메뉴 건너뛰기




Volumn 98, Issue 6, 1996, Pages 710-718

Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients

Author keywords

[No Author keywords available]

Indexed keywords

4 [5 (4 METHYL 1 PIPERAZINYL)[2,5' BI 1H BENZIMIDAZOL] 2' YL]PHENOL; CHROMOMYCIN;

EID: 10544246897     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050291     Document Type: Article
Times cited : (43)

References (39)
  • 1
    • 84971730793 scopus 로고
    • Smith-Magenis syndrome (interstitial deletion of chromosome 17p) and congenital heart disease
    • Abuelo DN, Corwin RD (1993) Smith-Magenis syndrome (interstitial deletion of chromosome 17p) and congenital heart disease. Cardiol Young 3:441-444
    • (1993) Cardiol Young , vol.3 , pp. 441-444
    • Abuelo, D.N.1    Corwin, R.D.2
  • 3
    • 0021688283 scopus 로고
    • The use of cyclosporin A in establishing EBV-transformed human lymphoblastoid cell lines
    • Anderson MA, Gusella JR (1984) The use of cyclosporin A in establishing EBV-transformed human lymphoblastoid cell lines. In Vitro 20:856-858
    • (1984) In Vitro , vol.20 , pp. 856-858
    • Anderson, M.A.1    Gusella, J.R.2
  • 4
    • 0025095598 scopus 로고
    • Study of X chromosome abnormality in XX males using bivariate flow karyotype analysis and flow sorted dot blots
    • Carter NP, Ferguson-Smtth ME, Affara NA, Briggs H, Ferguson-Smith MA (1990) Study of X chromosome abnormality in XX males using bivariate flow karyotype analysis and flow sorted dot blots. Cytometry 11:202-207
    • (1990) Cytometry , vol.11 , pp. 202-207
    • Carter, N.P.1    Ferguson-Smtth, M.E.2    Affara, N.A.3    Briggs, H.4    Ferguson-Smith, M.A.5
  • 7
    • 0025218940 scopus 로고
    • Five cases demonstrating the distinctive behavioural features of chromosome deletion 17(p11.2 p11.2) (Smith-Magenis syndrome)
    • Colley AF, Leversha MA, Voullaire LE, Rogers JG (1990) Five cases demonstrating the distinctive behavioural features of chromosome deletion 17(p11.2 p11.2) (Smith-Magenis syndrome). J Paediatr Child Health 26:17-21
    • (1990) J Paediatr Child Health , vol.26 , pp. 17-21
    • Colley, A.F.1    Leversha, M.A.2    Voullaire, L.E.3    Rogers, J.G.4
  • 10
    • 0031115936 scopus 로고    scopus 로고
    • Brief report: Cognitive and behavioral profiles in persons with Smith-Magenis syndrome
    • in press
    • Dykens EM, Finucane BM, Gayley C (1996) Brief report: cognitive and behavioral profiles in persons with Smith-Magenis syndrome. J Autism Dev Disord (in press)
    • (1996) J Autism Dev Disord
    • Dykens, E.M.1    Finucane, B.M.2    Gayley, C.3
  • 17
    • 0029649372 scopus 로고
    • Letter to the editor: Apparent mosaicism for del(17)(p11.2) ruled out by fluorescence in situ hybridization in a Smith-Magenis syndrome patient
    • Juyal RC, Finucane B, Shaffer LG, Lupski JR, Greenberg F, Scott CI, Baldini A, Patel PI (1995b) Letter to the editor: Apparent mosaicism for del(17)(p11.2) ruled out by fluorescence in situ hybridization in a Smith-Magenis syndrome patient. Am J Med Genet 59:406-407
    • (1995) Am J Med Genet , vol.59 , pp. 406-407
    • Juyal, R.C.1    Finucane, B.2    Shaffer, L.G.3    Lupski, J.R.4    Greenberg, F.5    Scott, C.I.6    Baldini, A.7    Patel, P.I.8
  • 21
    • 0021900245 scopus 로고
    • Identification of inverted duplicated #15 chromosomes using bivariate flow cytometric analysis
    • Lalande M, Schreck RR, Hoffman R, Latt SA (1985) Identification of inverted duplicated #15 chromosomes using bivariate flow cytometric analysis. Cytometry 6:1-6
    • (1985) Cytometry , vol.6 , pp. 1-6
    • Lalande, M.1    Schreck, R.R.2    Hoffman, R.3    Latt, S.A.4
  • 22
    • 0027366552 scopus 로고
    • Inherited primary peripheral neuropathies: Molecular genetics and clinical implications of CMT1A and HNPP
    • Lupski JR, Chance PF, Garcia CA (1993) Inherited primary peripheral neuropathies: molecular genetics and clinical implications of CMT1A and HNPP. JAMA 270:2326-2330
    • (1993) JAMA , vol.270 , pp. 2326-2330
    • Lupski, J.R.1    Chance, P.F.2    Garcia, C.A.3
  • 23
    • 0026745929 scopus 로고
    • Xp21 contiguous gene syndromes: Deletion quantisation with bivariate flow karyotyping allows mapping of patient breakpoints
    • McCabe ERB, Towbin JA, van den Engh G, Trask BJ (1992) Xp21 contiguous gene syndromes: deletion quantisation with bivariate flow karyotyping allows mapping of patient breakpoints. Am J Hum Genet 51:1277-1285
    • (1992) Am J Hum Genet , vol.51 , pp. 1277-1285
    • McCabe, E.R.B.1    Towbin, J.A.2    Van Den Engh, G.3    Trask, B.J.4
  • 24
    • 0025875443 scopus 로고
    • Smith-Magenis syndrome: A new contiguous gene syndrome. Report of three new cases
    • Moncla A, Livet MO, Auger M, Mattei JF, Mattei MG, Giraud F (1991) Smith-Magenis syndrome: a new contiguous gene syndrome. Report of three new cases. J Med Genet 28:627-632
    • (1991) J Med Genet , vol.28 , pp. 627-632
    • Moncla, A.1    Livet, M.O.2    Auger, M.3    Mattei, J.F.4    Mattei, M.G.5    Giraud, F.6
  • 26
    • 0027017033 scopus 로고
    • Charcot-Marie-Tooth type 1A tandem duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit
    • Pentao L, Wise CA, Chinault AC, Patel PI, Lupski JR (1992) Charcot-Marie-Tooth type 1A tandem duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit. Nat Genet 2:292-300
    • (1992) Nat Genet , vol.2 , pp. 292-300
    • Pentao, L.1    Wise, C.A.2    Chinault, A.C.3    Patel, P.I.4    Lupski, J.R.5
  • 28
    • 0001403971 scopus 로고
    • Deletion of the 17 short arm in two patients with facial clefts and congenital heart disease
    • Smith ACM, McGavran L, Waldstein G, Robinson J (1982) Deletion of the 17 short arm in two patients with facial clefts and congenital heart disease. Am J Hum Genet 34:410A
    • (1982) Am J Hum Genet , vol.34
    • Smith, A.C.M.1    McGavran, L.2    Waldstein, G.3    Robinson, J.4
  • 31
    • 0024470743 scopus 로고
    • Chromosome heteromorphism quantified by high-resolution bivariate flow karyotyping
    • Trask B, van den Engh G, Mayall B, Gray JW (1989) Chromosome heteromorphism quantified by high-resolution bivariate flow karyotyping. Am J Hum Genet 45:739-752
    • (1989) Am J Hum Genet , vol.45 , pp. 739-752
    • Trask, B.1    Van Den Engh, G.2    Mayall, B.3    Gray, J.W.4
  • 32
    • 0025190678 scopus 로고
    • Quantification of the DNA content of structurally abnormal X chromosomes and X chromosome aneuploidy using high resolution bivariate flow karyotyping
    • Trask B, van den Engh G, Nussbaum R, Schwartz C, Gray J (1990) Quantification of the DNA content of structurally abnormal X chromosomes and X chromosome aneuploidy using high resolution bivariate flow karyotyping. Cytometry 11:184-195
    • (1990) Cytometry , vol.11 , pp. 184-195
    • Trask, B.1    Van Den Engh, G.2    Nussbaum, R.3    Schwartz, C.4    Gray, J.5
  • 33
    • 0026640363 scopus 로고
    • Photo-bleaching and photon saturation in flow cytometry
    • van den Engh G, Farmer C (1992) Photo-bleaching and photon saturation in flow cytometry. Cytometry 13:669-677
    • (1992) Cytometry , vol.13 , pp. 669-677
    • Van Den Engh, G.1    Farmer, C.2
  • 34
    • 0024549925 scopus 로고
    • Parallel processing data acquisition system for multi-laser flow cytometry and cell sorting
    • van den Engh G, Stokdijk W (1989) Parallel processing data acquisition system for multi-laser flow cytometry and cell sorting. Cytometry 10:282-293
    • (1989) Cytometry , vol.10 , pp. 282-293
    • Van Den Engh, G.1    Stokdijk, W.2
  • 36
    • 0022463676 scopus 로고
    • The binding kinetics and interaction of DNA fluorochromes used in the analysis of nuclei and chromosomes by flow cytometry
    • van den Engh GJ, Trask BJ, Gray JW (1986) The binding kinetics and interaction of DNA fluorochromes used in the analysis of nuclei and chromosomes by flow cytometry. Histochemistry 84:501-508
    • (1986) Histochemistry , vol.84 , pp. 501-508
    • Van Den Engh, G.J.1    Trask, B.J.2    Gray, J.W.3
  • 37
    • 0023901625 scopus 로고
    • Improved resolution of flow cytometric measurements of Hoechst/Chromomycin-A3-stained human chromosomes after addition of citrate and sulfite
    • van den Engh G, Trask B, Lansdorp P, Gray J (1988) Improved resolution of flow cytometric measurements of Hoechst/Chromomycin-A3-stained human chromosomes after addition of citrate and sulfite. Cytometry 9:266-270
    • (1988) Cytometry , vol.9 , pp. 266-270
    • Van Den Engh, G.1    Trask, B.2    Lansdorp, P.3    Gray, J.4
  • 38
    • 0025101512 scopus 로고
    • A computer program for analyzing bivariate flow karyotypes
    • van den Engh G, Hanson D, Trask B (1990) A computer program for analyzing bivariate flow karyotypes. Cytometry 11:173-183
    • (1990) Cytometry , vol.11 , pp. 173-183
    • Van Den Engh, G.1    Hanson, D.2    Trask, B.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.