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Volumn 117, Issue 1, 2017, Pages 359-362

Infantile spasms in Williams–Beuren syndrome with typical deletions of the 7q11.23 critical region and a review of the literature

Author keywords

[No Author keywords available]

Indexed keywords

VIGABATRIN; CORTICOTROPIN; HORMONE;

EID: 84964043759     PISSN: 03009009     EISSN: 22402993     Source Type: Journal    
DOI: 10.1007/s13760-016-0635-0     Document Type: Letter
Times cited : (7)

References (7)
  • 1
    • 84955472591 scopus 로고    scopus 로고
    • Epilepsy is a possible feature in Williams–Beuren syndrome patients harboring typical deletions of the 7q11.23 critical region
    • Nicita F, Garone G, Spalice A et al (2015) Epilepsy is a possible feature in Williams–Beuren syndrome patients harboring typical deletions of the 7q11.23 critical region. Am J Med Genet A 170(1):148-155
    • (2015) Am J Med Genet , vol.170 , Issue.1 , pp. 148-155
    • Nicita, F.1    Garone, G.2    Spalice, A.3
  • 2
    • 84947496226 scopus 로고    scopus 로고
    • De novo R853Q mutation of SCN2A gene and West syndrome
    • Samanta D, Ramakrishnaiah R (2015) De novo R853Q mutation of SCN2A gene and West syndrome. Acta Neurol 115(4):773–776
    • (2015) Acta Neurol , vol.115 , Issue.4 , pp. 773-776
    • Samanta, D.1    Ramakrishnaiah, R.2
  • 3
    • 0030971122 scopus 로고    scopus 로고
    • Infantile spasms in two children with Williams syndrome
    • COI: 1:STN:280:DyaK2szlvVKksQ%3D%3D, PID: 9215769
    • Tsao CY, Westman JA (1997) Infantile spasms in two children with Williams syndrome. Am J Med Genet 71:54–56
    • (1997) Am J Med Genet , vol.71 , pp. 54-56
    • Tsao, C.Y.1    Westman, J.A.2
  • 4
    • 14044258486 scopus 로고    scopus 로고
    • Williams–Beuren syndrome and West “syndrome”: causal association or contiguous gene deletion syndrome?
    • PID: 15633183
    • Tercero MF, Cabrera López JC, Herrero MM, Rodríguez-Quiñones F (2005) Williams–Beuren syndrome and West “syndrome”: causal association or contiguous gene deletion syndrome? Am J Med Genet A 133A:213–215
    • (2005) Am J Med Genet A , vol.133A , pp. 213-215
    • Tercero, M.F.1    Cabrera López, J.C.2    Herrero, M.M.3    Rodríguez-Quiñones, F.4
  • 5
    • 10744229708 scopus 로고    scopus 로고
    • Infantile spasms in a patient with Williams syndrome and craniosynostosis
    • PID: 14636357
    • Morimoto M, An B, Ogami A et al (2003) Infantile spasms in a patient with Williams syndrome and craniosynostosis. Epilepsia 44:1459–1462
    • (2003) Epilepsia , vol.44 , pp. 1459-1462
    • Morimoto, M.1    An, B.2    Ogami, A.3
  • 7
    • 0031608062 scopus 로고    scopus 로고
    • Interstitial deletion of chromosome 7q in a patient with Williams syndrome and infantile spasms
    • COI: 1:STN:280:DyaK1cvhvFWltQ%3D%3D, PID: 9747030
    • Mizugishi K, Yamanaka K, Kuwajima K, Kondo I (1998) Interstitial deletion of chromosome 7q in a patient with Williams syndrome and infantile spasms. J Hum Genet 43:178–181
    • (1998) J Hum Genet , vol.43 , pp. 178-181
    • Mizugishi, K.1    Yamanaka, K.2    Kuwajima, K.3    Kondo, I.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.