메뉴 건너뛰기




Volumn 1, Issue 2, 1997, Pages 109-113

PCR assay for screening patients at risk for 22q11.2 deletion

Author keywords

[No Author keywords available]

Indexed keywords

PRIMER DNA;

EID: 0031292262     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/gte.1997.1.109     Document Type: Article
Times cited : (17)

References (24)
  • 1
    • 0028990403 scopus 로고
    • 22q11 deletions in isolated and syndromic patients with tetralogy of Fallot
    • AMATI, F., MARI, A., DIGILIO, M.C., ET AL. (1995). 22q11 deletions in isolated and syndromic patients with tetralogy of Fallot. Hum. Genet. 95, 479-482.
    • (1995) Hum. Genet. , vol.95 , pp. 479-482
    • Amati, F.1    Mari, A.2    Digilio, M.C.3
  • 2
    • 2842565141 scopus 로고    scopus 로고
    • Rimoin DL, Connor JM, Pyretz RE eds. (Churchill Livingstone, New York)
    • BURN, J. (1996). Principles and practices of medical genetics. Rimoin DL, Connor JM, Pyretz RE eds. (Churchill Livingstone, New York).
    • (1996) Principles and Practices of Medical Genetics
    • Burn, J.1
  • 4
    • 0026750771 scopus 로고
    • A genetic etiology for DiGeorge syndrome: Consistent deletions and microdeletions of 22q11
    • DRISCOLL, D.A., BUDARF, M.L., and EMANUEL, B.S. (1992a). A genetic etiology for DiGeorge syndrome: Consistent deletions and microdeletions of 22q11. Am. J. Hum. Genet. 50, 924-933.
    • (1992) Am. J. Hum. Genet. , vol.50 , pp. 924-933
    • Driscoll, D.A.1    Budarf, M.L.2    Emanuel, B.S.3
  • 6
    • 0027370619 scopus 로고
    • Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: Implications for genetic counselling and prenatal diagnosis
    • DRISCOLL, D.A., SALVIN, J., SELLINGER, B., BUDARF, M.L., MCDONALD-MCGINN, D.M., ZACKAI, E.H., and EMANUEL, B.S. (1993). Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: Implications for genetic counselling and prenatal diagnosis. J. Med. Genet. 30, 813-817.
    • (1993) J. Med. Genet. , vol.30 , pp. 813-817
    • Driscoll, D.A.1    Salvin, J.2    Sellinger, B.3    Budarf, M.L.4    Mcdonald-Mcginn, D.M.5    Zackai, E.H.6    Emanuel, B.S.7
  • 12
    • 2842541791 scopus 로고    scopus 로고
    • Population-based study of the frequency of 22q11 microdeletion among California infants with conotruncal cardiac defects and aortic arch anomalies
    • LAMMER, E., DRISCOLL, D., SHAW, G., and WASSERMAN, C. (1997). Population-based study of the frequency of 22q11 microdeletion among California infants with conotruncal cardiac defects and aortic arch anomalies. Proc. Greenwood Genetic Center 16, 181.
    • (1997) Proc. Greenwood Genetic Center , vol.16 , pp. 181
    • Lammer, E.1    Driscoll, D.2    Shaw, G.3    Wasserman, C.4
  • 13
    • 0028943334 scopus 로고
    • Submicroscopic deletions at 22q11.2: Variability of the clinical picture and delineation of a commonly deleted region
    • LINDSAY, E.A., GREENBERG, F., SHAFFER, L.G., SHAPIRA, S.K., SCAMBLER, P.J., and BALDINI, A. (1995). Submicroscopic deletions at 22q11.2: Variability of the clinical picture and delineation of a commonly deleted region. Am. J. Med. Genet., 56, 191-197.
    • (1995) Am. J. Med. Genet. , vol.56 , pp. 191-197
    • Lindsay, E.A.1    Greenberg, F.2    Shaffer, L.G.3    Shapira, S.K.4    Scambler, P.J.5    Baldini, A.6
  • 17
    • 0028797116 scopus 로고
    • Transposition of the great arteries associated with deletion of chromosome 22q11
    • MELCHIONDA, S., DIGLIO, M.C., MINGARELLI, R. ET AL. (1995). Transposition of the great arteries associated with deletion of chromosome 22q11. Am. J. Cardiol. 75, 95-98.
    • (1995) Am. J. Cardiol. , vol.75 , pp. 95-98
    • Melchionda, S.1    Diglio, M.C.2    Mingarelli, R.3
  • 21
    • 0028843726 scopus 로고
    • Frequency of a 22q11 deletion in patients with conotruncal cardiac malformations: A prospective study
    • TAKAHASHI, K., KIDO, S., HOSHINO, K., OGAWA, K., OHASHI, H., and FUKUSHIMA, Y. (1995). Frequency of a 22q11 deletion in patients with conotruncal cardiac malformations: A prospective study. Eur. J. Pediat. 154, 878-881.
    • (1995) Eur. J. Pediat. , vol.154 , pp. 878-881
    • Takahashi, K.1    Kido, S.2    Hoshino, K.3    Ogawa, K.4    Ohashi, H.5    Fukushima, Y.6
  • 23
    • 0029817469 scopus 로고    scopus 로고
    • Importance of microdeletions of chromosomal region 22q11 as a cause of selected malformations of the ventricular outflow tracts and aortic arch: A three-year prospective study
    • WEBBER, S.A., HATCHWELL, E.I., BARBERT, J.C.K. ET AL. (1996). Importance of microdeletions of chromosomal region 22q11 as a cause of selected malformations of the ventricular outflow tracts and aortic arch: A three-year prospective study. J. Pediat. 129, 26-32.
    • (1996) J. Pediat. , vol.129 , pp. 26-32
    • Webber, S.A.1    Hatchwell, E.I.2    Barbert, J.C.K.3
  • 24
    • 0026739254 scopus 로고
    • A prospective cytogenetic study of 36 cases of DiGeorge syndrome
    • WILSON, D.I., CROSS, I.E., GOODSHIP, J.A. ET AL. (1992). A prospective cytogenetic study of 36 cases of DiGeorge syndrome. Am. J. Hum. Genet. 51, 957-963.
    • (1992) Am. J. Hum. Genet. , vol.51 , pp. 957-963
    • Wilson, D.I.1    Cross, I.E.2    Goodship, J.A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.