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Journal Abstract Search

248 related items for PubMed ID: 22248018

  • 1. Increased incidence of aberrant DNA methylation within diverse imprinted gene loci outside of IGF2/H19 in Silver-Russell syndrome.
    Kannenberg K, Urban C, Binder G.
    Clin Genet; 2012 Apr; 81(4):366-77. PubMed ID: 22248018
    [Abstract] [Full Text] [Related]

  • 2. 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; 52(1):53-60. PubMed ID: 25395389
    [Abstract] [Full Text] [Related]

  • 3. 11p15 ICR1 Partial Deletions Associated with IGF2/H19 DMR Hypomethylation and Silver-Russell Syndrome.
    Abi Habib W, Brioude F, Azzi S, Salem J, Das Neves C, Personnier C, Chantot-Bastaraud S, Keren B, Le Bouc Y, Harbison MD, Netchine I.
    Hum Mutat; 2017 Jan; 38(1):105-111. PubMed ID: 27701793
    [Abstract] [Full Text] [Related]

  • 4. 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; 46(3):192-7. PubMed ID: 19066168
    [Abstract] [Full Text] [Related]

  • 5. IGF-I sensitivity in Silver-Russell syndrome with IGF2/H19 hypomethylation.
    Iliev DI, Kannenberg K, Weber K, Binder G.
    Growth Horm IGF Res; 2014 Oct; 24(5):187-91. PubMed ID: 25066218
    [Abstract] [Full Text] [Related]

  • 6. Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver-Russell syndrome and growth retardation.
    Grønskov K, Poole RL, Hahnemann JM, Thomson J, Tümer Z, Brøndum-Nielsen K, Murphy R, Ravn K, Melchior L, Dedic A, Dolmer B, Temple IK, Boonen SE, Mackay DJ.
    J Med Genet; 2011 May; 48(5):308-11. PubMed ID: 21278389
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. 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]

  • 9. Complex tissue-specific epigenotypes in Russell-Silver Syndrome associated with 11p15 ICR1 hypomethylation.
    Azzi S, Blaise A, Steunou V, Harbison MD, Salem J, Brioude F, Rossignol S, Habib WA, Thibaud N, Neves CD, Jule ML, Brachet C, Heinrichs C, Bouc YL, Netchine I.
    Hum Mutat; 2014 Oct 01; 35(10):1211-20. PubMed ID: 25044976
    [Abstract] [Full Text] [Related]

  • 10. IGF2/H19 hypomethylation in Silver-Russell syndrome and isolated hemihypoplasia.
    Zeschnigk M, Albrecht B, Buiting K, Kanber D, Eggermann T, Binder G, Gromoll J, Prott EC, Seland S, Horsthemke B.
    Eur J Hum Genet; 2008 Mar 01; 16(3):328-34. PubMed ID: 18159214
    [Abstract] [Full Text] [Related]

  • 11. Is ZFP57 binding to H19/IGF2:IG-DMR affected in Silver-Russell syndrome?
    Sparago A, Cerrato F, Riccio A.
    Clin Epigenetics; 2018 Mar 01; 10():23. PubMed ID: 29484033
    [Abstract] [Full Text] [Related]

  • 12. A novel IGF2/H19 domain triplication in the 11p15.5 imprinting region causing either Beckwith-Wiedemann or Silver-Russell syndrome in a single family.
    Jurkiewicz D, Kugaudo M, Skórka A, Śmigiel R, Smyk M, Ciara E, Chrzanowska K, Krajewska-Walasek M.
    Am J Med Genet A; 2017 Jan 01; 173(1):72-78. PubMed ID: 27612309
    [Abstract] [Full Text] [Related]

  • 13. A novel de novo point mutation of the OCT-binding site in the IGF2/H19-imprinting control region in a Beckwith-Wiedemann syndrome patient.
    Higashimoto K, Jozaki K, Kosho T, Matsubara K, Fuke T, Yamada D, Yatsuki H, Maeda T, Ohtsuka Y, Nishioka K, Joh K, Koseki H, Ogata T, Soejima H.
    Clin Genet; 2014 Dec 01; 86(6):539-44. PubMed ID: 24299031
    [Abstract] [Full Text] [Related]

  • 14. Humanized H19/Igf2 locus reveals diverged imprinting mechanism between mouse and human and reflects Silver-Russell syndrome phenotypes.
    Hur SK, Freschi A, Ideraabdullah F, Thorvaldsen JL, Luense LJ, Weller AH, Berger SL, Cerrato F, Riccio A, Bartolomei MS.
    Proc Natl Acad Sci U S A; 2016 Sep 27; 113(39):10938-43. PubMed ID: 27621468
    [Abstract] [Full Text] [Related]

  • 15. 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 27; 32(10):1171-82. PubMed ID: 21780245
    [Abstract] [Full Text] [Related]

  • 16. No evidence for mutations of CTCFL/BORIS in Silver-Russell syndrome patients with IGF2/H19 imprinting control region 1 hypomethylation.
    Bernier-Latmani J, Baumer A, Shaw P.
    PLoS One; 2009 Aug 13; 4(8):e6631. PubMed ID: 19675668
    [Abstract] [Full Text] [Related]

  • 17. Rapid detection of methylation change at H19 in human imprinting disorders using methylation-sensitive high-resolution melting.
    Wojdacz TK, Dobrovic A, Algar EM.
    Hum Mutat; 2008 Oct 13; 29(10):1255-60. PubMed ID: 18473334
    [Abstract] [Full Text] [Related]

  • 18. 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 13; 93(4):1402-7. PubMed ID: 18230663
    [Abstract] [Full Text] [Related]

  • 19. Genome-wide methylation analysis in Silver-Russell syndrome patients.
    Prickett AR, Ishida M, Böhm S, Frost JM, Puszyk W, Abu-Amero S, Stanier P, Schulz R, Moore GE, Oakey RJ.
    Hum Genet; 2015 Mar 13; 134(3):317-332. PubMed ID: 25563730
    [Abstract] [Full Text] [Related]

  • 20. Methylation profiling in individuals with Russell-Silver syndrome.
    Peñaherrera MS, Weindler S, Van Allen MI, Yong SL, Metzger DL, McGillivray B, Boerkoel C, Langlois S, Robinson WP.
    Am J Med Genet A; 2010 Feb 13; 152A(2):347-55. PubMed ID: 20082469
    [Abstract] [Full Text] [Related]

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