메뉴 건너뛰기




Volumn 99, Issue 5, 1997, Pages 596-601

Comparative genomic hybridization reveals a partial de novo trisomy 6q23-qter in an infant with congenital malformations: Delineation of the phenotype

Author keywords

[No Author keywords available]

Indexed keywords

APOLIPOPROTEIN A;

EID: 0030897814     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050412     Document Type: Article
Times cited : (28)

References (20)
  • 5
    • 0026526357 scopus 로고
    • The apolipoprotein (a) gene: A transcribed hypervariable locus controlling plasma lipoprotein (a) concentration
    • Kraft HG, Kochl S, Menzel HJ, Sandholzer C, Utermann G (1992) The apolipoprotein (a) gene: a transcribed hypervariable locus controlling plasma lipoprotein (a) concentration. Hum Genet 90:220-230
    • (1992) Hum Genet , vol.90 , pp. 220-230
    • Kraft, H.G.1    Kochl, S.2    Menzel, H.J.3    Sandholzer, C.4    Utermann, G.5
  • 6
    • 0000477103 scopus 로고
    • Enzymatic synthesis of biotin-labeled polynucleotides: Novel nucleic acid affinity probes
    • Langer PR, Waldrop AA, Ward DC (1981) Enzymatic synthesis of biotin-labeled polynucleotides: novel nucleic acid affinity probes. Proc Natl Acad Sci USA 78:6633-6637
    • (1981) Proc Natl Acad Sci USA , vol.78 , pp. 6633-6637
    • Langer, P.R.1    Waldrop, A.A.2    Ward, D.C.3
  • 7
    • 0026746602 scopus 로고
    • Minireview: Cryptic translocations and telomere integrity
    • Ledbetter DH (1992) Minireview: cryptic translocations and telomere integrity. Am J Hum Genet 51:451-456
    • (1992) Am J Hum Genet , vol.51 , pp. 451-456
    • Ledbetter, D.H.1
  • 8
    • 0026725180 scopus 로고
    • Fluorescence in situ hybridization of YAC clones after Alu-PCR amplification
    • Lengauer C, Green ED, Cremer T (1992) Fluorescence in situ hybridization of YAC clones after Alu-PCR amplification. Genomics 13:826-828
    • (1992) Genomics , vol.13 , pp. 826-828
    • Lengauer, C.1    Green, E.D.2    Cremer, T.3
  • 9
    • 0000579784 scopus 로고
    • Chromosome analysis by nonisotopic in situ hybridization
    • Rooney DA, Czepulkowski BH (eds) IRL, Oxford New York Tokyo
    • Lichter P, Cremer T (1992) Chromosome analysis by nonisotopic in situ hybridization. In: Rooney DA, Czepulkowski BH (eds) Human cytogenetics, 2nd edn. IRL, Oxford New York Tokyo, pp 157-192
    • (1992) Human Cytogenetics, 2nd Edn. , pp. 157-192
    • Lichter, P.1    Cremer, T.2
  • 10
    • 0025844947 scopus 로고
    • Analysis of genes and chromosomes by nonisotopic in situ hybridization
    • Lichter P, Boyle AL, Cremer T, Ward DC (1991) Analysis of genes and chromosomes by nonisotopic in situ hybridization. Genet Anal Tech Appl 8:24-35
    • (1991) Genet Anal Tech Appl , vol.8 , pp. 24-35
    • Lichter, P.1    Boyle, A.L.2    Cremer, T.3    Ward, D.C.4
  • 12
    • 0026849710 scopus 로고
    • Rapid generation of region specific probes by chromosome microdissection and their application
    • Meltzer PS, Guan XY, Burgess A, Trent JM (1992) Rapid generation of region specific probes by chromosome microdissection and their application. Nat Genet 1:24-28
    • (1992) Nat Genet , vol.1 , pp. 24-28
    • Meltzer, P.S.1    Guan, X.Y.2    Burgess, A.3    Trent, J.M.4
  • 13
    • 0027326770 scopus 로고
    • The origin of cytologically unidentifiable chromosome abnormalities: Six cases ascertained by targeted chromosome-band painting
    • Ohta T, Tohma T, Soejima H, Fukushima Y, Nagai T, Yoshiura K, Jinno Y, Niikawa N (1993) The origin of cytologically unidentifiable chromosome abnormalities: six cases ascertained by targeted chromosome-band painting. Hum Genet 92:1-5
    • (1993) Hum Genet , vol.92 , pp. 1-5
    • Ohta, T.1    Tohma, T.2    Soejima, H.3    Fukushima, Y.4    Nagai, T.5    Yoshiura, K.6    Jinno, Y.7    Niikawa, N.8
  • 14
    • 0026771543 scopus 로고
    • The presence of interstitial telomeric sequences in constitutional chromosome abnormalities
    • Park VM, Gustashaw KM, Wathen TM (1992) The presence of interstitial telomeric sequences in constitutional chromosome abnormalities. Am J Hum Genet 50:914-923
    • (1992) Am J Hum Genet , vol.50 , pp. 914-923
    • Park, V.M.1    Gustashaw, K.M.2    Wathen, T.M.3
  • 15
    • 0025292465 scopus 로고
    • Partial duplication of the long arm of chromosome 6: A clinically recognisable syndrome
    • Pivnick EK, Qumsiyeh MB, Tharapel AT, Summitt JB, Wilroy RS (1990) Partial duplication of the long arm of chromosome 6: a clinically recognisable syndrome. J Med Genet 27:523-526
    • (1990) J Med Genet , vol.27 , pp. 523-526
    • Pivnick, E.K.1    Qumsiyeh, M.B.2    Tharapel, A.T.3    Summitt, J.B.4    Wilroy, R.S.5
  • 16
    • 0027491266 scopus 로고
    • A strategy for the characterization of minute chromosome rearrangements using multiple color fluorescence in situ hybridization with chromosome-specific DNA libraries and YAC clones
    • Popp S, Jauch A, Schindler D, Speicher MR, Lengauer C, Donis Keller H, Riethman HC, Cremer T (1993) A strategy for the characterization of minute chromosome rearrangements using multiple color fluorescence in situ hybridization with chromosome-specific DNA libraries and YAC clones. Hum Genet 92: 527-532
    • (1993) Hum Genet , vol.92 , pp. 527-532
    • Popp, S.1    Jauch, A.2    Schindler, D.3    Speicher, M.R.4    Lengauer, C.5    Donis Keller, H.6    Riethman, H.C.7    Cremer, T.8
  • 19
    • 0029912473 scopus 로고    scopus 로고
    • Karyotyping human chromosomes by combinatorial multi-fluor FISH
    • Speicher MR, Ballard SG, Ward DC (1996) Karyotyping human chromosomes by combinatorial multi-fluor FISH. Nat Genet 12:368-375
    • (1996) Nat Genet , vol.12 , pp. 368-375
    • Speicher, M.R.1    Ballard, S.G.2    Ward, D.C.3
  • 20
    • 0024362630 scopus 로고
    • The mysteries of lipoprotein (a)
    • Utermann G (1989) The mysteries of lipoprotein (a). Science 246: 904-910
    • (1989) Science , vol.246 , pp. 904-910
    • Utermann, G.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.