Irene Netchine

Summary

Country: France

Publications

  1. ncbi request reprint 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
    Irene Netchine
    Hopital Armand Trousseau, Explorations Fonctionnelles Endocriniennes, Paris 75012, France
    J Clin Endocrinol Metab 92:3148-54. 2007
  2. doi request reprint 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
    Salah Azzi
    Laboratoire d Explorations Fonctionnelles Endocriniennes, APHP, Hopital Armand Trousseau, INSERM UMR S938 Team 4, Universite Pierre et Marie Curie Paris 6, Paris, France
    Hum Mol Genet 18:4724-33. 2009
  3. doi request reprint IGF1 molecular anomalies demonstrate its critical role in fetal, postnatal growth and brain development
    Irene Netchine
    APHP, Hopital Armand Trousseau, Explorations Fonctionnelles Endocriniennes, Paris, France
    Best Pract Res Clin Endocrinol Metab 25:181-90. 2011
  4. ncbi request reprint Human imprinting anomalies in fetal and childhood growth disorders: clinical implications and molecular mechanisms
    Salah Azzi
    Explorations Fonctionnelles Endocriniennes, Hopital Armand Trousseau, Pierre and Marie Curie School of Medicine, Inserm UMR S938, 26 Av du Dr Arnold Netter, 75012, France
    Curr Pharm Des 20:1751-63. 2014
  5. doi request reprint Imprinted anomalies in fetal and childhood growth disorders: the model of Russell-Silver and Beckwith-Wiedemann syndromes
    Irene Netchine
    Laboratoire d Explorations Fonctionnelles Endocriniennes, APHP, Hopital Armand Trousseau, INSERM UMRS 938 team 4, Universite Pierre et Marie Curie Paris 6, Paris, France
    Endocr Dev 23:60-70. 2012
  6. doi request reprint Partial primary deficiency of insulin-like growth factor (IGF)-I activity associated with IGF1 mutation demonstrates its critical role in growth and brain development
    Irene Netchine
    Assistance Publique Hopitaux de Paris, Hopital Armand Trousseau, Explorations Fonctionnelles Endocriniennes, 75012 Paris, France
    J Clin Endocrinol Metab 94:3913-21. 2009
  7. doi request reprint 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
    APHP, Hopital Armand Trousseau, Laboratoire d Explorations Fonctionnelles Endocriniennes, INSERM UMR S938 Team 4, Universite Pierre et Marie Curie Paris 6, Paris, France
    Hum Mutat 32:249-58. 2011
  8. doi request reprint Exhaustive methylation analysis revealed uneven profiles of methylation at IGF2/ICR1/H19 11p15 loci in Russell Silver syndrome
    Salah Azzi
    INSERM, UMR_S 938, CdR Saint Antoine, Paris, France Sorbonne Universités, UPMC Univ Paris 06, UMR_S 938, CdR Saint Antoine, Paris, France Department of Pediatric Endocrinology, APHP, Armand Trousseau Hospital, Paris, France Epigenetics Programme, The Babraham Institute, Cambridge, UK
    J Med Genet 52:53-60. 2015
  9. ncbi request reprint Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome
    Christine Gicquel
    Laboratoire d Explorations Fonctionnelles Endocriniennes, Inserm U515 et UPMC Paris 6, Hopital Armand Trousseau, AP HP, 26 Avenue Arnold Netter, 75012 Paris, France
    Nat Genet 37:1003-7. 2005
  10. ncbi request reprint [Epigenetics, genomic imprinting and developmental disorders]
    Yves Le Bouc
    UPMC ParisVI INSERM UMRS 938, Paris, France
    Bull Acad Natl Med 194:287-97; discussion 297-300. 2010

Collaborators

Detail Information

Publications23

  1. ncbi request reprint 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
    Irene Netchine
    Hopital Armand Trousseau, Explorations Fonctionnelles Endocriniennes, Paris 75012, France
    J Clin Endocrinol Metab 92:3148-54. 2007
    ..Maternal uniparental disomy for chromosome 7 (mUPD7) is found in 5-10% of cases. We identified loss of methylation (LOM) of 11p15 Imprinting Center Region 1 (ICR1) domain (including IGF-II) as a mechanism leading to RSS...
  2. doi request reprint 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
    Salah Azzi
    Laboratoire d Explorations Fonctionnelles Endocriniennes, APHP, Hopital Armand Trousseau, INSERM UMR S938 Team 4, Universite Pierre et Marie Curie Paris 6, Paris, France
    Hum Mol Genet 18:4724-33. 2009
    ..Three of them had a RSS and one a BWS phenotype. Our results show for the first time that multilocus LOM can also concern RSS patients. Moreover, LOM can involve both paternally and maternally methylated loci in the same patient...
  3. doi request reprint IGF1 molecular anomalies demonstrate its critical role in fetal, postnatal growth and brain development
    Irene Netchine
    APHP, Hopital Armand Trousseau, Explorations Fonctionnelles Endocriniennes, Paris, France
    Best Pract Res Clin Endocrinol Metab 25:181-90. 2011
    ..Currently these patients can benefit from recombinant IGF-I which is now available for treatment. These observations demonstrate that the integrity of IGF-I signalling is important for normal growth and brain development...
  4. ncbi request reprint Human imprinting anomalies in fetal and childhood growth disorders: clinical implications and molecular mechanisms
    Salah Azzi
    Explorations Fonctionnelles Endocriniennes, Hopital Armand Trousseau, Pierre and Marie Curie School of Medicine, Inserm UMR S938, 26 Av du Dr Arnold Netter, 75012, France
    Curr Pharm Des 20:1751-63. 2014
    ..This would be beneficial for diagnostics, clinical follow up and the development of treatment guidelines. ..
  5. doi request reprint Imprinted anomalies in fetal and childhood growth disorders: the model of Russell-Silver and Beckwith-Wiedemann syndromes
    Irene Netchine
    Laboratoire d Explorations Fonctionnelles Endocriniennes, APHP, Hopital Armand Trousseau, INSERM UMRS 938 team 4, Universite Pierre et Marie Curie Paris 6, Paris, France
    Endocr Dev 23:60-70. 2012
    ..Recent studies have identified cis-acting regulatory elements and trans-acting factors involved in the regulation of 11p15 imprinting, establishing new potential mechanisms of RSS and BWS...
  6. doi request reprint Partial primary deficiency of insulin-like growth factor (IGF)-I activity associated with IGF1 mutation demonstrates its critical role in growth and brain development
    Irene Netchine
    Assistance Publique Hopitaux de Paris, Hopital Armand Trousseau, Explorations Fonctionnelles Endocriniennes, 75012 Paris, France
    J Clin Endocrinol Metab 94:3913-21. 2009
    ..IGF-I is essential for fetal and postnatal development. Only three IGF1 defects leading to dramatic loss of binding to its type 1 receptor, IGF-1R, have been reported...
  7. doi request reprint 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
    APHP, Hopital Armand Trousseau, Laboratoire d Explorations Fonctionnelles Endocriniennes, INSERM UMR S938 Team 4, Universite Pierre et Marie Curie Paris 6, Paris, France
    Hum Mutat 32:249-58. 2011
    ..This analysis demonstrated that ASMM RTQ-PCR is more sensitive than Southern blotting for detecting low degree of LOI. Moreover, ASMM RTQ-PCR is a very rapid, reliable, simple, safe, and cost effective method...
  8. doi request reprint Exhaustive methylation analysis revealed uneven profiles of methylation at IGF2/ICR1/H19 11p15 loci in Russell Silver syndrome
    Salah Azzi
    INSERM, UMR_S 938, CdR Saint Antoine, Paris, France Sorbonne Universités, UPMC Univ Paris 06, UMR_S 938, CdR Saint Antoine, Paris, France Department of Pediatric Endocrinology, APHP, Armand Trousseau Hospital, Paris, France Epigenetics Programme, The Babraham Institute, Cambridge, UK
    J Med Genet 52:53-60. 2015
    ..Despite the IGF2/ICR1/H19 locus being widely studied, the extent of hypomethylation across the domain remains not yet addressed in patients with RSS...
  9. ncbi request reprint Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome
    Christine Gicquel
    Laboratoire d Explorations Fonctionnelles Endocriniennes, Inserm U515 et UPMC Paris 6, Hopital Armand Trousseau, AP HP, 26 Avenue Arnold Netter, 75012 Paris, France
    Nat Genet 37:1003-7. 2005
    ..These findings provide new insight into the pathogenesis of SRS and strongly suggest that the 11p15 imprinted region, in addition to those of 7p11.2-p13 and 7q31-qter, is involved in SRS...
  10. ncbi request reprint [Epigenetics, genomic imprinting and developmental disorders]
    Yves Le Bouc
    UPMC ParisVI INSERM UMRS 938, Paris, France
    Bull Acad Natl Med 194:287-97; discussion 297-300. 2010
    ..This suggests that unfaithful maintenance of DNA methylation marks following fertilization involves dysregulation of a trans-acting regulatory factor...
  11. doi request reprint 11p15 ICR1 Partial Deletions Associated with IGF2/H19 DMR Hypomethylation and Silver-Russell Syndrome
    Walid Abi Habib
    INSERM, UMR_S 938, CdR Saint Antoine, Paris, F 75012, France
    Hum Mutat 38:105-111. 2017
    ..These results suggest that these regions are most likely required to maintain methylation after fertilization. We estimate these anomalies to occur in about 1% of SRS cases with ICR1 hypomethylation...
  12. doi request reprint 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
    INSERM, UMR_S 938, CdR Saint Antoine, Paris F 75012, France, Sorbonne Universités, UPMC Univ Paris 06, UMR_S 938, CdR Saint Antoine, Paris F 75012, France, Pediatric Endocrinology, APHP, Armand Trousseau Hospital, Paris, France
    Hum Mol Genet 23:5763-73. 2014
    ..Our data show that mutations and deletions within ICR1 are relatively common. Systematic identification is therefore necessary to establish appropriate genetic counseling for BWS patients with isolated ICR1 GOM. ..
  13. doi request reprint SNP arrays in Beckwith-Wiedemann syndrome: an improved diagnostic strategy
    Boris Keren
    APHP, Groupe Hospitalier Pitie Salpetriere, Département de génétique et cytogénétique, Paris, France Université Pierre et Marie Curie, Faculte de Medecine, Paris, France INSERM UMRS 975, CNRS UMR 725, Paris, France
    Eur J Med Genet 56:546-50. 2013
    ....
  14. doi request reprint Epigenetic anomalies in childhood growth disorders
    Irene Netchine
    Laboratoire d Explorations Fonctionnelles Endocriniennes, APHP, Hopital Armand Trousseau, INSERM UMRS 938 team 4, Universite Pierre et Marie Curie Paris 6, Paris, France
    Nestle Nutr Inst Workshop Ser 71:65-73. 2013
    ..Several clinical studies demonstrated that assisted reproductive technology significantly increased the risk of human imprinting diseases including BWS and RSS, suggesting that the environment may favor imprinting disorders...
  15. doi request reprint Epigenetics in Silver-Russell syndrome
    Sylvie Rossignol
    Explorations Fonctionnelles Endocriniennes, Hôpital Trousseau APHP INSERM U515 Université Pierre et Marie Curie Paris6, 26 avenue du Dr Netter, 75012 Paris, France
    Best Pract Res Clin Endocrinol Metab 22:403-14. 2008
    ..These new findings in the pathophysiology of SRS allow long-term follow-up studies to be performed based on molecular diagnosis. This could help to define appropriate clinical guidelines regarding growth and feeding difficulties...
  16. pmc A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome
    Salah Azzi
    INSERM, UMR_S 938, CdR Saint Antoine, Paris, France Sorbonne Universités, UPMC Univ Paris 06, UMR_S 938, CdR Saint Antoine, Paris, France Department of Pediatric Endocrinology, APHP, Armand Trousseau Hospital, Paris, France Epigenetics Programme, The Babraham Institute, Cambridge, UK
    J Med Genet 52:446-53. 2015
    ..Multiple clinical scoring systems have been proposed for Silver-Russell syndrome (SRS). Here we aimed to test a clinical scoring system for SRS and to analyse the correlation between (epi)genotype and phenotype...
  17. ncbi request reprint Lessons from imprinted multilocus loss of methylation in human syndromes: A step toward understanding the mechanisms underlying these complex diseases
    Salah Azzi
    APHP, Hopital Armand Trousseau, Laboratoire d Explorations Fonctionnelles Endocriniennes, INSERM UMR S938 Team 4, Universite Pierre et Marie Curie Paris 6, Paris, France
    Epigenetics 5:373-7. 2010
    ....
  18. doi request reprint Complex tissue-specific epigenotypes in Russell-Silver Syndrome associated with 11p15 ICR1 hypomethylation
    Salah Azzi
    INSERM, UMR_S 938, CdR Saint Antoine, Paris, F 75012, France Sorbonne Universités, UPMC Univ Paris 06, UMR_S 938, CdR Saint Antoine, Paris, F 75012, France APHP, Armand Trousseau Hospital, Pediatric Endocrinology, Paris, France
    Hum Mutat 35:1211-20. 2014
    ..Our new results suggest that tissue-specific epigenotypes may lead to clinical heterogeneity in RSS. ..
  19. ncbi request reprint Hypercortisolism due to a Pituitary Adenoma Associated with Beckwith-Wiedemann Syndrome
    Frédéric Brioude
    UPMC Univ Paris 06, Sorbonne Universités, Paris, France
    Horm Res Paediatr 86:206-211. 2016
    ..Most BWS patients show a molecular defect in the 11p15 region that contains imprinted genes. BWS has been associated with malignant neoplasms during infancy. Descriptions of benign tumors, especially in adult patients, are rarer...
  20. doi request reprint Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization
    Frédéric Brioude
    Sorbonne Universités, UPMC Univ Paris 06, F 75005, Paris, France
    Hum Mutat 36:894-902. 2015
    ..CDKN1C sequencing should be performed for BWS patients presenting with abdominal wall defects or cleft palate without 11p15 methylation defects or body asymmetry, or in familial cases of BWS...
  21. doi request reprint Beckwith-Wiedemann and Russell-Silver Syndromes: from new molecular insights to the comprehension of imprinting regulation
    Salah Azzi
    aAP HP, Hopital Armand Trousseau, Explorations Fonctionnelles Endocriniennes bUPMC Paris 6, UMR_S938, Centre de Recherche de Saint Antoine cINSERM, UMR_S938, Centre de Recherche de Saint Antoine, Paris, France
    Curr Opin Endocrinol Diabetes Obes 21:30-8. 2014
    ....
  22. doi request reprint New clinical and molecular insights into Silver-Russell syndrome
    Eloïse Giabicani
    aAP HP, Hopital Armand Trousseau, Explorations Fonctionnelles EndocriniennesbCentre de Recherche Saint Antoine, INSERM UMR_S938cSorbonne Universities, UPMC Univ Paris 06, Paris, France
    Curr Opin Pediatr 28:529-35. 2016
    ..The purpose of review is to summarize new outcomes for the clinical characterization, molecular strategies, and therapeutic management of Silver-Russell syndrome (SRS)...
  23. doi request reprint Prevalence and management of gastrointestinal manifestations in Silver-Russell syndrome
    Céline Marsaud
    Nutrition et Gastroentérologie Pédiatrique, AP HP, Hopital Armand Trousseau, Paris, France
    Arch Dis Child 100:353-8. 2015
    ..The aim of this study was to describe these abnormalities in a large cohort of children with SRS...