-
1
-
-
0033646615
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
9
-
-
0036954471
-
FOXC2 truncating mutation in distichiasis, lymphedema, and cleft palate
-
Bahuau M, Houdayer C, Tredano M, Soupre V, Couderc R, Vazquez MP. FOXC2 truncating mutation in distichiasis, lymphedema, and cleft palate. Clin Genet 2002: 62: 470-473.
-
(2002)
Clin Genet
, vol.62
, pp. 470-473
-
-
Bahuau, M.1
Houdayer, C.2
Tredano, M.3
Soupre, V.4
Couderc, R.5
Vazquez, M.P.6
-
10
-
-
0035873625
-
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
-
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
-
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
-
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
|