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Volumn 47, Issue 4, 2008, Pages 441-442

Prenatal diagnosis of DiGeorge syndrome

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; AUTOPSY; CASE REPORT; CESAREAN SECTION; CHROMOSOME 22Q; CHROMOSOME DELETION; CORDOCENTESIS; CYANOTIC HEART DISEASE; DIGEORGE SYNDROME; ECHOCARDIOGRAPHY; FALLOT TETRALOGY; FEMALE; FETUS; FETUS ECHOGRAPHY; FLUORESCENCE IN SITU HYBRIDIZATION; FOLLOW UP; GENETIC COUNSELING; HETEROZYGOSITY; HUMAN; HYDRAMNIOS; INFECTION; LUNG DISEASE; NEWBORN DEATH; PRENATAL DIAGNOSIS;

EID: 59149091942     PISSN: 10284559     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1028-4559(09)60014-0     Document Type: Article
Times cited : (2)

References (9)
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  • 2
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    • Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: Implications for genetic counselling and prenatal diagnosis
    • Driscoll DA, Salvin J, Sellinger B, Budarf ML, McDonald-McGinn DM, Zackai EH, Emanuel BS. Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis. J Med Genet 1993;30:813-7.
    • (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
  • 3
    • 0025721053 scopus 로고
    • Antenatal diagnosis of DiGeorge syndrome
    • Driscoll DA, Budarf ML, Emanuel BS. Antenatal diagnosis of DiGeorge syndrome. Lancet 1991;338:1390-1.
    • (1991) Lancet , vol.338 , pp. 1390-1391
    • Driscoll, D.A.1    Budarf, M.L.2    Emanuel, B.S.3
  • 4
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    • Variable phenotypes in velocardiofacial syndrome with chromosomal deletion
    • Motzkin B, Marion R, Goldberg R, Shprintzen R, Saenger P. Variable phenotypes in velocardiofacial syndrome with chromosomal deletion. J Pediatr 1993;123:406-10.
    • (1993) J Pediatr , vol.123 , pp. 406-410
    • Motzkin, B.1    Marion, R.2    Goldberg, R.3    Shprintzen, R.4    Saenger, P.5
  • 5
    • 0036889598 scopus 로고    scopus 로고
    • Chromosome 22q11.2 deletion syndrome (DiGeorge and velocardiofacial syndromes)
    • Perez E, Sullivan KE. Chromosome 22q11.2 deletion syndrome (DiGeorge and velocardiofacial syndromes). Curr Opin Pediatr 2002;14:678-83.
    • (2002) Curr Opin Pediatr , vol.14 , pp. 678-683
    • Perez, E.1    Sullivan, K.E.2
  • 6
    • 0141458167 scopus 로고    scopus 로고
    • Unraveling the genetic and developmental mysteries of 22q11 deletion syndrome
    • Yamagishi H, Srivastava D. Unraveling the genetic and developmental mysteries of 22q11 deletion syndrome. Trends Mol Med 2003;9:383-9.
    • (2003) Trends Mol Med , vol.9 , pp. 383-389
    • Yamagishi, H.1    Srivastava, D.2
  • 7
    • 59149096506 scopus 로고    scopus 로고
    • Clinical application of preimplantation genetic diagnosis (PGD) using fluorescence in situ hybridization to balanced reciprocal or Robertsonian translocation carriers in human IVF-ET program
    • Lim CK, Han MH, Jun JH, et al. Clinical application of preimplantation genetic diagnosis (PGD) using fluorescence in situ hybridization to balanced reciprocal or Robertsonian translocation carriers in human IVF-ET program. Korean J Obstet Gynecol 2000;43:1147-53.
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    • Frequent association of 22q11.2 deletion with tetralogy of Fallot
    • Maeda J, Yamagishi H, Matsuoka R, et al. Frequent association of 22q11.2 deletion with tetralogy of Fallot. Am J Med Genet 2000;92:269-72.
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.