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Volumn 71, Issue 3, 2007, Pages 285-287

A family with lymphoedema-distichiasis where identical twins have a discordant phenotype [1]

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; DNA; FORKHEAD TRANSCRIPTION FACTOR; GUANINE;

EID: 33847245365     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2007.00758.x     Document Type: Letter
Times cited : (6)

References (13)
  • 1
    • 0033646615 scopus 로고    scopus 로고
    • Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome
    • Fang J, Dagenais SL, Erickson RP et al. Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome. Am J Hum Genet 2000: 67: 1382-1388.
    • (2000) Am J Hum Genet , vol.67 , pp. 1382-1388
    • Fang, J.1    Dagenais, S.L.2    Erickson, R.P.3
  • 2
    • 17844375103 scopus 로고    scopus 로고
    • Analysis of lymphoedema distichiasis families for FOXC2 mutations reveals small insertions and deletions throughout the gene
    • Bell R, Brice G, Child AH et al. Analysis of lymphoedema distichiasis families for FOXC2 mutations reveals small insertions and deletions throughout the gene. Hum Genet 2001: 108: 546-551.
    • (2001) Hum Genet , vol.108 , pp. 546-551
    • Bell, R.1    Brice, G.2    Child, A.H.3
  • 3
    • 0034754536 scopus 로고    scopus 로고
    • Clinical heterogeneity in lymphoedema-distichiasis with FOXC2 truncating mutations
    • Erickson R, Dagenais S, Caulder M et al. Clinical heterogeneity in lymphoedema-distichiasis with FOXC2 truncating mutations. J Med Genet 2001: 38: 761-766.
    • (2001) J Med Genet , vol.38 , pp. 761-766
    • Erickson, R.1    Dagenais, S.2    Caulder, M.3
  • 4
    • 18444378418 scopus 로고    scopus 로고
    • Analysis of the phenotypic abnormalities in Lymphoedema Distichiasis Syndrome in 74 patients with FOXC2 mutations or linkage to 16q24
    • Brice G, Mansour S, Bell R et al. Analysis of the phenotypic abnormalities in Lymphoedema Distichiasis Syndrome in 74 patients with FOXC2 mutations or linkage to 16q24. J Med Genet 2002: 39: 478-483.
    • (2002) J Med Genet , vol.39 , pp. 478-483
    • Brice, G.1    Mansour, S.2    Bell, R.3
  • 5
    • 24944446156 scopus 로고    scopus 로고
    • Lymphoedema Distichiasis and FOXC2: Unreported mutations, de novo mutation estimate, families without coding mutations
    • Sholto-Douglas-Vernon C, Bell R, Brice G et al. Lymphoedema Distichiasis and FOXC2: Unreported mutations, de novo mutation estimate, families without coding mutations. Hum Genet 2005: 117: 238-242.
    • (2005) Hum Genet , vol.117 , pp. 238-242
    • Sholto-Douglas-Vernon, C.1    Bell, R.2    Brice, G.3
  • 6
    • 0022416702 scopus 로고
    • The inheritance of primary lymphoedema
    • Dale RF. The inheritance of primary lymphoedema. J Med Genet 1985: 22: 274-278.
    • (1985) J Med Genet , vol.22 , pp. 274-278
    • Dale, R.F.1
  • 7
    • 0014768173 scopus 로고
    • Distichiasis-lymphedema: A hereditary syndrome of multiple congenital defects
    • Robinow M, Johnson GF, Verhagen AD. Distichiasis-lymphedema: A hereditary syndrome of multiple congenital defects. Am Dis Child 1970: 119: 343-347.
    • (1970) Am Dis Child , vol.119 , pp. 343-347
    • Robinow, M.1    Johnson, G.F.2    Verhagen, A.D.3
  • 8
    • 33645053249 scopus 로고    scopus 로고
    • Genes, calcium and modifying factors in hypertrophic cardiomyopathy
    • Tsoutsman T, Lam L, Semsarian C. Genes, calcium and modifying factors in hypertrophic cardiomyopathy. Clin Exp Pharmacol Physiol 2006: 33: 139-145.
    • (2006) Clin Exp Pharmacol Physiol , vol.33 , pp. 139-145
    • Tsoutsman, T.1    Lam, L.2    Semsarian, C.3
  • 10
    • 0035873625 scopus 로고    scopus 로고
    • Truncating mutations in FOXC2 cause multiple lymphedema syndromes
    • Finegold DN, Kimak MA, Lawrence EC et al. Truncating mutations in FOXC2 cause multiple lymphedema syndromes. Hum Mol Genet 2001: 10: 1185-1189.
    • (2001) Hum Mol Genet , vol.10 , pp. 1185-1189
    • Finegold, D.N.1    Kimak, M.A.2    Lawrence, E.C.3
  • 11
    • 0028890643 scopus 로고
    • On genetic heterogeneity, anticipation, and imprinting in polycystic kidney diseases
    • Zerres, K, Rudnik-Schoneborn S. On genetic heterogeneity, anticipation, and imprinting in polycystic kidney diseases. Nephrol Dial Transpl 1995: 10: 7-9.
    • (1995) Nephrol Dial Transpl , vol.10 , pp. 7-9
    • Zerres, K.1    Rudnik-Schoneborn, S.2
  • 12
    • 0031981387 scopus 로고    scopus 로고
    • Prenatal diagnosis of autosomal dominant polycystic kidney disease (PKD1) presenting in utero and prognosis for very early onset disease
    • J Med Genet 38: 761-766
    • MacDermott K, Saggar-Malik AK, Economides DL, Jeffery S. Prenatal diagnosis of autosomal dominant polycystic kidney disease (PKD1) presenting in utero and prognosis for very early onset disease. J Med Genet 1998: 35: 13-16. J Med Genet 38: 761-766.
    • (1998) J Med Genet , vol.38 , pp. 13-16
    • MacDermott, K.1    Saggar-Malik, A.K.2    Economides, D.L.3    Jeffery, S.4
  • 13
    • 30744466710 scopus 로고    scopus 로고
    • Modifier genes and oligogenic disease
    • Agarwal S, Moorchung N. Modifier genes and oligogenic disease. J Nippon Med Sch 2005: 72: 326-34.
    • (2005) J Nippon Med Sch , vol.72 , pp. 326-334
    • Agarwal, S.1    Moorchung, N.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.