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Volumn 70, Issue 8, 2004, Pages 550-551

Mutations in SALL4 in malformed father and daughter postulated previously due to reflect mutagenesis by thalidomide

Author keywords

[No Author keywords available]

Indexed keywords

THALIDOMIDE;

EID: 4444246179     PISSN: 15420752     EISSN: None     Source Type: Journal    
DOI: 10.1002/bdra.20050     Document Type: Letter
Times cited : (27)

References (16)
  • 1
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    • Basson CT, Bachinsky DR, Lin RC, et al. 1997. Mutations in human cause limb and cardiac malformation in Holt-Oram syndrome. Nat Genet 15:30-35.
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    • Basson, C.T.1    Bachinsky, D.R.2    Lin, R.C.3
  • 2
    • 0016120604 scopus 로고
    • Phocomelia, flexion deformities and absent thumbs: A new hereditary upper limb malformation
    • Holmes LB, Borden S. 1974. Phocomelia, flexion deformities and absent thumbs: a new hereditary upper limb malformation. Pediatrics 54:461-465.
    • (1974) Pediatrics , vol.54 , pp. 461-465
    • Holmes, L.B.1    Borden, S.2
  • 4
    • 0015852484 scopus 로고
    • The effect of thalidomide intake during 113 human pregnancies
    • Kajii T, Kida M, Takahashi K. 1973. The effect of thalidomide intake during 113 human pregnancies. Teratology 8:163-166.
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    • Kajii, T.1    Kida, M.2    Takahashi, K.3
  • 5
    • 0036848353 scopus 로고    scopus 로고
    • Okihiro syndrome is caused by SALL4 mutations
    • Kohlhase J, Heinrich M, Schubert L, et al. 2002. Okihiro syndrome is caused by SALL4 mutations. Hum Mol Genet 11:2979-2987.
    • (2002) Hum Mol Genet , vol.11 , pp. 2979-2987
    • Kohlhase, J.1    Heinrich, M.2    Schubert, L.3
  • 6
    • 0037488242 scopus 로고    scopus 로고
    • Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy
    • Kohlhase J, Schubert L, Liebers M, et al. 2003. Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy. J Med Genet 40:473-478.
    • (2003) J Med Genet , vol.40 , pp. 473-478
    • Kohlhase, J.1    Schubert, L.2    Liebers, M.3
  • 7
    • 73849153255 scopus 로고
    • Die thalidomid-embryopathie
    • Lenz W, Knapp K. 1962. Die Thalidomid-Embryopathie. Dtsch Med Wochenschr 87:1232-1242.
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    • Lenz, W.1    Knapp, K.2
  • 9
    • 1842413728 scopus 로고    scopus 로고
    • Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family
    • Li QY, Newbury-Ecob RA, Terrett JA, et al. 1997. Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family. Nat Genet 15:21-29.
    • (1997) Nat Genet , vol.15 , pp. 21-29
    • Li, Q.Y.1    Newbury-Ecob, R.A.2    Terrett, J.A.3
  • 10
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    • Thalidomide may be a mutagen
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  • 11
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    • Teratogen update: Thalidomide: A review, with a focus on ocular findings and new potential uses
    • Miller MC, Strömland K. 1999. Teratogen update: thalidomide: a review, with a focus on ocular findings and new potential uses. Teratology 60:306-321.
    • (1999) Teratology , vol.60 , pp. 306-321
    • Miller, M.C.1    Strömland, K.2
  • 12
    • 0014707426 scopus 로고
    • Skeletal manifestations of the Holt-Oram syndrome
    • Poznanski AK, Gall JC Jr, Stern AM. 1970. Skeletal manifestations of the Holt-Oram syndrome. Radiology 94:45-53.
    • (1970) Radiology , vol.94 , pp. 45-53
    • Poznanski, A.K.1    Gall Jr., J.C.2    Stern, A.M.3
  • 13
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    • Thalidomide may be a mutagen. Comment
    • Read AP. 1994. Thalidomide may be a mutagen. Comment. Br Med J 308:1636.
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    • Read, A.P.1
  • 14
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    • A pedigree of malformed upper extremities
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    • Strömland, K.1    Philipson, E.2    Grönlund, M.A.3
  • 16
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    • p63 Gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation
    • van Bokhoven H, Hamel BC, Bamshad M, et al. 2001. p63 Gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation. Am J Hum Genet 69:481-492.
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    • Van Bokhoven, H.1    Hamel, B.C.2    Bamshad, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.