BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

294 related articles for article (PubMed ID: 32948218)

  • 1. Neonatal hyperinsulinemic hypoglycemia: case report of kabuki syndrome due to a novel KMT2D splicing-site mutation.
    Piro E; Schierz IAM; Antona V; Pappalardo MP; Giuffrè M; Serra G; Corsello G
    Ital J Pediatr; 2020 Sep; 46(1):136. PubMed ID: 32948218
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Kabuki syndrome with midgut malrotation and hyperinsulinemic hypoglycemia: A rare co-occurrence from Thailand.
    Phetthong T; Tim-Aroon T; Khongkrapan A; Poomthavorn P; Wattanasirichaigoon D
    Am J Med Genet A; 2020 Aug; 182(8):1873-1876. PubMed ID: 32525229
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A Rare Cause of Hyperinsulinemic Hypoglycemia: Kabuki Syndrome.
    Mısırlıgil M; Yıldız Y; Akın O; Odabaşı Güneş S; Arslan M; Ünay B
    J Clin Res Pediatr Endocrinol; 2021 Nov; 13(4):452-455. PubMed ID: 32830475
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Hypoglycemia and Dandy-Walker variant in a Kabuki syndrome patient: a case report.
    Guo W; Zhao Y; Li S; Wang J; Liu X
    BMC Med Genet; 2020 Oct; 21(1):193. PubMed ID: 33008324
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Kabuki syndrome as a cause of non-immune fetal hydrops/ascites.
    Long A; Sinkovskaya ES; Edmondson AC; Zackai E; Schrier Vergano SA
    Am J Med Genet A; 2016 Dec; 170(12):3333-3337. PubMed ID: 27568880
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Hypoglycemia in Kabuki syndrome.
    Subbarayan A; Hussain K
    Am J Med Genet A; 2014 Feb; 164A(2):467-71. PubMed ID: 24311525
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. Interrupted/bipartite clavicle as a diagnostic clue in Kabuki syndrome.
    Haanpää M; Schlecht H; Batra G; Clayton-Smith J; Douzgou S
    Am J Med Genet A; 2017 Apr; 173(4):1115-1118. PubMed ID: 28256057
    [TBL] [Abstract][Full Text] [Related]  

  • 11. KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection.
    Badalato L; Farhan SM; Dilliott AA; ; Bulman DE; Hegele RA; Goobie SL
    Am J Med Genet A; 2017 Jan; 173(1):183-189. PubMed ID: 27991736
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. [Clinical and laboratory characteristics and genetic diagnosis of Kabuki syndrome].
    Wang HM; Wang XH; Wu HS; Wu Y; Zhuo XW
    Zhonghua Er Ke Za Zhi; 2018 Nov; 56(11):846-849. PubMed ID: 30392209
    [No Abstract]   [Full Text] [Related]  

  • 16. 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]  

  • 17. Novel MLL2 mutation in Kabuki syndrome with hypogammaglobulinemia and severe chronic thrombopenia.
    Brackmann F; Krumbholz M; Langer T; Rascher W; Holter W; Metzler M
    J Pediatr Hematol Oncol; 2013 Oct; 35(7):e314-6. PubMed ID: 23042018
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. [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]  

  • 20. 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]  

    [Next]    [New Search]
    of 15.