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Journal Abstract Search

338 related items for PubMed ID: 31446696

  • 21. 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]

  • 22. 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
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  • 23. [Clinical and laboratory characteristics and genetic diagnosis of Kabuki syndrome].
    Wang HM, Wang XH, Wu HS, Wu Y, Zhuo XW.
    Zhonghua Er Ke Za Zhi; 2018 Nov 02; 56(11):846-849. PubMed ID: 30392209
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  • 24. Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype.
    Paderova J, Drabova J, Holubova A, Vlckova M, Havlovicova M, Gregorova A, Pourova R, Romankova V, Moslerova V, Geryk J, Norambuena P, Krulisova V, Krepelova A, Macek M, Macek M.
    Eur J Med Genet; 2018 Jun 02; 61(6):315-321. PubMed ID: 29307790
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  • 25. 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 02; 173(8):2219-2225. PubMed ID: 28590022
    [Abstract] [Full Text] [Related]

  • 26. Kabuki Syndrome-Clinical Review with Molecular Aspects.
    Boniel S, Szymańska K, Śmigiel R, Szczałuba K.
    Genes (Basel); 2021 Mar 25; 12(4):. PubMed ID: 33805950
    [Abstract] [Full Text] [Related]

  • 27. 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 25; 13(4):452-455. PubMed ID: 32830475
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  • 34. [Clinical and genetic characteristics of four children with Kabuki syndrome due to de novo variants of KMT2D gene].
    Fan H, Wang Y, Wu Y, Jia L, Wang L, Shen Y.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 May 10; 41(5):546-550. PubMed ID: 38684298
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  • 35. Novel KDM6A splice-site mutation in kabuki syndrome with congenital hydrocephalus: a case report.
    Guo Z, Liu F, Li HJ.
    BMC Med Genet; 2018 Dec 03; 19(1):206. PubMed ID: 30509212
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  • 36. Hearing characteristics and otoradiological abnormalities in three patients with novel pathogenic variants of KMT2D-related Kabuki syndrome.
    Zheng Z, Ding L, Wang M, Zhang Y, Yang Y, Tang M, Xu J, Wang L, Wu J, Li H.
    Mol Genet Genomic Med; 2024 Jan 03; 12(1):e2306. PubMed ID: 37921229
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  • 38. 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 03; 170A(5):1333-8. PubMed ID: 26898171
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  • 39. 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 03; 182(1):85-92. PubMed ID: 31654559
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