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Journal Abstract Search

254 related items for PubMed ID: 22840376

  • 1. Absence of deletion and duplication of MLL2 and KDM6A genes in a large cohort of patients with Kabuki syndrome.
    Priolo M, Micale L, Augello B, Fusco C, Zucchetti F, Prontera P, Paduano V, Biamino E, Selicorni A, Mammì C, Laganà C, Zelante L, Merla G.
    Mol Genet Metab; 2012 Nov; 107(3):627-9. PubMed ID: 22840376
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  • 4. Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2).
    Banka S, Lederer D, Benoit V, Jenkins E, Howard E, Bunstone S, Kerr B, McKee S, Lloyd IC, Shears D, Stewart H, White SM, Savarirayan R, Mancini GM, Beysen D, Cohn RD, Grisart B, Maystadt I, Donnai D.
    Clin Genet; 2015 Mar; 87(3):252-8. PubMed ID: 24527667
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  • 5. 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; 61(6):315-321. PubMed ID: 29307790
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  • 6. MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome.
    Banka S, Howard E, Bunstone S, Chandler KE, Kerr B, Lachlan K, McKee S, Mehta SG, Tavares AL, Tolmie J, Donnai D.
    Clin Genet; 2013 May; 83(5):467-71. PubMed ID: 22901312
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  • 7. 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; 37(9):847-64. PubMed ID: 27302555
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  • 9. 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; 164A(5):1289-92. PubMed ID: 24664873
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  • 13. 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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  • 14. Kabuki syndrome: expanding the phenotype to include microphthalmia and anophthalmia.
    McVeigh TP, Banka S, Reardon W.
    Clin Dysmorphol; 2015 Oct; 24(4):135-9. PubMed ID: 26049589
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  • 15. Kabuki syndrome revisited.
    Bokinni Y.
    J Hum Genet; 2012 Apr; 57(4):223-7. PubMed ID: 22437206
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  • 16. Clinical and molecular spectrum of renal malformations in Kabuki syndrome.
    Courcet JB, Faivre L, Michot C, Burguet A, Perez-Martin S, Alix E, Amiel J, Baumann C, Cordier MP, Cormier-Daire V, Delrue MA, Gilbert-Dussardier B, Goldenberg A, Jacquemont ML, Jaquette A, Kayirangwa H, Lacombe D, Le Merrer M, Toutain A, Odent S, Moncla A, Pelet A, Philip N, Pinson L, Poisson S, Kim-Han le QS, Roume J, Sanchez E, Willems M, Till M, Vincent-Delorme C, Mousson C, Vinault S, Binquet C, Huet F, Sarda P, Salomon R, Lyonnet S, Sanlaville D, Geneviève D.
    J Pediatr; 2013 Sep; 163(3):742-6. PubMed ID: 23535010
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  • 18. 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; 59(6):321-5. PubMed ID: 24739679
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  • 20. 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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