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240 related items for PubMed ID: 10564876

  • 1. Clinical and molecular findings in two patients with russell-silver syndrome and UPD7: comparison with non-UPD7 cases.
    Bernard LE, Peñaherrera MS, Van Allen MI, Wang MS, Yong SL, Gareis F, Langlois S, Robinson WP.
    Am J Med Genet; 1999 Nov 26; 87(3):230-6. PubMed ID: 10564876
    [Abstract] [Full Text] [Related]

  • 2. [Uniparental disomy 7 in the pathogenesis of Silver-Russell syndrome].
    Mergenthaler S, Dobos M, Wollmann H, Eggermann K, Schwanitz G, Eggermann T.
    Orv Hetil; 2001 Jul 22; 142(29):1561-4. PubMed ID: 11494748
    [Abstract] [Full Text] [Related]

  • 3. 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 22; 123(5):e929-31. PubMed ID: 19364767
    [Abstract] [Full Text] [Related]

  • 4. Clinical outcome and follow-up of the first reported case of Russell-Silver syndrome with the unique combination of maternal uniparental heterodisomy 7 and mosaic trisomy 7.
    Font-Montgomery E, Stone KM, Weaver DD, Vance GH, Das S, Thurston VC.
    Birth Defects Res A Clin Mol Teratol; 2005 Aug 22; 73(8):577-82. PubMed ID: 16007591
    [Abstract] [Full Text] [Related]

  • 5. Maternal uniparental disomy 7 and Silver-Russell syndrome - clinical update and comparison with other subgroups.
    Kotzot D.
    Eur J Med Genet; 2008 Aug 22; 51(5):444-51. PubMed ID: 18655849
    [Abstract] [Full Text] [Related]

  • 6. Russell-Silver syndrome.
    Eggermann T.
    Am J Med Genet C Semin Med Genet; 2010 Aug 15; 154C(3):355-64. PubMed ID: 20803658
    [Abstract] [Full Text] [Related]

  • 7. 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 15; 92(8):3148-54. PubMed ID: 17504900
    [Abstract] [Full Text] [Related]

  • 8. A multiplex methylation PCR assay for identification of uniparental disomy of chromosome 7.
    Moore MW, Dietz LG, Tirtorahardjo B, Cotter PD.
    Hum Mutat; 2003 Jun 15; 21(6):645-8. PubMed ID: 12754712
    [Abstract] [Full Text] [Related]

  • 9. Molecular genetic studies of human chromosome 7 in Russell-Silver syndrome.
    Nakabayashi K, Fernandez BA, Teshima I, Shuman C, Proud VK, Curry CJ, Chitayat D, Grebe T, Ming J, Oshimura M, Meguro M, Mitsuya K, Deb-Rinker P, Herbrick JA, Weksberg R, Scherer SW.
    Genomics; 2002 Feb 15; 79(2):186-96. PubMed ID: 11829489
    [Abstract] [Full Text] [Related]

  • 10. No evidence for isolated imprinting mutations in the PEG1/MEST locus in Silver-Russell patients.
    Schöherr N, Jäger S, Ranke MB, Wollmann HA, Binder G, Eggermann T.
    Eur J Med Genet; 2008 Feb 15; 51(4):322-4. PubMed ID: 18585117
    [Abstract] [Full Text] [Related]

  • 11. Biparental expression of IGFBP1 and IGFBP3 renders their involvement in the etiology of Silver-Russell syndrome unlikely.
    Eggermann K, Wollmann HA, Binder G, Kaiser P, Ranke MB, Eggermann T.
    Ann Genet; 1999 Feb 15; 42(2):117-21. PubMed ID: 10434128
    [Abstract] [Full Text] [Related]

  • 12. An analysis of the distribution of hetero- and isodisomic regions of chromosome 7 in five mUPD7 Silver-Russell syndrome probands.
    Preece MA, Abu-Amero SN, Ali Z, Abu-Amero KK, Wakeling EL, Stanier P, Moore GE.
    J Med Genet; 1999 Jun 15; 36(6):457-60. PubMed ID: 10874633
    [Abstract] [Full Text] [Related]

  • 13. Use of multiplex ligation-dependent probe amplification increases the detection rate for 11p15 epigenetic alterations in Silver-Russell syndrome.
    Eggermann T, Schönherr N, Eggermann K, Buiting K, Ranke MB, Wollmann HA, Binder G.
    Clin Genet; 2008 Jan 15; 73(1):79-84. PubMed ID: 18070127
    [Abstract] [Full Text] [Related]

  • 14. 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 15; 93(4):1402-7. PubMed ID: 18230663
    [Abstract] [Full Text] [Related]

  • 15. Segmental maternal UPD(7q) in Silver-Russell syndrome.
    Eggermann T, Schönherr N, Jäger S, Spaich C, Ranke MB, Wollmann HA, Binder G.
    Clin Genet; 2008 Nov 15; 74(5):486-9. PubMed ID: 18700897
    [No Abstract] [Full Text] [Related]

  • 16. The genetic aetiology of Silver-Russell syndrome.
    Abu-Amero S, Monk D, Frost J, Preece M, Stanier P, Moore GE.
    J Med Genet; 2008 Apr 15; 45(4):193-9. PubMed ID: 18156438
    [Abstract] [Full Text] [Related]

  • 17. Epigenetics in Silver-Russell syndrome.
    Rossignol S, Netchine I, Le Bouc Y, Gicquel C.
    Best Pract Res Clin Endocrinol Metab; 2008 Jun 15; 22(3):403-14. PubMed ID: 18538282
    [Abstract] [Full Text] [Related]

  • 18. Silver-Russell syndrome and its genetic origins.
    Rossignol S.
    J Endocrinol Invest; 2006 Jun 15; 29(1 Suppl):9-10. PubMed ID: 16615300
    [Abstract] [Full Text] [Related]

  • 19. Gastrointestinal complications of Russell-Silver syndrome: a pilot study.
    Anderson J, Viskochil D, O'Gorman M, Gonzales C.
    Am J Med Genet; 2002 Nov 15; 113(1):15-9. PubMed ID: 12400060
    [Abstract] [Full Text] [Related]

  • 20. The contribution of uniparental disomy to congenital development defects in children born to mothers at advanced childbearing age.
    Ginsburg C, Fokstuen S, Schinzel A.
    Am J Med Genet; 2000 Dec 18; 95(5):454-60. PubMed ID: 11146466
    [Abstract] [Full Text] [Related]

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