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615 related items for PubMed ID: 19755383

  • 1. 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.
    Azzi S, Rossignol S, Steunou V, Sas T, Thibaud N, Danton F, Le Jule M, Heinrichs C, Cabrol S, Gicquel C, Le Bouc Y, Netchine I.
    Hum Mol Genet; 2009 Dec 15; 18(24):4724-33. PubMed ID: 19755383
    [Abstract] [Full Text] [Related]

  • 2. Imprinted anomalies in fetal and childhood growth disorders: the model of Russell-Silver and Beckwith-Wiedemann syndromes.
    Netchine I, Rossignol S, Azzi S, Brioude F, Le Bouc Y.
    Endocr Dev; 2012 Dec 15; 23():60-70. PubMed ID: 23182821
    [Abstract] [Full Text] [Related]

  • 3. 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.
    Azzi S, Steunou V, Rousseau A, Rossignol S, Thibaud N, Danton F, Le Jule M, Gicquel C, Le Bouc Y, Netchine I.
    Hum Mutat; 2011 Feb 15; 32(2):249-58. PubMed ID: 21280150
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  • 4. Epigenetic anomalies in childhood growth disorders.
    Netchine I, Rossignol S, Azzi S, Le Bouc Y.
    Nestle Nutr Inst Workshop Ser; 2013 Feb 15; 71():65-73. PubMed ID: 23502140
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  • 5. New insights into the pathogenesis of Beckwith-Wiedemann and Silver-Russell syndromes: contribution of small copy number variations to 11p15 imprinting defects.
    Demars J, Rossignol S, Netchine I, Lee KS, Shmela M, Faivre L, Weill J, Odent S, Azzi S, Callier P, Lucas J, Dubourg C, Andrieux J, Le Bouc Y, El-Osta A, Gicquel C.
    Hum Mutat; 2011 Oct 15; 32(10):1171-82. PubMed ID: 21780245
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  • 6. (Epi)mutations in 11p15 significantly contribute to Silver-Russell syndrome: but are they generally involved in growth retardation?
    Schönherr N, Meyer E, Eggermann K, Ranke MB, Wollmann HA, Eggermann T.
    Eur J Med Genet; 2006 Oct 15; 49(5):414-8. PubMed ID: 16603426
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  • 7. [Epigenetics, genomic imprinting and developmental disorders].
    Le Bouc Y, Rossignol S, Azzi S, Brioude F, Cabrol S, Gicquel C, Netchine I.
    Bull Acad Natl Med; 2010 Feb 15; 194(2):287-97; discussion 297-300. PubMed ID: 21166119
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  • 8. 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.
    Demars J, Shmela ME, Rossignol S, Okabe J, Netchine I, Azzi S, Cabrol S, Le Caignec C, David A, Le Bouc Y, El-Osta A, Gicquel C.
    Hum Mol Genet; 2010 Mar 01; 19(5):803-14. PubMed ID: 20007505
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  • 10. Epigenetic and genetic alterations of the imprinting disorder Beckwith-Wiedemann syndrome and related disorders.
    Soejima H, Higashimoto K.
    J Hum Genet; 2013 Jul 01; 58(7):402-9. PubMed ID: 23719190
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  • 11. Epigenetic and genetic disturbance of the imprinted 11p15 region in Beckwith-Wiedemann and Silver-Russell syndromes.
    Demars J, Gicquel C.
    Clin Genet; 2012 Apr 01; 81(4):350-61. PubMed ID: 22150955
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  • 12. Exhaustive methylation analysis revealed uneven profiles of methylation at IGF2/ICR1/H19 11p15 loci in Russell Silver syndrome.
    Azzi S, Steunou V, Tost J, Rossignol S, Thibaud N, Das Neves C, Le Jule M, Habib WA, Blaise A, Koudou Y, Busato F, Le Bouc Y, Netchine I.
    J Med Genet; 2015 Jan 01; 52(1):53-60. PubMed ID: 25395389
    [Abstract] [Full Text] [Related]

  • 13. The centromeric 11p15 imprinting centre is also involved in Silver-Russell syndrome.
    Schönherr N, Meyer E, Roos A, Schmidt A, Wollmann HA, Eggermann T.
    J Med Genet; 2007 Jan 01; 44(1):59-63. PubMed ID: 16963484
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  • 14. No evidence for additional imprinting defects in Silver-Russell syndrome patients with maternal uniparental disomy 7 or 11p15 epimutation.
    Schönherr N, Meyer E, Binder G, Wollmann HA, Eggermann T.
    J Pediatr Endocrinol Metab; 2007 Dec 01; 20(12):1329-31. PubMed ID: 18341093
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  • 15. Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith-Wiedemann syndrome.
    Gaston V, Le Bouc Y, Soupre V, Burglen L, Donadieu J, Oro H, Audry G, Vazquez MP, Gicquel C.
    Eur J Hum Genet; 2001 Jun 01; 9(6):409-18. PubMed ID: 11436121
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  • 17. 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.
    Netchine I, Rossignol S, Dufourg MN, Azzi S, Rousseau A, Perin L, Houang M, Steunou V, Esteva B, Thibaud N, Demay MC, Danton F, Petriczko E, Bertrand AM, Heinrichs C, Carel JC, Loeuille GA, Pinto G, Jacquemont ML, Gicquel C, Cabrol S, Le Bouc Y.
    J Clin Endocrinol Metab; 2007 Aug 01; 92(8):3148-54. PubMed ID: 17504900
    [Abstract] [Full Text] [Related]

  • 18. Beckwith-Wiedemann and Silver-Russell syndromes: opposite developmental imbalances in imprinted regulators of placental function and embryonic growth.
    Jacob KJ, Robinson WP, Lefebvre L.
    Clin Genet; 2013 Oct 01; 84(4):326-34. PubMed ID: 23495910
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  • 19. A patient with multilocus imprinting disturbance involving hypomethylation at 11p15 and 14q32, and phenotypic features of Beckwith-Wiedemann and Temple syndromes.
    Grosvenor SE, Davies JH, Lever M, Sillibourne J, Mackay DJG, Temple IK.
    Am J Med Genet A; 2022 Jun 01; 188(6):1896-1903. PubMed ID: 35266280
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  • 20. Silver-Russell patients showing a broad range of ICR1 and ICR2 hypomethylation in different tissues.
    Begemann M, Spengler S, Kanber D, Haake A, Baudis M, Leisten I, Binder G, Markus S, Rupprecht T, Segerer H, Fricke-Otto S, Mühlenberg R, Siebert R, Buiting K, Eggermann T.
    Clin Genet; 2011 Jul 01; 80(1):83-8. PubMed ID: 20738330
    [Abstract] [Full Text] [Related]

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