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Volumn 5, Issue 10, 1999, Pages 1120-1121

Getting to the heart of DiGeorge syndrome

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL EXPERIMENT; CHICK EMBRYO; CHROMOSOME 22Q; CHROMOSOME DELETION; DIGEORGE SYNDROME; EMBRYO; EMBRYO DEVELOPMENT; GENETIC LINKAGE; HEART DEVELOPMENT; NERVOUS SYSTEM DEVELOPMENT; NEURAL CREST; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL; SHORT SURVEY;

EID: 0032829499     PISSN: 10788956     EISSN: None     Source Type: Journal    
DOI: 10.1038/13438     Document Type: Short Survey
Times cited : (8)

References (11)
  • 1
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    • A common molecular basis for rearrangement disorders on chromosome 22q11
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    • L. Edelmann, R.K, et al. A common molecular basis for rearrangement disorders on chromosome 22q11. Hum. Mol. Genet. 8: 1157-1167 (1999).
    • (1999) Hum. Mol. Genet. , vol.8 , pp. 1157-1167
    • Edelmann, L.1
  • 2
    • 0033598389 scopus 로고    scopus 로고
    • Congenital heart disease in mice deficient for the DiGeorge syndrome region
    • Lindsay, E. A. et al. Congenital heart disease in mice deficient for the DiGeorge syndrome region. Nature 401 379-383.
    • Nature , vol.401 , pp. 379-383
    • Lindsay, E.A.1
  • 3
    • 0029142767 scopus 로고
    • Neural crest and cardiovascular patterning
    • M. L. Kirby & K. L. Waldo. Neural crest and cardiovascular patterning. Circ. Res. 77 211-215 (1995).
    • (1995) Circ. Res. , vol.77 , pp. 211-215
    • Kirby, M.L.1    Waldo, K.L.2
  • 4
    • 17444434198 scopus 로고    scopus 로고
    • Frequency of 22q11 deletions in patients with conotruncal defects
    • Goldmuntz, E. et al. Frequency of 22q11 deletions in patients with conotruncal defects. J. Am. Coll. Cordial. 32 492-498 (1998).
    • (1998) J. Am. Coll. Cordial. , vol.32 , pp. 492-498
    • Goldmuntz, E.1
  • 5
    • 0033524662 scopus 로고    scopus 로고
    • HIRA, a DiGeorge syndrome candidate gene, is required for cardiac outflow tract septation
    • Farrell, M.J. et al. HIRA, a DiGeorge syndrome candidate gene, is required for cardiac outflow tract septation. Circ. Res. 84 127-135 (1999).
    • (1999) Circ. Res. , vol.84 , pp. 127-135
    • Farrell, M.J.1
  • 6
    • 0003638339 scopus 로고    scopus 로고
    • Hira, a gene from the DGS/VCFS region, is required for normal embryogenesis
    • Scambler, P. et al. Hira, a gene from the DGS/VCFS region, is required for normal embryogenesis. Am. J. Hum. Genet. 63 A7 (1998)
    • (1998) Am. J. Hum. Genet. , vol.63
    • Scambler, P.1
  • 7
    • 0033582626 scopus 로고    scopus 로고
    • A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects
    • Yamagishi, H., Garg, V., Matsuoka, R., Thomas, T., & Srivastava, D. A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects. Science 283 1158-1161 (1999).
    • (1999) Science , vol.283 , pp. 1158-1161
    • Yamagishi, H.1    Garg, V.2    Matsuoka, R.3    Thomas, T.4    Srivastava, D.5
  • 8
    • 0033362101 scopus 로고    scopus 로고
    • Mutations of UFD1L are not responsible for the majority of cases of DiGeorge syndrome/velocardiofacial syndrome without deletions within chromosome 22q11
    • Wadey, R. et al. Mutations of UFD1L Are not responsible for the majority of cases of DiGeorge syndrome/velocardiofacial syndrome without deletions within chromosome 22q11. Am. J. Hum. Genet. 65 247-249 (1999).
    • (1999) Am. J. Hum. Genet. , vol.65 , pp. 247-249
    • Wadey, R.1
  • 9
    • 13144267719 scopus 로고    scopus 로고
    • Comparative mapping of the human 22q11 chromosomal region and the orthologous region in mice reveals complex changes in gene organization
    • Puech, A. et al. Comparative mapping of the human 22q11 chromosomal region and the orthologous region in mice reveals complex changes in gene organization. Proc. Natl. Acad. Sci. USA 94 14608-14613 (1997).
    • (1997) Proc. Natl. Acad. Sci. USA , vol.94 , pp. 14608-14613
    • Puech, A.1
  • 10
    • 0032769144 scopus 로고    scopus 로고
    • Patient with a 22q11.2 deletion with no overlap of the minimal DiGeorge syndrome critical region (MDGCR)
    • McQuade, L. et al. Patient with a 22q11.2 deletion with no overlap of the minimal DiGeorge syndrome critical region (MDGCR). Am. J. Med. Genet. 86 27-33 (1999).
    • (1999) Am. J. Med. Genet. , vol.86 , pp. 27-33
    • McQuade, L.1
  • 11
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    • The genetic basis of conotruncal defects: The chromosome 22q11.2 deletion, in heart
    • eds. R.P. Harvey and N. Rosenthal, Academic Press
    • Emanuel, B.S., Budarf, M.L. and Scambler, P.J. The genetic basis of conotruncal defects: The chromosome 22q11.2 deletion, in heart Development 179-193 eds. R.P. Harvey and N. Rosenthal, Academic Press, 1999).
    • (1999) Development , pp. 179-193
    • Emanuel, B.S.1    Budarf, M.L.2    Scambler, P.J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.