BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

208 related articles for article (PubMed ID: 35043535)

  • 1. The utility of DNA methylation signatures in directing genome sequencing workflow: Kabuki syndrome and CDK13-related disorder.
    Marwaha A; Costain G; Cytrynbaum C; Mendoza-Londono R; Chad L; Awamleh Z; Chater-Diehl E; Choufani S; Weksberg R
    Am J Med Genet A; 2022 May; 188(5):1368-1375. PubMed ID: 35043535
    [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. 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]  

  • 5. 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]  

  • 6. Investigation of genetic and phenotypic heterogeneity in 37 Turkish patients with Kabuki and Kabuki-like phenotype.
    Usluer E; Sayın GY; Güneş N; Kasap B; Tüysüz B
    Am J Med Genet A; 2022 Oct; 188(10):2976-2987. PubMed ID: 36097644
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Genome-wide DNA methylation profiling confirms a case of low-level mosaic Kabuki syndrome 1.
    Montano C; Britton JF; Harris JR; Kerkhof J; Barnes BT; Lee JA; Sadikovic B; Sobreira N; Fahrner JA
    Am J Med Genet A; 2022 Jul; 188(7):2217-2225. PubMed ID: 35384273
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Identification of a KDM6A somatic mutation responsible for Kabuki syndrome by excluding a conflicting KMT2D germline variant through episignature analysis.
    Kawai T; Iwasaki Y; Ogata-Kawata H; Kamura H; Nakamura K; Hata K; Takano T; Nakabayashi K
    Eur J Med Genet; 2023 Aug; 66(8):104806. PubMed ID: 37379880
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 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. CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions.
    Butcher DT; Cytrynbaum C; Turinsky AL; Siu MT; Inbar-Feigenberg M; Mendoza-Londono R; Chitayat D; Walker S; Machado J; Caluseriu O; Dupuis L; Grafodatskaya D; Reardon W; Gilbert-Dussardier B; Verloes A; Bilan F; Milunsky JM; Basran R; Papsin B; Stockley TL; Scherer SW; Choufani S; Brudno M; Weksberg R
    Am J Hum Genet; 2017 May; 100(5):773-788. PubMed ID: 28475860
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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]  

  • 17. 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]  

  • 18. 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]  

  • 19. The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significance.
    Aref-Eshghi E; Schenkel LC; Lin H; Skinner C; Ainsworth P; Paré G; Rodenhiser D; Schwartz C; Sadikovic B
    Epigenetics; 2017; 12(11):923-933. PubMed ID: 28933623
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 11.