiological mechanism similar to that of G6PD A- (68Val>Met, 126Asn>Asp).
Kamran Moradkhani, Michel Bahuau, Claude Préhu, Natacha Martin, Catherine Bimet

Blood Cells Mol Dis· December 2009

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Chronic hemolytic anemia due to novel alpha-globin chain variants: critical location of the mutation within the gene sequence for a dominant effect.
Claude Préhu, Kamran Moradkhani, Jean Riou, Michel Bahuau, Pierre Launay

Haematologica· November 2009

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Hb Gerland [alpha 55(E4)Val-->Ala]: a mutation found on the alpha1-globin gene.
Kamran Moradkhani, Jean Riou, Alain Francina, Henri Wajcman, Claude Prehu

Hemoglobin· July 2009

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Mutations in the paralogous human alpha-globin genes yielding identical hemoglobin variants.
Kamran Moradkhani, Claude Préhu, John Old, Shirley Henderson, Vera Balamitsa

Ann Hematol· June 2009

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An alpha0-thalassemia-like mutation: Hb Suan-Dok [alpha109(G16)Leu-->Arg] carried by a recombinant -alpha(3.7) gene.
Kamran Moradkhani, Elodie Mazurier, Piero C Giordano, Henri Wajcman, Claude Préhu

Hemoglobin· September 2008

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A study of 36 unrelated cases with pure erythrocytosis revealed three new mutations in the erythropoietin receptor gene.
Maha Al-Sheikh, Elodie Mazurier, Betty Gardie, Nicole Casadevall, Frédéric Galactéros

Haematologica· July 2008

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Disturbance in the HIF-1alpha pathway associated with erythrocytosis: further evidences brought by frameshift and nonsense mutations in the prolyl hydroxylase domain protein 2 (PHD2) gene.
Maha Al-Sheikh, Kamran Moradkhani, Marc Lopez, Henri Wajcman, Claude Préhu

Blood Cells Mol Dis· May 2008

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Hb Niigata [beta1(NA1)Val-->Leu] in a Romanian individual resulting from another nucleotide substitution than that found in the Japanese.
Kamran Moradkhani, Joan Henthorn, Jean Riou, Lorraine Phelan, Claude Préhu

Hemoglobin· January 2008

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Hb Barika [alpha42(C7)Tyr-->His (alpha2)] leads to an alpha+ -Thalassemia-like syndrome.
Claude Préhu, Jean Riou, Henri Wajcman

Hemoglobin· May 2007

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Two French Caucasian families with dominant thalassemia-like phenotypes due to hyper unstable hemoglobin variants: Hb Sainte Seve [codon 118 (-T)] and codon 127 [CAG-->TAG (Gln-->stop]).
Claude Préhu, Serge Pissard, Maha Al-Sheikh, Catherine Le Niger, Dora Bachir

Hemoglobin· December 2005

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Hb Montfermeil [beta 130(H8) Tyr-->Cys]: suggests a key role for the interaction between helix A and H in oxygen affinity of the hemoglobin molecule.
Jean Kister, Véronique Baudin-Creuza, Laurent Kiger, Claude Préhu, Ioannis Papassotiriou

Blood Cells Mol Dis· September 2005

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Evaluation of the Bio-Rad VARIANT II HbA2/HbA1C Dual Program for measurement of hemoglobin concentrations and detection of variants.
Jean Riou, Christian Godart, Mireille Mathis, Didier Hurtrel, Henri Wajcman

Clin Chem Lab Med· August 2005

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Unexpected high frequency of P46L TNFRSF1A allele in sub-Saharan West African populations.
Dimitri Tchernitchko, Mihelaiti Chiminqgi, Frédéric Galactéros, Claude Préhu, Yvon Segbena

Eur J Hum Genet· April 2005

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Transfer of human alpha- to beta-hemoglobin via its chaperone protein: evidence for a new state.
Véronique Baudin-Creuza, Corinne Vasseur-Godbillon, Christine Pato, Claude Préhu, Henri Wajcman

J Biol Chem· August 2004

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Two new hemoglobin variants with increased oxygen affinity: Hb Nantes [beta34(B16)Val-->Leu] and Hb Vexin [beta116(G18)His-->Leu].
Henri Wajcman, Josiane Bardakdjian-Michau, Jean Riou, Claude Préhu, Jean Kister

Hemoglobin· August 2003

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An identical mutation carried by different genes: Hb Frankfurt [alpha50(CE8)His->Gln].
Claude Préhu, Alain Francina, Lütje Jürgen Behnken, Danielle Promé, Frédéric Galactéros

Haematologica· May 2003

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A new unstable alpha2-globin gene variant: Hb Chartres [alpha33(B14)Phe --> Ser].
Claude Préhu, Elodie Mazurier, Jean Riou, Jean Kister, Danielle Promé

Hemoglobin· May 2003

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