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Volumn 12, Issue 1, 2008, Pages 111-113

Search for subtelomeric imbalances by multiplex ligation-dependent probe amplification in Silver-Russell syndrome

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CLINICAL ARTICLE; CONGENITAL MALFORMATION; DNA POLYMORPHISM; GENE AMPLIFICATION; GENE DELETION; GENE DUPLICATION; HUMAN; MENTAL DEFICIENCY; PHENOTYPE; SILVER RUSSELL SYNDROME; TELOMERE;

EID: 41449116570     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/gte.2007.0075     Document Type: Article
Times cited : (3)

References (9)
  • 4
    • 0036765999 scopus 로고    scopus 로고
    • Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation
    • 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.
    • (2002) Hum Genet , vol.111 , 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
  • 6
    • 2342637702 scopus 로고    scopus 로고
    • Cognitive development in Silver-Russell syndrome. A sibling-controlled study
    • Noeker M, Wollmann HA (2004) Cognitive development in Silver-Russell syndrome. A sibling-controlled study. Dev Med Child Neurol 46:340-346.
    • (2004) Dev Med Child Neurol , vol.46 , pp. 340-346
    • Noeker, M.1    Wollmann, H.A.2
  • 7
    • 33745226965 scopus 로고    scopus 로고
    • Subtelomere FISH analysis of 11,688 cases: An evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities
    • Ravnan JB, Tepperberg JH, Papenhausen P, Lamb AN, Hedrick J, Eash D, Ledbetter DH, Martin CL (2006) Subtelomere FISH analysis of 11,688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities. J Med Genet 43:478-489.
    • (2006) J Med Genet , vol.43 , pp. 478-489
    • Ravnan, J.B.1    Tepperberg, J.H.2    Papenhausen, P.3    Lamb, A.N.4    Hedrick, J.5    Eash, D.6    Ledbetter, D.H.7    Martin, C.L.8
  • 8
  • 9
    • 33846461696 scopus 로고    scopus 로고
    • The centromeric 11p15 imprinting center is also involved in Silver-Russell syndrome
    • Schönherr N, Meyer E, Schmidt A, Wollmann HA, Eggermann T (2007) The centromeric 11p15 imprinting center is also involved in Silver-Russell syndrome. J Med Genet 44:59-63.
    • (2007) J Med Genet , vol.44 , pp. 59-63
    • Schönherr, N.1    Meyer, E.2    Schmidt, A.3    Wollmann, H.A.4    Eggermann, T.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.