194 related articles for article (PubMed ID: 33258286)
1. Could the MED13 mutations manifest as a Kabuki-like syndrome?
De Nardi L; Faletra F; D'Adamo AP; Bianco AMR; Athanasakis E; Bruno I; Barbi E
Am J Med Genet A; 2021 Feb; 185(2):584-590. PubMed ID: 33258286
[TBL] [Abstract][Full Text] [Related]
2. Kabuki syndrome with midgut malrotation and hyperinsulinemic hypoglycemia: A rare co-occurrence from Thailand.
Phetthong T; Tim-Aroon T; Khongkrapan A; Poomthavorn P; Wattanasirichaigoon D
Am J Med Genet A; 2020 Aug; 182(8):1873-1876. PubMed ID: 32525229
[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. Holoprosencephaly in Kabuki syndrome.
Daly T; Roberts A; Yang E; Mochida GH; Bodamer O
Am J Med Genet A; 2020 Mar; 182(3):441-445. PubMed ID: 31846209
[TBL] [Abstract][Full Text] [Related]
5. De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.
Snijders Blok L; Hiatt SM; Bowling KM; Prokop JW; Engel KL; Cochran JN; Bebin EM; Bijlsma EK; Ruivenkamp CAL; Terhal P; Simon MEH; Smith R; Hurst JA; ; McLaughlin H; Person R; Crunk A; Wangler MF; Streff H; Symonds JD; Zuberi SM; Elliott KS; Sanders VR; Masunga A; Hopkin RJ; Dubbs HA; Ortiz-Gonzalez XR; Pfundt R; Brunner HG; Fisher SE; Kleefstra T; Cooper GM
Hum Genet; 2018 May; 137(5):375-388. PubMed ID: 29740699
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. Systemic lupus erythematosus: A new autoimmune disorder in Kabuki syndrome.
Arsov T; Sestan M; Cekada N; Frkovic M; Andrews D; He Y; Shen N; Vinuesa CG; Jelusic M
Eur J Med Genet; 2019 Jun; 62(6):103538. PubMed ID: 30213761
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder.
Calpena E; Hervieu A; Kaserer T; Swagemakers SMA; Goos JAC; Popoola O; Ortiz-Ruiz MJ; Barbaro-Dieber T; Bownass L; Brilstra EH; Brimble E; Foulds N; Grebe TA; Harder AVE; Lees MM; Monaghan KG; Newbury-Ecob RA; Ong KR; Osio D; Reynoso Santos FJ; Ruzhnikov MRZ; Telegrafi A; van Binsbergen E; van Dooren MF; ; van der Spek PJ; Blagg J; Twigg SRF; Mathijssen IMJ; Clarke PA; Wilkie AOM
Am J Hum Genet; 2019 Apr; 104(4):709-720. PubMed ID: 30905399
[TBL] [Abstract][Full Text] [Related]
11. Neuroimaging in Kabuki syndrome and another KMT2D-related disorder.
Stadelmaier RT; Kenna MA; Barrett D; Mullen TE; Bodamer O; Agrawal PB; Robson CD; Wojcik MH
Am J Med Genet A; 2021 Dec; 185(12):3770-3783. PubMed ID: 34369642
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Kabuki syndrome: novel pathogenic variants, new phenotypes and review of literature.
Shangguan H; Su C; Ouyang Q; Cao B; Wang J; Gong C; Chen R
Orphanet J Rare Dis; 2019 Nov; 14(1):255. PubMed ID: 31727177
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients.
Micale L; Augello B; Fusco C; Selicorni A; Loviglio MN; Silengo MC; Reymond A; Gumiero B; Zucchetti F; D'Addetta EV; Belligni E; Calcagnì A; Digilio MC; Dallapiccola B; Faravelli F; Forzano F; Accadia M; Bonfante A; Clementi M; Daolio C; Douzgou S; Ferrari P; Fischetto R; Garavelli L; Lapi E; Mattina T; Melis D; Patricelli MG; Priolo M; Prontera P; Renieri A; Mencarelli MA; Scarano G; della Monica M; Toschi B; Turolla L; Vancini A; Zatterale A; Gabrielli O; Zelante L; Merla G
Orphanet J Rare Dis; 2011 Jun; 6():38. PubMed ID: 21658225
[TBL] [Abstract][Full Text] [Related]
16. Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiency.
Dentici ML; Barresi S; Niceta M; Pantaleoni F; Pizzi S; Dallapiccola B; Tartaglia M; Digilio MC
Clin Genet; 2018 Feb; 93(2):401-407. PubMed ID: 28374925
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndrome.
Baldridge D; Spillmann RC; Wegner DJ; Wambach JA; White FV; Sisco K; Toler TL; Dickson PI; Cole FS; Shashi V; Grange DK
Am J Med Genet A; 2020 May; 182(5):1053-1065. PubMed ID: 32083401
[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. 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]
