A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome
Azzi, Salah, Salem, Jennifer, Thibaud, Nathalie, Chantot-Bastaraud, Sandra, Lieber, Eli, Netchine, Irène, Harbison, Madeleine D
Published in Journal of medical genetics (01.07.2015)
Published in Journal of medical genetics (01.07.2015)
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Genetic disruption of the oncogenic HMGA2–PLAG1–IGF2 pathway causes fetal growth restriction
Abi Habib, Walid, Brioude, Frédéric, Edouard, Thomas, Bennett, James T, Lienhardt-Roussie, Anne, Tixier, Frédérique, Salem, Jennifer, Yuen, Tony, Azzi, Salah, Le Bouc, Yves, Harbison, Madeleine D, Netchine, Irène
Published in Genetics in medicine (01.02.2018)
Published in Genetics in medicine (01.02.2018)
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IGF1 molecular anomalies demonstrate its critical role in fetal, postnatal growth and brain development
Netchine, Irène, MD, PhD, Azzi, Salah, PhD, Le Bouc, Yves, MD, PhD, Savage, Martin O., MD
Published in Baillière's best practice & research. Clinical endocrinology & metabolism (01.02.2011)
Published in Baillière's best practice & research. Clinical endocrinology & metabolism (01.02.2011)
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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
Netchine, Irène, Rossignol, Sylvie, Dufourg, Marie-Noëlle, Azzi, Salah, Rousseau, Alexandra, Perin, Laurence, Houang, Muriel, Steunou, Virginie, Esteva, Blandine, Thibaud, Nathalie, Raux Demay, Marie-Charles, Danton, Fabienne, Petriczko, Elzbieta, Bertrand, Anne-Marie, Heinrichs, Claudine, Carel, Jean-Claude, Loeuille, Guy-André, Pinto, Graziella, Jacquemont, Marie-Line, Gicquel, Christine, Cabrol, Sylvie, Le Bouc, Yves
Published in The journal of clinical endocrinology and metabolism (01.08.2007)
Published in The journal of clinical endocrinology and metabolism (01.08.2007)
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Allele-specific methylated multiplex real-time quantitative PCR (ASMM RTQ-PCR), a powerful method for diagnosing loss of imprinting of the 11p15 region in Russell Silver and Beckwith Wiedemann syndromes
Azzi, Salah, Steunou, Virginie, Rousseau, Alexandra, Rossignol, Sylvie, Thibaud, Nathalie, Danton, Fabienne, Le Jule, Marilyne, Gicquel, Christine, Le Bouc, Yves, Netchine, Irène
Published in Human mutation (01.02.2011)
Published in Human mutation (01.02.2011)
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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
Azzi, Salah, Rossignol, Sylvie, Steunou, Virginie, Sas, Theo, Thibaud, Nathalie, Danton, Fabienne, Le Jule, Maryline, Heinrichs, Claudine, Cabrol, Sylvie, Gicquel, Christine, Le Bouc, Yves, Netchine, Irene
Published in Human molecular genetics (15.12.2009)
Published in Human molecular genetics (15.12.2009)
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Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences
Heide, Solveig, Chantot-Bastaraud, Sandra, Keren, Boris, Harbison, Madeleine D, Azzi, Salah, Rossignol, Sylvie, Michot, Caroline, Lackmy-Port Lys, Marilyn, Demeer, Bénédicte, Heinrichs, Claudine, Newfield, Ron S, Sarda, Pierre, Van Maldergem, Lionel, Trifard, Véronique, Giabicani, Eloise, Siffroi, Jean-Pierre, Le Bouc, Yves, Netchine, Irène, Brioude, Frédéric
Published in Journal of medical genetics (01.03.2018)
Published in Journal of medical genetics (01.03.2018)
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11p15 ICR1 Partial Deletions Associated with IGF2/H19 DMR Hypomethylation and Silver–Russell Syndrome
Abi Habib, Walid, Brioude, Frederic, Azzi, Salah, Salem, Jennifer, Das Neves, Cristina, Personnier, Claire, Chantot‐Bastaraud, Sandra, Keren, Boris, Bouc, Yves, Harbison, Madeleine D., Netchine, Irene
Published in Human mutation (01.01.2017)
Published in Human mutation (01.01.2017)
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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
Demars, Julie, Shmela, Mansur Ennuri, Rossignol, Sylvie, Okabe, Jun, Netchine, Irène, Azzi, Salah, Cabrol, Sylvie, Le Caignec, Cédric, David, Albert, Le Bouc, Yves, El-Osta, Assam, Gicquel, Christine
Published in Human molecular genetics (01.03.2010)
Published in Human molecular genetics (01.03.2010)
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Partial Primary Deficiency of Insulin-Like Growth Factor (IGF)-I Activity Associated with IGF1 Mutation Demonstrates Its Critical Role in Growth and Brain Development
Netchine, Irène, Azzi, Salah, Houang, Muriel, Seurin, Danielle, Perin, Laurence, Ricort, Jean-Marc, Daubas, Claudine, Legay, Christine, Mester, Jan, Herich, Robert, Godeau, François, Le Bouc, Yves
Published in The journal of clinical endocrinology and metabolism (01.10.2009)
Published in The journal of clinical endocrinology and metabolism (01.10.2009)
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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
Abi Habib, Walid, Azzi, Salah, Brioude, Frédéric, Steunou, Virginie, Thibaud, Nathalie, Das Neves, Cristina, Le Jule, Marilyne, Chantot-Bastaraud, Sandra, Keren, Boris, Lyonnet, Stanislas, Michot, Caroline, Rossi, Massimiliano, Pasquier, Laurent, Gicquel, Christine, Rossignol, Sylvie, Le Bouc, Yves, Netchine, Irène
Published in Human molecular genetics (01.11.2014)
Published in Human molecular genetics (01.11.2014)
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Increasing knowledge in IGF1R defects: lessons from 35 new patients
Giabicani, Eloïse, Willems, Marjolaine, Steunou, Virginie, Chantot-Bastaraud, Sandra, Thibaud, Nathalie, Abi Habib, Walid, Azzi, Salah, Lam, Bich, Bérard, Laurence, Bony-Trifunovic, Hélène, Brachet, Cécile, Brischoux-Boucher, Elise, Caldagues, Emmanuelle, Coutant, Regis, Cuvelier, Marie-Laure, Gelwane, Georges, Guemas, Isabelle, Houang, Muriel, Isidor, Bertrand, Jeandel, Claire, Lespinasse, James, Naud-Saudreau, Catherine, Jesuran-Perelroizen, Monique, Perrin, Laurence, Piard, Juliette, Sechter, Claire, Souchon, Pierre-François, Storey, Caroline, Thomas, Domitille, Le Bouc, Yves, Rossignol, Sylvie, Netchine, Irène, Brioude, Frédéric
Published in Journal of medical genetics (01.03.2020)
Published in Journal of medical genetics (01.03.2020)
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Complex Tissue-Specific Epigenotypes in Russell-Silver Syndrome Associated with 11p15 ICR1 Hypomethylation
Azzi, Salah, Blaise, Annick, Steunou, Virginie, Harbison, Madeleine D., Salem, Jennifer, Brioude, Frédéric, Rossignol, Sylvie, Habib, Walid Abi, Thibaud, Nathalie, Neves, Cristina Das, Jule, Marilyne Le, Brachet, Cécile, Heinrichs, Claudine, Bouc, Yves Le, Netchine, Irène
Published in Human mutation (01.10.2014)
Published in Human mutation (01.10.2014)
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Simultaneous Hyper- and Hypomethylation at Imprinted Loci in a Subset of Patients with GNAS Epimutations Underlies a Complex and Different Mechanism of Multilocus Methylation Defect in Pseudohypoparathyroidism Type 1b
Maupetit-Méhouas, Stéphanie, Azzi, Salah, Steunou, Virginie, Sakakini, Nathalie, Silve, Caroline, Reynes, Christelle, Perez de Nanclares, Guiomar, Keren, Boris, Chantot, Sandra, Barlier, Anne, Linglart, Agnès, Netchine, Irène
Published in Human mutation (01.08.2013)
Published in Human mutation (01.08.2013)
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Degree of methylation of ZAC1 (PLAGL1) is associated with prenatal and post-natal growth in healthy infants of the EDEN mother child cohort
Azzi, Salah, Sas, Theo C J, Koudou, Yves, Le Bouc, Yves, Souberbielle, Jean-Claude, Dargent-Molina, Patricia, Netchine, Irène, Charles, Marie-Aline
Published in Epigenetics (01.03.2014)
Published in Epigenetics (01.03.2014)
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New insights into the pathogenesis of beckwith-wiedemann and silver-russell syndromes: Contribution of small copy number variations to 11p15 imprinting defects
Demars, Julie, Rossignol, Sylvie, Netchine, Irène, Lee, Kai Syin, Shmela, Mansur, Faivre, Laurence, Weill, Jacques, Odent, Sylvie, Azzi, Salah, Callier, Patrick, Lucas, Josette, Dubourg, Christèle, Andrieux, Joris, Le Bouc, Yves, El-Osta, Assam, Gicquel, Christine
Published in Human mutation (01.10.2011)
Published in Human mutation (01.10.2011)
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