These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
349 related articles for article (PubMed ID: 30459467)
1. A comparative analysis of KMT2D missense variants in Kabuki syndrome, cancers and the general population. Faundes V; Malone G; Newman WG; Banka S J Hum Genet; 2019 Feb; 64(2):161-170. PubMed ID: 30459467 [TBL] [Abstract][Full Text] [Related]
2. 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 [TBL] [Abstract][Full Text] [Related]
3. 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; 731():144360. PubMed ID: 31935506 [TBL] [Abstract][Full Text] [Related]
5. Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life. Luperchio TR; Applegate CD; Bodamer O; Bjornsson HT Mol Genet Genomic Med; 2020 Feb; 8(2):e1072. PubMed ID: 31814321 [TBL] [Abstract][Full Text] [Related]
7. The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significance. Aref-Eshghi E; Schenkel LC; Lin H; Skinner C; Ainsworth P; Paré G; Rodenhiser D; Schwartz C; Sadikovic B Epigenetics; 2017; 12(11):923-933. PubMed ID: 28933623 [TBL] [Abstract][Full Text] [Related]
8. The phenotypic spectrum of Kabuki syndrome in patients of Chinese descent: A case series. Wang Y; Li N; Su Z; Xu Y; Liu S; Chen Y; Li X; Shen Y; Hung C; Wang J; Wang X; Bodamer O Am J Med Genet A; 2020 Apr; 182(4):640-651. PubMed ID: 31883305 [TBL] [Abstract][Full Text] [Related]
9. Kabuki syndrome: novel pathogenic variants, new phenotypes and review of literature. Shangguan H; Su C; Ouyang Q; Cao B; Wang J; Gong C; Chen R Orphanet J Rare Dis; 2019 Nov; 14(1):255. PubMed ID: 31727177 [TBL] [Abstract][Full Text] [Related]
10. [One novel pathologic variation in Qiu SW; Yuan YY Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2019 Sep; 33(9):820-824. PubMed ID: 31446696 [No Abstract] [Full Text] [Related]
12. 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; 24(15):4443-53. PubMed ID: 25972376 [TBL] [Abstract][Full Text] [Related]
13. Burkitt lymphoma in a patient with Kabuki syndrome carrying a novel KMT2D mutation. de Billy E; Strocchio L; Cacchione A; Agolini E; Gnazzo M; Novelli A; De Vito R; Capolino R; Digilio MC; Caruso R; Mastronuzzi A; Locatelli F Am J Med Genet A; 2019 Jan; 179(1):113-117. PubMed ID: 30569626 [TBL] [Abstract][Full Text] [Related]
14. Expanding the Oro-Dental and Mutational Spectra of Kabuki Syndrome and Expression of 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; 14(4):381-389. PubMed ID: 29725259 [TBL] [Abstract][Full Text] [Related]
16. Systemic lupus erythematosus: A new autoimmune disorder in Kabuki syndrome. Arsov T; Sestan M; Cekada N; Frkovic M; Andrews D; He Y; Shen N; Vinuesa CG; Jelusic M Eur J Med Genet; 2019 Jun; 62(6):103538. PubMed ID: 30213761 [TBL] [Abstract][Full Text] [Related]
17. 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 [TBL] [Abstract][Full Text] [Related]
18. Clinical and molecular characterization study of Chinese Kabuki syndrome in Hong Kong. So PL; Luk HM; Yu KPT; Cheng SSW; Hau EWL; Ho SKL; Lam STS; Lo IFM Am J Med Genet A; 2021 Mar; 185(3):675-686. PubMed ID: 33314698 [TBL] [Abstract][Full Text] [Related]
19. Neuroimaging in Kabuki syndrome and another KMT2D-related disorder. Stadelmaier RT; Kenna MA; Barrett D; Mullen TE; Bodamer O; Agrawal PB; Robson CD; Wojcik MH Am J Med Genet A; 2021 Dec; 185(12):3770-3783. PubMed ID: 34369642 [TBL] [Abstract][Full Text] [Related]
20. 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; 19(1):31. PubMed ID: 29482518 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]