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670 related items for PubMed ID: 19407494

  • 1. Silver-Russell and Beckwith-Wiedemann syndromes: opposite (epi)mutations in 11p15 result in opposite clinical pictures.
    Eggermann T.
    Horm Res; 2009 Apr; 71 Suppl 2():30-5. PubMed ID: 19407494
    [Abstract] [Full Text] [Related]

  • 2. (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 Apr; 49(5):414-8. PubMed ID: 16603426
    [Abstract] [Full Text] [Related]

  • 3. Epigenetic regulation of growth: lessons from Silver-Russell syndrome.
    Eggermann T.
    Endocr Dev; 2009 Apr; 14():10-9. PubMed ID: 19293571
    [Abstract] [Full Text] [Related]

  • 4. Growth retardation versus overgrowth: Silver-Russell syndrome is genetically opposite to Beckwith-Wiedemann syndrome.
    Eggermann T, Eggermann K, Schönherr N.
    Trends Genet; 2008 Apr; 24(4):195-204. PubMed ID: 18329128
    [Abstract] [Full Text] [Related]

  • 5. 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; 44(1):59-63. PubMed ID: 16963484
    [Abstract] [Full Text] [Related]

  • 6. Epigenetic deregulation of imprinting in congenital diseases of aberrant growth.
    Delaval K, Wagschal A, Feil R.
    Bioessays; 2006 May; 28(5):453-9. PubMed ID: 16615080
    [Abstract] [Full Text] [Related]

  • 7. Epigenetic mutations in 11p15 in Silver-Russell syndrome are restricted to the telomeric imprinting domain.
    Eggermann T, Schönherr N, Meyer E, Obermann C, Mavany M, Eggermann K, Ranke MB, Wollmann HA.
    J Med Genet; 2006 Jul; 43(7):615-6. PubMed ID: 16236811
    [Abstract] [Full Text] [Related]

  • 8. 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; 32(10):1171-82. PubMed ID: 21780245
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. Epigenetic and genetic alterations of the imprinting disorder Beckwith-Wiedemann syndrome and related disorders.
    Soejima H, Higashimoto K.
    J Hum Genet; 2013 Jul 15; 58(7):402-9. PubMed ID: 23719190
    [Abstract] [Full Text] [Related]

  • 11. 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
    [Abstract] [Full Text] [Related]

  • 12. 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
    [Abstract] [Full Text] [Related]

  • 13. Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome.
    Gicquel C, Rossignol S, Cabrol S, Houang M, Steunou V, Barbu V, Danton F, Thibaud N, Le Merrer M, Burglen L, Bertrand AM, Netchine I, Le Bouc Y.
    Nat Genet; 2005 Sep 01; 37(9):1003-7. PubMed ID: 16086014
    [Abstract] [Full Text] [Related]

  • 14. Molecular biology of Beckwith-Wiedemann syndrome.
    Weksberg R, Squire JA.
    Med Pediatr Oncol; 1996 Nov 01; 27(5):462-9. PubMed ID: 8827075
    [Abstract] [Full Text] [Related]

  • 15. A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes.
    Russo S, Calzari L, Mussa A, Mainini E, Cassina M, Di Candia S, Clementi M, Guzzetti S, Tabano S, Miozzo M, Sirchia S, Finelli P, Prontera P, Maitz S, Sorge G, Calcagno A, Maghnie M, Divizia MT, Melis D, Manfredini E, Ferrero GB, Pecile V, Larizza L.
    Clin Epigenetics; 2016 Nov 01; 8():23. PubMed ID: 26933465
    [Abstract] [Full Text] [Related]

  • 16. Is maternal duplication of 11p15 associated with Silver-Russell syndrome?
    Eggermann T, Meyer E, Obermann C, Heil I, Schüler H, Ranke MB, Eggermann K, Wollmann HA.
    J Med Genet; 2005 May 01; 42(5):e26. PubMed ID: 15863658
    [Abstract] [Full Text] [Related]

  • 17. 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
    [Abstract] [Full Text] [Related]

  • 18. 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
    [Abstract] [Full Text] [Related]

  • 19. A review of known imprinting syndromes and their association with assisted reproduction technologies.
    Amor DJ, Halliday J.
    Hum Reprod; 2008 Dec 01; 23(12):2826-34. PubMed ID: 18703582
    [Abstract] [Full Text] [Related]

  • 20. Beckwith-Wiedemann syndrome.
    Weksberg R, Shuman C, Smith AC.
    Am J Med Genet C Semin Med Genet; 2005 Aug 15; 137C(1):12-23. PubMed ID: 16010676
    [Abstract] [Full Text] [Related]

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