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Journal Abstract Search

212 related items for PubMed ID: 28027321

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  • 4. [From gene to disease; EVC, EVC2, and Ellis-van Creveld syndrome].
    van Hagen JM, Baart JA, Gille JJ.
    Ned Tijdschr Geneeskd; 2005 Apr 23; 149(17):929-31. PubMed ID: 15884406
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  • 5. Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands.
    Ruiz-Perez VL, Goodship JA.
    Am J Med Genet C Semin Med Genet; 2009 Nov 15; 151C(4):341-51. PubMed ID: 19876929
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  • 12. Two novel heterozygous mutations of EVC2 cause a mild phenotype of Ellis-van Creveld syndrome in a Chinese family.
    Shen W, Han D, Zhang J, Zhao H, Feng H.
    Am J Med Genet A; 2011 Sep 15; 155A(9):2131-6. PubMed ID: 21815252
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  • 13. Common atrium/atrioventricular canal defect and postaxial polydactyly: A mild clinical subtype of Ellis-van Creveld syndrome caused by hypomorphic mutations in the EVC gene.
    Piceci-Sparascio F, Palencia-Campos A, Soto-Bielicka P, D'Anzi A, Guida V, Rosati J, Caparros-Martin JA, Torrente I, D'Asdia MC, Versacci P, Briuglia S, Lapunzina P, Tartaglia M, Marino B, Digilio MC, Ruiz-Perez VL, De Luca A.
    Hum Mutat; 2020 Dec 15; 41(12):2087-2093. PubMed ID: 32906221
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  • 14. Molecular and Cellular Pathogenesis of Ellis-van Creveld Syndrome: Lessons from Targeted and Natural Mutations in Animal Models.
    Louie KW, Mishina Y, Zhang H.
    J Dev Biol; 2020 Oct 09; 8(4):. PubMed ID: 33050204
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  • 16. Novel homozygous mutations in the EVC and EVC2 genes in two consanguineous families segregating autosomal recessive Ellis-van Creveld syndrome.
    Aziz A, Raza SI, Ali S, Ahmad W.
    Clin Dysmorphol; 2016 Jan 09; 25(1):1-6. PubMed ID: 26580685
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  • 17. Smoothened transduces Hedgehog signal by forming a complex with Evc/Evc2.
    Yang C, Chen W, Chen Y, Jiang J.
    Cell Res; 2012 Nov 09; 22(11):1593-604. PubMed ID: 22986504
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  • 18. An intrafamilial phenotypic variability in Ellis-Van Creveld syndrome due to a novel 27 bps deletion mutation.
    Zaka A, Shahzad S, Rao HZ, Kanwal S, Gul A, Basit S.
    Am J Med Genet A; 2021 Oct 09; 185(10):2888-2894. PubMed ID: 34037314
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  • 20. Novel mutations in EVC cause aberrant splicing in Ellis-van Creveld syndrome.
    Shi L, Luo C, Ahmed MK, Attaie AB, Ye X.
    Mol Genet Genomics; 2016 Apr 09; 291(2):863-72. PubMed ID: 26621368
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