These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

382 related articles for article (PubMed ID: 25944076)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 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 a part of Kabuki syndrome].
    Benina AR; Melikyan MA
    Probl Endokrinol (Mosk); 2022 Jul; 68(5):91-96. PubMed ID: 36337023
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life.
    Luperchio TR; Applegate CD; Bodamer O; Bjornsson HT
    Mol Genet Genomic Med; 2020 Feb; 8(2):e1072. PubMed ID: 31814321
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Growth pattern in Kabuki syndrome with a KMT2D mutation.
    Schott DA; Blok MJ; Gerver WJ; Devriendt K; Zimmermann LJ; Stumpel CT
    Am J Med Genet A; 2016 Dec; 170(12):3172-3179. PubMed ID: 27530205
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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]  

  • 20. Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations.
    Lehman N; Mazery AC; Visier A; Baumann C; Lachesnais D; Capri Y; Toutain A; Odent S; Mikaty M; Goizet C; Taupiac E; Jacquemont ML; Sanchez E; Schaefer E; Gatinois V; Faivre L; Minot D; Kayirangwa H; Sang KLQ; Boddaert N; Bayard S; Lacombe D; Moutton S; Touitou I; Rio M; Amiel J; Lyonnet S; Sanlaville D; Picot MC; Geneviève D
    Clin Genet; 2017 Sep; 92(3):298-305. PubMed ID: 28295206
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 20.