Hakutulokset - Salah Azzi
- Näytetään 1 - 12 yhteensä 12 tuloksesta
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1
A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome Tekijä Salah Azzi, Jennifer Ben Salem, Nathalie Thibaud, Sandra Chantot‐Bastaraud, Eli Lieber, Irène Netchine, Madeleine D. Harbison
Julkaistu 2015Artigo -
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 Tekijä Salah Azzi, Theo Sas, Yves Akoli Koudou, Yves Le Bouc, Jean‐Claude Souberbielle, Patricia Dargent‐Molina, Irène Netchine, Marie‐Aline Charles
Julkaistu 2013Artigo -
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 Tekijä 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
Julkaistu 2009Artigo -
4
Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylatio... Tekijä 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
Julkaistu 2009Artigo -
5
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 Tekijä 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
Julkaistu 2009Artigo -
6
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... Tekijä 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
Julkaistu 2013Artigo -
7
Genetic disruption of the oncogenic HMGA2–PLAG1–IGF2 pathway causes fetal growth restriction Tekijä 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
Julkaistu 2017Artigo -
8
New insights into the pathogenesis of beckwith-wiedemann and silver-russell syndromes: Contribution of small copy number variations to 11p15 imprinting defects Tekijä 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
Julkaistu 2011Artigo -
9
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... Tekijä 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
Julkaistu 2014Artigo -
10
Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences Tekijä 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
Julkaistu 2017Artigo -
11
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... Tekijä 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
Julkaistu 2007Artigo -
12
Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome Tekijä 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
Julkaistu 2018Artigo
Työkalut:
Liittyvät aiheet
Biology
Genetics
Gene
DNA methylation
Gene expression
Genomic imprinting
Medicine
Methylation
Beckwith–Wiedemann syndrome
Imprinting (psychology)
Internal medicine
Epigenetics
Endocrinology
Phenotype
Pregnancy
Allele
Birth weight
Chromosome
Fetus
Genome
Locus (genetics)
Macrocephaly
Mutation
Pediatrics
Andrology
Bioinformatics
Body mass index
CRISPR
CTCF
Calcium