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Volumn 21, Issue 1, 2004, Pages 61-63

Identification of a recurrent mutation in the ROR2 gene in a Chinese family with brachydactyly type B

Author keywords

Brachydactyly type B; Mutation; ROR2 gene

Indexed keywords

GENOMIC DNA;

EID: 1042265362     PISSN: 10039406     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (5)

References (13)
  • 1
    • 0035146881 scopus 로고    scopus 로고
    • Brachydactyly Type C
    • Burgess RC. Brachydactyly Type C. J Hand Surg, 2001, 26: 31-39.
    • (2001) J Hand Surg , vol.26 , pp. 31-39
    • Burgess, R.C.1
  • 2
    • 0033073979 scopus 로고    scopus 로고
    • Brachydactyly type B: Clinical description, genetic mapping to chromosome 9q, and evidence for a shared ancestral mutation
    • Gong Y, Chitayat D, Kerr B, et al. Brachydactyly type B: clinical description, genetic mapping to chromosome 9q, and evidence for a shared ancestral mutation. Am J Hum Genet, 1999, 64: 570-577.
    • (1999) Am J Hum Genet , vol.64 , pp. 570-577
    • Gong, Y.1    Chitayat, D.2    Kerr, B.3
  • 3
    • 0033069441 scopus 로고    scopus 로고
    • Brachydactyly type B: Linkage to chromosome 9q22 and evidence for genetic heterogeneity
    • Oldridge M, Temple IK, Santos HG, et al. Brachydactyly type B: linkage to chromosome 9q22 and evidence for genetic heterogeneity. Am J Hum Genet, 1999, 64: 578-585.
    • (1999) Am J Hum Genet , vol.64 , pp. 578-585
    • Oldridge, M.1    Temple, I.K.2    Santos, H.G.3
  • 4
    • 20244373742 scopus 로고    scopus 로고
    • Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B
    • Schwabe GC, Tinschert S, Buschow C, et al. Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B. Am J Hum Genet, 2000, 67: 822-831.
    • (2000) Am J Hum Genet , vol.67 , pp. 822-831
    • Schwabe, G.C.1    Tinschert, S.2    Buschow, C.3
  • 5
    • 0034009511 scopus 로고    scopus 로고
    • Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B
    • Oldridge M, Fortuna AM, Maringa M, et al. Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B. Nat Genet, 2000, 24: 275-278.
    • (2000) Nat Genet , vol.24 , pp. 275-278
    • Oldridge, M.1    Fortuna, A.M.2    Maringa, M.3
  • 6
    • 0037383834 scopus 로고    scopus 로고
    • Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E
    • Johnson D, Kan SH, Oldridge M, et al. Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E. Am J Hum Genet, 2003, 72: 984-997.
    • (2003) Am J Hum Genet , vol.72 , pp. 984-997
    • Johnson, D.1    Kan, S.H.2    Oldridge, M.3
  • 7
    • 0031092272 scopus 로고    scopus 로고
    • The human gene mutation database
    • Krawczak M, Cooper DN. The human gene mutation database. Trends Genet, 1997, 13: 121-122.
    • (1997) Trends Genet , vol.13 , pp. 121-122
    • Krawczak, M.1    Cooper, D.N.2
  • 8
    • 1042271663 scopus 로고    scopus 로고
    • Genetic studies of two Buyi families with brachydactyly
    • Guo JZ, Wu ZQ, Wu LF. Genetic studies of two Buyi families with brachydactyly. Guizhou J Med, 1998, 22: 81-84.
    • (1998) Guizhou J Med , vol.22 , pp. 81-84
    • Guo, J.Z.1    Wu, Z.Q.2    Wu, L.F.3
  • 9
    • 19244377450 scopus 로고    scopus 로고
    • Linkage of recessive Robinow syndrome to a 4 cM interval on chromosome 9q22
    • Afzal AR, Rajab A, Fenske C, et al. Linkage of recessive Robinow syndrome to a 4 cM interval on chromosome 9q22. Hum Genet, 2000, 106: 351-354.
    • (2000) Hum Genet , vol.106 , pp. 351-354
    • Afzal, A.R.1    Rajab, A.2    Fenske, C.3
  • 10
    • 0034425405 scopus 로고    scopus 로고
    • Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2
    • Afzal AR, Rajab A, Fenske CD, et al. Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2. Nat Genet, 2000, 25: 419-422.
    • (2000) Nat Genet , vol.25 , pp. 419-422
    • Afzal, A.R.1    Rajab, A.2    Fenske, C.D.3
  • 11
    • 0034426036 scopus 로고    scopus 로고
    • Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome
    • van Bokhoven H, Celli J, Kayserili H, et al. Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome. Nat Genet, 2000, 25: 423-426.
    • (2000) Nat Genet , vol.25 , pp. 423-426
    • Van Bokhoven, H.1    Celli, J.2    Kayserili, H.3
  • 12
    • 0034051682 scopus 로고    scopus 로고
    • Ror2, encoding a receptor-like tyrosine kinase, is required for cartilage and growth plate development
    • DeChiara TM, Kimble RB, Poueymirou WT, et al. Ror2, encoding a receptor-like tyrosine kinase, is required for cartilage and growth plate development. Nat Genet, 2000, 24: 271-274.
    • (2000) Nat Genet , vol.24 , pp. 271-274
    • DeChiara, T.M.1    Kimble, R.B.2    Poueymirou, W.T.3
  • 13
    • 6744265274 scopus 로고    scopus 로고
    • Mouse Ror2 receptor tyrosine kinase is required for the heart development and limb formation
    • Takeuchi S, Takeda K, Oishi I, et al. Mouse Ror2 receptor tyrosine kinase is required for the heart development and limb formation. Genes Cells, 2000, 5: 71-78.
    • (2000) Genes Cells , vol.5 , pp. 71-78
    • Takeuchi, S.1    Takeda, K.2    Oishi, I.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.