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Volumn 152, Issue 8, 2010, Pages 1990-1993

Investigation of 90 patients referred for molecular cytogenetic analysis using aCGH uncovers previously unsuspected anomalies of imprinting

Author keywords

Array comparative genomic hybridization; Beckwith Wiedemann syndrome; Imprinting; Russell Silver syndrome

Indexed keywords

SOMATOMEDIN B RECEPTOR;

EID: 77955300140     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33530     Document Type: Article
Times cited : (6)

References (15)
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  • 5
    • 66049151670 scopus 로고    scopus 로고
    • Broad clinical spectrum in Silver-Russell syndrome and consequences for genetic testing in growth retardation
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  • 6
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    • Epigenetic abnormalities of the mannose-6-phosphate/IGF2 receptor gene are uncommon in human overgrowth syndromes
    • Gicquel C, Weiss J, Amiel J, Gaston V, Le Bouc Y, Scott CD. 2004. Epigenetic abnormalities of the mannose-6-phosphate/IGF2 receptor gene are uncommon in human overgrowth syndromes. J Med Genet 41:e4.
    • (2004) J Med Genet , vol.41
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  • 7
    • 0027180213 scopus 로고
    • The insulin-like growth factor type-2 receptor gene is imprinted in the mouse but not in humans
    • Kalscheuer VM, Mariman EC, Schepens MT, Rehder H, Ropers HH. 1993. The insulin-like growth factor type-2 receptor gene is imprinted in the mouse but not in humans. Nat Genet 5:74-78.
    • (1993) Nat Genet , vol.5 , pp. 74-78
    • Kalscheuer, V.M.1    Mariman, E.C.2    Schepens, M.T.3    Rehder, H.4    Ropers, H.H.5
  • 12
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    • Regulation of embryonic growth and lysosomal targeting by the imprinted Igf2/Mpr gene
    • Wang ZQ, Fung MR, Barlow DP, Wagner EF. 1994. Regulation of embryonic growth and lysosomal targeting by the imprinted Igf2/Mpr gene. Nature 372:464-467.
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  • 13
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    • Aberrant imprinting of the insulin-like growth factor II receptor gene in Wilms' tumor
    • Xu YQ, Grundy P, Polychronakos C. 1997. Aberrant imprinting of the insulin-like growth factor II receptor gene in Wilms' tumor. Oncogene 14:1041-1046.
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    • Xu, Y.Q.1    Grundy, P.2    Polychronakos, C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.