449 related articles for article (PubMed ID: 28884922)
1. Congenital heart defects in molecularly proven Kabuki syndrome patients.
Digilio MC; Gnazzo M; Lepri F; Dentici ML; Pisaneschi E; Baban A; Passarelli C; Capolino R; Angioni A; Novelli A; Marino B; Dallapiccola B
Am J Med Genet A; 2017 Nov; 173(11):2912-2922. PubMed ID: 28884922
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. Recurrent giant cell fibroblastoma: Malignancy predisposition in Kabuki syndrome revisited.
Karagianni P; Lambropoulos V; Stergidou D; Fryssira H; Chatziioannidis I; Spyridakis I
Am J Med Genet A; 2016 May; 170A(5):1333-8. PubMed ID: 26898171
[TBL] [Abstract][Full Text] [Related]
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
[TBL] [Abstract][Full Text] [Related]
6. Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals.
Yap KL; Johnson AEK; Fischer D; Kandikatla P; Deml J; Nelakuditi V; Halbach S; Jeha GS; Burrage LC; Bodamer O; Benavides VC; Lewis AM; Ellard S; Shah P; Cody D; Diaz A; Devarajan A; Truong L; Greeley SAW; De Leó-Crutchlow DD; Edmondson AC; Das S; Thornton P; Waggoner D; Del Gaudio D
Genet Med; 2019 Jan; 21(1):233-242. PubMed ID: 29907798
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Autism spectrum disorder in Kabuki syndrome: clinical, diagnostic and rehabilitative aspects assessed through the presentation of three cases.
Parisi L; Di Filippo T; Roccella M
Minerva Pediatr; 2015 Aug; 67(4):369-75. PubMed ID: 26129805
[TBL] [Abstract][Full Text] [Related]
9. 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]
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. 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]
12. 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]
13. 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]
14. 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]
15. 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]
16. 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]
17. Illuminating the Genetic Basis of Congenital Heart Disease in Patients with Kabuki Syndrome.
Lee CL; Chuang CK; Chen MR; Lin JL; Chiu HC; Chang YH; Tu YR; Lo YT; Lin HY; Lin SP
Diagnostics (Basel); 2024 Apr; 14(8):. PubMed ID: 38667491
[TBL] [Abstract][Full Text] [Related]
18. Neurobehavioral features in individuals with Kabuki syndrome.
Caciolo C; Alfieri P; Piccini G; Digilio MC; Lepri FR; Tartaglia M; Menghini D; Vicari S
Mol Genet Genomic Med; 2018 May; 6(3):322-331. PubMed ID: 29536651
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature.
Lepri FR; Cocciadiferro D; Augello B; Alfieri P; Pes V; Vancini A; Caciolo C; Squeo GM; Malerba N; Adipietro I; Novelli A; Sotgiu S; Gherardi R; Digilio MC; Dallapiccola B; Merla G
Int J Mol Sci; 2017 Dec; 19(1):. PubMed ID: 29283410
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
