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Journal Abstract Search

240 related items for PubMed ID: 12468274

  • 1. A new gene, EVC2, is mutated in Ellis-van Creveld syndrome.
    Galdzicka M, Patnala S, Hirshman MG, Cai JF, Nitowsky H, Egeland JA, Ginns EI.
    Mol Genet Metab; 2002 Dec; 77(4):291-5. PubMed ID: 12468274
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  • 6. Role of primary cilia and Hedgehog signaling in craniofacial features of Ellis-van Creveld syndrome.
    Thomas DC, Moorthy JD, Prabhakar V, Ajayakumar A, Pitchumani PK.
    Am J Med Genet C Semin Med Genet; 2022 Mar; 190(1):36-46. PubMed ID: 35393766
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  • 7. Identification of one novel mutation in the EVC2 gene in a Chinese family with Ellis-van Creveld syndrome.
    Zhang Z, Bao K, He JW, Fu WZ, Zhang CQ, Zhang ZL.
    Gene; 2012 Dec 15; 511(2):380-2. PubMed ID: 23026208
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  • 8. 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 15; 291(2):863-72. PubMed ID: 26621368
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  • 9. Truncation and microdeletion of EVC/EVC2 with missense mutation of EFCAB7 in Ellis-van Creveld syndrome.
    Nguyen TQ, Saitoh M, Trinh HT, Doan NM, Mizuno Y, Seki M, Sato Y, Ogawa S, Mizuguchi M.
    Congenit Anom (Kyoto); 2016 Sep 15; 56(5):209-16. PubMed ID: 26748586
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  • 10. Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.
    Ruiz-Perez VL, Ide SE, Strom TM, Lorenz B, Wilson D, Woods K, King L, Francomano C, Freisinger P, Spranger S, Marino B, Dallapiccola B, Wright M, Meitinger T, Polymeropoulos MH, Goodship J.
    Nat Genet; 2000 Mar 15; 24(3):283-6. PubMed ID: 10700184
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  • 13. Ellis-van Creveld syndrome and profound deafness resulted by sequence variants in the EVC/EVC2 and TMC1 genes.
    Umair M, Seidel H, Ahmed I, Ullah A, Haack TB, Alhaddad B, Jan A, Rafique A, Strom TM, Ahmad F, Meitinger T, Ahmad W.
    J Genet; 2017 Dec 15; 96(6):1005-1014. PubMed ID: 29321360
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