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Journal Abstract Search

666 related items for PubMed ID: 25724810

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  • 6. Striking phenotypic overlap between Nicolaides-Baraitser and Coffin-Siris syndromes in monozygotic twins with ARID1B intragenic deletion.
    Pascolini G, Valiante M, Bottillo I, Laino L, Fleischer N, Ferraris A, Grammatico P.
    Eur J Med Genet; 2020 Mar; 63(3):103739. PubMed ID: 31421289
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  • 8. Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndrome.
    Miyake N, Abdel-Salam G, Yamagata T, Eid MM, Osaka H, Okamoto N, Mohamed AM, Ikeda T, Afifi HH, Piard J, van Maldergem L, Mizuguchi T, Miyatake S, Tsurusaki Y, Matsumoto N.
    Am J Med Genet A; 2016 Oct; 170(10):2662-70. PubMed ID: 27264538
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  • 13. SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases.
    Zarate YA, Bhoj E, Kaylor J, Li D, Tsurusaki Y, Miyake N, Matsumoto N, Phadke S, Escobar L, Irani A, Hakonarson H, Schrier Vergano SA.
    Am J Med Genet A; 2016 Aug; 170(8):1967-73. PubMed ID: 27264197
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  • 16. Coffin-Siris syndrome is a SWI/SNF complex disorder.
    Tsurusaki Y, Okamoto N, Ohashi H, Mizuno S, Matsumoto N, Makita Y, Fukuda M, Isidor B, Perrier J, Aggarwal S, Dalal AB, Al-Kindy A, Liebelt J, Mowat D, Nakashima M, Saitsu H, Miyake N, Matsumoto N.
    Clin Genet; 2014 Jun; 85(6):548-54. PubMed ID: 23815551
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  • 17. Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: historical review and recent advances using next generation sequencing.
    Kosho T, Miyake N, Carey JC.
    Am J Med Genet C Semin Med Genet; 2014 Sep; 166C(3):241-51. PubMed ID: 25169878
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  • 18. Coffin-Siris syndrome: phenotypic evolution of a novel SMARCA4 mutation.
    Tzeng M, du Souich C, Cheung HW, Boerkoel CF.
    Am J Med Genet A; 2014 Jul; 164A(7):1808-14. PubMed ID: 24700502
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  • 19. Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin-Siris syndrome-like phenotype.
    Bramswig NC, Caluseriu O, Lüdecke HJ, Bolduc FV, Noel NC, Wieland T, Surowy HM, Christen HJ, Engels H, Strom TM, Wieczorek D.
    Hum Genet; 2017 Mar; 136(3):297-305. PubMed ID: 28124119
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  • 20. Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A.
    Kosho T, Okamoto N, Coffin-Siris Syndrome International Collaborators.
    Am J Med Genet C Semin Med Genet; 2014 Sep; 166C(3):262-75. PubMed ID: 25168959
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