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Volumn 79, Issue 2, 2002, Pages 177-180

Arterial hypertension in a child with williams-beuren syndrome (7q11.23 chromosomal deletion)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 7; CHROMOSOME DELETION; CONGENITAL MALFORMATION; GENETICS; HEART CATHETERIZATION; HUMAN; HYPERTENSION; KIDNEY ARTERY STENOSIS; MALE; PATHOPHYSIOLOGY; THORACIC AORTA; WILLIAMS BEUREN SYNDROME;

EID: 11244323476     PISSN: 0066782X     EISSN: None     Source Type: Journal    
DOI: 10.1590/s0066-782x2002001100009     Document Type: Article
Times cited : (3)

References (8)
  • 1
    • 0030469498 scopus 로고    scopus 로고
    • Williams Beuren syndrome: Phenotypic variability and deletions of chromossomes 7, 11, and 22 in a series of 52 patients
    • Joyce CA, Zorich B, Pike SJ, Barber JC, Dennis NR. Williams Beuren syndrome: phenotypic variability and deletions of chromossomes 7, 11, and 22 in a series of 52 patients. J Med Genet 1996; 33: 986-92.
    • (1996) J Med Genet , vol.33 , pp. 986-992
    • Joyce, C.A.1    Zorich, B.2    Pike, S.J.3    Barber, J.C.4    Dennis, N.R.5
  • 2
    • 0031886974 scopus 로고    scopus 로고
    • A duplicated gene in the breakpoint regions of the 7q11.23 Williams Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK
    • Jurado LAP, Wang Y, Peoples R, Coloma A, Cruces J, Francke U. A duplicated gene in the breakpoint regions of the 7q11.23 Williams Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK. Hum Mol Genet 1998; 7: 325-34.
    • (1998) Hum Mol Genet , vol.7 , pp. 325-334
    • Jurado, L.A.P.1    Wang, Y.2    Peoples, R.3    Coloma, A.4    Cruces, J.5    Francke, U.6
  • 3
    • 0029073758 scopus 로고
    • Phenotype of the Williams-Beuren syndrome associated with hemizygosity at the elastin locus
    • Kotzot D, Bernasconi F, Brecevis L, et al. Phenotype of the Williams-Beuren syndrome associated with hemizygosity at the elastin locus. Eur J Pediatr 1995; 154: 477-82.
    • (1995) Eur J Pediatr , vol.154 , pp. 477-482
    • Kotzot, D.1    Bernasconi, F.2    Brecevis, L.3
  • 4
    • 0032809129 scopus 로고    scopus 로고
    • Williams syndrome: An update on clinical and molecular aspects
    • Metcalfe K. Williams syndrome: an update on clinical and molecular aspects. Arch Dis Child 1999; 81: 198-200.
    • (1999) Arch Dis Child , vol.81 , pp. 198-200
    • Metcalfe, K.1
  • 6
    • 0027722128 scopus 로고
    • Williams syndrome: A middle-aged case of markedly delayed diagnosis
    • Matsumoto A, Nitta M, Niwa A, et al. Williams syndrome: a middle-aged case of markedly delayed diagnosis. Jpn Heart J 1993; 34: 653-9.
    • (1993) Jpn Heart J , vol.34 , pp. 653-659
    • Matsumoto, A.1    Nitta, M.2    Niwa, A.3
  • 7
    • 0027362797 scopus 로고
    • Williams syndrome: A clinical study of children and adults
    • Nicholson WR, Hockey KA. Williams syndrome: a clinical study of children and adults. J Paediatr Child Health 1993; 29: 468-72.
    • (1993) J Paediatr Child Health , vol.29 , pp. 468-472
    • Nicholson, W.R.1    Hockey, K.A.2
  • 8
    • 0022415774 scopus 로고
    • Splenorenal bypass in the treatment of renal artery stenosis: Experience with sixty-nine cases
    • Khauli RB, Novick AC, Ziegelbaum M. Splenorenal bypass in the treatment of renal artery stenosis: experience with sixty-nine cases. J Vasc Surg 1985; 2: 547-51.
    • (1985) J Vasc Surg , vol.2 , pp. 547-551
    • Khauli, R.B.1    Novick, A.C.2    Ziegelbaum, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.