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Journal Abstract Search

287 related items for PubMed ID: 32427849

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  • 2. 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; 55(3):205-213. PubMed ID: 29223973
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  • 3. Beckwith-Wiedemann and Russell-Silver Syndromes: from new molecular insights to the comprehension of imprinting regulation.
    Azzi S, Abi Habib W, Netchine I.
    Curr Opin Endocrinol Diabetes Obes; 2014 Feb; 21(1):30-8. PubMed ID: 24322424
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  • 4. The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases.
    Chiesa N, De Crescenzo A, Mishra K, Perone L, Carella M, Palumbo O, Mussa A, Sparago A, Cerrato F, Russo S, Lapi E, Cubellis MV, Kanduri C, Cirillo Silengo M, Riccio A, Ferrero GB.
    Hum Mol Genet; 2012 Jan 01; 21(1):10-25. PubMed ID: 21920939
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  • 5. 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
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  • 11. Paternal 132 bp deletion affecting KCNQ1OT1 in 11p15.5 is associated with growth retardation but does not affect imprinting.
    Eggermann T, Kraft F, Lausberg E, Ergezinger K, Kunstmann E.
    J Med Genet; 2021 Mar 01; 58(3):173-176. PubMed ID: 32447323
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  • 12. 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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  • 13. Imprinted disorders and growth.
    Giabicani É, Brioude F, Le Bouc Y, Netchine I.
    Ann Endocrinol (Paris); 2017 Jun 01; 78(2):112-113. PubMed ID: 28478949
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  • 14. 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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  • 15. 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
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  • 18. Epigenetic and genetic alterations of the imprinting disorder Beckwith-Wiedemann syndrome and related disorders.
    Soejima H, Higashimoto K.
    J Hum Genet; 2013 Jul 01; 58(7):402-9. PubMed ID: 23719190
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  • 19. Relaxation of insulin-like growth factor 2 imprinting and discordant methylation at KvDMR1 in two first cousins affected by Beckwith-Wiedemann and Klippel-Trenaunay-Weber syndromes.
    Sperandeo MP, Ungaro P, Vernucci M, Pedone PV, Cerrato F, Perone L, Casola S, Cubellis MV, Bruni CB, Andria G, Sebastio G, Riccio A.
    Am J Hum Genet; 2000 Mar 01; 66(3):841-7. PubMed ID: 10712200
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  • 20. 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
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