Search Results - "David, Véronique"

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    Recent advances in understanding inheritance of holoprosencephaly by Dubourg, Christèle, Kim, Artem, Watrin, Erwan, de Tayrac, Marie, Odent, Sylvie, David, Véronique, Dupé, Valérie

    “…Holoprosencephaly (HPE) is a complex genetic disorder of the developing forebrain characterized by high phenotypic and genetic heterogeneity. HPE was initially…”
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    GREB1L variants in familial and sporadic hereditary urogenital adysplasia and Mayer‐Rokitansky‐Kuster‐Hauser syndrome by Jacquinet, Adeline, Boujemla, Bouchra, Fasquelle, Corinne, Thiry, Jerôme, Josse, Claire, Lumaka, Aimé, Brischoux‐Boucher, Elise, Dubourg, Christèle, David, Véronique, Pasquier, Laurent, Lehman, Anna, Morcel, Karine, Guerrier, Daniel, Bours, Vincent

    Published in Clinical genetics (01-08-2020)
    “…Congenital uterine anomalies (CUA) may have major impacts on the health and social well‐being of affected individuals. Their expressivity is variable, with the…”
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    Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients by Thomas, Hortense, Alix, Tom, Renard, Émeline, Renaud, Mathilde, Wourms, Justine, Zuily, Stéphane, Leheup, Bruno, Geneviève, David, Dreumont, Natacha, Schmitt, Emmanuelle, Bronner, Myriam, Muller, Marc, Divoux, Marion, Wandzel, Marion, Ravel, Jean-Marie, Dexheimer, Mylène, Becker, Aurélie, Roth, Virginie, Willems, Marjolaine, Coubes, Christine, Vieville, Gaëlle, Devillard, Françoise, Schaefer, Élise, Baer, Sarah, Piton, Amélie, Gérard, Bénédicte, Vincent, Marie, Nizon, Mathilde, Cogné, Benjamin, Ruaud, Lyse, Couque, Nathalie, Putoux, Audrey, Edery, Patrick, Lesca, Gaëtan, Chatron, Nicolas, Till, Marianne, Faivre, Laurence, Tran-Mau-Them, Frédéric, Alessandri, Jean-Luc, Lebrun, Marine, Quélin, Chloé, Odent, Sylvie, Dubourg, Christèle, David, Véronique, Faoucher, Marie, Mignot, Cyril, Keren, Boris, Pisan, Élise, Afenjar, Alexandra, Julia, Sophie, Bieth, Éric, Banneau, Guillaume, Goldenberg, Alice, Husson, Thomas, Campion, Dominique, Lecoquierre, François, Nicolas, Gaël, Charbonnier, Camille, De Saint Martin, Anne, Naudion, Sophie, Degoutin, Manon, Rondeau, Sophie, Michot, Caroline, Cormier-Daire, Valérie, Oussalah, Abderrahim, Pourié, Carine, Lambert, Laëtitia, Bonnet, Céline

    Published in Journal of medical genetics (29-08-2024)
    “…Tatton-Brown-Rahman syndrome (TBRS; OMIM 615879), also known as DNA methyltransferase 3 alpha ( )-overgrowth syndrome (DOS), was first described by…”
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    Homozygous STIL mutation causes holoprosencephaly and microcephaly in two siblings by Mouden, Charlotte, de Tayrac, Marie, Dubourg, Christèle, Rose, Sophie, Carré, Wilfrid, Hamdi-Rozé, Houda, Babron, Marie-Claude, Akloul, Linda, Héron-Longe, Bénédicte, Odent, Sylvie, Dupé, Valérie, Giet, Régis, David, Véronique

    Published in PloS one (06-02-2015)
    “…Holoprosencephaly (HPE) is a frequent congenital malformation of the brain characterized by impaired forebrain cleavage and midline facial anomalies…”
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    NODAL and SHH dose-dependent double inhibition promotes an HPE-like phenotype in chick embryos by Mercier, Sandra, David, Véronique, Ratié, Leslie, Gicquel, Isabelle, Odent, Sylvie, Dupé, Valérie

    Published in Disease models & mechanisms (01-03-2013)
    “…Holoprosencephaly (HPE) is a common congenital defect that results from failed or incomplete forebrain cleavage. HPE is characterized by a wide clinical…”
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    Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations by Dubourg, Christèle, Lazaro, Leïla, Pasquier, Laurent, Bendavid, Claude, Blayau, Martine, Duff, Franck Le, Durou, Marie-Renée, Odent, Sylvie, David, Véronique

    Published in Human mutation (01-07-2004)
    “…Holoprosencephaly (HPE; 1 out of 16,000 live births; 1 out of 250 conceptuses) is a complex brain malformation resulting from incomplete cleavage of the…”
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    Insulin resistance–associated hepatic iron overload by Mendler, Michel-Henry, Turlin, Bruno, Moirand, Romain, Jouanolle, Anne-Marie, Sapey, Thierry, Guyader, Dominique, le Gall, Jean-Yves, Brissot, Pierre, David, Véronique, Deugnier, Yves

    Published in Gastroenterology (New York, N.Y. 1943) (01-11-1999)
    “…Background & Aims: Hepatic iron overload has been reported in various metabolic conditions, including the insulin-resistance syndrome (IRS) and nonalcoholic…”
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    La verrière « Aux Morts de la Guerre » de Maurice Denis (1920-1925), de Paris à Montréal by Stahl, Fabienne, David, Véronique

    Published in In situ (Paris) (05-12-2014)
    “…After the First World War, monuments designed to commemorate its victims were prevalent in a wide variety of artistic fields, both civil and religious. At the…”
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    Castro et le défi du vitrail by David, Véronique

    Published in In situ (Paris) (03-11-2009)
    “…This article is based on the study of a commission for stained glass by the Museum of Saint-Lô (Manche), awarded to Sergio de Castro in 2008. The article takes…”
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    Phenotypic expression in detected C282Y homozygous women depends on body mass index by Lainé, Fabrice, Jouannolle, Anne-Marie, Morcet, Jeff, Brigand, Alain, Pouchard, Michel, Lafraise, Bernard, Mosser, Jean, David, Véronique, Deugnier, Yves

    Published in Journal of hepatology (01-12-2005)
    “…In HFE-related haemochromatosis, a large proportion of C282Y homozygotes, especially women, are not detected by phenotypic screening using transferrin…”
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    Holoprosencephaly by Dubourg, Christèle, Bendavid, Claude, Pasquier, Laurent, Henry, Catherine, Odent, Sylvie, David, Véronique

    Published in Orphanet journal of rare diseases (02-02-2007)
    “…Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and the 28th day…”
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    Mechanism of Intrinsic Resistance to Vancomycin in Clostridium innocuum NCIB 10674 by DAVID, Véronique, BOZDOGAN, Bülent, MAINARDI, Jean-Luc, LEGRAND, Raymond, GUTMANN, Laurent, LECLERCQ, Roland

    Published in Journal of Bacteriology (01-06-2004)
    “…Article Usage Stats Services JB Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley…”
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    Marguerite Huré, précurseur de l’abstraction dans le vitrail religieux by David, Véronique

    Published in In situ (Paris) (23-04-2012)
    “…Figure 1 Marguerite Huré Phot. Inv. P. Fortin © Inventaire général, ADAGP, 1998 Figure 2 Epinay–sur–Seine, église Notre–Dame des Missions. Vue de la façade…”
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