A Molecular‐Based Estimation of the Prevalence of Hypophosphatasia in the European Population von Mornet, Etienne, Yvard, Alice, Taillandier, Agnes, Fauvert, Delphine, Simon‐Bouy, Brigitte

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Hypophosphatasia: a genetic-based nosology and new insights in genotype-phenotype correlation von Mornet, Etienne, Taillandier, Agnes, Domingues, Christelle, Dufour, Annika, Benaloun, Emmanuelle, Lavaud, Nicole, Wallon, Fabienne, Rousseau, Nathalie, Charle, Carole, Guberto, Mihelaiti, Muti, Christine, Simon-Bouy, Brigitte

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Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles von Fauvert, Delphine, Brun-Heath, Isabelle, Lia-Baldini, Anne-Sophie, Bellazi, Linda, Taillandier, Agnès, Serre, Jean-Louis, de Mazancourt, Philippe, Mornet, Etienne

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Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing von Taillandier, Agnès, Domingues, Christelle, De Cazanove, Clémence, Porquet-Bordes, Valérie, Monnot, Sophie, Kiffer-Moreira, Tina, Rothenbuhler, Agnès, Guggenbuhl, Pascal, Cormier, Catherine, Baujat, Geneviève, Debiais, Françoise, Capri, Yline, Cohen-Solal, Martine, Parent, Philippe, Chiesa, Jean, Dieux, Anne, Petit, Florence, Roume, Joelle, Isnard, Monica, Cormier-Daire, Valérie, Linglart, Agnès, Millán, José Luis, Salles, Jean-Pierre, Muti, Christine, Simon-Bouy, Brigitte, Mornet, Etienne

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Genetic analysis of adults heterozygous for ALPL mutations von Taillandier, Agnès, Domingues, Christelle, Dufour, Annika, Debiais, Françoise, Guggenbuhl, Pascal, Roux, Christian, Cormier, Catherine, Cortet, Bernard, Porquet-Bordes, Valérie, Coury, Fabienne, Geneviève, David, Chiesa, Jean, Colin, Thierry, Fletcher, Elaine, Guichet, Agnès, Javier, Rose-Marie, Laroche, Michel, Laurent, Michael, Lausch, Ekkehart, LeHeup, Bruno, Lukas, Cédric, Schwabe, Georg, van der Burgt, Ineke, Muti, Christine, Simon-Bouy, Brigitte, Mornet, Etienne

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Utility of genetic testing for prenatal presentations of hypophosphatasia von Sperelakis-Beedham, Brian, Taillandier, Agnès, Domingues, Christelle, Guberto, Mihelaiti, Colin, Estelle, Porquet-Bordes, Valérie, Rothenbuhler, Anya, Salles, Jean-Pierre, Wenkert, Deborah, Zankl, Andreas, Muti, Christine, Bacrot, Séverine, Simon-Bouy, Brigitte, Mornet, Etienne

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Characterization of 11 novel mutations in the tissue non-specific alkaline phosphatase gene responsible for hypophosphatasia and genotype–phenotype correlations von Brun-Heath, Isabelle, Taillandier, Agnes, Serre, Jean-Louis, Mornet, Etienne

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Evidence of a founder effect for the tissue-nonspecific alkaline phosphatase (TNSALP) gene E174K mutation in hypophosphatasia patients von Hérasse, Muriel, Spentchian, Marc, Taillandier, Agnès, Mornet, Etienne

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Delayed transport of tissue-nonspecific alkaline phosphatase with missense mutations causing hypophosphatasia von Brun-Heath, Isabelle, Lia-Baldini, Anne-Sophie, Maillard, Stéphane, Taillandier, Agnès, Utsch, Boris, Nunes, Mark E, Serre, Jean-Louis, Mornet, Etienne

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A MolecularaBased Estimation of the Prevalence of Hypophosphatasia in the European Population von Mornet, Etienne, Yvard, Alice, Taillandier, Agnes, Fauvert, Delphine, SimonaBouy, Brigitte

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Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling von Simon-Bouy, Brigitte, Taillandier, Agnès, Fauvert, Delphine, Brun-Heath, Isabelle, Serre, Jean-Louis, Armengod, Carmen G., Bialer, Martin G., Mathieu, Michèle, Cousin, Jacques, Chitayat, David, Liebelt, Jan, Feldman, Barbara, Gérard-Blanluet, Marion, Körtge-Jung, Stefani, King, Cath, Laivuori, Hannele, Le Merrer, Martine, Mehta, Sarju, Jern, Christina, Sharif, Saba, Prieur, Fabienne, Gillessen-Kaesbach, Gabriele, Zankl, Andreas, Mornet, Etienne

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Genetic analysis of adults heterozygous for ALPL mutations von Taillandier, Agnès, Domingues, Christelle, Dufour, Annika, Debiais, Françoise, Guggenbuhl, Pascal, Roux, Christian, Cormier, Catherine, Cortet, Bernard, Porquet-Bordes, Valérie, Coury, Fabienne, Geneviève, David, Chiesa, Jean, Colin, Thierry, Fletcher, Elaine, Guichet, Agnès, Javier, Rose-Marie, Laroche, Michel, Laurent, Michaël, Lausch, Ekkehart, LeHeup, Bruno, Lukas, Cédric, Schwabe, Georg, van der Burgt, Ineke, Muti, Christine, Simon-Bouy, Brigitte, Mornet, Etienne

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Diagnostic génétique d’une maladie osseuse rare : l’apport du NGS von Mornet, Etienne, Taillandier, Agnès, Guberto, Mihelaiti, Simon-Bouy, Brigitte

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Five years of molecular diagnosis of Fragile X syndrome (1997-2001): A collaborative study reporting 95% of the activity in France von Biancalana, Valérie, Beldjord, Chérif, Taillandier, Agnès, Szpiro-Tapia, Sylvie, Cusin, Véronica, Gerson, Fabienne, Philippe, Christophe, Mandel, Jean-Louis

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Parental origin of the extra chromosome in prenatally diagnosed fetal trisomy 21 von MULLER, F, REBIFFE, M, TAILLANDIER, A, OURY, J.-F, MORNET, E

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Correlation of alkaline phosphatase (ALP) determination and analysis of the tissue non-specific ALP gene in prenatal diagnosis of severe hypophosphatasia von Mornet, Etienne, Muller, Françoise, Ngo, Sandrine, Taillandier, Agnès, Simon-Bouy, Brigitte, Maire, Irène, Oury, Jean-François

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Analysis of Germline Variation at the FMR1 CGG Repeat Shows Variation in the Normal-Premutated Borderline Range von Monet, Etienne, Chateau, Corinne, Hirst, Mark C., Thepot, François, Taillandier, Agnès, Cibois, Olivier, Serre, Jean-Louis

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Recurrent and unexpected segregation of the FMR1 CGG repeat in a family with fragile X syndrome von MORNET, E, CHATEAU, C, TAILLANDIER, A, SIMON-BOUY, B, SERRE, J.-L

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FRAXAC2 instability von Montagnon, M, Serre, J.-L, Taillandier, A, Boué, A, Simon-Bouy, B, Chateau, C, Mornet, E

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Selection of antibiotic resistance in pigs after exposure to feed cross-contaminated with oxytetracycline von Santos-Santórum Suárez, Cristina, Sanders, Pascal, Gaugain, Murielle, Viel, Alexis, Paboeuf, Frédéric, Taillandier, Jean-François, Houée, Paméla, Valentin, Charlotte, Perrin-Guyomard, Agnès

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