BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

326 related articles for article (PubMed ID: 24739679)

  • 1. 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]  

  • 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. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 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. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndrome.
    Lindsley AW; Saal HM; Burrow TA; Hopkin RJ; Shchelochkov O; Khandelwal P; Xie C; Bleesing J; Filipovich L; Risma K; Assa'ad AH; Roehrs PA; Bernstein JA
    J Allergy Clin Immunol; 2016 Jan; 137(1):179-187.e10. PubMed ID: 26194542
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Dissecting KMT2D missense mutations in Kabuki syndrome patients.
    Cocciadiferro D; Augello B; De Nittis P; Zhang J; Mandriani B; Malerba N; Squeo GM; Romano A; Piccinni B; Verri T; Micale L; Pasqualucci L; Merla G
    Hum Mol Genet; 2018 Nov; 27(21):3651-3668. PubMed ID: 30107592
    [TBL] [Abstract][Full Text] [Related]  

  • 14. RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome.
    Bögershausen N; Tsai IC; Pohl E; Kiper PÖ; Beleggia F; Percin EF; Keupp K; Matchan A; Milz E; Alanay Y; Kayserili H; Liu Y; Banka S; Kranz A; Zenker M; Wieczorek D; Elcioglu N; Prontera P; Lyonnet S; Meitinger T; Stewart AF; Donnai D; Strom TM; Boduroglu K; Yigit G; Li Y; Katsanis N; Wollnik B
    J Clin Invest; 2015 Sep; 125(9):3585-99. PubMed ID: 26280580
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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]  

  • 17. [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]  

  • 18. 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]  

  • 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]
    of 17.