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Journal Abstract Search

180 related items for PubMed ID: 7218275

  • 21. Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome.
    Ruiz-Perez VL, Tompson SW, Blair HJ, Espinoza-Valdez C, Lapunzina P, Silva EO, Hamel B, Gibbs JL, Young ID, Wright MJ, Goodship JA.
    Am J Hum Genet; 2003 Mar; 72(3):728-32. PubMed ID: 12571802
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  • 27. Identification of Compound Heterozygous EVC2 Gene Variants in Two Mexican Families with Ellis-van Creveld Syndrome.
    Negrete-Torres N, Chima-Galán MDC, Sierra-López EA, Sánchez-Ramos J, Álvarez-González I, Reyes-Reali J, Mendoza-Ramos MI, Garrido-Guerrero E, Amato D, Méndez-Catalá CF, Pozo-Molina G, Méndez-Cruz AR.
    Genes (Basel); 2023 Apr 09; 14(4):. PubMed ID: 37107645
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  • 28. 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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  • 29. 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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  • 31. Ellis-Van Creveld syndrome: dental management considerations and description of a new oral finding.
    Hassona Y, Hamdan M, Shqaidef A, Abu Karaky A, Scully C.
    Spec Care Dentist; 2015 Dec 15; 35(6):312-5. PubMed ID: 25939880
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  • 35. 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 15; 77(4):291-5. PubMed ID: 12468274
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  • 36. Brief clinical report: chondroectodermal dysplasia (Ellis-van Creveld) with anomalies of CNS and urinary tract.
    Rosemberg S, Carneiro PC, Zerbini MC, Gonzalez CH.
    Am J Med Genet; 1983 Jun 15; 15(2):291-5. PubMed ID: 6881201
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  • 39. Ellis-van Creveld syndrome and the Amish.
    McKusick VA.
    Nat Genet; 2000 Mar 15; 24(3):203-4. PubMed ID: 10700162
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