메뉴 건너뛰기




Volumn 35, Issue 1, 1996, Pages 1-5

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

Author keywords

[No Author keywords available]

Indexed keywords

ACHONDROPLASIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRAZIL; CHROMOSOME 4P; CLINICAL FEATURE; CONGENITAL HEART DISEASE; DWARFISM; ELLIS VAN CREVELD SYNDROME; GENE FREQUENCY; GENE LOCATION; HUMAN; MAJOR CLINICAL STUDY; PATHOGENESIS; PEDIGREE ANALYSIS; POLYDACTYLY; PREVALENCE; PRIORITY JOURNAL; UNITED STATES;

EID: 0030201115     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.1996.0315     Document Type: Article
Times cited : (103)

References (17)
  • 1
    • 0001299041 scopus 로고
    • Chondroectodermal dysplasia (Ellis-van Creveld disease)
    • Caffey, J. (1952). Chondroectodermal dysplasia (Ellis-van Creveld disease). Am. J. Roentgenol. 68: 875.
    • (1952) Am. J. Roentgenol. , vol.68 , pp. 875
    • Caffey, J.1
  • 2
    • 0018965432 scopus 로고
    • Ellis van Creveld syndrome: Report of 15 cases in an inbred kindred
    • Da Silva, E. O., Janovitz, D., and DeAlbuquerqe, S. C. (1980). Ellis van Creveld syndrome: Report of 15 cases in an inbred kindred. J. Med. Genet. 17: 349-356.
    • (1980) J. Med. Genet. , vol.17 , pp. 349-356
    • Da Silva, E.O.1    Janovitz, D.2    DeAlbuquerqe, S.C.3
  • 5
    • 84906418947 scopus 로고
    • A syndrome characterized by ectodermal dysplasia, polydactyly, chondrodysplasia and congenital morbus cordis
    • Ellis, R. W. B., and van Creveld, S. (1940). A syndrome characterized by ectodermal dysplasia, polydactyly, chondrodysplasia and congenital morbus cordis. Arch. Dis. Child. 15: 65.
    • (1940) Arch. Dis. Child. , vol.15 , pp. 65
    • Ellis, R.W.B.1    Van Creveld, S.2
  • 7
    • 0001383919 scopus 로고
    • Single atrium and the Ellis-van Creveld syndrome
    • Gitkis, F. L. (1963). Single atrium and the Ellis-van Creveld syndrome. J. Pediatr. 62: 558.
    • (1963) J. Pediatr. , vol.62 , pp. 558
    • Gitkis, F.L.1
  • 8
    • 0026787318 scopus 로고
    • Ellis van Creveld syndrome in a Western Australian aboriginal community: Postaxial polydactyly as a heterozygous manifestation?
    • Goldblatt, J., Minutillo, C., Pemberton, D. J., and Hurst, J. (1992). Ellis van Creveld syndrome in a Western Australian aboriginal community: Postaxial polydactyly as a heterozygous manifestation? Med. J. Aust. 157: 271-272.
    • (1992) Med. J. Aust. , vol.157 , pp. 271-272
    • Goldblatt, J.1    Minutillo, C.2    Pemberton, D.J.3    Hurst, J.4
  • 10
    • 0025361004 scopus 로고
    • The human homeobox gene HOX7 maps to chromosome 4p16.1 and may be implicated in Wolf-Hirschorn syndrome
    • Ivens, A., Flavin, N., Williamson, R., Dixon, M., Bates, G., Buckingham, M., and Robert, B. (1990). The human homeobox gene HOX7 maps to chromosome 4p16.1 and may be implicated in Wolf-Hirschorn syndrome. Hum. Genet. 84: 473-476.
    • (1990) Hum. Genet. , vol.84 , pp. 473-476
    • Ivens, A.1    Flavin, N.2    Williamson, R.3    Dixon, M.4    Bates, G.5    Buckingham, M.6    Robert, B.7
  • 13
    • 0000396344 scopus 로고
    • Evidence for a hereditary factor in chondroectodermal dysplasia (Ellis-van Creveld syndrome)
    • Metrakos, J. D., and Fraser, F. C. (1954). Evidence for a hereditary factor in chondroectodermal dysplasia (Ellis-van Creveld syndrome). Am. J. Hum. Genet. 6: 260-269.
    • (1954) Am. J. Hum. Genet. , vol.6 , pp. 260-269
    • Metrakos, J.D.1    Fraser, F.C.2
  • 14
    • 0027964261 scopus 로고
    • Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia
    • Shiang, R., Thompson, L. M., Zhu, Y. Z., Church, D. M., Fielder, T. J., Bocian, M., Winckur, S. T., and Wasmuth, J. J. (1994). Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell 78: 335-342.
    • (1994) Cell , vol.78 , pp. 335-342
    • Shiang, R.1    Thompson, L.M.2    Zhu, Y.Z.3    Church, D.M.4    Fielder, T.J.5    Bocian, M.6    Winckur, S.T.7    Wasmuth, J.J.8
  • 15
    • 0026480896 scopus 로고
    • Identification and genetic mapping of a homeobox gene to the 4p16.1 region of human chromosome 4
    • Stadler, H. S., Padanilam, K., Buetow, J. C., Murray, J. C., and Solursh, M. (1992). Identification and genetic mapping of a homeobox gene to the 4p16.1 region of human chromosome 4. Proc. Natl. Acad. Sci. USA 89: 11579-11583.
    • (1992) Proc. Natl. Acad. Sci. USA , vol.89 , pp. 11579-11583
    • Stadler, H.S.1    Padanilam, K.2    Buetow, J.C.3    Murray, J.C.4    Solursh, M.5
  • 16
    • 0000687839 scopus 로고
    • Congenital heart disease in an adult with the Ellis-van Creveld syndrome
    • Tubbs, F. E., Crevasse, L., and Green, L. R., Jr. (1962). Congenital heart disease in an adult with the Ellis-van Creveld syndrome. N. Engl. J. Med. 57: 829.
    • (1962) N. Engl. J. Med. , vol.57 , pp. 829
    • Tubbs, F.E.1    Crevasse, L.2    Green, L.R.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.