BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

185 related articles for article (PubMed ID: 34515044)

  • 1. A Patient with Kabuki Syndrome Mutation Presenting with Very Severe Aplastic Anemia.
    Tamura S; Kosako H; Furuya Y; Yamashita Y; Mushino T; Mishima H; Kinoshita A; Nishikawa A; Yoshiura KI; Sonoki T
    Acta Haematol; 2022; 145(1):89-96. PubMed ID: 34515044
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. The histone methyltransferase KMT2D, mutated in Kabuki syndrome patients, is required for neural crest cell formation and migration.
    Schwenty-Lara J; Nehl D; Borchers A
    Hum Mol Genet; 2020 Jan; 29(2):305-319. PubMed ID: 31813957
    [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. 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]  

  • 7. 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]  

  • 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. Systemic lupus erythematosus: A new autoimmune disorder in Kabuki syndrome.
    Arsov T; Sestan M; Cekada N; Frkovic M; Andrews D; He Y; Shen N; Vinuesa CG; Jelusic M
    Eur J Med Genet; 2019 Jun; 62(6):103538. PubMed ID: 30213761
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A novel KMT2D mutation resulting in Kabuki syndrome: A case report.
    Lu J; Mo G; Ling Y; Ji L
    Mol Med Rep; 2016 Oct; 14(4):3641-5. PubMed ID: 27573763
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Burkitt lymphoma in a patient with Kabuki syndrome carrying a novel KMT2D mutation.
    de Billy E; Strocchio L; Cacchione A; Agolini E; Gnazzo M; Novelli A; De Vito R; Capolino R; Digilio MC; Caruso R; Mastronuzzi A; Locatelli F
    Am J Med Genet A; 2019 Jan; 179(1):113-117. PubMed ID: 30569626
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. Neonatal case of novel KMT2D mutation in Kabuki syndrome with severe hypoglycemia.
    Gohda Y; Oka S; Matsunaga T; Watanabe S; Yoshiura K; Kondoh T; Matsumoto T
    Pediatr Int; 2015 Aug; 57(4):726-8. PubMed ID: 25944076
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A de novo KMT2D mutation in a girl with Kabuki syndrome associated with endocrine symptoms: a case report.
    Moon JE; Lee SJ; Ko CW
    BMC Med Genet; 2018 Jun; 19(1):102. PubMed ID: 29914387
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 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. Cancer Management in Kabuki Syndrome: The First Case of Wilms Tumor and a Literature Review.
    Teranishi H; Koga Y; Nakashima K; Morihana E; Ishii K; Sakai Y; Taguchi T; Oda Y; Miyake N; Matsumoto N; Ohga S
    J Pediatr Hematol Oncol; 2018 Jul; 40(5):391-394. PubMed ID: 29489735
    [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 10.