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Journal Abstract Search

226 related items for PubMed ID: 25943194

  • 1. A novel large deletion of the ICR1 region including H19 and putative enhancer elements.
    Fryssira H, Amenta S, Kanber D, Sofocleous C, Lykopoulou E, Kanaka-Gantenbein C, Cerrato F, Lüdecke HJ, Bens S, Riccio A, Buiting K.
    BMC Med Genet; 2015 May 06; 16():30. PubMed ID: 25943194
    [Abstract] [Full Text] [Related]

  • 2. Beckwith-Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1.
    Poole RL, Leith DJ, Docherty LE, Shmela ME, Gicquel C, Splitt M, Temple IK, Mackay DJ.
    Eur J Hum Genet; 2012 Feb 06; 20(2):240-3. PubMed ID: 21863054
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  • 4. Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in Beckwith-Wiedemann syndrome.
    Abi Habib W, Azzi S, Brioude F, Steunou V, Thibaud N, Das Neves C, Le Jule M, Chantot-Bastaraud S, Keren B, Lyonnet S, Michot C, Rossi M, Pasquier L, Gicquel C, Rossignol S, Le Bouc Y, Netchine I.
    Hum Mol Genet; 2014 Nov 01; 23(21):5763-73. PubMed ID: 24916376
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. Novel deletion in 11p15.5 imprinting center region 1 in a patient with Beckwith-Wiedemann syndrome provides insight into distal enhancer regulation and tumorigenesis.
    Bachmann N, Crazzolara R, Bohne F, Kotzot D, Maurer K, Enklaar T, Prawitt D, Bergmann C.
    Pediatr Blood Cancer; 2017 Mar 01; 64(3):. PubMed ID: 27650505
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  • 7. 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
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  • 8. 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 01; 38(1):105-111. PubMed ID: 27701793
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  • 10. 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 01; 52(1):53-60. PubMed ID: 25395389
    [Abstract] [Full Text] [Related]

  • 11. Mechanisms causing imprinting defects in familial Beckwith-Wiedemann syndrome with Wilms' tumour.
    Sparago A, Russo S, Cerrato F, Ferraiuolo S, Castorina P, Selicorni A, Schwienbacher C, Negrini M, Ferrero GB, Silengo MC, Anichini C, Larizza L, Riccio A.
    Hum Mol Genet; 2007 Feb 01; 16(3):254-64. PubMed ID: 17158821
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  • 12. Tissue-specific insulator function at H19/Igf2 revealed by deletions at the imprinting control region.
    Ideraabdullah FY, Thorvaldsen JL, Myers JA, Bartolomei MS.
    Hum Mol Genet; 2014 Dec 01; 23(23):6246-59. PubMed ID: 24990148
    [Abstract] [Full Text] [Related]

  • 13. Is ZFP57 binding to H19/IGF2:IG-DMR affected in Silver-Russell syndrome?
    Sparago A, Cerrato F, Riccio A.
    Clin Epigenetics; 2018 Dec 01; 10():23. PubMed ID: 29484033
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  • 14. Tandem Triplication 11p15.5-ICR1 (H19/IGF2) Detected by Microarray and Optical Genome Mapping in a Prenatal Beckwith-Wiedemann Case.
    Lloveras E, Pérez C, Mendez B, Martin S, Alves C, Reis-Lima M.
    Cytogenet Genome Res; 2023 Dec 01; 163(1-2):32-35. PubMed ID: 37369188
    [Abstract] [Full Text] [Related]

  • 15. Evidence for anticipation in Beckwith-Wiedemann syndrome.
    Berland S, Appelbäck M, Bruland O, Beygo J, Buiting K, Mackay DJ, Karen Temple I, Houge G.
    Eur J Hum Genet; 2013 Dec 01; 21(12):1344-8. PubMed ID: 23572028
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  • 16. Alterations of H19 imprinting and IGF2 replication timing are infrequent in Beckwith-Wiedemann syndrome.
    Squire JA, Li M, Perlikowski S, Fei YL, Bayani J, Zhang ZM, Weksberg R.
    Genomics; 2000 May 01; 65(3):234-42. PubMed ID: 10857747
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  • 17. Imprinting mutation in the Beckwith-Wiedemann syndrome leads to biallelic IGF2 expression through an H19-independent pathway.
    Brown KW, Villar AJ, Bickmore W, Clayton-Smith J, Catchpoole D, Maher ER, Reik W.
    Hum Mol Genet; 1996 Dec 01; 5(12):2027-32. PubMed ID: 8968759
    [Abstract] [Full Text] [Related]

  • 18. Disruption of genomic neighbourhood at the imprinted IGF2-H19 locus in Beckwith-Wiedemann syndrome and Silver-Russell syndrome.
    Nativio R, Sparago A, Ito Y, Weksberg R, Riccio A, Murrell A.
    Hum Mol Genet; 2011 Apr 01; 20(7):1363-74. PubMed ID: 21282187
    [Abstract] [Full Text] [Related]

  • 19. 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]

  • 20. Epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome.
    Engel JR, Smallwood A, Harper A, Higgins MJ, Oshimura M, Reik W, Schofield PN, Maher ER.
    J Med Genet; 2000 Dec 01; 37(12):921-6. PubMed ID: 11106355
    [Abstract] [Full Text] [Related]

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