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Journal Abstract Search

346 related items for PubMed ID: 26841933

  • 21. 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
    [Abstract] [Full Text] [Related]

  • 22. 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
    [Abstract] [Full Text] [Related]

  • 23. Unraveling molecular pathways shared by Kabuki and Kabuki-like syndromes.
    Lintas C, Persico AM.
    Clin Genet; 2018 Oct; 94(3-4):283-295. PubMed ID: 28139835
    [Abstract] [Full Text] [Related]

  • 24. The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significance.
    Aref-Eshghi E, Schenkel LC, Lin H, Skinner C, Ainsworth P, Paré G, Rodenhiser D, Schwartz C, Sadikovic B.
    Epigenetics; 2017 Oct; 12(11):923-933. PubMed ID: 28933623
    [Abstract] [Full Text] [Related]

  • 25. Growth charts in Kabuki syndrome 1.
    Ruault V, Corsini C, Duflos C, Akouete S, Georgescu V, Abaji M, Alembick Y, Alix E, Amiel J, Amouroux C, Barat-Houari M, Baumann C, Bonnard A, Boursier G, Boute O, Burglen L, Busa T, Cordier MP, Cormier-Daire V, Delrue MA, Doray B, Faivre L, Fradin M, Gilbert-Dussardier B, Giuliano F, Goldenberg A, Gorokhova S, Héron D, Isidor B, Jacquemont ML, Jacquette A, Jeandel C, Lacombe D, Le Merrer M, Sang KHLQ, Lyonnet S, Manouvrier S, Michot C, Moncla A, Moutton S, Odent S, Pelet A, Philip N, Pinson L, Reversat J, Roume J, Sanchez E, Sanlaville D, Sarda P, Schaefer E, Till M, Touitou I, Toutain A, Willems M, Gatinois V, Geneviève D.
    Am J Med Genet A; 2020 Mar; 182(3):446-453. PubMed ID: 31876365
    [Abstract] [Full Text] [Related]

  • 26. 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
    [Abstract] [Full Text] [Related]

  • 27. 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
    [Abstract] [Full Text] [Related]

  • 28. Prenatal and perinatal history in Kabuki Syndrome.
    Rosenberg CE, Daly T, Hung C, Hsueh I, Lindsley AW, Bodamer O.
    Am J Med Genet A; 2020 Jan; 182(1):85-92. PubMed ID: 31654559
    [Abstract] [Full Text] [Related]

  • 29. 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
    [Abstract] [Full Text] [Related]

  • 30. 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
    [Abstract] [Full Text] [Related]

  • 31. Investigation of genetic and phenotypic heterogeneity in 37 Turkish patients with Kabuki and Kabuki-like phenotype.
    Usluer E, Sayın GY, Güneş N, Kasap B, Tüysüz B.
    Am J Med Genet A; 2022 Oct; 188(10):2976-2987. PubMed ID: 36097644
    [Abstract] [Full Text] [Related]

  • 32. A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A.
    Lederer D, Shears D, Benoit V, Verellen-Dumoulin C, Maystadt I.
    Am J Med Genet A; 2014 May; 164A(5):1289-92. PubMed ID: 24664873
    [Abstract] [Full Text] [Related]

  • 33. DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism.
    Niceta M, Ciolfi A, Ferilli M, Pedace L, Cappelletti C, Nardini C, Hildonen M, Chiriatti L, Miele E, Dentici ML, Gnazzo M, Cesario C, Pisaneschi E, Baban A, Novelli A, Maitz S, Selicorni A, Squeo GM, Merla G, Dallapiccola B, Tumer Z, Digilio MC, Priolo M, Tartaglia M.
    Eur J Hum Genet; 2024 Jul; 32(7):819-826. PubMed ID: 38528056
    [Abstract] [Full Text] [Related]

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  • 35. 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; 14(1):255. PubMed ID: 31727177
    [Abstract] [Full Text] [Related]

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  • 37. Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndrome.
    Lindsley AW, Saal HM, Burrow TA, Hopkin RJ, Shchelochkov O, Khandelwal P, Xie C, Bleesing J, Filipovich L, Risma K, Assa'ad AH, Roehrs PA, Bernstein JA.
    J Allergy Clin Immunol; 2016 Jan 14; 137(1):179-187.e10. PubMed ID: 26194542
    [Abstract] [Full Text] [Related]

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  • 39. On the significance of craniosynostosis in a case of Kabuki syndrome with a concomitant KMT2D mutation and 3.2 Mbp de novo 10q22.3q23.1 deletion.
    Topa A, Samuelsson L, Lovmar L, Stenman G, Kölby L.
    Am J Med Genet A; 2017 Aug 14; 173(8):2219-2225. PubMed ID: 28590022
    [Abstract] [Full Text] [Related]

  • 40. 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 01; 27(21):3651-3668. PubMed ID: 30107592
    [Abstract] [Full Text] [Related]

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