BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

253 related articles for article (PubMed ID: 29536651)

  • 1. 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]  

  • 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. 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. 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]  

  • 5. 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]  

  • 6. Hypermobility in individuals with Kabuki syndrome: The effect of growth hormone treatment.
    Schott DA; Stumpel CTRM; Klaassens M
    Am J Med Genet A; 2019 Feb; 179(2):219-223. PubMed ID: 30556359
    [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. Autism spectrum disorder in Kabuki syndrome: clinical, diagnostic and rehabilitative aspects assessed through the presentation of three cases.
    Parisi L; Di Filippo T; Roccella M
    Minerva Pediatr; 2015 Aug; 67(4):369-75. PubMed ID: 26129805
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. Growth charts in Kabuki syndrome 1.
    Ruault V; Corsini C; Duflos C; Akouete S; Georgescu V; Abaji M; Alembick Y; Alix E; Amiel J; Amouroux C; Barat-Houari M; Baumann C; Bonnard A; Boursier G; Boute O; Burglen L; Busa T; Cordier MP; Cormier-Daire V; Delrue MA; Doray B; Faivre L; Fradin M; Gilbert-Dussardier B; Giuliano F; Goldenberg A; Gorokhova S; Héron D; Isidor B; Jacquemont ML; Jacquette A; Jeandel C; Lacombe D; Le Merrer M; Sang KHLQ; Lyonnet S; Manouvrier S; Michot C; Moncla A; Moutton S; Odent S; Pelet A; Philip N; Pinson L; Reversat J; Roume J; Sanchez E; Sanlaville D; Sarda P; Schaefer E; Till M; Touitou I; Toutain A; Willems M; Gatinois V; Geneviève D
    Am J Med Genet A; 2020 Mar; 182(3):446-453. PubMed ID: 31876365
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. Molecularly confirmed Kabuki (Niikawa-Kuroki) syndrome patients demonstrate a specific cognitive profile with extensive visuospatial abnormalities.
    Harris J; Mahone EM; Bjornsson HT
    J Intellect Disabil Res; 2019 Jun; 63(6):489-497. PubMed ID: 30767315
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. 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]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 13.