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PUBMED FOR HANDHELDS

Journal Abstract Search


281 related items for PubMed ID: 27901041

  • 1. Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition.
    Kuechler A, Czeschik JC, Graf E, Grasshoff U, Hüffmeier U, Busa T, Beck-Woedl S, Faivre L, Rivière JB, Bader I, Koch J, Reis A, Hehr U, Rittinger O, Sperl W, Haack TB, Wieland T, Engels H, Prokisch H, Strom TM, Lüdecke HJ, Wieczorek D.
    Eur J Hum Genet; 2017 Feb; 25(2):183-191. PubMed ID: 27901041
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  • 6. De novo nonsense variant in ASXL3 in a Chinese girl causing Bainbridge-Ropers syndrome: A case report and review of literature.
    Wang Q, Zhang J, Jiang N, Xie J, Yang J, Zhao X.
    Mol Genet Genomic Med; 2022 May; 10(5):e1924. PubMed ID: 35276034
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  • 11. De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome.
    Srivastava A, Ritesh KC, Tsan YC, Liao R, Su F, Cao X, Hannibal MC, Keegan CE, Chinnaiyan AM, Martin DM, Bielas SL.
    Hum Mol Genet; 2016 Feb 01; 25(3):597-608. PubMed ID: 26647312
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  • 14. Case report : a novel ASXL3 gene variant in a Sudanese boy.
    Wu K, Cong Y.
    BMC Pediatr; 2021 Dec 09; 21(1):557. PubMed ID: 34886823
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  • 15. [Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with Bainbridge-Ropers syndrome].
    Li J, Xu J, She M, Shi P, Kong X, Wang L.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Nov 10; 39(11):1228-1232. PubMed ID: 36317208
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  • 17. Familial Bainbridge-Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype.
    Schirwani S, Woods E, Koolen DA, Ockeloen CW, Lynch SA, Kavanagh K, Graham JM, Grand K, Pierson TM, Chung JM, Balasubramanian M.
    Am J Med Genet A; 2023 Jan 10; 191(1):29-36. PubMed ID: 36177608
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  • 19. Novel Nonsense Mutation in ASXL3 causing Bainbridge-Ropers Syndrome.
    Qiao L, Liu Y, Ge J, Li T.
    Indian Pediatr; 2019 Sep 15; 56(9):792-794. PubMed ID: 31638014
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