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Volumn 81, Issue 6, 1999, Pages 513-514

Towards earlier diagnosis of 22q11 deletions

Author keywords

22q11 microdeletions; CATCH 22; DiGeorge syndrome; Tetralogy of Fallot; Velocardiofacial

Indexed keywords

ARTICLE; CHROMOSOME 22Q; CHROMOSOME DELETION; CONGENITAL HEART DISEASE; DIGEORGE SYNDROME; FACE DYSMORPHIA; FINGER MALFORMATION; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HYPOPLASIA; MAJOR CLINICAL STUDY; PALATE MALFORMATION; PRIORITY JOURNAL; THYMUS APLASIA; VELOCARDIOFACIAL SYNDROME;

EID: 0032747017     PISSN: 00039888     EISSN: 14682044     Source Type: Journal    
DOI: 10.1136/adc.81.6.513     Document Type: Article
Times cited : (49)

References (6)
  • 2
    • 16944364251 scopus 로고    scopus 로고
    • Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients
    • 2 Carlson C, Sirotkin H, Pandita R, et al. Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients. Am J Hum Genet 1997;61:620-9.
    • (1997) Am J Hum Genet , vol.61 , pp. 620-629
    • Carlson, C.1    Sirotkin, H.2    Pandita, R.3
  • 3
    • 0026688328 scopus 로고
    • Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome
    • 3 Carey AH, Kelly D, Halford S, et al. Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome. Am J Hum Genet 1992;51:964-70.
    • (1992) Am J Hum Genet , vol.51 , pp. 964-970
    • Carey, A.H.1    Kelly, D.2    Halford, S.3
  • 4
    • 16944364802 scopus 로고    scopus 로고
    • Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: A European collaborative study
    • 4 Ryan AK, Goodship JA, Wilson DI, et al. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet 1997;34:798-804.
    • (1997) J Med Genet , vol.34 , pp. 798-804
    • Ryan, A.K.1    Goodship, J.A.2    Wilson, D.I.3
  • 5
    • 0029849619 scopus 로고    scopus 로고
    • Familial DiGeorge/velocardiofacial syndrome with deletions of chromosome area 22q11.2: Report of five families with a review of the literature
    • 5 Leana-Cox J, Pangkanon S, Eanet KR, Curtin MS, Wulfsberg EA. Familial DiGeorge/velocardiofacial syndrome with deletions of chromosome area 22q11.2: report of five families with a review of the literature. Am J Med Genet 1996,65:309-16.
    • (1996) Am J Med Genet , vol.65 , pp. 309-316
    • Leana-Cox, J.1    Pangkanon, S.2    Eanet, K.R.3    Curtin, M.S.4    Wulfsberg, E.A.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.