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Journal Abstract Search

494 related items for PubMed ID: 15844783

  • 1. 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. PubMed ID: 15844783
    [Abstract] [Full Text] [Related]

  • 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. PubMed ID: 10700184
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  • 3. 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 Mar; 28(6):425-7. PubMed ID: 11155425
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  • 4. Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis.
    D'Asdia MC, Torrente I, Consoli F, Ferese R, Magliozzi M, Bernardini L, Guida V, Digilio MC, Marino B, Dallapiccola B, De Luca A.
    Eur J Med Genet; 2013 Feb; 56(2):80-7. PubMed ID: 23220543
    [Abstract] [Full Text] [Related]

  • 5. 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. PubMed ID: 9399901
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  • 6. 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; 155A(9):2131-6. PubMed ID: 21815252
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  • 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. PubMed ID: 10951528
    [Abstract] [Full Text] [Related]

  • 8. Oral manifestations of Ellis-van Creveld syndrome: report of two siblings with unusual dental anomalies.
    Hattab FN, Yassin OM, Sasa IS.
    J Clin Pediatr Dent; 1998 Aug; 22(2):159-65. PubMed ID: 9643193
    [Abstract] [Full Text] [Related]

  • 9. Oral manifestations in Ellis-van Creveld syndrome: report of five cases.
    Cahuana A, Palma C, Gonzáles W, Geán E.
    Pediatr Dent; 2004 Aug; 26(3):277-82. PubMed ID: 15185812
    [Abstract] [Full Text] [Related]

  • 10. 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 Aug; 19(4):387-95. PubMed ID: 19239082
    [Abstract] [Full Text] [Related]

  • 11. [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
    [Abstract] [Full Text] [Related]

  • 12. 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 01; 35(1):1-5. PubMed ID: 8661097
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  • 15. Ellis-van Creveld syndrome with facial hemiatrophy.
    Bhat YJ, Baba AN, Manzoor S, Qayoom S, Javed S, Ajaz H.
    Indian J Dermatol Venereol Leprol; 2010 Jul 01; 76(3):266-9. PubMed ID: 20445298
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  • 16. Polydactyly, conical teeth, nail dysplasia, and short limbs: a new autosomal dominant malformation syndrome.
    Curry CJ, Hall BD.
    Birth Defects Orig Artic Ser; 1979 Jul 01; 15(5B):253-63. PubMed ID: 526581
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  • 17. Discordance for Ellis-van Creveld syndrome in twins.
    Thapa R, Mukhopadhyay M, Bhattacharya A.
    Singapore Med J; 2008 Dec 01; 49(12):e369-71. PubMed ID: 19122938
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  • 18. Correction of polydactyly in patients with Ellis-van Creveld syndrome: a report of two cases.
    Desbonnez E, de Gheldere A, Barbier O, Docquier PL.
    Acta Orthop Belg; 2008 Aug 01; 74(4):550-2. PubMed ID: 18811044
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