메뉴 건너뛰기




Volumn 152, Issue 2, 2010, Pages 464-471

Chromosomal breakpoints characterization of two supernumerary ring chromosomes 20

Author keywords

Chromosome 20; Fluorescence in situ hybridization; Genotype phenotype correlation; Ring chromosome; Supernumerary marker chromosome

Indexed keywords

DNA; FLUORESCEIN ISOTHIOCYANATE; RHODAMINE;

EID: 75449092420     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33250     Document Type: Article
Times cited : (6)

References (17)
  • 2
    • 40749147287 scopus 로고    scopus 로고
    • Mechanisms and consequences of small supernumerary marker chromosomes: From Barbara McClintock to modern genetic counseling issues
    • Baldwin EL, May LF, Justice AN, Martin CL, Ledbetter DH. 2008. Mechanisms and consequences of small supernumerary marker chromosomes: From Barbara McClintock to modern genetic counseling issues. Am J Hum Genet 82:398-410.
    • (2008) Am J Hum Genet , vol.82 , pp. 398-410
    • Baldwin, E.L.1    May, L.F.2    Justice, A.N.3    Martin, C.L.4    Ledbetter, D.H.5
  • 3
    • 0035013623 scopus 로고    scopus 로고
    • Paternal uniparental isodisomy of chromosome 20q, and the resulting changes in GNAS1 methylation, as a plausible cause of pseudohypoparathyroidism
    • Bastepe M, Lane AH, Jüppner H. 2001. Paternal uniparental isodisomy of chromosome 20q, and the resulting changes in GNAS1 methylation, as a plausible cause of pseudohypoparathyroidism. Am J Hum Genet 68:1283-1289.
    • (2001) Am J Hum Genet , vol.68 , pp. 1283-1289
    • Bastepe, M.1    Lane, A.H.2    Jüppner, H.3
  • 4
    • 0028934283 scopus 로고
    • An accessory marker derived from chromosome 20 and its co-existence with a mosaic trisomy 20 cell line
    • Batista DAS, Escallon C, Blackmore KJ, Stetten G. 1995. An accessory marker derived from chromosome 20 and its co-existence with a mosaic trisomy 20 cell line. Prenat Diagn 15:123-127.
    • (1995) Prenat Diagn , vol.15 , pp. 123-127
    • Batista, D.A.S.1    Escallon, C.2    Blackmore, K.J.3    Stetten, G.4
  • 5
    • 0027485183 scopus 로고
    • Characterization of supernumerary ring marker chromosomes by fluorescence in situ hybridization (FISH)
    • Blennow E, Anneŕen G, Bui T-H, Berggren E, Asadi E, Nordenskjöld M. 1993. Characterization of supernumerary ring marker chromosomes by fluorescence in situ hybridization (FISH). Am J Genet 53:433-442.
    • (1993) Am J Genet , vol.53 , pp. 433-442
    • Blennow, E.1    Anneŕen, G.2    Bui, T.-H.3    Berggren, E.4    Asadi, E.5    Nordenskjöld, M.6
  • 6
    • 0025911027 scopus 로고
    • Chromosomal origin of small ring marker chromosomes in man: Characterization by molecular genetics
    • Callen DF, Ringenbergs ML, Freemantle CJ, Woodroffe P, Haan EA. 1991. Chromosomal origin of small ring marker chromosomes in man: Characterization by molecular genetics. Am J Genet 48:769-782.
    • (1991) Am J Genet , vol.48 , pp. 769-782
    • Callen, D.F.1    Ringenbergs, M.L.2    Freemantle, C.J.3    Woodroffe, P.4    Haan, E.A.5
  • 8
    • 0032477780 scopus 로고    scopus 로고
    • FISH and molecular study of autosomal supernumerary marker chromosomes excluding those derived from chromosomes 15 and 22: Results of 26 new cases
    • Crolla JA, Long F, Rivera H, Demnis NR.1998. FISH and molecular study of autosomal supernumerary marker chromosomes excluding those derived from chromosomes 15 and 22: Results of 26 new cases. Am J Med Genet 75:355-366.
    • (1998) Am J Med Genet , vol.75 , pp. 355-366
    • Crolla, J.A.1    Long, F.2    Rivera, H.3    Demnis, N.R.4
  • 13
    • 14044265666 scopus 로고    scopus 로고
    • Pinto MR, Fonseca e Silva ML, Aguiar J, Quelhas I, Lima MR. 2005. Supernumerary ring chromosome 20 in a mother and her child. Am J Med Genet Part A 133A:193-196.
    • Pinto MR, Fonseca e Silva ML, Aguiar J, Quelhas I, Lima MR. 2005. Supernumerary ring chromosome 20 in a mother and her child. Am J Med Genet Part A 133A:193-196.
  • 16
    • 0030951849 scopus 로고    scopus 로고
    • Identification of supernumerary der(20) chromosomes by FISH in three patients
    • Viersbach R, Engels H, Schwanitz G. 1997. Identification of supernumerary der(20) chromosomes by FISH in three patients. Am J Med Genet 70:278-283.
    • (1997) Am J Med Genet , vol.70 , pp. 278-283
    • Viersbach, R.1    Engels, H.2    Schwanitz, G.3
  • 17
    • 0027186047 scopus 로고
    • Human somatostatin receptor genes: Localization of SSTR5 to human chromosome 20p11.2
    • Yasuda K, Espinosa R, Davis EM, Le Beau MM, Bell GI. 1993. Human somatostatin receptor genes: localization of SSTR5 to human chromosome 20p11.2. Genomics 17:785-786.
    • (1993) Genomics , vol.17 , pp. 785-786
    • Yasuda, K.1    Espinosa, R.2    Davis, E.M.3    Le Beau, M.M.4    Bell, G.I.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.