메뉴 건너뛰기




Volumn 35, Issue 9, 1998, Pages 722-726

Del(l8p) shown to be a cryptic translocation using a multiprobe FISH assay for subtelomeric chromosome rearrangements

Author keywords

Cryptic translocations; Del(l8p); Fluorescence in situ hybridisation (FISH); Subtelomeric chromosome rearrangements

Indexed keywords

ADULT; ARTHRITIS; ARTICLE; BODY BUILD; CASE REPORT; CHROMOSOME 18P; CHROMOSOME 2; CHROMOSOME ABERRATION; CHROMOSOME BANDING PATTERN; CHROMOSOME DELETION; CHROMOSOME PAINTING; CHROMOSOME REARRANGEMENT; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE TRANSLOCATION; HUMAN; KARYOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SPINAL MUSCULAR ATROPHY; TECHNIQUE; TELOMERE; CHROMOSOME 18; CHROMOSOME DISORDER; GENETICS; KARYOTYPING; KERATOSIS; METHODOLOGY;

EID: 0031595770     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (56)

References (22)
  • 2
    • 0025866732 scopus 로고
    • Single maxillary central incisor in a girl with del(18p) syndrome
    • Aughton DJ, AlSaadi AA, Transue DJ. Single maxillary central incisor in a girl with del(18p) syndrome. J Med Genet 1991;28:530-2.
    • (1991) J Med Genet , vol.28 , pp. 530-532
    • Aughton, D.J.1    Alsaadi, A.A.2    Transue, D.J.3
  • 3
    • 0028593322 scopus 로고
    • Single mandibular incisor in a patient with del(18p) anomaly
    • Pfeiffer RA, Hertrick K, Cohen M. Single mandibular incisor in a patient with del(18p) anomaly. Clin Genet 1994;46: 430-2.
    • (1994) Clin Genet , vol.46 , pp. 430-432
    • Pfeiffer, R.A.1    Hertrick, K.2    Cohen, M.3
  • 4
    • 0027183184 scopus 로고
    • A retrospective CISS hybridization analysis of a case with de novo translocation t(18;22) resulting in an 18p- Syndrome
    • Voiculescu I, Toder R, Back E, Osswald P, Schempp W. A retrospective CISS hybridization analysis of a case with de novo translocation t(18;22) resulting in an 18p- syndrome. Clin Genet 1993;43:318-20.
    • (1993) Clin Genet , vol.43 , pp. 318-320
    • Voiculescu, I.1    Toder, R.2    Back, E.3    Osswald, P.4    Schempp, W.5
  • 7
    • 0029042820 scopus 로고
    • 18p monosomy with GH-deficiency and empty sella: Good response to GH-treatment
    • Schober E, Scheibenreiter S, Frisch H. 18p monosomy with GH-deficiency and empty sella: good response to GH-treatment. Clin Genet 1995;47:254-6.
    • (1995) Clin Genet , vol.47 , pp. 254-256
    • Schober, E.1    Scheibenreiter, S.2    Frisch, H.3
  • 9
    • 16044371402 scopus 로고    scopus 로고
    • A complete set of human telomeric probes and their clinical application
    • National Institutes of Health and Institute of Molecular Medicine Collaboration. A complete set of human telomeric probes and their clinical application. Nat Genet 1996;13:86-9.
    • (1996) Nat Genet , vol.13 , pp. 86-89
  • 10
    • 0030960829 scopus 로고    scopus 로고
    • Development and clinical application of an innovative fluorescence in situ hybridization technique which detects submicroscopic rearrangements involving telomeres
    • Knight SJL, Horsley SW, Regan R, et al. Development and clinical application of an innovative fluorescence in situ hybridization technique which detects submicroscopic rearrangements involving telomeres. Eur J Hum Genet 1997;5:1-8.
    • (1997) Eur J Hum Genet , vol.5 , pp. 1-8
    • Knight, S.J.L.1    Horsley, S.W.2    Regan, R.3
  • 11
    • 0028922174 scopus 로고
    • PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy
    • Van der Steege G, Grootschotten PM, van der Vlies P, et al. PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy. Lancet 1995;345: 985-6.
    • (1995) Lancet , vol.345 , pp. 985-986
    • Van Der Steege, G.1    Grootschotten, P.M.2    Van Der Vlies, P.3
  • 12
    • 0028797783 scopus 로고
    • Identification and characterization of a spinal muscular atrophy-determining gene
    • Lefebvre S, Bürglen L, Reboullet S, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 1995;80:155-65.
    • (1995) Cell , vol.80 , pp. 155-165
    • Lefebvre, S.1    Bürglen, L.2    Reboullet, S.3
  • 13
    • 0000452806 scopus 로고
    • Chromosome staining and banding techniques
    • Rooney DE, Czepulkowski BH, eds. Oxford: IRL Press
    • Benn PA, Perle MA. Chromosome staining and banding techniques. In: Rooney DE, Czepulkowski BH, eds. Human cytogenetics: a practical approach. Oxford: IRL Press, 1992:91-118.
    • (1992) Human Cytogenetics: A Practical Approach , pp. 91-118
    • Benn, P.A.1    Perle, M.A.2
  • 14
    • 0027503946 scopus 로고
    • Characterisation of three de novo derivative chromosomes 16 by 'reverse chromosome painting' and molecular analysis
    • Rack KA, Harris PC, MacCarthy AM, et ed. Characterisation of three de novo derivative chromosomes 16 by 'reverse chromosome painting' and molecular analysis. Am J Hum Genet 1993;52:987-97.
    • (1993) Am J Hum Genet , vol.52 , pp. 987-997
    • Rack, K.A.1    Harris, P.C.2    MacCarthy, A.M.3
  • 15
    • 0002705497 scopus 로고
    • Fluorescent in situ hybridization
    • Davies KE, ed. Oxford: IRL Press
    • Buckle VJ, Rack K. Fluorescent in situ hybridization. In: Davies KE, ed. Human genetic disease analysis. Oxford: IRL Press, 1993:59-80.
    • (1993) Human Genetic Disease Analysis , pp. 59-80
    • Buckle, V.J.1    Rack, K.2
  • 16
    • 0026574162 scopus 로고
    • Reverse chromosome painting: A method for the rapid analysis of aberrant chromosomes in clinical cytogenetics
    • Carter NP, Ferguson-Smith MA, Perryman MT, et al. Reverse chromosome painting: a method for the rapid analysis of aberrant chromosomes in clinical cytogenetics. J Med Genet 1992;29:299-307.
    • (1992) J Med Genet , vol.29 , pp. 299-307
    • Carter, N.P.1    Ferguson-Smith, M.A.2    Perryman, M.T.3
  • 17
    • 0028925114 scopus 로고
    • Trisomy 2p: Analysis of unusual phenotypic findings
    • Lurie IW, Ilyina HG, Gurevich DE, et al. Trisomy 2p: analysis of unusual phenotypic findings. Am J Med Genet 1995; 55:229-36.
    • (1995) Am J Med Genet , vol.55 , pp. 229-236
    • Lurie, I.W.1    Ilyina, H.G.2    Gurevich, D.E.3
  • 21
    • 0038214755 scopus 로고    scopus 로고
    • Multicolor spectral karyotyping of human chromosomes
    • Schrock E, du Manoir S, Veldman T, et al. Multicolor spectral karyotyping of human chromosomes. Science 1996;273: 494-7.
    • (1996) Science , vol.273 , pp. 494-497
    • Schrock, E.1    Du Manoir, S.2    Veldman, T.3
  • 22
    • 0029912473 scopus 로고    scopus 로고
    • Karyotyping human chromosomes by combinatorial multi-fluor FISH
    • Speicher MR, Ballard SG, Ward DC. Karyotyping human chromosomes by combinatorial multi-fluor FISH. Nat Genet 1996;12:368-75.
    • (1996) Nat Genet , vol.12 , pp. 368-375
    • Speicher, M.R.1    Ballard, S.G.2    Ward, D.C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.