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Volumn 16, Issue 3, 2007, Pages 135-140

Further delineation of interstitial chromosome 6 deletion syndrome and review of the literature

Author keywords

Chromosome 6; Comparative genomic hybridization; Congenital anomalies; Ectrodactyly; Interstitial deletion

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 6; COMPARATIVE GENOMIC HYBRIDIZATION; CORRELATION ANALYSIS; CYTOGENETICS; ECTRODACTYLY; FACE DYSMORPHIA; FALLOT TETRALOGY; FEMALE; GENE DELETION; GENE SEQUENCE; GENOTYPE; HUMAN; INTERSTITIAL CHROMOSOME 6 DELETION SYNDROME; INTERSTITIAL CHROMOSOME DELETION; LITERATURE; NEWBORN; PHENOTYPE; PRIORITY JOURNAL;

EID: 34250006238     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/MCD.0b013e3281e668d5     Document Type: Article
Times cited : (14)

References (16)
  • 1
    • 0035828196 scopus 로고    scopus 로고
    • Identification of connexin-43 (alpha-1) gap junction gene mutations in patients withhypoplastic left heart syndrome by denaturing fradient gel electrophoresis (DGGE)
    • Dasgupta C, Martinez A-M, Zuppan CW, Shah MM, Bailey LL, Fletcher WH (2001). Identification of connexin-43 (alpha-1) gap junction gene mutations in patients withhypoplastic left heart syndrome by denaturing fradient gel electrophoresis (DGGE). Mutat Res 479:173-186.
    • (2001) Mutat Res , vol.479 , pp. 173-186
    • Dasgupta, C.1    Martinez, A.-M.2    Zuppan, C.W.3    Shah, M.M.4    Bailey, L.L.5    Fletcher, W.H.6
  • 5
    • 0026102051 scopus 로고
    • Interstitial deletion of the long arm of chromosome 6 associated with absent pulmonary valve
    • Horigome H, Takano T, Hirano T, Kajima T, Ohtani S (1991). Interstitial deletion of the long arm of chromosome 6 associated with absent pulmonary valve. Am J Med Genet 38:608-611.
    • (1991) Am J Med Genet , vol.38 , pp. 608-611
    • Horigome, H.1    Takano, T.2    Hirano, T.3    Kajima, T.4    Ohtani, S.5
  • 6
    • 33847255395 scopus 로고    scopus 로고
    • Klein OD, Cotter PD, Moore NW, Zanko A, Gilats M, Epstein CJ, et al. (2007). Interstitial deletions of chromosome 6q: genotype-phenotype correlation utilizing array CGH. Clin Genet (onlinearly articles). DOI:10.1111/j.1399-0004.2007.00757
    • Klein OD, Cotter PD, Moore NW, Zanko A, Gilats M, Epstein CJ, et al. (2007). Interstitial deletions of chromosome 6q: genotype-phenotype correlation utilizing array CGH. Clin Genet (onlinearly articles). DOI:10.1111/j.1399-0004.2007.00757
  • 8
    • 0029084891 scopus 로고
    • Interstitial deletion of the long arm of chromosome 6 associated with unusual limb anomalies: Report of two new patients and review of the literature
    • Pandya A, Braverman N, Peritz RE, Ying KL, Kline AD, Falk RE (1995). Interstitial deletion of the long arm of chromosome 6 associated with unusual limb anomalies: report of two new patients and review of the literature. Am J Med Genet 59:38-42.
    • (1995) Am J Med Genet , vol.59 , pp. 38-42
    • Pandya, A.1    Braverman, N.2    Peritz, R.E.3    Ying, K.L.4    Kline, A.D.5    Falk, R.E.6
  • 9
    • 34548094528 scopus 로고    scopus 로고
    • HEY2 mutations in malformed hearts
    • Reamon-Buettner SM, Borlak J (2006). HEY2 mutations in malformed hearts. Hum Mutat 27:118.
    • (2006) Hum Mutat , vol.27 , pp. 118
    • Reamon-Buettner, S.M.1    Borlak, J.2
  • 10
    • 0021673508 scopus 로고
    • Interstitial deletion of the long arm of chromosome 6[del(6)(q16q22)]: Case report and review of the literature
    • Schwartz MF, Kaffe S, Wallae S, Desnick RJ (1984). Interstitial deletion of the long arm of chromosome 6[del(6)(q16q22)]: case report and review of the literature. Clin Genet 26:574-578.
    • (1984) Clin Genet , vol.26 , pp. 574-578
    • Schwartz, M.F.1    Kaffe, S.2    Wallae, S.3    Desnick, R.J.4
  • 11
    • 34147101262 scopus 로고    scopus 로고
    • An oligonucleotide based array-CGH system for detection of genome wide copy number changes including subtelomeric regions for genetic evaluation of mental retardation
    • Toruner GA, Streck D, Schwalb MA, Dermody JJ (2007). An oligonucleotide based array-CGH system for detection of genome wide copy number changes including subtelomeric regions for genetic evaluation of mental retardation. Am J Med Genet 148(8):824-829.
    • (2007) Am J Med Genet , vol.148 , Issue.8 , pp. 824-829
    • Toruner, G.A.1    Streck, D.2    Schwalb, M.A.3    Dermody, J.J.4
  • 15


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.