S. Azzi

发表

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.

G. Pinto, C. Gicquel, Y. Le Bouc, 2007, The Journal of clinical endocrinology and metabolism.

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.

Albert David, Christine Gicquel, Jun Okabe, 2010, Human molecular genetics.

Increasing knowledge in IGF1R defects: lessons from 35 new patients

Y. Le Bouc, M. Cuvelier, B. Isidor, 2019, Journal of Medical Genetics.

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

A. Afenjar, N. Philip, J. Thevenon, 2018, The Journal of clinical endocrinology and metabolism.

Genetic disruption of the oncogenic HMGA2–PLAG1–IGF2 pathway causes fetal growth restriction

T. Yuen, Y. Le Bouc, F. Tixier, 2017, Genetics in Medicine.

11p15 ICR1 Partial Deletions Associated with IGF2/H19 DMR Hypomethylation and Silver–Russell Syndrome

S. Chantot-Bastaraud, I. Netchine, S. Azzi, 2017, Human mutation.

IGF1 molecular anomalies demonstrate its critical role in fetal, postnatal growth and brain development.

M. Savage, Y. Le Bouc, I. Netchine, 2011, Best practice & research. Clinical endocrinology & metabolism.

Beckwith–Wiedemann and Russell–Silver Syndromes: from new molecular insights to the comprehension of imprinting regulation

I. Netchine, S. Azzi, Walid Abi Habib, 2014, Current opinion in endocrinology, diabetes, and obesity.

Exhaustive methylation analysis revealed uneven profiles of methylation at IGF2/ICR1/H19 11p15 loci in Russell Silver syndrome

Y. Le Bouc, J. Tost, F. Busato, 2014, Journal of Medical Genetics.

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.

L. Pasquier, S. Lyonnet, C. Gicquel, 2014, Human molecular genetics.

Complex Tissue‐Specific Epigenotypes in Russell–Silver Syndrome Associated with 11p15 ICR1 Hypomethylation

I. Netchine, S. Rossignol, S. Azzi, 2014, Human mutation.

Epigenetic anomalies in childhood growth disorders.

Y. Le Bouc, I. Netchine, S. Rossignol, 2013, Nestle Nutrition Institute workshop series.

Imprinted anomalies in fetal and childhood growth disorders: the model of Russell-Silver and Beckwith-Wiedemann syndromes.

Y. Le Bouc, I. Netchine, S. Rossignol, 2012, Endocrine development.

Epigenetics, genomic imprinting and assisted reproductive technology.

C. Gicquel, Y. Le Bouc, I. Netchine, 2010, Annales d'endocrinologie.

Lessons from imprinted multilocus loss of methylation in human syndromes: A step toward understanding the mechanisms underlying these complex diseases

Y. Le Bouc, I. Netchine, S. Rossignol, 2010, Epigenetics.

Partial primary deficiency of insulin-like growth factor (IGF)-I activity associated with IGF1 mutation demonstrates its critical role in growth and brain development.

J. Mester, Y. Le Bouc, J. Ricort, 2009, Journal of Clinical Endocrinology and Metabolism.

Partial primary deficiency of insulin-like growth factor (IGF)-I activity associated with IGF1 mutation demonstrates its critical role in growth and brain development.

J. Mester, Y. Le Bouc, J. Ricort, 2009, The Journal of clinical endocrinology and metabolism.

SNP arrays in Beckwith-Wiedemann syndrome: an improved diagnostic strategy.

C. Depienne, A. Brice, Y. Le Bouc, 2013, European journal of medical genetics.

Degree of methylation of ZAC1 (PLAGL1) is associated with prenatal and post-natal growth in healthy infants of the EDEN mother child cohort

J. Souberbielle, Y. Le Bouc, M. Charles, 2014, Epigenetics.

Human Fetal Growth Disorders and Imprinting Anomalies

C. Gicquel, I. Netchine, S. Rossignol, 2014 .

Genetic variants within the second intron of the KCNQ1 gene affect CTCF binding and confer a risk of Beckwith–Wiedemann syndrome upon maternal transmission

Abdul Waheed Khan, P. Déhais, A. El-Osta, 2014, Journal of Medical Genetics.

New insights into the pathogenesis of beckwith–wiedemann and silver–russell syndromes: Contribution of small copy number variations to 11p15 imprinting defects

L. Faivre, A. El-Osta, C. Gicquel, 2011, Human mutation.

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.

C. Gicquel, Y. Le Bouc, S. Cabrol, 2009, Human molecular genetics.

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

C. Gicquel, Y. Le Bouc, I. Netchine, 2011, Human mutation.

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

S. Chantot-Bastaraud, I. Netchine, S. Azzi, 2015, Journal of Medical Genetics.

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

Y. Le Bouc, S. Chantot-Bastaraud, J. Siffroi, 2017, Journal of Medical Genetics.

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

A. Barlier, Stéphanie Maupetit-Méhouas, C. Reynès, 2013, Human mutation.