232 related articles for article (PubMed ID: 27028180)
1. De novo exonic deletion of KDM6A in a Chinese girl with Kabuki syndrome: A case report and brief literature review.
Yang P; Tan H; Xia Y; Yu Q; Wei X; Guo R; Peng Y; Chen C; Li H; Mei L; Huang Y; Liang D; Wu L
Am J Med Genet A; 2016 Jun; 170(6):1613-21. PubMed ID: 27028180
[TBL] [Abstract][Full Text] [Related]
2. 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
[TBL] [Abstract][Full Text] [Related]
3. 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
[TBL] [Abstract][Full Text] [Related]
4. MLL2 and KDM6A mutations in patients with Kabuki syndrome.
Miyake N; Koshimizu E; Okamoto N; Mizuno S; Ogata T; Nagai T; Kosho T; Ohashi H; Kato M; Sasaki G; Mabe H; Watanabe Y; Yoshino M; Matsuishi T; Takanashi J; Shotelersuk V; Tekin M; Ochi N; Kubota M; Ito N; Ihara K; Hara T; Tonoki H; Ohta T; Saito K; Matsuo M; Urano M; Enokizono T; Sato A; Tanaka H; Ogawa A; Fujita T; Hiraki Y; Kitanaka S; Matsubara Y; Makita T; Taguri M; Nakashima M; Tsurusaki Y; Saitsu H; Yoshiura K; Matsumoto N; Niikawa N
Am J Med Genet A; 2013 Sep; 161A(9):2234-43. PubMed ID: 23913813
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome.
Lederer D; Grisart B; Digilio MC; Benoit V; Crespin M; Ghariani SC; Maystadt I; Dallapiccola B; Verellen-Dumoulin C
Am J Hum Genet; 2012 Jan; 90(1):119-24. PubMed ID: 22197486
[TBL] [Abstract][Full Text] [Related]
9. De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome.
Tunovic S; Barkovich J; Sherr EH; Slavotinek AM
Am J Med Genet A; 2014 Jul; 164A(7):1744-9. PubMed ID: 24838796
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring.
Paděrová J; Holubová A; Simandlová M; Puchmajerová A; Vlčková M; Malíková M; Pourová R; Vejvalková S; Havlovicová M; Šenkeříková M; Ptáková N; Drábová J; Geryk J; Maver A; Křepelová A; Macek M
Clin Genet; 2016 Sep; 90(3):230-7. PubMed ID: 26841933
[TBL] [Abstract][Full Text] [Related]
12. Novel KDM6A splice-site mutation in kabuki syndrome with congenital hydrocephalus: a case report.
Guo Z; Liu F; Li HJ
BMC Med Genet; 2018 Dec; 19(1):206. PubMed ID: 30509212
[TBL] [Abstract][Full Text] [Related]
13. KDM6A point mutations cause Kabuki syndrome.
Miyake N; Mizuno S; Okamoto N; Ohashi H; Shiina M; Ogata K; Tsurusaki Y; Nakashima M; Saitsu H; Niikawa N; Matsumoto N
Hum Mutat; 2013 Jan; 34(1):108-10. PubMed ID: 23076834
[TBL] [Abstract][Full Text] [Related]
14. Kabuki syndrome as a cause of non-immune fetal hydrops/ascites.
Long A; Sinkovskaya ES; Edmondson AC; Zackai E; Schrier Vergano SA
Am J Med Genet A; 2016 Dec; 170(12):3333-3337. PubMed ID: 27568880
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. 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
[TBL] [Abstract][Full Text] [Related]
18. Unraveling molecular pathways shared by Kabuki and Kabuki-like syndromes.
Lintas C; Persico AM
Clin Genet; 2018 Oct; 94(3-4):283-295. PubMed ID: 28139835
[TBL] [Abstract][Full Text] [Related]
19. Prenatal and perinatal history in Kabuki Syndrome.
Rosenberg CE; Daly T; Hung C; Hsueh I; Lindsley AW; Bodamer O
Am J Med Genet A; 2020 Jan; 182(1):85-92. PubMed ID: 31654559
[TBL] [Abstract][Full Text] [Related]
20. 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
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]