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Journal Abstract Search

310 related items for PubMed ID: 28635951

  • 1. New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndrome.
    Beygo J, Küchler A, Gillessen-Kaesbach G, Albrecht B, Eckle J, Eggermann T, Gellhaus A, Kanber D, Kordaß U, Lüdecke HJ, Purmann S, Rossier E, van de Nes J, van der Werf IM, Wenzel M, Wieczorek D, Horsthemke B, Buiting K.
    Eur J Hum Genet; 2017 Aug; 25(8):935-945. PubMed ID: 28635951
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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. 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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  • 4. Temple syndrome in a patient with variably methylated CpGs at the primary MEG3/DLK1:IG-DMR and severely hypomethylated CpGs at the secondary MEG3:TSS-DMR.
    Kagami M, Yanagisawa A, Ota M, Matsuoka K, Nakamura A, Matsubara K, Nakabayashi K, Takada S, Fukami M, Ogata T.
    Clin Epigenetics; 2019 Mar 07; 11(1):42. PubMed ID: 30846001
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  • 6. Kagami-Ogata syndrome: a clinically recognizable upd(14)pat and related disorder affecting the chromosome 14q32.2 imprinted region.
    Ogata T, Kagami M.
    J Hum Genet; 2016 Feb 07; 61(2):87-94. PubMed ID: 26377239
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  • 8. Maternally inherited deletion encompassing the RTL1as and MEG8 genes of the human 14q32 imprinted region in a patient with a mild Kagami-Ogata syndrome phenotype.
    Sirera Sirera P, García-Payá E, Olivas García J, Jadraque Rodríguez R, Hernández Romero SD.
    Am J Med Genet A; 2023 Aug 07; 191(8):2225-2231. PubMed ID: 37222159
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  • 9. 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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  • 10. Molecular characterization of temple syndrome families with 14q32 epimutations.
    Brück J, Begemann M, Dey D, Elbracht M, Eggermann T.
    Eur J Med Genet; 2020 Dec 07; 63(12):104077. PubMed ID: 33010492
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  • 11. 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 07; 23(8):1062-7. PubMed ID: 25351781
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  • 16. 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 07; 152A(8):1942-50. PubMed ID: 20602488
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  • 17. Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome.
    Geoffron S, Abi Habib W, Chantot-Bastaraud S, Dubern B, Steunou V, Azzi S, Afenjar A, Busa T, Pinheiro Canton A, Chalouhi C, Dufourg MN, Esteva B, Fradin M, Geneviève D, Heide S, Isidor B, Linglart A, Morice Picard F, Naud-Saudreau C, Oliver Petit I, Philip N, Pienkowski C, Rio M, Rossignol S, Tauber M, Thevenon J, Vu-Hong TA, Harbison MD, Salem J, Brioude F, Netchine I, Giabicani E.
    J Clin Endocrinol Metab; 2018 Jul 01; 103(7):2436-2446. PubMed ID: 29659920
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  • 18. Deletion of Meg8-DMR Enhances Migration and Invasion of MLTC-1 Depending on the CTCF Binding Sites.
    Han X, He H, Shao L, Cui S, Yu H, Zhang X, Wu Q.
    Int J Mol Sci; 2022 Aug 08; 23(15):. PubMed ID: 35955961
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  • 19. ZNF445: a homozygous truncating variant in a patient with Temple syndrome and multilocus imprinting disturbance.
    Kagami M, Hara-Isono K, Matsubara K, Nakabayashi K, Narumi S, Fukami M, Ohkubo Y, Saitsu H, Takada S, Ogata T.
    Clin Epigenetics; 2021 May 26; 13(1):119. PubMed ID: 34039421
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  • 20. Meg3-DMR, not the Meg3 gene, regulates imprinting of the Dlk1-Dio3 locus.
    Zhu W, Botticelli EM, Kery RE, Mao Y, Wang X, Yang A, Wang X, Zhou J, Zhang X, Soberman RJ, Klibanski A, Zhou Y.
    Dev Biol; 2019 Nov 01; 455(1):10-18. PubMed ID: 31301299
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