BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

127 related articles for article (PubMed ID: 22243360)

  • 1. Is Hardikar syndrome distinct from Kabuki (Niikawa-Kuroki) syndrome?
    Ejarque I; Uliana V; Forzano F; Marciano C; Merla G; Zelante L; Di Maria E; Faravelli F
    Clin Genet; 2011 Nov; 80(5):493-6. PubMed ID: 22243360
    [No Abstract]   [Full Text] [Related]  

  • 2. 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]  

  • 3. Hardikar syndrome: a new syndrome with cleft lip/palate, pigmentary retinopathy and cholestasis.
    Cools F; Jaeken J
    Am J Med Genet; 1997 Sep; 71(4):472-4. PubMed ID: 9286458
    [TBL] [Abstract][Full Text] [Related]  

  • 4. MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.
    Makrythanasis P; van Bon BW; Steehouwer M; Rodríguez-Santiago B; Simpson M; Dias P; Anderlid BM; Arts P; Bhat M; Augello B; Biamino E; Bongers EM; Del Campo M; Cordeiro I; Cueto-González AM; Cuscó I; Deshpande C; Frysira E; Izatt L; Flores R; Galán E; Gener B; Gilissen C; Granneman SM; Hoyer J; Yntema HG; Kets CM; Koolen DA; Marcelis Cl; Medeira A; Micale L; Mohammed S; de Munnik SA; Nordgren A; Psoni S; Reardon W; Revencu N; Roscioli T; Ruiterkamp-Versteeg M; Santos HG; Schoumans J; Schuurs-Hoeijmakers JH; Silengo MC; Toledo L; Vendrell T; van der Burgt I; van Lier B; Zweier C; Reymond A; Trembath RC; Perez-Jurado L; Dupont J; de Vries BB; Brunner HG; Veltman JA; Merla G; Antonarakis SE; Hoischen A
    Clin Genet; 2013 Dec; 84(6):539-45. PubMed ID: 23320472
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Autoimmune haematological disorders in two Italian children with Kabuki syndrome.
    Giordano P; Lassandro G; Sangerardi M; Faienza MF; Valente F; Martire B
    Ital J Pediatr; 2014 Jan; 40():10. PubMed ID: 24460868
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Lower lip pits: van der woude or kabuki syndrome?
    David-Paloyo FP; Yang X; Lin JL; Wong FH; Wu-Chou YH; Lo LJ
    Cleft Palate Craniofac J; 2014 Nov; 51(6):729-34. PubMed ID: 24088119
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 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. 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]  

  • 13. 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]  

  • 14. Autism spectrum disorder in Kabuki syndrome: clinical, diagnostic and rehabilitative aspects assessed through the presentation of three cases.
    Parisi L; Di Filippo T; Roccella M
    Minerva Pediatr; 2015 Aug; 67(4):369-75. PubMed ID: 26129805
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Absence of deletion and duplication of MLL2 and KDM6A genes in a large cohort of patients with Kabuki syndrome.
    Priolo M; Micale L; Augello B; Fusco C; Zucchetti F; Prontera P; Paduano V; Biamino E; Selicorni A; Mammì C; Laganà C; Zelante L; Merla G
    Mol Genet Metab; 2012 Nov; 107(3):627-9. PubMed ID: 22840376
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Body proportions in children with Kabuki syndrome.
    Penders B; Schott N; Gerver WJ; Stumpel CT
    Am J Med Genet A; 2016 Mar; 170(3):610-4. PubMed ID: 26553706
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients.
    Micale L; Augello B; Fusco C; Selicorni A; Loviglio MN; Silengo MC; Reymond A; Gumiero B; Zucchetti F; D'Addetta EV; Belligni E; Calcagnì A; Digilio MC; Dallapiccola B; Faravelli F; Forzano F; Accadia M; Bonfante A; Clementi M; Daolio C; Douzgou S; Ferrari P; Fischetto R; Garavelli L; Lapi E; Mattina T; Melis D; Patricelli MG; Priolo M; Prontera P; Renieri A; Mencarelli MA; Scarano G; della Monica M; Toschi B; Turolla L; Vancini A; Zatterale A; Gabrielli O; Zelante L; Merla G
    Orphanet J Rare Dis; 2011 Jun; 6():38. PubMed ID: 21658225
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. [Clinical diagnosis of Kabuki syndrome: phenotype and associated abnormalities in two new cases].
    Andersen MS; Menazzi S; Brun P; Cocah C; Merla G; Solari A
    Arch Argent Pediatr; 2014 Feb; 112(1):e13-e17. PubMed ID: 24566779
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.