BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

328 related articles for article (PubMed ID: 26841933)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 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. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. 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]  

  • 18. 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]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 17.