메뉴 건너뛰기




Volumn 19, Issue 4, 2010, Pages 215-217

Agenesis of the corpus callosum in mosaic tetrasomy 8p

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CHILD DEVELOPMENT; CHROMOSOME 8P; CHROMOSOME G BAND; CORPUS CALLOSUM AGENESIS; FACIES; FETUS; HUMAN; INFANT; MALE; MOSAICISM; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NEWBORN; PRIORITY JOURNAL; TETRASOMY;

EID: 77957587110     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/MCD.0b013e32833c5efa     Document Type: Article
Times cited : (2)

References (14)
  • 1
    • 0027250654 scopus 로고
    • Mosaic tetrasomy 8p: Molecular cytogenetic confirmation and measurement of glutathione reductase and tissue plasminogen activator levels
    • Fisher AM, Barber JCK, Crolla JA, James RS, Lestas AN, Jennings I, Dennis NR (1993). Mosaic tetrasomy 8p: molecular cytogenetic confirmation and measurement of glutathione reductase and tissue plasminogen activator levels. Am J Med Genet 47:100-105.
    • (1993) Am. J. Med. Genet. , vol.47 , pp. 100-105
    • Fisher, A.M.1    Barber, J.C.K.2    Crolla, J.A.3    James, R.S.4    Lestas, A.N.5    Jennings, I.6    Dennis, N.R.7
  • 2
    • 0023786330 scopus 로고
    • Four copies of 8p in a mentally retarded boy with the mosaic karyotype 47, XY, + i (8p)/46, XY
    • Kristoffersson U, Lagergren J, Heim S, Mandahl N (1988). Four copies of 8p in a mentally retarded boy with the mosaic karyotype 47, XY, + i (8p)/46, XY. Clin Genet 34:201-203.
    • (1988) Clin. Genet. , vol.34 , pp. 201-203
    • Kristoffersson, U.1    Lagergren, J.2    Heim, S.3    Mandahl, N.4
  • 5
    • 0029143637 scopus 로고
    • Non-cardiac malformations in individuals with outflow tract defects of the heart: The Baltimore-Washington Infant Study (1981-1989)
    • Lurie IW, Kappetein AP, Loffredo CA, Ferencz C (1995). Non-cardiac malformations in individuals with outflow tract defects of the heart: the Baltimore-Washington Infant Study (1981-1989). Am J Med Genet 59:76-84.
    • (1995) Am. J. Med. Genet. , vol.59 , pp. 76-84
    • Lurie, I.W.1    Kappetein, A.P.2    Loffredo, C.A.3    Ferencz, C.4
  • 7
    • 0030723730 scopus 로고    scopus 로고
    • Complex congenital heart malformations in mosaic tetrasomy 8p: Case report and review of the literature
    • Napoleone RM, Varela M, Anderson HC (1997). Complex congenital heart malformations in mosaic tetrasomy 8p: case report and review of the literature. Am J Med Genet 73:330-333.
    • (1997) Am. J. Med. Genet. , vol.73 , pp. 330-333
    • Napoleone, R.M.1    Varela, M.2    Anderson, H.C.3
  • 9
    • 33646787451 scopus 로고    scopus 로고
    • Prenatal diagnosis of a mosaic supernumerary marker iso (8p) (tetrasomy 8p): Discordance between chorionic villi culture and amniotic fluid karyotypes
    • Nucaro AL, Rossino R, Pruna D, Rassu S, Cianchetti C, Cao A, Moi P (2006). Prenatal diagnosis of a mosaic supernumerary marker iso (8p) (tetrasomy 8p): discordance between chorionic villi culture and amniotic fluid karyotypes. Prenat Diagn 26:418-419.
    • (2006) Prenat Diagn , vol.26 , pp. 418-419
    • Nucaro, A.L.1    Rossino, R.2    Pruna, D.3    Rassu, S.4    Cianchetti, C.5    Cao, A.6    Moi, P.7
  • 11
    • 0025062739 scopus 로고
    • Congenital cardiovascular malformations (CCVM) and structural chromosomal abnormalities: A report of 9 cases and literature review
    • Roskes EJ, Boughman JA, Schwarz S, Cohen MM (1990). Congenital cardiovascular malformations (CCVM) and structural chromosomal abnormalities: a report of 9 cases and literature review. Clin Genet 38:198-210.
    • (1990) Clin. Genet. , vol.38 , pp. 198-210
    • Roskes, E.J.1    Boughman, J.A.2    Schwarz, S.3    Cohen, M.M.4
  • 14
    • 0028829609 scopus 로고
    • Mosaic tetrasomy 8p: Case report and review of the literature
    • Winters J, Markello T, Nance W, Jackson-Cook C (1995). Mosaic tetrasomy 8p: case report and review of the literature. Clin Genet 48:195-198.
    • (1995) Clin. Genet. , vol.48 , pp. 195-198
    • Winters, J.1    Markello, T.2    Nance, W.3    Jackson-Cook, C.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.