293 related articles for article (PubMed ID: 24664873)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. 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]
9. 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
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. 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]
13. Coinheritance of Novel Mutations in
Kim J; Lee CG
Ann Clin Lab Sci; 2017 Mar; 47(2):229-235. PubMed ID: 28442529
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. Kabuki syndrome: clinical and molecular diagnosis in the first year of life.
Dentici ML; Di Pede A; Lepri FR; Gnazzo M; Lombardi MH; Auriti C; Petrocchi S; Pisaneschi E; Bellacchio E; Capolino R; Braguglia A; Angioni A; Dotta A; Digilio MC; Dallapiccola B
Arch Dis Child; 2015 Feb; 100(2):158-64. PubMed ID: 25281733
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome.
Hannibal MC; Buckingham KJ; Ng SB; Ming JE; Beck AE; McMillin MJ; Gildersleeve HI; Bigham AW; Tabor HK; Mefford HC; Cook J; Yoshiura K; Matsumoto T; Matsumoto N; Miyake N; Tonoki H; Naritomi K; Kaname T; Nagai T; Ohashi H; Kurosawa K; Hou JW; Ohta T; Liang D; Sudo A; Morris CA; Banka S; Black GC; Clayton-Smith J; Nickerson DA; Zackai EH; Shaikh TH; Donnai D; Niikawa N; Shendure J; Bamshad MJ
Am J Med Genet A; 2011 Jul; 155A(7):1511-6. PubMed ID: 21671394
[TBL] [Abstract][Full Text] [Related]
19. 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; 182(10):2333-2344. PubMed ID: 32803813
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
