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 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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

Collaborators

Detail Information

Publications14

  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 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...
  3. 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. ..
  4. 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...
  5. 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...
  6. 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...
  7. 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...
  8. 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...
  9. 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...
  10. 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...
  11. 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...
  12. 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
    ....
  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 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
    ....