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Journal Abstract Search

195 related items for PubMed ID: 20602488

  • 1. Segmental paternal uniparental disomy (patUPD) of 14q32 with abnormal methylation elicits the characteristic features of complete patUPD14.
    Irving MD, Buiting K, Kanber D, Donaghue C, Schulz R, Offiah A, Mohammed SN, Oakey RJ.
    Am J Med Genet A; 2010 Aug; 152A(8):1942-50. PubMed ID: 20602488
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  • 2. Paternal uniparental disomy chromosome 14-like syndrome due a maternal de novo 160 kb deletion at the 14q32.2 region not encompassing the IG- and the MEG3-DMRs: Patient report and genotype-phenotype correlation.
    Corsello G, Salzano E, Vecchio D, Antona V, Grasso M, Malacarne M, Carella M, Palumbo P, Piro E, Giuffrè M.
    Am J Med Genet A; 2015 Dec; 167A(12):3130-8. PubMed ID: 26333487
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  • 3. Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes.
    Kagami M, Sekita Y, Nishimura G, Irie M, Kato F, Okada M, Yamamori S, Kishimoto H, Nakayama M, Tanaka Y, Matsuoka K, Takahashi T, Noguchi M, Tanaka Y, Masumoto K, Utsunomiya T, Kouzan H, Komatsu Y, Ohashi H, Kurosawa K, Kosaki K, Ferguson-Smith AC, Ishino F, Ogata T.
    Nat Genet; 2008 Feb; 40(2):237-42. PubMed ID: 18176563
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  • 4. Molecular mechanisms regulating phenotypic outcome in paternal and maternal uniparental disomy for chromosome 14.
    Ogata T, Kagami M, Ferguson-Smith AC.
    Epigenetics; 2008 Feb; 3(4):181-7. PubMed ID: 18698157
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  • 9. Epimutations of the IG-DMR and the MEG3-DMR at the 14q32.2 imprinted region in two patients with Silver-Russell Syndrome-compatible phenotype.
    Kagami M, Mizuno S, Matsubara K, Nakabayashi K, Sano S, Fuke T, Fukami M, Ogata T.
    Eur J Hum Genet; 2015 Aug; 23(8):1062-7. PubMed ID: 25351781
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  • 10. Novel 14q32.2 paternal deletion encompassing the whole DLK1 gene associated with Temple syndrome.
    Baena N, Monk D, Aguilera C, Fraga MF, Fernández AF, Gabau E, Corripio R, Capdevila N, Trujillo JP, Ruiz A, Guitart M.
    Clin Epigenetics; 2024 May 07; 16(1):62. PubMed ID: 38715103
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  • 11. Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32.
    Beygo J, Elbracht M, de Groot K, Begemann M, Kanber D, Platzer K, Gillessen-Kaesbach G, Vierzig A, Green A, Heller R, Buiting K, Eggermann T.
    Eur J Hum Genet; 2015 Feb 07; 23(2):180-8. PubMed ID: 24801763
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  • 12. Segmental maternal uniparental disomy 7q associated with DLK1/GTL2 (14q32) hypomethylation.
    Begemann M, Spengler S, Kordass U, Schröder C, Eggermann T.
    Am J Med Genet A; 2012 Feb 07; 158A(2):423-8. PubMed ID: 22246686
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  • 13. Molecular mechanisms leading to the phenotypic development in paternal and maternal uniparental disomy for chromosome 14.
    Ogata T, Kagami M.
    Clin Pediatr Endocrinol; 2008 Feb 07; 17(4):103-11. PubMed ID: 24790371
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  • 16. Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprinted DLK1/GTL2 gene cluster.
    Buiting K, Kanber D, Martín-Subero JI, Lieb W, Terhal P, Albrecht B, Purmann S, Gross S, Lich C, Siebert R, Horsthemke B, Gillessen-Kaesbach G.
    Hum Mutat; 2008 Sep 07; 29(9):1141-6. PubMed ID: 18454453
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