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Journal Abstract Search

509 related items for PubMed ID: 27650505

  • 21. Imprinting status of 11p15 genes in Beckwith-Wiedemann syndrome patients with CDKN1C mutations.
    Li M, Squire J, Shuman C, Fei YL, Atkin J, Pauli R, Smith A, Nishikawa J, Chitayat D, Weksberg R.
    Genomics; 2001 Jun 15; 74(3):370-6. PubMed ID: 11414765
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  • 23. Epigenetic and genetic alterations of the imprinting disorder Beckwith-Wiedemann syndrome and related disorders.
    Soejima H, Higashimoto K.
    J Hum Genet; 2013 Jul 15; 58(7):402-9. PubMed ID: 23719190
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  • 26. A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus.
    Zollino M, Orteschi D, Marangi G, De Crescenzo A, Pecile V, Riccio A, Neri G.
    J Med Genet; 2010 Jun 15; 47(6):429-32. PubMed ID: 19843502
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  • 29. Inherited and Sporadic Epimutations at the IGF2-H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumor.
    Riccio A, Sparago A, Verde G, De Crescenzo A, Citro V, Cubellis MV, Ferrero GB, Silengo MC, Russo S, Larizza L, Cerrato F.
    Endocr Dev; 2009 Jun 15; 14():1-9. PubMed ID: 19293570
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  • 30. Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci.
    Azzi S, Rossignol S, Steunou V, Sas T, Thibaud N, Danton F, Le Jule M, Heinrichs C, Cabrol S, Gicquel C, Le Bouc Y, Netchine I.
    Hum Mol Genet; 2009 Dec 15; 18(24):4724-33. PubMed ID: 19755383
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  • 31. The significance of molecular studies in the long-term follow-up of children with beckwith- wiedemann syndrome.
    Gizewska M, Wilk M, Patalan M, Mackay D, Peregud-Pegorzelski J, Gawrych E, Walczak M, Petriczko E, Brodkiewicz A.
    Turk J Pediatr; 2014 Dec 15; 56(2):177-82. PubMed ID: 24911853
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  • 32. Expression of KCNQ1OT1, CDKN1C, H19, and PLAGL1 and the methylation patterns at the KvDMR1 and H19/IGF2 imprinting control regions is conserved between human and bovine.
    Robbins KM, Chen Z, Wells KD, Rivera RM.
    J Biomed Sci; 2012 Nov 15; 19(1):95. PubMed ID: 23153226
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  • 33. Novel familial distal imprinting centre 1 (11p15.5) deletion provides further insights in imprinting regulation.
    Kraft F, Wesseler K, Begemann M, Kurth I, Elbracht M, Eggermann T.
    Clin Epigenetics; 2019 Feb 15; 11(1):30. PubMed ID: 30770769
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  • 34. 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 15; 52(1):53-60. PubMed ID: 25395389
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  • 35. Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences.
    Heide S, Chantot-Bastaraud S, Keren B, Harbison MD, Azzi S, Rossignol S, Michot C, Lackmy-Port Lys M, Demeer B, Heinrichs C, Newfield RS, Sarda P, Van Maldergem L, Trifard V, Giabicani E, Siffroi JP, Le Bouc Y, Netchine I, Brioude F.
    J Med Genet; 2018 Mar 15; 55(3):205-213. PubMed ID: 29223973
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  • 36. (Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome.
    Mussa A, Russo S, De Crescenzo A, Freschi A, Calzari L, Maitz S, Macchiaiolo M, Molinatto C, Baldassarre G, Mariani M, Tarani L, Bedeschi MF, Milani D, Melis D, Bartuli A, Cubellis MV, Selicorni A, Cirillo Silengo M, Larizza L, Riccio A, Ferrero GB.
    Eur J Hum Genet; 2016 Feb 15; 24(2):183-90. PubMed ID: 25898929
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  • 37. 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 15; 5(12):2027-32. PubMed ID: 8968759
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  • 38. An 11p15 imprinting centre region 2 deletion in a family with Beckwith Wiedemann syndrome provides insights into imprinting control at CDKN1C.
    Algar E, Dagar V, Sebaj M, Pachter N.
    PLoS One; 2011 Dec 15; 6(12):e29034. PubMed ID: 22205991
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  • 40. 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 15; 38(1):105-111. PubMed ID: 27701793
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