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Volumn 152, Issue 2, 2010, Pages 434-437

Deletion of 7q11.21-q11.23 and infantile spasms without deletion of MAGI2

Author keywords

Deletion 7q11.23; Infantile spasms; MAGI2; Williams Beuren genetic syndrome

Indexed keywords

AORTA SUBVALVULAR STENOSIS; ARTICLE; CHILD; CHROMOSOME 7Q; CHROMOSOME DELETION; CYTOGENETICS; FEMALE; GENE; HEART ATRIUM SEPTUM DEFECT; HEART VENTRICLE SEPTUM DEFECT; HEMIZYGOSITY; HUMAN; INFANTILE SPASM; KARYOTYPING; MAGI 2 GENE; MOLECULAR TYPING; PATHOGENESIS; PRESCHOOL CHILD; PRIORITY JOURNAL;

EID: 75449099063     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33220     Document Type: Article
Times cited : (26)

References (8)
  • 2
    • 46349099218 scopus 로고    scopus 로고
    • Marshall CR, Young EJ, Pani AM, Freckmann ML, Lacassie Y, Howald C, Fitzgerald KK, Peippo M, Morris CA, Shane K, Priolo M, Morimoto M, Kondo I, Manguoglu E, Berker-Karauzum S, Edery P, Hobart HH, Mervis CB, Zuffardi O, Reymond /SNM> A, Kaplan P, Tassabehji M, Gregg RG, Scherer SW, Osborne LR. 2008. Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11. Am J Hum Genet 83:106-111.
    • Marshall CR, Young EJ, Pani AM, Freckmann ML, Lacassie Y, Howald C, Fitzgerald KK, Peippo M, Morris CA, Shane K, Priolo M, Morimoto M, Kondo I, Manguoglu E, Berker-Karauzum S, Edery P, Hobart HH, Mervis CB, Zuffardi O, Reymond /SNM> A, Kaplan P, Tassabehji M, Gregg RG, Scherer SW, Osborne LR. 2008. Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11. Am J Hum Genet 83:106-111.
  • 3
    • 0031608062 scopus 로고    scopus 로고
    • Interstitial deletion of chromosome 7q in a patient with Williams syndrome and infantile spasms
    • 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
  • 7
    • 14044258486 scopus 로고    scopus 로고
    • Williams-Beuren syndrome and West "syndrome": Causal association or contiguous gene deletion syndrome?
    • Tercero MF, Cabrera Lopez JC, Herrero MM, Rodriguez-Quinones F. 2005. Williams-Beuren syndrome and West "syndrome": Causal association or contiguous gene deletion syndrome? Am J Med Genet Part A 133A: 213-215.
    • (2005) Am J Med Genet , vol.133 A , Issue.PART A , pp. 213-215
    • Tercero, M.F.1    Cabrera Lopez, J.C.2    Herrero, M.M.3    Rodriguez-Quinones, F.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.