BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

196 related articles for article (PubMed ID: 26553706)

  • 21. 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]  

  • 22. 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]  

  • 23. 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]  

  • 24. 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]  

  • 25. 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]  

  • 26. 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]  

  • 27. Rare ocular features in a case of Kabuki syndrome (Niikawa-Kuroki syndrome).
    Chen YH; Sun MH; Hsia SH; Lai CC; Wu WC
    BMC Ophthalmol; 2014 Nov; 14():143. PubMed ID: 25421742
    [TBL] [Abstract][Full Text] [Related]  

  • 28. 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]  

  • 29. 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]  

  • 30. Changes in ocular motility in Kabuki syndrome.
    Del Cerro I; Merino P; Gómez de Liaño P; Alan G
    Arch Soc Esp Oftalmol (Engl Ed); 2020 Jan; 95(1):38-41. PubMed ID: 31740281
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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]  

  • 32. 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]  

  • 33. 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]  

  • 34. MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome.
    Banka S; Howard E; Bunstone S; Chandler KE; Kerr B; Lachlan K; McKee S; Mehta SG; Tavares AL; Tolmie J; Donnai D
    Clin Genet; 2013 May; 83(5):467-71. PubMed ID: 22901312
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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]  

  • 36. Kabuki syndrome: review of the clinical features, diagnosis and epigenetic mechanisms.
    Wang YR; Xu NX; Wang J; Wang XM
    World J Pediatr; 2019 Dec; 15(6):528-535. PubMed ID: 31587141
    [TBL] [Abstract][Full Text] [Related]  

  • 37. 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]  

  • 38. Immunologic assessment and KMT2D mutation detection in Kabuki syndrome.
    Lin JL; Lee WI; Huang JL; Chen PK; Chan KC; Lo LJ; You YJ; Shih YF; Tseng TY; Wu MC
    Clin Genet; 2015 Sep; 88(3):255-60. PubMed ID: 25142838
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome.
    Hannibal MC; Buckingham KJ; Ng SB; Ming JE; Beck AE; McMillin MJ; Gildersleeve HI; Bigham AW; Tabor HK; Mefford HC; Cook J; Yoshiura K; Matsumoto T; Matsumoto N; Miyake N; Tonoki H; Naritomi K; Kaname T; Nagai T; Ohashi H; Kurosawa K; Hou JW; Ohta T; Liang D; Sudo A; Morris CA; Banka S; Black GC; Clayton-Smith J; Nickerson DA; Zackai EH; Shaikh TH; Donnai D; Niikawa N; Shendure J; Bamshad MJ
    Am J Med Genet A; 2011 Jul; 155A(7):1511-6. PubMed ID: 21671394
    [TBL] [Abstract][Full Text] [Related]  

  • 40. 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]  

    [Previous]   [Next]    [New Search]
    of 10.