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Volumn 34, Issue 3, 1997, Pages 217-222

Inherited DNA amplification of the proximal 15q region: Cytogenetic and molecular studies

Author keywords

In situ hybridisation; Inherited DNA amplification; Methylation; Proximal 15q

Indexed keywords

ADOLESCENT; ARTICLE; CASE REPORT; CHROMATIN; CHROMOSOME 15Q; CHROMOSOME ANALYSIS; CLINICAL FEATURE; DNA HYBRIDIZATION; DNA METHYLATION; DNA SEQUENCE; FEMALE; GENE AMPLIFICATION; GENE LOCUS; GENE REPLICATION; GROWTH RETARDATION; HUMAN; HUMAN CELL; MOLECULAR GENETICS; PRADER WILLI SYNDROME; PRIORITY JOURNAL;

EID: 0031027779     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.34.3.217     Document Type: Article
Times cited : (7)

References (9)
  • 2
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    • Clinical and molecular analysis of five inv dup (15) patients
    • Robinson WP, Binkert F, Giné R, et al. Clinical and molecular analysis of five inv dup (15) patients. Eur J Hum Genet 1993;1:37-50.
    • (1993) Eur J Hum Genet , vol.1 , pp. 37-50
    • Robinson, W.P.1    Binkert, F.2    Giné, R.3
  • 3
    • 0028205957 scopus 로고
    • Molecular cytogenetic analysis of inv dup (15) chromosomes, using probes specific for the Prader-Willi/Angelman syndrome region: Clinical implications
    • Leana-Cox J, Jenkins L, Palmer CG, el al. Molecular cytogenetic analysis of inv dup (15) chromosomes, using probes specific for the Prader-Willi/Angelman syndrome region: clinical implications. Am J Hum Genet 1994;54: 748-56.
    • (1994) Am J Hum Genet , vol.54 , pp. 748-756
    • Leana-Cox, J.1    Jenkins, L.2    Palmer, C.G.3
  • 4
    • 0028128302 scopus 로고
    • Inv dup (15) supernumerary marker chromosomes
    • Webb T. Inv dup (15) supernumerary marker chromosomes. J Med Genet 1994;31:585-94.
    • (1994) J Med Genet , vol.31 , pp. 585-594
    • Webb, T.1
  • 5
    • 0028821373 scopus 로고
    • Supernumerary marker 15 chromosomes: A clinical, molecular and FISH approach to diagnosis and prognosis
    • Crolla JA, Harvey JF, Sitch FL, Dennis NR. Supernumerary marker 15 chromosomes: a clinical, molecular and FISH approach to diagnosis and prognosis. Hum Genet 1995;95: 161-70.
    • (1995) Hum Genet , vol.95 , pp. 161-170
    • Crolla, J.A.1    Harvey, J.F.2    Sitch, F.L.3    Dennis, N.R.4
  • 6
    • 0029960187 scopus 로고    scopus 로고
    • Clinical heterogeneity in 16 patients with inv dup 15 chromosomes: Cytogenetic and molecular studies, search for an imprinting effect
    • Mignon C, Malzac P, Moncla A, et al. Clinical heterogeneity in 16 patients with inv dup 15 chromosomes: cytogenetic and molecular studies, search for an imprinting effect. Eur J Hum Genet 1996;4:88-100.
    • (1996) Eur J Hum Genet , vol.4 , pp. 88-100
    • Mignon, C.1    Malzac, P.2    Moncla, A.3
  • 7
    • 0025954480 scopus 로고
    • Absence of predictable phenotypic expression in proximal 15q duplications
    • Ludowese CJ, Thompson KJ, Sekhon GS, Pauli RM. Absence of predictable phenotypic expression in proximal 15q duplications. Clin Genet 199 1;40: 194-201.
    • (1991) Clin Genet , vol.40 , pp. 194-201
    • Ludowese, C.J.1    Thompson, K.J.2    Sekhon, G.S.3    Pauli, R.M.4
  • 8
    • 0000654766 scopus 로고
    • Triplication 15q11-13 in two unrelated patients with hypotonia, cognitive delays and visual impairment
    • Holowinsky S, Black SH, Howard-Peebles PN, et al. Triplication 15q11-13 in two unrelated patients with hypotonia, cognitive delays and visual impairment. Am J Hum Genet 1993;53:A125.
    • (1993) Am J Hum Genet , vol.53
    • Holowinsky, S.1    Black, S.H.2    Howard-Peebles, P.N.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.