메뉴 건너뛰기




Volumn 71, Issue 1, 1997, Pages 54-56

Infantile spasms in two children with Williams syndrome

Author keywords

Elastin gene; Hypsarrhythmia; Infantile spasms; Williams syndrome

Indexed keywords

AORTA SUPRAVALVULAR STENOSIS; ARTICLE; CASE REPORT; CHROMOSOME 7Q; DEVELOPMENTAL DISORDER; FACE MALFORMATION; FEMALE; GENE DELETION; HUMAN; HYPSARRHYTHMIA; INFANT; INFANTILE SPASM; MALE; MUSCLE HYPOTONIA; PRIORITY JOURNAL; PULMONARY VALVE STENOSIS; WILLIAMS BEUREN SYNDROME;

EID: 0030971122     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19970711)71:1<54::AID-AJMG10>3.0.CO;2-U     Document Type: Article
Times cited : (19)

References (17)
  • 2
    • 0020582843 scopus 로고
    • Infantile spasms and pertussis immunization
    • Bellman MH, Koss EM, Miller DL (1983): Infantile spasms and pertussis immunization. Lancei 1:1031-1034.
    • (1983) Lancei , vol.1 , pp. 1031-1034
    • Bellman, M.H.1    Koss, E.M.2    Miller, D.L.3
  • 3
    • 0025137740 scopus 로고
    • Neuropsychological, neurological, and neuroanatomical profile of Williams syndrome
    • Bellugi U, Bihrle A, Jernigan T, Trauner D, Doherty S (1990): Neuropsychological, neurological, and neuroanatomical profile of Williams syndrome. Am J Med Genet (Suppl 6):115-125.
    • (1990) Am J Med Genet Suppl , vol.6 , pp. 115-125
    • Bellugi, U.1    Bihrle, A.2    Jernigan, T.3    Trauner, D.4
  • 4
    • 0017819225 scopus 로고    scopus 로고
    • 197S: The Williams elfin faciès syndrome: the psychological profile as an aid in syndrome identification
    • Bennett FC, LaVeck B, Sells CJ ;197S): The Williams elfin faciès syndrome: the psychological profile as an aid in syndrome identification. Pediatrics 61:303-306.
    • Pediatrics , vol.61 , pp. 303-306
    • Bennett, F.C.1    Laveck, B.2    Sells, C.J.3
  • 5
    • 0028157329 scopus 로고
    • Major patterns of human inheritance: Relevance to the epilepsies
    • Bird TD (1994): Major patterns of human inheritance: Relevance to the epilepsies. Epiiepsia 35:S2-S6.
    • (1994) Epiiepsia , vol.35
    • Bird, T.D.1
  • 6
    • 0024206463 scopus 로고
    • The Williams syndrome: Spectrum and significance of ocular findings
    • Greenberg F, Lewis RA (1988): The Williams syndrome: Spectrum and significance of ocular findings. Ophthalmology 95:1608-1612.
    • (1988) Ophthalmology , vol.95 , pp. 1608-1612
    • Lewis Ra, G.F.1
  • 7
    • 0016689490 scopus 로고
    • The Williams elfin facies syndrome: A newperspective
    • Jones KL, Smith PW (1975): The Williams elfin facies syndrome: A newperspective. J Pediatr 86:718-723.
    • (1975) J Pediatr , vol.86 , pp. 718-723
    • Smith Pw, J.K.L.1
  • 8
    • 0343972650 scopus 로고
    • Microscopically visible deletion of chromosome 7 in a cm'ld with features of Williams syndrome
    • Kahler SG, Adhvaryu SO, Helali N, and Qumsiyeh MB (1995): Microscopically visible deletion of chromosome 7 in a cm'ld with features of Williams syndrome. Am J Hum Genet 57:A117.
    • (1995) Am J Hum Genet , vol.57
    • Kahler, S.G.1    Adhvaryu, S.O.2    Helali, N.3    Qumsiyeh, M.B.4
  • 10
    • 0017337116 scopus 로고
    • Infantile spasms and early immunization against hooping cough: Danish survey from 1970 to 1975
    • Melchior JC (1977): Infantile spasms and early immunization against hooping cough: Danish survey from 1970 to 1975. Arch Dis Child 52:134-137.
    • (1977) Arch Dis Child , vol.52 , pp. 134-137
    • Melchior, J.C.1
  • 11
    • 0023688145 scopus 로고
    • Natural history of Williams syndrome: Physical characteristics
    • Morris C, Demaey S, Leonard C, Dilts C, Blackburn B (1988): Natural history of Williams syndrome: physical characteristics. J Pediatr 113: 318-326.
    • (1988) J Pediatr , vol.113 , pp. 318-326
    • Morris, C.1    Demaey, S.2    Leonard, C.3    Dilts, C.4    Blackburn, B.5
  • 12
  • 14
    • 0025368281 scopus 로고
    • Myocionic epilepsy and ragged-red fiber disease (MERRF is associated with a mitochondrial DNA tRNAlys mutation
    • Shoffner JM, Lott MT, Lezza AMS, Seibei P, Ballinger SW, Wallace DC (1990): Myocionic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNAlys mutation. Cell 61:931937.
    • (1990) Cell , vol.61 , pp. 931937
    • Shoffner, J.M.1    Lott, M.T.2    Lezza, A.M.S.3    Seibei, P.4    Ballinger, S.W.5    Wallace, D.C.6
  • 15
    • 0024348718 scopus 로고
    • Neurologic features of Williams and Down syndrome
    • Trauner D, Bcllugi U, Chase C (1989): Neurologic features of Williams and Down syndrome. Pediatr Neurol 5:166-168.
    • (1989) Pediatr Neurol , vol.5 , pp. 166-168
    • Trauner, D.1    Bcllugi, U.2    Chase, C.3
  • 16
    • 0027954609 scopus 로고
    • Mitochondrial DNA mutations in epilepsy and neurological disease
    • Wallace DC, Lott MT, Shoffner JM, and Bal.inger S (1994): Mitochondrial DNA mutations in epilepsy and neurological disease. Epiiepsia 35:S43S50.
    • (1994) Epiiepsia , vol.35
    • Wallace, D.C.1    Lott, M.T.2    Shoffner, J.M.3    Balinger, S.4
  • 17
    • 0001312219 scopus 로고
    • Supravalvular aortic stenosis
    • Williams JCP, Barratt-Boyes BG, Löwe JB ;1961): Supravalvular aortic stenosis. Circulation 24:1311-1318.
    • (1961) Circulation , vol.24 , pp. 1311-1318
    • Löwe Jb, W.J.B.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.