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    Results: 1 to 20 of 353

    1.

    Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene.

    Ulucan H, Gül D, Sapp JC, Cockerham J, Johnston JJ, Biesecker LG.

    BMC Med Genet. 2008 Oct 23;9:92.PMID: 18947413 [PubMed - indexed for MEDLINE]Related articlesFree article

    2.

    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;24(3):283-6. Erratum in: Nat Genet 2000 May;25(1):125. PMID: 10700184 [PubMed - indexed for MEDLINE]Related articles

    3.

    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. Review.PMID: 19876929 [PubMed - indexed for MEDLINE]Related articles

    4.

    Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to chromosome 4p16, in the region containing the Ellis-van Creveld syndrome locus.

    Howard TD, Guttmacher AE, McKinnon W, Sharma M, McKusick VA, Jabs EW.

    Am J Hum Genet. 1997 Dec;61(6):1405-12.PMID: 9399901 [PubMed - indexed for MEDLINE]Related articlesFree article

    5.

    A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis.

    Ye X, Song G, Fan M, Shi L, Jabs EW, Huang S, Guo R, Bian Z.

    Hum Genet. 2006 Mar;119(1-2):199-205. Epub 2006 Jan 11.PMID: 16404586 [PubMed - indexed for MEDLINE]Related articles

    6.

    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. Epub 2003 Feb 4.PMID: 12571802 [PubMed - indexed for MEDLINE]Related articlesFree article

    7.

    Exclusion of the Ellis-van Creveld region on chromosome 4p16 in some families with asphyxiating thoracic dystrophy and short-rib polydactyly syndromes.

    Krakow D, Salazar D, Wilcox WR, Rimoin DL, Cohn DH.

    Eur J Hum Genet. 2000 Aug;8(8):645-8.PMID: 10951528 [PubMed - indexed for MEDLINE]Related articlesFree article

    8.

    A novel missense mutation in the EVC gene underlies Ellis-van Creveld syndrome in a Pakistani family.

    Umm-e-Kalsoom, Wasif N, Tariq M, Ahmad W.

    Pediatr Int. 2009 Sep 7. [Epub ahead of print]PMID: 19744229 [PubMed - as supplied by publisher]Related articles

    9.

    [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. Review. Dutch. PMID: 15884406 [PubMed - indexed for MEDLINE]Related articles

    10.

    Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients.

    Tompson SW, Ruiz-Perez VL, Blair HJ, Barton S, Navarro V, Robson JL, Wright MJ, Goodship JA.

    Hum Genet. 2007 Jan;120(5):663-70. Epub 2006 Sep 21.PMID: 17024374 [PubMed - indexed for MEDLINE]Related articles

    11.

    Unusual pattern of inheritance and orodental changes in the Ellis-van Creveld syndrome.

    Mostafa MI, Temtamy SA, el-Gammal MA, Mazen IM.

    Genet Couns. 2005;16(1):75-83.PMID: 15844783 [PubMed - indexed for MEDLINE]Related articles

    12.

    Ellis-van Creveld syndrome.

    Baujat G, Le Merrer M.

    Orphanet J Rare Dis. 2007 Jun 4;2:27. Review.PMID: 17547743 [PubMed - indexed for MEDLINE]Related articlesFree article

    13.

    Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in Ellis-van Creveld syndrome with borderline intelligence.

    Temtamy SA, Aglan MS, Valencia M, Cocchi G, Pacheco M, Ashour AM, Amr KS, Helmy SM, El-Gammal MA, Wright M, Lapunzina P, Goodship JA, Ruiz-Perez VL.

    Hum Mutat. 2008 Jul;29(7):931-8.PMID: 18454448 [PubMed - indexed for MEDLINE]Related articles

    14.

    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.PMID: 12468274 [PubMed - indexed for MEDLINE]Related articles

    15.

    A Turkish family with Ellis-van Creveld syndrome in six siblings; linkage analysis on 4p16 region (D4S3360-D4S2366).

    Cağdaş DN, Parlar AI, Pac A, Tutun U, Balci S.

    Genet Couns. 2008;19(4):387-95.PMID: 19239082 [PubMed - indexed for MEDLINE]Related articles

    16.

    Ellis van Creveld syndrome (chondroectodermal dysplasia, MIM 22550) in three siblings from a non-consanguineous mating.

    George E, DeSilva S, Lieber E, Raziuddin K, Gudavalli M.

    J Perinat Med. 2000;28(6):425-7.PMID: 11155425 [PubMed - indexed for MEDLINE]Related articles

    17.

    The gene for the Ellis-van Creveld syndrome is located on chromosome 4p16.

    Polymeropoulos MH, Ide SE, Wright M, Goodship J, Weissenbach J, Pyeritz RE, Da Silva EO, Ortiz De Luna RI, Francomano CA.

    Genomics. 1996 Jul 1;35(1):1-5.PMID: 8661097 [PubMed - indexed for MEDLINE]Related articles

    18.

    Exclusion of the MSX1 homeobox gene as the gene for the Ellis van Creveld syndrome in the Amish.

    Ide SE, Ortiz de Luna RI, Francomano CA, Polymeropoulos MH.

    Hum Genet. 1996 Nov;98(5):572-5.PMID: 8882877 [PubMed - indexed for MEDLINE]Related articles

    19.

    Analysis of Ellis van Creveld syndrome gene products: implications for cardiovascular development and disease.

    Sund KL, Roelker S, Ramachandran V, Durbin L, Benson DW.

    Hum Mol Genet. 2009 May 15;18(10):1813-24. Epub 2009 Feb 27.PMID: 19251731 [PubMed - indexed for MEDLINE]Related articles

    20.

    Discordance for Ellis-van Creveld syndrome in twins.

    Thapa R, Mukhopadhyay M, Bhattacharya A.

    Singapore Med J. 2008 Dec;49(12):e369-71.PMID: 19122938 [PubMed - indexed for MEDLINE]Related articlesFree article

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