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Journal Abstract Search

420 related items for PubMed ID: 16086014

  • 1. 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; 37(9):1003-7. PubMed ID: 16086014
    [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 Sep; 49(5):414-8. PubMed ID: 16603426
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  • 3. 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]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. Broad clinical spectrum in Silver-Russell syndrome and consequences for genetic testing in growth retardation.
    Eggermann T, Gonzalez D, Spengler S, Arslan-Kirchner M, Binder G, Schönherr N.
    Pediatrics; 2009 May 01; 123(5):e929-31. PubMed ID: 19364767
    [Abstract] [Full Text] [Related]

  • 6. 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 01; 43(7):615-6. PubMed ID: 16236811
    [Abstract] [Full Text] [Related]

  • 7. Silver-Russell and Beckwith-Wiedemann syndromes: opposite (epi)mutations in 11p15 result in opposite clinical pictures.
    Eggermann T.
    Horm Res; 2009 Apr 01; 71 Suppl 2():30-5. PubMed ID: 19407494
    [Abstract] [Full Text] [Related]

  • 8. Silver-Russell syndrome and its genetic origins.
    Rossignol S.
    J Endocrinol Invest; 2006 Apr 01; 29(1 Suppl):9-10. PubMed ID: 16615300
    [Abstract] [Full Text] [Related]

  • 9. Epigenetics in Silver-Russell syndrome.
    Rossignol S, Netchine I, Le Bouc Y, Gicquel C.
    Best Pract Res Clin Endocrinol Metab; 2008 Jun 01; 22(3):403-14. PubMed ID: 18538282
    [Abstract] [Full Text] [Related]

  • 10. ICR1 epimutations in llp15 are restricted to patients with Silver-Russell syndrome features.
    Eggermann T, Meyer E, Caglayan AO, Dundar M, Schönherr N.
    J Pediatr Endocrinol Metab; 2008 Jan 01; 21(1):59-62. PubMed ID: 18404973
    [Abstract] [Full Text] [Related]

  • 11. Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes.
    Bartholdi D, Krajewska-Walasek M, Ounap K, Gaspar H, Chrzanowska KH, Ilyana H, Kayserili H, Lurie IW, Schinzel A, Baumer A.
    J Med Genet; 2009 Mar 01; 46(3):192-7. PubMed ID: 19066168
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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
    [Abstract] [Full Text] [Related]

  • 15. The endocrine phenotype in silver-russell syndrome is defined by the underlying epigenetic alteration.
    Binder G, Seidel AK, Martin DD, Schweizer R, Schwarze CP, Wollmann HA, Eggermann T, Ranke MB.
    J Clin Endocrinol Metab; 2008 Apr 01; 93(4):1402-7. PubMed ID: 18230663
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  • 17. Mosaic maternal uniparental disomy of chromosome 11 in a patient with Silver-Russell syndrome.
    Bullman H, Lever M, Robinson DO, Mackay DJ, Holder SE, Wakeling EL.
    J Med Genet; 2008 Jun 01; 45(6):396-9. PubMed ID: 18474587
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  • 19. 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]

  • 20. Epigenetic anomalies in childhood growth disorders.
    Netchine I, Rossignol S, Azzi S, Le Bouc Y.
    Nestle Nutr Inst Workshop Ser; 2013 Aug 01; 71():65-73. PubMed ID: 23502140
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