메뉴 건너뛰기




Volumn 33, Issue 7, 1996, Pages 603-606

Prenatal diagnosis in Treacher Collins syndrome using combined linkage analysis and ultrasound imaging

Author keywords

Human chromosome 5; Prenatal diagnosis; Treacher Collins syndrome

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; CLEFT PALATE; CONDUCTION DEAFNESS; DISEASE SEVERITY; FACE DEVELOPMENT; FEMALE; FIRST TRIMESTER PREGNANCY; GENETIC LINKAGE; HUMAN; HUMAN CELL; MALE; MANDIBULOFACIAL DYSOSTOSIS; NEWBORN; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; ULTRASOUND;

EID: 0030016204     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.33.7.603     Document Type: Article
Times cited : (47)

References (15)
  • 3
    • 0025963067 scopus 로고
    • Association of Treacher Collins syndrome and translocation 6p21.31/16p13.11: Exclusion of the locus from these candidate regions
    • Dixon MJ, Haan E, Baker E, et al. Association of Treacher Collins syndrome and translocation 6p21.31/16p13.11: exclusion of the locus from these candidate regions. Am J Hum Genet 1991;48:274-80.
    • (1991) Am J Hum Genet , vol.48 , pp. 274-280
    • Dixon, M.J.1    Haan, E.2    Baker, E.3
  • 5
    • 0026894214 scopus 로고
    • Genetic and physical mapping of the Treacher Collins syndrome locus. Refinement of the localization to chromosome 5q32-33.2
    • Dixon MJ, Dixon J, Raskova D, et al. Genetic and physical mapping of the Treacher Collins syndrome locus. Refinement of the localization to chromosome 5q32-33.2. Hum Mol Genet 1992;1:249-53.
    • (1992) Hum Mol Genet , vol.1 , pp. 249-253
    • Dixon, M.J.1    Dixon, J.2    Raskova, D.3
  • 6
    • 0027366186 scopus 로고
    • Narrowing the position of the Treacher Collins syndrome locus to a small interval between three new microsatellite markers at 5q32-33.1
    • Dixon MJ, Dixon J, Houseal T, et al. Narrowing the position of the Treacher Collins syndrome locus to a small interval between three new microsatellite markers at 5q32-33.1. Am J Hum Genet 1993;52:907-14.
    • (1993) Am J Hum Genet , vol.52 , pp. 907-914
    • Dixon, M.J.1    Dixon, J.2    Houseal, T.3
  • 8
    • 0027367330 scopus 로고
    • Genetic and physical mapping of the Treacher Collins syndrome locus with respect to loci in the chromosome 5q3 region
    • Jabs EW, Li X, Lovett M, et al. Genetic and physical mapping of the Treacher Collins syndrome locus with respect to loci in the chromosome 5q3 region. Genomics 1993;18:7-13.
    • (1993) Genomics , vol.18 , pp. 7-13
    • Jabs, E.W.1    Li, X.2    Lovett, M.3
  • 10
    • 0028068087 scopus 로고
    • Apparent genetic homogeneity of the Treacher Collins-Franceshetti syndrome
    • Edery P, Manach Y, Le Merrer M, et al. Apparent genetic homogeneity of the Treacher Collins-Franceshetti syndrome. Am J Med Genet 1994;52:174-7.
    • (1994) Am J Med Genet , vol.52 , pp. 174-177
    • Edery, P.1    Manach, Y.2    Le Merrer, M.3
  • 12
    • 0025964751 scopus 로고
    • Prenatal ultrasonic diagnosis of mandibulofacial dysostosis (Treacher Collins syndrome)
    • Meizner I, Carmi R, Katz M. Prenatal ultrasonic diagnosis of mandibulofacial dysostosis (Treacher Collins syndrome). J Clin Ultrasound 1991;19:124-7.
    • (1991) J Clin Ultrasound , vol.19 , pp. 124-127
    • Meizner, I.1    Carmi, R.2    Katz, M.3
  • 13
    • 0028326410 scopus 로고
    • Recurrence of Treacher Collins syndrome with sonographic findings
    • Milligan DA, Harlass FE, Duff P, Kopelman JN. Recurrence of Treacher Collins syndrome with sonographic findings. Mil Med 1994;159:250-2.
    • (1994) Mil Med , vol.159 , pp. 250-252
    • Milligan, D.A.1    Harlass, F.E.2    Duff, P.3    Kopelman, J.N.4
  • 14
    • 0021012474 scopus 로고
    • Fetoscopy and fetal tissue sampling
    • Rodeck CH, Nicolaides KH. Fetoscopy and fetal tissue sampling. Br Med Bull 1983;39:332-7.
    • (1983) Br Med Bull , vol.39 , pp. 332-337
    • Rodeck, C.H.1    Nicolaides, K.H.2
  • 15
    • 0025157834 scopus 로고
    • Informativeness of human (dC-dA)n.(dG.dT)n polymorphisms
    • Weber JL. Informativeness of human (dC-dA)n.(dG.dT)n polymorphisms. Genomics 1990;7:524-30.
    • (1990) Genomics , vol.7 , pp. 524-530
    • Weber, J.L.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.