Search Results - "Wajcman, Henri"

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    Updates of the HbVar database of human hemoglobin variants and thalassemia mutations by Giardine, Belinda, Borg, Joseph, Viennas, Emmanouil, Pavlidis, Cristiana, Moradkhani, Kamran, Joly, Philippe, Bartsakoulia, Marina, Riemer, Cathy, Miller, Webb, Tzimas, Giannis, Wajcman, Henri, Hardison, Ross C, Patrinos, George P

    Published in Nucleic acids research (01-01-2014)
    “…HbVar (http://globin.bx.psu.edu/hbvar) is one of the oldest and most appreciated locus-specific databases launched in 2001 by a multi-center academic effort to…”
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    Journal Article
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    Ex vivo generation of fully mature human red blood cells from hematopoietic stem cells by Cynober, Thérèse, Wajcman, Henri, Chalmers, David, Lapillonne, Hélène, Giarratana, Marie-Catherine, Kobari, Ladan, Marden, Michael C, Kiger, Laurent, Douay, Luc

    Published in Nature biotechnology (01-01-2005)
    “…We describe here the large-scale ex vivo production of mature human red blood cells (RBCs) from hematopoietic stem cells of diverse origins. By mimicking the…”
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    Journal Article
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    HbVar database of human hemoglobin variants and thalassemia mutations: 2007 update by Giardine, Belinda, van Baal, Sjozef, Kaimakis, Polynikis, Riemer, Cathy, Miller, Webb, Samara, Maria, Kollia, Panagoula, Anagnou, Nicholas P., Chui, David H.K., Wajcman, Henri, Hardison, Ross C., Patrinos, George P.

    Published in Human mutation (01-02-2007)
    “…HbVar (http://globin.bx.psu.edu/hbvar) is a locus‐specific database (LSDB) developed in 2001 by a multi‐center academic effort to provide timely information on…”
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    Journal Article
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    Role of α-globin H helix in the building of tetrameric human hemoglobin: interaction with α-hemoglobin stabilizing protein (AHSP) and heme molecule by Domingues-Hamdi, Elisa, Vasseur, Corinne, Fournier, Jean-Baptiste, Marden, Michael C, Wajcman, Henri, Baudin-Creuza, Véronique

    Published in PloS one (04-11-2014)
    “…Alpha-Hemoglobin Stabilizing Protein (AHSP) binds to α-hemoglobin (α-Hb) or α-globin and maintains it in a soluble state until its association with the β-Hb…”
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    Journal Article
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    Structure and function evolution in the superfamily of globins by Wajcman, Henri, Kiger, Laurent, Marden, Michael C

    Published in Comptes rendus. Biologies (01-02-2009)
    “…The superfamily of globins has emerged some 4000 Myr from a common ancestor, which was among the basic protein components required for life. Globins are…”
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    Journal Article
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    HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server by Hardison, Ross C., Chui, David H.K., Giardine, Belinda, Riemer, Cathy, Patrinos, George P., Anagnou, Nicholas, Miller, Webb, Wajcman, Henri

    Published in Human mutation (01-03-2002)
    “…We have constructed a relational database of hemoglobin variants and thalassemia mutations, called HbVar, which can be accessed on the web at…”
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    Journal Article
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    A study of 36 unrelated cases with pure erythrocytosis revealed three new mutations in the erythropoietin receptor gene by Al-Sheikh, Maha, Mazurier, Elodie, Gardie, Betty, Casadevall, Nicole, Galacteros, Frederic, Goossens, Michel, Wajcman, Henri, Prehu, Claude, Ugo, Valerie

    Published in Haematologica (Roma) (01-07-2008)
    “…1 INSERM, U841, Créteil 2 Service de Biochimie et Génétique, AP-HP, Groupe Henri Mondor, Albert Chenevier, Créteil 3 Unité de Génétique du Globules Rouges,…”
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    Journal Article
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    Unstable Alpha Hemoglobin Stabilizing Protein as a Cause of Thalassemia: Proof of Concept by Pissard, Serge, Vasseur, Corinne, Toutain, Fabienne, Silva, Muriel, Faubert-Laugé, Emmanuelle, Domingues, Elisa, Marden, Michael, Wajcman, Henri, Baudin-Creuza, Véronique

    Published in Blood (20-11-2009)
    “…Abstract 462 Alpha hemoglobin stabilizing protein (AHSP), a small 102-residue protein previously known as erythroid differentiation-related factor (EDRF), is…”
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    Journal Article
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    Pyruvate Kinase (PK) Deficiency in Newborns: The Pitfalls of Diagnosis by Pissard, Serge, MD, PhD, de Montalembert, Mariane, MD, Bachir, Dora, MD, Max-Audit, Isabelle, MD, PhD, Goossens, Michel, MD, Wajcman, Henri, MD, PhD, Bader-Meunier, Brigitte, MD

    Published in The Journal of pediatrics (01-04-2007)
    “…Pyruvate kinase (PK) deficiency is asymptomatic in heterozygotes, but it can lead in homozygous neonates to a severe neonatal hemolysis, sometimes…”
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    Journal Article
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    Cation-exchange HPLC evaluated for presumptive identification of hemoglobin variants by Riou, Jean, Godart, Christian, Hurtrel, Didier, Mathis, Mireille, Bimet, Catherine, Bardakdjian-Michau, Josiane, Prehu, Claude, Wajcman, Henri, Galacteros, Frederic

    Published in Clinical chemistry (Baltimore, Md.) (01-01-1997)
    “…A battery of relatively simple tests allows the presumptive identification of hemoglobin (Hb) variants, making unnecessary structural analysis by protein…”
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    Journal Article Conference Proceeding
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    Quaternary Structure Sensitive Tyrosine Residues in Human Hemoglobin:  UV Resonance Raman Studies of Mutants at α140, β35, and β145 Tyrosine by Nagai, Masako, Wajcman, Henri, Lahary, Agnes, Nakatsukasa, Takashi, Nagatomo, Shigenori, Kitagawa, Teizo

    Published in Biochemistry (Easton) (26-01-1999)
    “…Recent studies noted the contribution of α42Tyr to the T−R-dependent UV resonance Raman (UVRR) spectral changes of HbA [Nagai, M., et al. (1996) J. Mol…”
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    Journal Article
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    Clinically relevant updates of the HbVar database of human hemoglobin variants and thalassemia mutations by Giardine, Belinda M, Joly, Philippe, Pissard, Serge, Wajcman, Henri, K. Chui, David H, Hardison, Ross C, Patrinos, George P

    Published in Nucleic acids research (08-01-2021)
    “…Abstract HbVar (http://globin.bx.psu.edu/hbvar) is a widely-used locus-specific database (LSDB) launched 20 years ago by a multi-center academic effort to…”
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    Journal Article
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    Pitfalls in the biological diagnosis of common hemoglobin disorders by Wajcman, Henri, Moradkhani, Kamran

    Published in Annales de biologie clinique (Paris) (01-09-2015)
    “…In West-European countries, hemoglobin disorders are no more rare diseases. Programs for diagnosis of heterozygous carriers have been established to prevent…”
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    Journal Article
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    Precision of CAPILLARYS 2 for the Detection of Hemoglobin Variants Based on Their Migration Positions by Riou, Jean, Szuberski, Jessica, Godart, Christian, Wajcman, Henri, Oliveira, Jennifer L, Hoyer, James D, Bardakdjian-Michau, Josiane

    Published in American journal of clinical pathology (29-01-2018)
    “…Abstract Objectives In this report, we evaluated utility of the capillary electrophoresis (CE) migration position of the CAPILLARYS 2 CE instrument. Methods…”
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    Journal Article
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    Globin chain analysis: An important tool in phenotype study of hemoglobin disorders by Wajcman, Henri, Riou, Jean

    Published in Clinical biochemistry (01-12-2009)
    “…Phenotype studies still occupy a key position in the diagnosis of hemoglobin (Hb) disorders. An additional dimension to the methods for diagnosis of Hb…”
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    Journal Article
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