246 related articles for article (PubMed ID: 22840376)
1. 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]
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. 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. 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]
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. MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome.
Banka S; Howard E; Bunstone S; Chandler KE; Kerr B; Lachlan K; McKee S; Mehta SG; Tavares AL; Tolmie J; Donnai D
Clin Genet; 2013 May; 83(5):467-71. PubMed ID: 22901312
[TBL] [Abstract][Full Text] [Related]
7. 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]
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. 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]
10. 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]
11. 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]
12. 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]
13. 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]
14. 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]
15. Kabuki syndrome revisited.
Bokinni Y
J Hum Genet; 2012 Apr; 57(4):223-7. PubMed ID: 22437206
[TBL] [Abstract][Full Text] [Related]
16. Clinical and molecular spectrum of renal malformations in Kabuki syndrome.
Courcet JB; Faivre L; Michot C; Burguet A; Perez-Martin S; Alix E; Amiel J; Baumann C; Cordier MP; Cormier-Daire V; Delrue MA; Gilbert-Dussardier B; Goldenberg A; Jacquemont ML; Jaquette A; Kayirangwa H; Lacombe D; Le Merrer M; Toutain A; Odent S; Moncla A; Pelet A; Philip N; Pinson L; Poisson S; Kim-Han le QS; Roume J; Sanchez E; Willems M; Till M; Vincent-Delorme C; Mousson C; Vinault S; Binquet C; Huet F; Sarda P; Salomon R; Lyonnet S; Sanlaville D; Geneviève D
J Pediatr; 2013 Sep; 163(3):742-6. PubMed ID: 23535010
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
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. 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]
[Next] [New Search]
