Publications by authors named "Azzi Salah"

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Increasing knowledge in defects: lessons from 35 new patients.
Eloïse Giabicani, Marjolaine Willems, Virginie Steunou, Sandra Chantot-Bastaraud, Nathalie Thibaud, Salah Azzi

J Med Genet· March 2020

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Transcriptional profiling at the domain explains clinical overlap between imprinting disorders.
Walid Abi Habib, Frédéric Brioude, Salah Azzi, Sylvie Rossignol, Agnès Linglart

Sci Adv· February 2019

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Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome.
Sophie Geoffron, Walid Abi Habib, Sandra Chantot-Bastaraud, Béatrice Dubern, Virginie Steunou, Salah Azzi

J Clin Endocrinol Metab· July 2018

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Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences.
Solveig Heide, Sandra Chantot-Bastaraud, Boris Keren, Madeleine D Harbison, Salah Azzi

J Med Genet· March 2018

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Genetic disruption of the oncogenic HMGA2-PLAG1-IGF2 pathway causes fetal growth restriction.
Walid Abi Habib, Frédéric Brioude, Thomas Edouard, James T Bennett, Anne Lienhardt-Roussie, Salah Azzi

Genet Med· February 2018

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11p15 ICR1 Partial Deletions Associated with IGF2/H19 DMR Hypomethylation and Silver-Russell Syndrome.
Walid Abi Habib, Frederic Brioude, Salah Azzi, Jennifer Salem, Cristina Das Neves

Hum Mutat· January 2017

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A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome.
Salah Azzi, Jennifer Salem, Nathalie Thibaud, Sandra Chantot-Bastaraud, Eli Lieber

J Med Genet· July 2015

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Exhaustive methylation analysis revealed uneven profiles of methylation at IGF2/ICR1/H19 11p15 loci in Russell Silver syndrome.
Salah Azzi, Virginie Steunou, Jörg Tost, Sylvie Rossignol, Nathalie Thibaud

J Med Genet· January 2015

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Human imprinting anomalies in fetal and childhood growth disorders: clinical implications and molecular mechanisms.
Salah Azzi, Fréderic Brioude, Yves Le Bouc, Irène Netchine

Curr Pharm Des· December 2014

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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.
Walid Abi Habib, Salah Azzi, Frédéric Brioude, Virginie Steunou, Nathalie Thibaud

Hum Mol Genet· November 2014

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Complex tissue-specific epigenotypes in Russell-Silver Syndrome associated with 11p15 ICR1 hypomethylation.
Salah Azzi, Annick Blaise, Virginie Steunou, Madeleine D Harbison, Jennifer Salem

Hum Mutat· October 2014

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Genetic variants within the second intron of the KCNQ1 gene affect CTCF binding and confer a risk of Beckwith-Wiedemann syndrome upon maternal transmission.
Julie Demars, Mansur Ennuri Shmela, Abdul Waheed Khan, Kai Syin Lee, Salah Azzi

J Med Genet· August 2014

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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.
Salah Azzi, Theo C J Sas, Yves Koudou, Yves Le Bouc, Jean-Claude Souberbielle

Epigenetics· March 2014

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Beckwith-Wiedemann and Russell-Silver Syndromes: from new molecular insights to the comprehension of imprinting regulation.
Salah Azzi, Walid Abi Habib, Irene Netchine

Curr Opin Endocrinol Diabetes Obes· February 2014

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Epigenetic anomalies in childhood growth disorders.
Irène Netchine, Sylvie Rossignol, Salah Azzi, Yves Le Bouc

Nestle Nutr Inst Workshop Ser· October 2013

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SNP arrays in Beckwith-Wiedemann syndrome: an improved diagnostic strategy.
Boris Keren, Sandra Chantot-Bastaraud, Frédéric Brioude, Corinne Mach, Eric Fonteneau, Salah Azzi

Eur J Med Genet· October 2013

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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.
Stéphanie Maupetit-Méhouas, Salah Azzi, Virginie Steunou, Nathalie Sakakini, Caroline Silve

Hum Mutat· August 2013

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Imprinted anomalies in fetal and childhood growth disorders: the model of Russell-Silver and Beckwith-Wiedemann syndromes.
Irène Netchine, Sylvie Rossignol, Salah Azzi, Fréderic Brioude, Yves Le Bouc

Endocr Dev· May 2013

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Possible association between complex congenital heart defects and 11p15 hypomethylation in three patients with severe Silver-Russell syndrome.
Mustafa Ghanim, Sylvie Rossignol, Bruno Delobel, Melita Irving, Owen Miller, Azzi Salah

Am J Med Genet A· March 2013

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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.
Julie Demars, Sylvie Rossignol, Irène Netchine, Kai Syin Lee, Mansur Shmela, Salah Azzi

Hum Mutat· October 2011

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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.
Salah Azzi, Virginie Steunou, Alexandra Rousseau, Sylvie Rossignol, Nathalie Thibaud

Hum Mutat· February 2011

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IGF1 molecular anomalies demonstrate its critical role in fetal, postnatal growth and brain development.
Irène Netchine, Salah Azzi, Yves Le Bouc, Martin O Savage

Best Pract Res Clin Endocrinol Metab· February 2011

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Lessons from imprinted multilocus loss of methylation in human syndromes: A step toward understanding the mechanisms underlying these complex diseases.
Salah Azzi, Sylvie Rossignol, Yves Le Bouc, Irène Netchine

Epigenetics· July 2010

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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.
Julie Demars, Mansur Ennuri Shmela, Sylvie Rossignol, Jun Okabe, Irène Netchine, Salah Azzi

Hum Mol Genet· March 2010

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[Epigenetics, genomic imprinting and developmental disorders].
Yves Le Bouc, Sylvie Rossignol, Salah Azzi, Frédéric Brioude, Sylvie Cabrol

Bull Acad Natl Med· February 2010

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