These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

283 related items for PubMed ID: 12571802

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. 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; 25(1):1-6. PubMed ID: 26580685
    [Abstract] [Full Text] [Related]

  • 4. 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; 2010 Apr; 52(2):240-6. PubMed ID: 19744229
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 7.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 8.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 9.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 10. [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]

  • 11.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 12.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 13.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 14.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 15.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 16. Phenotypic Variation in Patients with Homozygous c.1678G>T Mutation in EVC Gene: Report of Two Mexican Families with Ellis-van Creveld Syndrome.
    Ibarra-Ramirez M, Campos-Acevedo LD, Lugo-Trampe J, Martínez-Garza LE, Martinez-Glez V, Valencia-Benitez M, Lapunzina P, Ruiz-Peréz V.
    Am J Case Rep; 2017 Dec 12; 18():1325-1329. PubMed ID: 29229899
    [Abstract] [Full Text] [Related]

  • 17.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 18. 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 12; 96(6):1005-1014. PubMed ID: 29321360
    [Abstract] [Full Text] [Related]

  • 19. 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 12; 120(5):663-70. PubMed ID: 17024374
    [Abstract] [Full Text] [Related]

  • 20. 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 12; 119(1-2):199-205. PubMed ID: 16404586
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 15.