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Volumn 152, Issue 6, 2010, Pages 1484-1487

Chromosome 11p15 duplication in Silver-Russell syndrome due to a maternally inherited translocation t(11;15)

Author keywords

11p15 deletion; 11p15 duplication; Beckwith Wiedemann syndrome; Familial translocation; Silver Russell syndrome

Indexed keywords

ADULT; ARTICLE; CHILD; CHROMOSOME 11P; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME TRANSLOCATION; CLINICAL FEATURE; FEMALE; GENETIC ANALYSIS; HUMAN; MALE; MICROSATELLITE MARKER; MOLECULAR GENETICS; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NEWBORN; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SILVER RUSSELL SYNDROME; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 77952779338     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33398     Document Type: Article
Times cited : (29)

References (9)
  • 2
    • 37249069897 scopus 로고    scopus 로고
    • Use of multiplex ligation-dependent probe amplification increases the detection rate for 11p15 epigenetic alterations in Silver-Russell syndrome
    • DOI 10.1111/j.1399-0004.2007.00930.x
    • Eggermann T, Sch€onherr N, Eggermann K, Buiting K, Ranke MB, Wollmann HA, Binder G. 2007. Use of multiplex ligation-dependent probe amplification increases the detection rate for 11p15 epigenetic alterations in Silver-Russell syndrome. Clin Genet 73:79-84. (Pubitemid 350263525)
    • (2008) Clinical Genetics , vol.73 , Issue.1 , pp. 79-84
    • Eggermann, T.1    Schonherr, N.2    Eggermann, K.3    Buiting, K.4    Ranke, M.B.5    Wollmann, H.A.6    Binder, G.7
  • 3
    • 0036765999 scopus 로고    scopus 로고
    • Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation
    • DOI 10.1007/s00439-002-0787-2
    • Fisher AM, Thomas NS, Cockwell A, Stecko O, Kerr B, Temple IK, Clayton P. 2002. Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation. Hum Genet 111:290-296. (Pubitemid 36075052)
    • (2002) Human Genetics , vol.111 , Issue.3 , pp. 290-296
    • Fisher, A.M.1    Thomas, N.S.2    Cockwell, A.3    Stecko, O.4    Kerr, B.5    Temple, I.K.6    Clayton, P.7
  • 5
    • 50549093173 scopus 로고    scopus 로고
    • Maternal uniparental disomy 7 and Silver-Russell syndrome - Clinical update and comparison with other subgroups
    • Kotzot D. 2008. Maternal uniparental disomy 7 and Silver-Russell syndrome - Clinical update and comparison with other subgroups. Eur J Med Genet 51:444-451.
    • (2008) Eur J Med Genet , vol.51 , pp. 444-451
    • Kotzot, D.1
  • 8
    • 55549114047 scopus 로고    scopus 로고
    • Co-occurrence of 4p16.3 deletions with both paternal and maternal duplications of 11p15 Modification of the Wolf-Hirschhorn syndrome phenotype by genetic alterations predicted to result in either a Beckwith-Wiedemann or Russell-Silver phenotype
    • South ST, Whitby H, Maxwell T, Aston E, Brothman AR, Carey JC. 2008. Co-occurrence of 4p16.3 deletions with both paternal and maternal duplications of 11p15: Modification of the Wolf-Hirschhorn syndrome phenotype by genetic alterations predicted to result in either a Beckwith-Wiedemann or Russell-Silver phenotype. Am J Med Genet Part A 146A:2691-2697.
    • (2008) Am J Med Genet , vol.146 A , Issue.PART A , pp. 2691-2697
    • South, S.T.1    Whitby, H.2    Maxwell, T.3    Aston, E.4    Brothman, A.R.5    Carey, J.C.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.