BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

350 related articles for article (PubMed ID: 32803813)

  • 1. 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]  

  • 2. 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]  

  • 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. 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]  

  • 5. Clinical and molecular characterization study of Chinese Kabuki syndrome in Hong Kong.
    So PL; Luk HM; Yu KPT; Cheng SSW; Hau EWL; Ho SKL; Lam STS; Lo IFM
    Am J Med Genet A; 2021 Mar; 185(3):675-686. PubMed ID: 33314698
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. Kabuki Syndrome-Clinical Review with Molecular Aspects.
    Boniel S; Szymańska K; Śmigiel R; Szczałuba K
    Genes (Basel); 2021 Mar; 12(4):. PubMed ID: 33805950
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 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. 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]  

  • 16. 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]  

  • 17. 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]  

  • 18. 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]  

  • 19. 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]  

  • 20. [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]  

    [Next]    [New Search]
    of 18.