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Journal Abstract Search

91 related items for PubMed ID: 10874328

  • 1. Identification of two new polymorphisms (c2447-125A>G; c2532G>A) in the gamma 2-COP (COPG2) gene by screening of Silver-Russell syndrome patients.
    Mergenthaler S, Blagitko-Dorfs N, Wollmann HA, Ranke MB, Ropers HH, Kalscheuer VM, Eggermann T.
    Hum Mutat; 2000 Jul; 16(1):96. PubMed ID: 10874328
    [No Abstract] [Full Text] [Related]

  • 2. Silver-Russell syndrome and its genetic origins.
    Rossignol S.
    J Endocrinol Invest; 2006 Jul; 29(1 Suppl):9-10. PubMed ID: 16615300
    [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; 123(5):e929-31. PubMed ID: 19364767
    [Abstract] [Full Text] [Related]

  • 4. Autosomal dominant Russell-Silver syndrome.
    Al-Fifi S, Teebi AS, Shevell M.
    Am J Med Genet; 1996 Jan 02; 61(1):96-7. PubMed ID: 8741931
    [No Abstract] [Full Text] [Related]

  • 5. 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 02; 36(6):457-60. PubMed ID: 10874633
    [Abstract] [Full Text] [Related]

  • 6. New syndrome: familial proportionate short stature, intrauterine growth retardation, and recurrent locking of the fingers.
    Eng CE, Strom CM.
    Am J Med Genet; 1987 Jan 02; 26(1):217-20. PubMed ID: 3812565
    [No Abstract] [Full Text] [Related]

  • 7. Quantification of GRB10 in 7p12-p14 by fluorogenic 5' nuclease chemistry and application for genetic diagnosis in Silver-Russell syndrome.
    Eggermann T, Meyer E, Wollmann HA.
    Ann Genet; 2004 Jan 02; 47(1):99-102. PubMed ID: 15050880
    [No Abstract] [Full Text] [Related]

  • 8. [Russell-Silver syndrome].
    Kosaki K, Izumi K, Hasegawa T.
    Nihon Rinsho; 2006 Sep 28; Suppl 3():436-9. PubMed ID: 17022582
    [No Abstract] [Full Text] [Related]

  • 9. Maternal repression of the human GRB10 gene in the developing central nervous system; evaluation of the role for GRB10 in Silver-Russell syndrome.
    Hitchins MP, Monk D, Bell GM, Ali Z, Preece MA, Stanier P, Moore GE.
    Eur J Hum Genet; 2001 Feb 28; 9(2):82-90. PubMed ID: 11313740
    [Abstract] [Full Text] [Related]

  • 10. 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 28; 73(1):79-84. PubMed ID: 18070127
    [Abstract] [Full Text] [Related]

  • 11. Characterization of genomic variants in CSH1 and GH2, two candidate genes for Silver-Russell syndrome in 17q24-q25.
    Prager S, Wollmann HA, Mergenthaler S, Mavany M, Eggermann K, Ranke MB, Eggermann T.
    Genet Test; 2003 Jan 28; 7(3):259-63. PubMed ID: 14642004
    [Abstract] [Full Text] [Related]

  • 12. Silver-Russell syndrome and exclusion of uniparental disomy.
    Ayala-Madrigal ML, Shaffer LG, Ramírez-Dueñas ML.
    Clin Genet; 1996 Dec 28; 50(6):494-7. PubMed ID: 9147881
    [Abstract] [Full Text] [Related]

  • 13. Mutation analysis of GNAS1 and overlapping transcripts in Silver-Russell syndrome patients.
    Eggermann T, Meyer E, Schönherr N, Flick F, Chauvistré H, Mavany M, Wollmann HA.
    Mol Genet Metab; 2007 Feb 28; 90(2):224-6. PubMed ID: 17056291
    [No Abstract] [Full Text] [Related]

  • 14. Epigenetics in Silver-Russell syndrome.
    Rossignol S, Netchine I, Le Bouc Y, Gicquel C.
    Best Pract Res Clin Endocrinol Metab; 2008 Jun 28; 22(3):403-14. PubMed ID: 18538282
    [Abstract] [Full Text] [Related]

  • 15. (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 Jun 28; 49(5):414-8. PubMed ID: 16603426
    [Abstract] [Full Text] [Related]

  • 16. Genomic structure of karyopherin alpha2 ( KPNA2) within a low-copy repeat on chromosome 17q23-q24 and mutation analysis in patients with Russell-Silver syndrome.
    Dörr SN, Schlicker MN, Hansmann IN.
    Hum Genet; 2001 Nov 28; 109(5):479-86. PubMed ID: 11735022
    [Abstract] [Full Text] [Related]

  • 17. 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 28; 42(5):e26. PubMed ID: 15863658
    [Abstract] [Full Text] [Related]

  • 18. Biallelic expression of IGFBP1 and IGFBP3, two candidate genes for the Silver-Russell syndrome.
    Wakeling EL, Hitchins MP, Abu-Amero SN, Stanier P, Moore GE, Preece MA.
    J Med Genet; 2000 Jan 28; 37(1):65-7. PubMed ID: 10691413
    [No Abstract] [Full Text] [Related]

  • 19. Construction of a detailed physical and transcript map of the candidate region for Russell-Silver syndrome on chromosome 17q23-q24.
    Dörr S, Midro AT, Färber C, Giannakudis J, Hansmann I.
    Genomics; 2001 Jan 15; 71(2):174-81. PubMed ID: 11161811
    [Abstract] [Full Text] [Related]

  • 20. Growth retardation versus overgrowth: Silver-Russell syndrome is genetically opposite to Beckwith-Wiedemann syndrome.
    Eggermann T, Eggermann K, Schönherr N.
    Trends Genet; 2008 Apr 15; 24(4):195-204. PubMed ID: 18329128
    [Abstract] [Full Text] [Related]

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