Výsledky vyhledávání - Salah Azzi

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  1. 1
    A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome

    A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome Autor Salah Azzi, Jennifer Ben Salem, Nathalie Thibaud, Sandra Chantot‐Bastaraud, Eli Lieber, Irène Netchine, Madeleine D. Harbison

    Vydáno 2015
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  2. 2
    Degree of methylation of<i>ZAC1</i>(<i>PLAGL1</i>) is associated with prenatal and post-natal growth in healthy infants of the EDEN mother child cohort

    Degree of methylation of<i>ZAC1</i>(<i>PLAGL1</i>) is associated with prenatal and post-natal growth in healthy infants of the EDEN mother child cohort Autor Salah Azzi, Theo Sas, Yves Akoli Koudou, Yves Le Bouc, Jean‐Claude Souberbielle, Patricia Dargent‐Molina, Irène Netchine, Marie‐Aline Charles

    Vydáno 2013
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  3. 3
    Partial Primary Deficiency of Insulin-Like Growth Factor (IGF)-I Activity Associated with<i>IGF1</i>Mutation Demonstrates Its Critical Role in Growth and Brain Development

    Partial Primary Deficiency of Insulin-Like Growth Factor (IGF)-I Activity Associated with<i>IGF1</i>Mutation Demonstrates Its Critical Role in Growth and Brain Development Autor Irène Netchine, Salah Azzi, Muriel Houang, Danielle Seurin, Laurence Périn, Jean‐Marc Ricort, Claudine Daubas, Christine Legay, Ján Mešter, R. Herich, François Godeau, Yves Le Bouc

    Vydáno 2009
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  4. 4
    Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci

    Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylatio... Autor Salah Azzi, Sylvie Rossignol, Virginie Steunou, Theo Sas, Nathalie Thibaud, Fabienne Danton, Maryline Le Jule, Claudine Heinrichs, Sylvie Cabrol, Christine Gicquel, Yves Le Bouc, Irène Netchine

    Vydáno 2009
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  5. 5
    Transcriptional profiling at the <i>DLK1/MEG3</i> domain explains clinical overlap between imprinting disorders

    Transcriptional profiling at the <i>DLK1/MEG3</i> domain explains clinical overlap between imprinting disorders Autor Walid Abi Habib, Frédéric Brioude, Salah Azzi, Sylvie Rossignol, Agnès Linglart, Marie‐Laure Sobrier, Éloïse Giabicani, Virginie Steunou, Madeleine D. Harbison, Yves Le Bouc, Irène Netchine

    Vydáno 2019
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  6. 6
    Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disorders

    Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disorders Autor Julie Demars, Mansur E Shmela, Sylvie Rossignol, Jun Okabe, Irène Netchine, Salah Azzi, Sylvie Cabrol, Cédric Le Caignec, Albert David, Yves Le Bouc, Assam El‐Osta, Christine Gicquel

    Vydáno 2009
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  7. 7
    Simultaneous Hyper- and Hypomethylation at Imprinted Loci in a Subset of Patients with<i>GNAS</i>Epimutations Underlies a Complex and Different Mechanism of Multilocus Methylation Defect in Pseudohypoparathyroidism Type 1b

    Simultaneous Hyper- and Hypomethylation at Imprinted Loci in a Subset of Patients with<i>GNAS</i>Epimutations Underlies a Complex and Different Mechanism of Multilocus Methylation... Autor Stéphanie Maupetit‐Mehouas, Salah Azzi, Virginie Steunou, Nathalie Sakakini, Caroline Silve, Christelle Reynès, Guiomar Pérez de Nanclares, Boris Keren, Sandra Chantot‐Bastaraud, Anne Barlier, Agnès Linglart, Irène Netchine

    Vydáno 2013
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  8. 8
    Genetic disruption of the oncogenic HMGA2–PLAG1–IGF2 pathway causes fetal growth restriction

    Genetic disruption of the oncogenic HMGA2–PLAG1–IGF2 pathway causes fetal growth restriction Autor Walid Abi Habib, Frédéric Brioude, Thomas Édouard, James T. Bennett, Anne Lienhardt-Roussie, Frédérique Tixier, Jennifer Ben Salem, Tony Yuen, Salah Azzi, Yves Le Bouc, Madeleine D. Harbison, Irène Netchine

    Vydáno 2017
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  9. 9
    New insights into the pathogenesis of beckwith-wiedemann and silver-russell syndromes: Contribution of small copy number variations to 11p15 imprinting defects

    New insights into the pathogenesis of beckwith-wiedemann and silver-russell syndromes: Contribution of small copy number variations to 11p15 imprinting defects Autor Julie Demars, Sylvie Rossignol, Irène Netchine, Kai Syin Lee, Mansur E Shmela, Laurence Faivre, Jacques Weill, Sylvie Odent, Salah Azzi, Patrick Callier, Josette Lucas, Christèle Dubourg, Joris Andrieux, Yves Le Bouc, Assam El‐Osta, Christine Gicquel

    Vydáno 2011
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  10. 10
    Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in Beckwith-Wiedemann syndrome

    Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in Beckwith-Wiedemann s... Autor Walid Abi Habib, Salah Azzi, Frédéric Brioude, Virginie Steunou, Nathalie Thibaud, Cristina Das Neves, Marilyne Le Jule, Sandra Chantot‐Bastaraud, Boris Keren, Stanislas Lyonnet, Caroline Michot, Massimiliano Rossi, Laurent Pasquier, Christine Gicquel, Sylvie Rossignol, Yves Le Bouc, Irène Netchine

    Vydáno 2014
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  11. 11
    Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences

    Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences Autor Solveig Heide, Sandra Chantot‐Bastaraud, Boris Keren, Madeleine D. Harbison, Salah Azzi, Sylvie Rossignol, Caroline Michot, Marilyn Lackmy-Port Lys, Bénédicte Demeer, Claudine Heinrichs, Ron S. Newfield, Pierre Sarda, Lionel Van Maldergem, Véronique Trifard, Éloïse Giabicani, Jean‐Pierre Siffroi, Yves Le Bouc, Irène Netchine, Frédéric Brioude

    Vydáno 2017
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  12. 12
    11p15 Imprinting Center Region 1 Loss of Methylation Is a Common and Specific Cause of Typical Russell-Silver Syndrome: Clinical Scoring System and Epigenetic-Phenotypic Correlations

    11p15 Imprinting Center Region 1 Loss of Methylation Is a Common and Specific Cause of Typical Russell-Silver Syndrome: Clinical Scoring System and Epigenetic-Phenotypic Correlatio... Autor Irène Netchine, Sylvie Rossignol, Marie‐Noëlle Dufourg, Salah Azzi, Alexandra Rousseau, Laurence Périn, Muriel Houang, Virginie Steunou, Blandine Esteva, Nathalie Thibaud, Marie-Charles Raux Demay, Fabienne Danton, Elżbieta Petriczko, Anne‐Marie Bertrand, Claudine Heinrichs, Jean‐Claude Carel, Guy‐André Loeuille, Graziella Pinto, Marie‐Line Jacquemont, Christine Gicquel, Sylvie Cabrol, Yves Le Bouc

    Vydáno 2007
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  13. 13
    Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome

    Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome Autor Sophie Geoffron, Walid Abi Habib, Sandra Chantot‐Bastaraud, B. Dubern, Virginie Steunou, Salah Azzi, Alexandra Afenjar, Tiffany Busa, Ana Pinheiro Machado Canton, Christel Chalouhi, Marie‐Noëlle Dufourg, Blandine Esteva, Mélanie Fradin, David Geneviève, Solveig Heide, Bertrand Isidor, Agnès Linglart, Fanny Morice Picard, Catherine Naud-Saudreau, Isabelle Petit, Nicole Philip, Catherine Pienkowski, Marlène Rio, Sylvie Rossignol, Maïthé Tauber, Julien Thévenon, Thuy-Ai Vu-Hong, Madeleine D. Harbison, Jennifer Ben Salem, Frédéric Brioude, Irène Netchine, Éloïse Giabicani

    Vydáno 2018
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