BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

297 related articles for article (PubMed ID: 24664873)

  • 41. Clinical and molecular spectrum of renal malformations in Kabuki syndrome.
    Courcet JB; Faivre L; Michot C; Burguet A; Perez-Martin S; Alix E; Amiel J; Baumann C; Cordier MP; Cormier-Daire V; Delrue MA; Gilbert-Dussardier B; Goldenberg A; Jacquemont ML; Jaquette A; Kayirangwa H; Lacombe D; Le Merrer M; Toutain A; Odent S; Moncla A; Pelet A; Philip N; Pinson L; Poisson S; Kim-Han le QS; Roume J; Sanchez E; Willems M; Till M; Vincent-Delorme C; Mousson C; Vinault S; Binquet C; Huet F; Sarda P; Salomon R; Lyonnet S; Sanlaville D; Geneviève D
    J Pediatr; 2013 Sep; 163(3):742-6. PubMed ID: 23535010
    [TBL] [Abstract][Full Text] [Related]  

  • 42. [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]  

  • 43. [Kabuki syndrome: Update and review].
    Arnaud M; Barat-Houari M; Gatinois V; Sanchez E; Lyonnet S; Touitou I; Geneviève D
    Arch Pediatr; 2015 Jun; 22(6):653-60. PubMed ID: 25934606
    [TBL] [Abstract][Full Text] [Related]  

  • 44. Kabuki syndrome: novel pathogenic variants, new phenotypes and review of literature.
    Shangguan H; Su C; Ouyang Q; Cao B; Wang J; Gong C; Chen R
    Orphanet J Rare Dis; 2019 Nov; 14(1):255. PubMed ID: 31727177
    [TBL] [Abstract][Full Text] [Related]  

  • 45. 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]  

  • 46. 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]  

  • 47. Kabuki Syndrome-Clinical Review with Molecular Aspects.
    Boniel S; Szymańska K; Śmigiel R; Szczałuba K
    Genes (Basel); 2021 Mar; 12(4):. PubMed ID: 33805950
    [TBL] [Abstract][Full Text] [Related]  

  • 48. Molecular mechanics and dynamic simulations of well-known Kabuki syndrome-associated KDM6A variants reveal putative mechanisms of dysfunction.
    Chi YI; Stodola TJ; De Assuncao TM; Leverence EN; Tripathi S; Dsouza NR; Mathison AJ; Basel DG; Volkman BF; Smith BC; Lomberk G; Zimmermann MT; Urrutia R
    Orphanet J Rare Dis; 2021 Feb; 16(1):66. PubMed ID: 33546721
    [TBL] [Abstract][Full Text] [Related]  

  • 49. The phenotypic spectrum of Kabuki syndrome in patients of Chinese descent: A case series.
    Wang Y; Li N; Su Z; Xu Y; Liu S; Chen Y; Li X; Shen Y; Hung C; Wang J; Wang X; Bodamer O
    Am J Med Genet A; 2020 Apr; 182(4):640-651. PubMed ID: 31883305
    [TBL] [Abstract][Full Text] [Related]  

  • 50. Clinical and molecular characterization study of Chinese Kabuki syndrome in Hong Kong.
    So PL; Luk HM; Yu KPT; Cheng SSW; Hau EWL; Ho SKL; Lam STS; Lo IFM
    Am J Med Genet A; 2021 Mar; 185(3):675-686. PubMed ID: 33314698
    [TBL] [Abstract][Full Text] [Related]  

  • 51. An unusual presentation of Kabuki syndrome: clinical overlap with CHARGE syndrome.
    Verhagen JM; Oostdijk W; Terwisscha van Scheltinga CE; Schalij-Delfos NE; van Bever Y
    Eur J Med Genet; 2014 Sep; 57(9):510-2. PubMed ID: 24862881
    [TBL] [Abstract][Full Text] [Related]  

  • 52. 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]  

  • 53. 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]  

  • 54. 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]  

  • 55. Hypermobility in individuals with Kabuki syndrome: The effect of growth hormone treatment.
    Schott DA; Stumpel CTRM; Klaassens M
    Am J Med Genet A; 2019 Feb; 179(2):219-223. PubMed ID: 30556359
    [TBL] [Abstract][Full Text] [Related]  

  • 56. 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]  

  • 57. Kabuki syndrome revisited.
    Bokinni Y
    J Hum Genet; 2012 Apr; 57(4):223-7. PubMed ID: 22437206
    [TBL] [Abstract][Full Text] [Related]  

  • 58. RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome.
    Bögershausen N; Tsai IC; Pohl E; Kiper PÖ; Beleggia F; Percin EF; Keupp K; Matchan A; Milz E; Alanay Y; Kayserili H; Liu Y; Banka S; Kranz A; Zenker M; Wieczorek D; Elcioglu N; Prontera P; Lyonnet S; Meitinger T; Stewart AF; Donnai D; Strom TM; Boduroglu K; Yigit G; Li Y; Katsanis N; Wollnik B
    J Clin Invest; 2015 Sep; 125(9):3585-99. PubMed ID: 26280580
    [TBL] [Abstract][Full Text] [Related]  

  • 59. 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]  

  • 60. Genome-wide DNA methylation and RNA analyses enable reclassification of two variants of uncertain significance in a patient with clinical Kabuki syndrome.
    Aref-Eshghi E; Bourque DK; Kerkhof J; Carere DA; Ainsworth P; Sadikovic B; Armour CM; Lin H
    Hum Mutat; 2019 Oct; 40(10):1684-1689. PubMed ID: 31268616
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 15.