-
2
-
-
34447135419
-
Hydrops fetalis: a retrospective review of cases reported to a large national database and identification of risk factors associated with death
-
Abrams M.E., Meredith K.S., Kinnard P., and Clark R.H. Hydrops fetalis: a retrospective review of cases reported to a large national database and identification of risk factors associated with death. Pediatrics 120 (2007) 84-89
-
(2007)
Pediatrics
, vol.120
, pp. 84-89
-
-
Abrams, M.E.1
Meredith, K.S.2
Kinnard, P.3
Clark, R.H.4
-
3
-
-
0033646615
-
Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome
-
Fang J., Dagenais S.L., Erickson R.P., Arlt M.F., Glynn M.W., Gorski J.L., et al. Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome. Am J Hum Genet 67 (2000) 1382-1388
-
(2000)
Am J Hum Genet
, vol.67
, pp. 1382-1388
-
-
Fang, J.1
Dagenais, S.L.2
Erickson, R.P.3
Arlt, M.F.4
Glynn, M.W.5
Gorski, J.L.6
-
4
-
-
0033862310
-
Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase
-
Irrthum A., Karkkainen M.J., Devriendt K., Alitalo K., and Vikkula M. Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase. Am J Hum Genet 67 (2000) 295-301
-
(2000)
Am J Hum Genet
, vol.67
, pp. 295-301
-
-
Irrthum, A.1
Karkkainen, M.J.2
Devriendt, K.3
Alitalo, K.4
Vikkula, M.5
-
5
-
-
0034041161
-
Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema
-
Karkkainen M.J., Ferrell R.E., Lawrence E.C., Kimak M.A., Levinson K.L., McTigue M.A., et al. Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema. Nat Genet 25 (2000) 153-159
-
(2000)
Nat Genet
, vol.25
, pp. 153-159
-
-
Karkkainen, M.J.1
Ferrell, R.E.2
Lawrence, E.C.3
Kimak, M.A.4
Levinson, K.L.5
McTigue, M.A.6
-
6
-
-
0038353732
-
Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia
-
Irrthum A., Devriendt K., Chitayat D., Matthijs G., Glade C., Steijlen P.M., et al. Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia. Am J Hum Genet 72 (2003) 1470-1478
-
(2003)
Am J Hum Genet
, vol.72
, pp. 1470-1478
-
-
Irrthum, A.1
Devriendt, K.2
Chitayat, D.3
Matthijs, G.4
Glade, C.5
Steijlen, P.M.6
-
7
-
-
28544444994
-
Hydrops fetalis: an unusual prenatal presentation of hereditary congenital lymphedema
-
Daniel-Spiegel E., Ghalamkarpour A., Spiegel R., Weiner E., Vikkula M., Shalev E., et al. Hydrops fetalis: an unusual prenatal presentation of hereditary congenital lymphedema. Prenat Diagn 25 (2005) 1015-1018
-
(2005)
Prenat Diagn
, vol.25
, pp. 1015-1018
-
-
Daniel-Spiegel, E.1
Ghalamkarpour, A.2
Spiegel, R.3
Weiner, E.4
Vikkula, M.5
Shalev, E.6
-
8
-
-
33748325955
-
Hereditary lymphedema type I associated with VEGFR3 mutation: the first de novo case and atypical presentations
-
Ghalamkarpour A., Morlot S., Raas-Rothschild A., Utkus A., Mulliken J.B., Boon L.M., et al. Hereditary lymphedema type I associated with VEGFR3 mutation: the first de novo case and atypical presentations. Clin Genet 70 (2006) 330-335
-
(2006)
Clin Genet
, vol.70
, pp. 330-335
-
-
Ghalamkarpour, A.1
Morlot, S.2
Raas-Rothschild, A.3
Utkus, A.4
Mulliken, J.B.5
Boon, L.M.6
-
9
-
-
0035869223
-
Prediction of deleterious human alleles
-
Sunyaev S., Ramensky V., Koch I., Lathe III W., Kondrashov A.S., and Bork P. Prediction of deleterious human alleles. Hum Mol Genet 10 (2001) 591-597
-
(2001)
Hum Mol Genet
, vol.10
, pp. 591-597
-
-
Sunyaev, S.1
Ramensky, V.2
Koch, I.3
Lathe III, W.4
Kondrashov, A.S.5
Bork, P.6
-
10
-
-
0141742293
-
PANTHER: a library of protein families and subfamilies indexed by function
-
Thomas P.D., Campbell M.J., Kejariwal A., Mi H., Karlak B., Daverman R., et al. PANTHER: a library of protein families and subfamilies indexed by function. Genome Res 13 (2003) 2129-2141
-
(2003)
Genome Res
, vol.13
, pp. 2129-2141
-
-
Thomas, P.D.1
Campbell, M.J.2
Kejariwal, A.3
Mi, H.4
Karlak, B.5
Daverman, R.6
-
11
-
-
0033358664
-
A gene for inherited cutaneous venous anomalies ("glomangiomas") localizes to chromosome 1p21-22
-
Boon L.M., Brouillard P., Irrthum A., Karttunen L., Warman M.L., Rudolph R., et al. A gene for inherited cutaneous venous anomalies ("glomangiomas") localizes to chromosome 1p21-22. Am J Hum Genet 65 (1999) 125-133
-
(1999)
Am J Hum Genet
, vol.65
, pp. 125-133
-
-
Boon, L.M.1
Brouillard, P.2
Irrthum, A.3
Karttunen, L.4
Warman, M.L.5
Rudolph, R.6
-
12
-
-
0042329924
-
Identification of eight novel VEGFR-3 mutations in families with primary congenital lymphoedema
-
Evans A.L., Bell R., Brice G., Comeglio P., Lipede C., Jeffery S., et al. Identification of eight novel VEGFR-3 mutations in families with primary congenital lymphoedema. J Med Genet 40 (2003) 697-703
-
(2003)
J Med Genet
, vol.40
, pp. 697-703
-
-
Evans, A.L.1
Bell, R.2
Brice, G.3
Comeglio, P.4
Lipede, C.5
Jeffery, S.6
-
13
-
-
33846685871
-
Three children with Milroy disease and de novo mutations in VEGFR3
-
Carver C., Brice G., Mansour S., Ostergaard P., Mortimer P., and Jeffery S. Three children with Milroy disease and de novo mutations in VEGFR3. Clin Genet 71 (2007) 187-189
-
(2007)
Clin Genet
, vol.71
, pp. 187-189
-
-
Carver, C.1
Brice, G.2
Mansour, S.3
Ostergaard, P.4
Mortimer, P.5
Jeffery, S.6
-
15
-
-
0035940403
-
A model for gene therapy of human hereditary lymphedema
-
Karkkainen M.J., Saaristo A., Jussila L., Karila K.A., Lawrence E.C., Pajusola K., et al. A model for gene therapy of human hereditary lymphedema. Proc Natl Acad Sci U S A 98 (2001) 12677-12682
-
(2001)
Proc Natl Acad Sci U S A
, vol.98
, pp. 12677-12682
-
-
Karkkainen, M.J.1
Saaristo, A.2
Jussila, L.3
Karila, K.A.4
Lawrence, E.C.5
Pajusola, K.6
-
16
-
-
13444254036
-
Milroy disease and the VEGFR-3 mutation phenotype
-
Brice G., Child A.H., Evans A., Bell R., Mansour S., Burnand K., Sarfarazi M., Jeffery S., and Mortimer P. Milroy disease and the VEGFR-3 mutation phenotype. J Med Genet 42 (2005) 98-102
-
(2005)
J Med Genet
, vol.42
, pp. 98-102
-
-
Brice, G.1
Child, A.H.2
Evans, A.3
Bell, R.4
Mansour, S.5
Burnand, K.6
Sarfarazi, M.7
Jeffery, S.8
Mortimer, P.9
-
17
-
-
24944446156
-
Lymphoedema-distichiasis and FOXC2: unreported mutations, de novo mutation estimate, families without coding mutations
-
Sholto-Douglas-Vernon C., Bell R., Brice G., Mansour S., Sarfarazi M., Child A.H., et al. Lymphoedema-distichiasis and FOXC2: unreported mutations, de novo mutation estimate, families without coding mutations. Hum Genet 117 (2005) 238-242
-
(2005)
Hum Genet
, vol.117
, pp. 238-242
-
-
Sholto-Douglas-Vernon, C.1
Bell, R.2
Brice, G.3
Mansour, S.4
Sarfarazi, M.5
Child, A.H.6
-
18
-
-
0034754536
-
Clinical heterogeneity in lymphoedema-distichiasis with FOXC2 truncating mutations
-
Erickson R.P., Dagenais S.L., Caulder M.S., Downs C.A., Herman G., Jones M.C., et al. Clinical heterogeneity in lymphoedema-distichiasis with FOXC2 truncating mutations. J Med Genet 38 (2001) 761-766
-
(2001)
J Med Genet
, vol.38
, pp. 761-766
-
-
Erickson, R.P.1
Dagenais, S.L.2
Caulder, M.S.3
Downs, C.A.4
Herman, G.5
Jones, M.C.6
-
19
-
-
0035873625
-
Truncating mutations in FOXC2 cause multiple lymphedema syndromes
-
Finegold D.N., Kimak M.A., Lawrence E.C., Levinson K.L., Cherniske E.M., Pober B.R., et al. Truncating mutations in FOXC2 cause multiple lymphedema syndromes. Hum Mol Genet 10 (2001) 1185-1189
-
(2001)
Hum Mol Genet
, vol.10
, pp. 1185-1189
-
-
Finegold, D.N.1
Kimak, M.A.2
Lawrence, E.C.3
Levinson, K.L.4
Cherniske, E.M.5
Pober, B.R.6
-
20
-
-
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., Collin J.R., Child A.H., Brady A.F., et al. Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24. J Med Genet 39 (2002) 478-483
-
(2002)
J Med Genet
, vol.39
, pp. 478-483
-
-
Brice, G.1
Mansour, S.2
Bell, R.3
Collin, J.R.4
Child, A.H.5
Brady, A.F.6
-
21
-
-
0028928155
-
Non-immune hydrops after 20 weeks' gestation: review of 10 years' experience with suggestions for management
-
McCoy M.C., Katz V.L., Gould N., and Kuller J.A. Non-immune hydrops after 20 weeks' gestation: review of 10 years' experience with suggestions for management. Obstet Gynecol 85 (1995) 578-582
-
(1995)
Obstet Gynecol
, vol.85
, pp. 578-582
-
-
McCoy, M.C.1
Katz, V.L.2
Gould, N.3
Kuller, J.A.4
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