410 related articles for article (PubMed ID: 30514738)
1. Kabuki syndrome: international consensus diagnostic criteria.
Adam MP; Banka S; Bjornsson HT; Bodamer O; Chudley AE; Harris J; Kawame H; Lanpher BC; Lindsley AW; Merla G; Miyake N; Okamoto N; Stumpel CT; Niikawa N;
J Med Genet; 2019 Feb; 56(2):89-95. PubMed ID: 30514738
[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. 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]
4. 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]
5. 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]
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. 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]
8. 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]
9. 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]
10. 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]
11. 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]
12. Kabuki Syndrome-Clinical Review with Molecular Aspects.
Boniel S; Szymańska K; Śmigiel R; Szczałuba K
Genes (Basel); 2021 Mar; 12(4):. PubMed ID: 33805950
[TBL] [Abstract][Full Text] [Related]
13. [Clinical and laboratory characteristics and genetic diagnosis of Kabuki syndrome].
Wang HM; Wang XH; Wu HS; Wu Y; Zhuo XW
Zhonghua Er Ke Za Zhi; 2018 Nov; 56(11):846-849. PubMed ID: 30392209
[No Abstract] [Full Text] [Related]
14. 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]
15. 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. [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]
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. 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]
19. MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.
Makrythanasis P; van Bon BW; Steehouwer M; Rodríguez-Santiago B; Simpson M; Dias P; Anderlid BM; Arts P; Bhat M; Augello B; Biamino E; Bongers EM; Del Campo M; Cordeiro I; Cueto-González AM; Cuscó I; Deshpande C; Frysira E; Izatt L; Flores R; Galán E; Gener B; Gilissen C; Granneman SM; Hoyer J; Yntema HG; Kets CM; Koolen DA; Marcelis Cl; Medeira A; Micale L; Mohammed S; de Munnik SA; Nordgren A; Psoni S; Reardon W; Revencu N; Roscioli T; Ruiterkamp-Versteeg M; Santos HG; Schoumans J; Schuurs-Hoeijmakers JH; Silengo MC; Toledo L; Vendrell T; van der Burgt I; van Lier B; Zweier C; Reymond A; Trembath RC; Perez-Jurado L; Dupont J; de Vries BB; Brunner HG; Veltman JA; Merla G; Antonarakis SE; Hoischen A
Clin Genet; 2013 Dec; 84(6):539-45. PubMed ID: 23320472
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
