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.
9. 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]
10. Genetic and behavioral characterization of a Kmt2d mouse mutant, a new model for Kabuki Syndrome. Yamamoto PK; de Souza TA; Antiorio ATFB; Zanatto DA; Garcia-Gomes MSA; Alexandre-Ribeiro SR; Oliveira NS; Menck CFM; Bernardi MM; Massironi SMG; Mori CMC Genes Brain Behav; 2019 Nov; 18(8):e12568. PubMed ID: 30891914 [TBL] [Abstract][Full Text] [Related]
11. Using Xenopus to analyze neurocristopathies like Kabuki syndrome. Schwenty-Lara J; Pauli S; Borchers A Genesis; 2021 Feb; 59(1-2):e23404. PubMed ID: 33351273 [TBL] [Abstract][Full Text] [Related]
12. Loss of function of Kmt2d, a gene mutated in Kabuki syndrome, affects heart development in Xenopus laevis. Schwenty-Lara J; Nürnberger A; Borchers A Dev Dyn; 2019 Jun; 248(6):465-476. PubMed ID: 30980591 [TBL] [Abstract][Full Text] [Related]
13. 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]
14. Interrupted/bipartite clavicle as a diagnostic clue in Kabuki syndrome. Haanpää M; Schlecht H; Batra G; Clayton-Smith J; Douzgou S Am J Med Genet A; 2017 Apr; 173(4):1115-1118. PubMed ID: 28256057 [TBL] [Abstract][Full Text] [Related]
15. 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]
16. Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities. Sobreira N; Brucato M; Zhang L; Ladd-Acosta C; Ongaco C; Romm J; Doheny KF; Mingroni-Netto RC; Bertola D; Kim CA; Perez AB; Melaragno MI; Valle D; Meloni VA; Bjornsson HT Eur J Hum Genet; 2017 Dec; 25(12):1335-1344. PubMed ID: 29255178 [TBL] [Abstract][Full Text] [Related]
17. 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]