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Journal Abstract Search

182 related items for PubMed ID: 32447323

  • 1. 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; 58(3):173-176. PubMed ID: 32447323
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  • 2. Unusual deletion of the maternal 11p15 allele in Beckwith-Wiedemann syndrome with an impact on both imprinting domains.
    Eggermann T, Begemann M, Pfeiffer L.
    Clin Epigenetics; 2021 Feb 04; 13(1):30. PubMed ID: 33541417
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  • 4. Heterogeneous phenotypes in families with duplications of the paternal allele within the imprinting center 1 (H19/IGF2:TSS-DMR) in 11p15.5.
    Eggermann T, Kraft F, Kloth K, Klopocki E, Hüning I, Hempel M, Kunstmann E.
    Clin Genet; 2020 Oct 04; 98(4):418-419. PubMed ID: 33294970
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  • 6. 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 04; 55(3):205-213. PubMed ID: 29223973
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  • 7. Beckwith-Wiedemann syndrome with long QT caused by a deletion involving KCNQ1 but not KCNQ1OT1:TSS-DMR.
    Urakawa T, Ozawa J, Tanaka M, Narusawa H, Matsuoka K, Fukami M, Nagasaki K, Kagami M.
    Eur J Med Genet; 2023 Jan 04; 66(1):104671. PubMed ID: 36402267
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  • 9. High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith-Wiedemann syndrome.
    Baskin B, Choufani S, Chen YA, Shuman C, Parkinson N, Lemyre E, Micheil Innes A, Stavropoulos DJ, Ray PN, Weksberg R.
    Hum Genet; 2014 Mar 04; 133(3):321-30. PubMed ID: 24154661
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  • 12. 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 Mar 04; 6(12):e29034. PubMed ID: 22205991
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  • 14. Sequence variants identification at the KCNQ1OT1:TSS differentially Methylated region in isolated omphalocele cases.
    Bedeschi MF, Calvello M, Paganini L, Pezzani L, Baccarin M, Fontana L, Sirchia SM, Guerneri S, Canazza L, Leva E, Colombo L, Lalatta F, Mosca F, Tabano S, Miozzo M.
    BMC Med Genet; 2017 Oct 18; 18(1):115. PubMed ID: 29047350
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  • 15. 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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  • 17. New insights into the pathogenesis of Beckwith-Wiedemann and Silver-Russell syndromes: contribution of small copy number variations to 11p15 imprinting defects.
    Demars J, Rossignol S, Netchine I, Lee KS, Shmela M, Faivre L, Weill J, Odent S, Azzi S, Callier P, Lucas J, Dubourg C, Andrieux J, Le Bouc Y, El-Osta A, Gicquel C.
    Hum Mutat; 2011 Oct 01; 32(10):1171-82. PubMed ID: 21780245
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  • 20. 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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