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Journal Abstract Search

501 related items for PubMed ID: 29307790

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  • 10. Recurrent giant cell fibroblastoma: Malignancy predisposition in Kabuki syndrome revisited.
    Karagianni P, Lambropoulos V, Stergidou D, Fryssira H, Chatziioannidis I, Spyridakis I.
    Am J Med Genet A; 2016 May; 170A(5):1333-8. PubMed ID: 26898171
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  • 11. Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development.
    Van Laarhoven PM, Neitzel LR, Quintana AM, Geiger EA, Zackai EH, Clouthier DE, Artinger KB, Ming JE, Shaikh TH.
    Hum Mol Genet; 2015 Aug 01; 24(15):4443-53. PubMed ID: 25972376
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  • 12. Identification of KMT2D and KDM6A variants by targeted sequencing from patients with Kabuki syndrome and other congenital disorders.
    Yap CS, Jamuar SS, Lai AHM, Tan ES, Ng I, Ting TW, Tan EC.
    Gene; 2020 Mar 20; 731():144360. PubMed ID: 31935506
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  • 13. Congenital heart defects in molecularly proven Kabuki syndrome patients.
    Digilio MC, Gnazzo M, Lepri F, Dentici ML, Pisaneschi E, Baban A, Passarelli C, Capolino R, Angioni A, Novelli A, Marino B, Dallapiccola B.
    Am J Med Genet A; 2017 Nov 20; 173(11):2912-2922. PubMed ID: 28884922
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  • 15. 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 Nov 20; 14(4):381-389. PubMed ID: 29725259
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  • 16. Holoprosencephaly in Kabuki syndrome.
    Daly T, Roberts A, Yang E, Mochida GH, Bodamer O.
    Am J Med Genet A; 2020 Mar 20; 182(3):441-445. PubMed ID: 31846209
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  • 17. Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome.
    Murakami H, Tsurusaki Y, Enomoto K, Kuroda Y, Yokoi T, Furuya N, Yoshihashi H, Minatogawa M, Abe-Hatano C, Ohashi I, Nishimura N, Kumaki T, Enomoto Y, Naruto T, Iwasaki F, Harada N, Ishikawa A, Kawame H, Sameshima K, Yamaguchi Y, Kobayashi M, Tominaga M, Ishikiriyama S, Tanaka T, Suzumura H, Ninomiya S, Kondo A, Kaname T, Kosaki K, Masuno M, Kuroki Y, Kurosawa K.
    Am J Med Genet A; 2020 Oct 20; 182(10):2333-2344. PubMed ID: 32803813
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  • 18. Investigation of genetic and phenotypic heterogeneity in 37 Turkish patients with Kabuki and Kabuki-like phenotype.
    Usluer E, Sayın GY, Güneş N, Kasap B, Tüysüz B.
    Am J Med Genet A; 2022 Oct 20; 188(10):2976-2987. PubMed ID: 36097644
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  • 19. A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A.
    Lederer D, Shears D, Benoit V, Verellen-Dumoulin C, Maystadt I.
    Am J Med Genet A; 2014 May 20; 164A(5):1289-92. PubMed ID: 24664873
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  • 20. Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome.
    Cheon CK, Sohn YB, Ko JM, Lee YJ, Song JS, Moon JW, Yang BK, Ha IS, Bae EJ, Jin HS, Jeong SY.
    J Hum Genet; 2014 Jun 20; 59(6):321-5. PubMed ID: 24739679
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