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Volumn 70, Issue 6, 2006, Pages 538-540

Brachydactyly type B1: Report of a family with de novo ROR2 mutation [6]

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN TYROSINE KINASE; PROTEIN TYROSINE KINASE ROR2; UNCLASSIFIED DRUG;

EID: 33750983968     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2006.00719.x     Document Type: Letter
Times cited : (6)

References (11)
  • 1
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    • 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
  • 2
    • 0042914398 scopus 로고    scopus 로고
    • ROR2 is mutated in hereditary brachydactyly with nail dysplasia, but not in Sorsby syndrome
    • Bacchelli C, Wilson L, Cook J, Winter R, Goodman F. ROR2 is mutated in hereditary brachydactyly with nail dysplasia, but not in Sorsby syndrome. Clin Genet 2003: 64: 263-265.
    • (2003) Clin Genet , vol.64 , pp. 263-265
    • Bacchelli, C.1    Wilson, L.2    Cook, J.3    Winter, R.4    Goodman, F.5
  • 3
    • 0028001613 scopus 로고
    • Characteristic facies in type B brachydactyly?
    • Houlston RS, Temple IK. Characteristic facies in type B brachydactyly? Clin Dysmorphol 1994: 3: 224-227.
    • (1994) Clin Dysmorphol , vol.3 , pp. 224-227
    • Houlston, R.S.1    Temple, I.K.2
  • 4
    • 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
  • 5
    • 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
  • 6
    • 0033009879 scopus 로고    scopus 로고
    • Brachydactyly type B with its distinct facies and 'Cooks syndrome'are the same entity
    • de Ravel TJ, Berkowitz DE, Wagner JM, Jenkins T. Brachydactyly type B with its distinct facies and 'Cooks syndrome'are the same entity. Clin Dysmorphol 1999: 8: 41-45.
    • (1999) Clin Dysmorphol , vol.8 , pp. 41-45
    • de Ravel, T.J.1    Berkowitz, D.E.2    Wagner, J.M.3    Jenkins, T.4
  • 7
    • 0029335980 scopus 로고
    • Characteristic facies in type B brachydactyly?
    • Santos H. Characteristic facies in type B brachydactyly? Clin Dysmorphol 1995: 4: 274-275.
    • (1995) Clin Dysmorphol , vol.4 , pp. 274-275
    • Santos, H.1
  • 8
    • 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
  • 9
    • 0021970380 scopus 로고
    • A new nail dysplasia syndrome with onychonychia and absence and/or hypoplasia of distal phalanges
    • Cooks RG, Hertz M, Katznelson MB, Goodman RM. A new nail dysplasia syndrome with onychonychia and absence and/or hypoplasia of distal phalanges. Clin Genet 1985: 27: 85-91.
    • (1985) Clin Genet , vol.27 , pp. 85-91
    • Cooks, R.G.1    Hertz, M.2    Katznelson, M.B.3    Goodman, R.M.4
  • 10
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    • Anonychia and absence/hypoplasia of distal phalanges (Cooks syndrome): Report of a second family
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    • (1995) J Med Genet , vol.32 , pp. 638-641
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  • 11
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    • Identification of a recurrent mutation in the ROR2 gene in a Chinese family with brachydactyly type B
    • Yang W, Tan FQ, Sun M et al. Identification of a recurrent mutation in the ROR2 gene in a Chinese family with brachydactyly type B. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2004: 21: 61-63.
    • (2004) Zhonghua Yi Xue Yi Chuan Xue Za Zhi , vol.21 , pp. 61-63
    • Yang, W.1    Tan, F.Q.2    Sun, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.