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Journal Abstract Search

198 related items for PubMed ID: 29283410

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  • 3. Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.
    Micale L, Augello B, Maffeo C, Selicorni A, Zucchetti F, Fusco C, De Nittis P, Pellico MT, Mandriani B, Fischetto R, Boccone L, Silengo M, Biamino E, Perria C, Sotgiu S, Serra G, Lapi E, Neri M, Ferlini A, Cavaliere ML, Chiurazzi P, Monica MD, Scarano G, Faravelli F, Ferrari P, Mazzanti L, Pilotta A, Patricelli MG, Bedeschi MF, Benedicenti F, Prontera P, Toschi B, Salviati L, Melis D, Di Battista E, Vancini A, Garavelli L, Zelante L, Merla G.
    Hum Mutat; 2014 Jul; 35(7):841-50. PubMed ID: 24633898
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  • 4. Expanding the Oro-Dental and Mutational Spectra of Kabuki Syndrome and Expression of KMT2D and KDM6A in Human Tooth Germs.
    Porntaveetus T, Abid MF, Theerapanon T, Srichomthong C, Ohazama A, Kawasaki K, Kawasaki M, Suphapeetiporn K, Sharpe PT, Shotelersuk V.
    Int J Biol Sci; 2018 Jul; 14(4):381-389. PubMed ID: 29725259
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  • 6. Identification of novel KMT2D mutations in two Chinese children with Kabuki syndrome: a case report and systematic literature review.
    Xin C, Wang C, Wang Y, Zhao J, Wang L, Li R, Liu J.
    BMC Med Genet; 2018 Feb 27; 19(1):31. PubMed ID: 29482518
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  • 9. Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.
    Bögershausen N, Gatinois V, Riehmer V, Kayserili H, Becker J, Thoenes M, Simsek-Kiper PÖ, Barat-Houari M, Elcioglu NH, Wieczorek D, Tinschert S, Sarrabay G, Strom TM, Fabre A, Baynam G, Sanchez E, Nürnberg G, Altunoglu U, Capri Y, Isidor B, Lacombe D, Corsini C, Cormier-Daire V, Sanlaville D, Giuliano F, Le Quan Sang KH, Kayirangwa H, Nürnberg P, Meitinger T, Boduroglu K, Zoll B, Lyonnet S, Tzschach A, Verloes A, Di Donato N, Touitou I, Netzer C, Li Y, Geneviève D, Yigit G, Wollnik B.
    Hum Mutat; 2016 Sep 27; 37(9):847-64. PubMed ID: 27302555
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  • 11. Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype.
    Paderova J, Drabova J, Holubova A, Vlckova M, Havlovicova M, Gregorova A, Pourova R, Romankova V, Moslerova V, Geryk J, Norambuena P, Krulisova V, Krepelova A, Macek M, Macek M.
    Eur J Med Genet; 2018 Jun 27; 61(6):315-321. PubMed ID: 29307790
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  • 12. Unraveling molecular pathways shared by Kabuki and Kabuki-like syndromes.
    Lintas C, Persico AM.
    Clin Genet; 2018 Oct 27; 94(3-4):283-295. PubMed ID: 28139835
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  • 14. Neurobehavioral features in individuals with Kabuki syndrome.
    Caciolo C, Alfieri P, Piccini G, Digilio MC, Lepri FR, Tartaglia M, Menghini D, Vicari S.
    Mol Genet Genomic Med; 2018 May 27; 6(3):322-331. PubMed ID: 29536651
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