-
1
-
-
84902551883
-
A novel stop mutation in the vascular endothelial growth factor-C gene (VEGFC) results in Milroy-like disease
-
Balboa-Beltran E, Fernandez-Seara MJ, Perez-Munuzuri A, Lago R, Garcia-Magan C, Couce ML, et al. A novel stop mutation in the vascular endothelial growth factor-C gene (VEGFC) results in Milroy-like disease. J Med Genet. 2014;51(7):475–8.
-
(2014)
J Med Genet
, vol.51
, Issue.7
, pp. 475-478
-
-
Balboa-Beltran, E.1
Fernandez-Seara, M.J.2
Perez-Munuzuri, A.3
Lago, R.4
Garcia-Magan, C.5
Couce, M.L.6
-
2
-
-
84871611836
-
FLT4/VEGFR3 and Milroy disease: Novel mutations, a review of published variants and database update
-
Gordon K, Spiden SL, Connell FC, Brice G, Cottrell S, Short J, et al. FLT4/VEGFR3 and Milroy disease: novel mutations, a review of published variants and database update. Hum Mutat. 2013;34(1):23–31.
-
(2013)
Hum Mutat
, vol.34
, Issue.1
, pp. 23-31
-
-
Gordon, K.1
Spiden, S.L.2
Connell, F.C.3
Brice, G.4
Cottrell, S.5
Short, J.6
-
3
-
-
77953070816
-
A new classification system for primary lymphatic dysplasias based on phenotype
-
Connell F, Brice G, Jeffery S, Keeley V, Mortimer P, Mansour S. A new classification system for primary lymphatic dysplasias based on phenotype. Clin Genet. 2010;77(5):438–52.
-
(2010)
Clin Genet
, vol.77
, Issue.5
, pp. 438-452
-
-
Connell, F.1
Brice, G.2
Jeffery, S.3
Keeley, V.4
Mortimer, P.5
Mansour, S.6
-
4
-
-
0035873625
-
Truncating mutations in FOXC2 cause multiple lymphedema syndromes
-
Finegold DN, Kimak MA, Lawrence EC, Levinson KL, Cherniske EM, Pober BR, et al. Truncating mutations in FOXC2 cause multiple lymphedema syndromes. Hum Mol Genet. 2001;10(11):1185–9.
-
(2001)
Hum Mol Genet
, vol.10
, Issue.11
, 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
-
5
-
-
77953120512
-
GJC2 missense mutations cause human lymphedema
-
Ferrell RE, Baty CJ, Kimak MA, Karlsson JM, Lawrence EC, Franke-Snyder M, et al. GJC2 missense mutations cause human lymphedema. Am J Hum Genet. 2010;86(6):943–8.
-
(2010)
Am J Hum Genet
, vol.86
, Issue.6
, pp. 943-948
-
-
Ferrell, R.E.1
Baty, C.J.2
Kimak, M.A.3
Karlsson, J.M.4
Lawrence, E.C.5
Franke-Snyder, M.6
-
6
-
-
84883751811
-
A novel mutation in GJA1 causing oculodentodigital syndrome and primary lymphoedema in a three generation family
-
Brice G, Ostergaard P, Jeffery S, Gordon K, Mortimer PS, Mansour S. A novel mutation in GJA1 causing oculodentodigital syndrome and primary lymphoedema in a three generation family. Clin Genet. 2013;84(4):378–81.
-
(2013)
Clin Genet
, vol.84
, Issue.4
, pp. 378-381
-
-
Brice, G.1
Ostergaard, P.2
Jeffery, S.3
Gordon, K.4
Mortimer, P.S.5
Mansour, S.6
-
7
-
-
84907424460
-
Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Malder gem syndrome
-
Alders M, Al-Gazali L, Cordeiro I, Dallapiccola B, Garavelli L, Tuysuz B, et al. Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Malder gem syndrome. Hum Genet. 2014;133(9):1161–7.
-
(2014)
Hum Genet
, vol.133
, Issue.9
, pp. 1161-1167
-
-
Alders, M.1
Al-Gazali, L.2
Cordeiro, I.3
Dallapiccola, B.4
Garavelli, L.5
Tuysuz, B.6
-
8
-
-
84894095710
-
GATA2 deficiency: A protean disorder of hematopoiesis, lymphatics, and immunity
-
Spinner MA, Sanchez LA, Hsu AP, Shaw PA, Zerbe CS, Calvo KR, et al. GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity. Blood. 2014;123(6):809–21.
-
(2014)
Blood
, vol.123
, Issue.6
, pp. 809-821
-
-
Spinner, M.A.1
Sanchez, L.A.2
Hsu, A.P.3
Shaw, P.A.4
Zerbe, C.S.5
Calvo, K.R.6
-
9
-
-
84862666587
-
Diagnosis and treatment in anhidrotic ectodermal dysplasia with immunodeficiency
-
Kawai T, Nishikomori R, Heike T. Diagnosis and treatment in anhidrotic ectodermal dysplasia with immunodeficiency. Allergol Int. 2012;61(2):207–17.
-
(2012)
Allergol Int
, vol.61
, Issue.2
, pp. 207-217
-
-
Kawai, T.1
Nishikomori, R.2
Heike, T.3
-
10
-
-
77956385127
-
Protein tyrosine phosphatase PTPN14 is a regulator of lymphatic function and choanal development in humans
-
Au AC, Hernandez PA, Lieber E, Nadroo AM, Shen YM, Kelley KA, et al. Protein tyrosine phosphatase PTPN14 is a regulator of lymphatic function and choanal development in humans. Am J Hum Genet. 2010;87(3):436–44.
-
(2010)
Am J Hum Genet
, vol.87
, Issue.3
, pp. 436-444
-
-
Au, A.C.1
Hernandez, P.A.2
Lieber, E.3
Nadroo, A.M.4
Shen, Y.M.5
Kelley, K.A.6
-
11
-
-
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 PM, et al. Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema- telangiectasia. Am J Hum Genet. 2003;72(6):1470–8.
-
(2003)
Am J Hum Genet
, vol.72
, Issue.6
, pp. 1470-1478
-
-
Irrthum, A.1
Devriendt, K.2
Chitayat, D.3
Matthijs, G.4
Glade, C.5
Steijlen, P.M.6
-
12
-
-
84925239689
-
Hypotrichosis-lymphedematelangiectasia-renal defect associated with a truncating mutation in the SOX18 gene
-
Article first published online: 16 APR 2014
-
Moalem S, Brouillard P, Kuypers D, Legius E, Harvey E, Taylor G, et al. Hypotrichosis-lymphedematelangiectasia-renal defect associated with a truncating mutation in the SOX18 gene. Clin Genet. 2014. Article first published online: 16 APR 2014, DOI: 10.1111/cge.12388.
-
(2014)
Clin Genet
-
-
Moalem, S.1
Brouillard, P.2
Kuypers, D.3
Legius, E.4
Harvey, E.5
Taylor, G.6
-
13
-
-
84899985965
-
Lymphedema in tuberous sclerosis complex
-
Geffrey AL, Shinnick JE, Staley BA, Boronat S, Thiele EA. Lymphedema in tuberous sclerosis complex. Am J Med Genet A. 2014;164A(6):1438–42.
-
(2014)
Am J Med Genet A
, vol.164
, Issue.6
, pp. 1438-1442
-
-
Geffrey, A.L.1
Shinnick, J.E.2
Staley, B.A.3
Boronat, S.4
Thiele, E.A.5
-
15
-
-
77957693114
-
Noonan syndrome: Clinical features, diagnosis, and management guidelines
-
Romano AA, Allanson JE, Dahlgren J, Gelb BD, Hall B, Pierpont ME, et al. Noonan syndrome: clinical features, diagnosis, and management guidelines. Pediatrics. 2010;126(4):746–59.
-
(2010)
Pediatrics
, vol.126
, Issue.4
, pp. 746-759
-
-
Romano, A.A.1
Allanson, J.E.2
Dahlgren, J.3
Gelb, B.D.4
Hall, B.5
Pierpont, M.E.6
-
16
-
-
4544347706
-
Turner’s syndrome
-
Sybert VP, McCauley E. Turner’s syndrome. N Engl J Med. 2004;351(12):1227–38.
-
(2004)
N Engl J Med
, vol.351
, Issue.12
, pp. 1227-1238
-
-
Sybert, V.P.1
McCauley, E.2
-
17
-
-
84887617105
-
RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation
-
Revencu N, Boon LM, Mendola A, Cordisco MR, Dubois J, Clapuyt P, et al. RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation. Hum Mutat. 2013;34(12):1632–41.
-
(2013)
Hum Mutat
, vol.34
, Issue.12
, pp. 1632-1641
-
-
Revencu, N.1
Boon, L.M.2
Mendola, A.3
Cordisco, M.R.4
Dubois, J.5
Clapuyt, P.6
-
18
-
-
84878161265
-
Lymphatic abnormalities are associated with RASA1 gene mutations in mouse and man
-
Burrows PE, Gonzalez-Garay ML, Rasmussen JC, Aldrich MB, Guilliod R, Maus EA, et al. Lymphatic abnormalities are associated with RASA1 gene mutations in mouse and man. Proc Natl Acad Sci U S A. 2013;110(21):8621–6.
-
(2013)
Proc Natl Acad Sci U S A
, vol.110
, Issue.21
, pp. 8621-8626
-
-
Burrows, P.E.1
Gonzalez-Garay, M.L.2
Rasmussen, J.C.3
Aldrich, M.B.4
Guilliod, R.5
Maus, E.A.6
-
19
-
-
84883738185
-
Mutations in the VEGFR3 signaling pathway explain 36% of familial lymphedema
-
Mendola A, Schlogel MJ, Ghalamkarpour A, Irrthum A, Nguyen HL, Fastre E, et al. Mutations in the VEGFR3 signaling pathway explain 36% of familial lymphedema. Mol Syndromol. 2013;4(6):257–66.
-
(2013)
Mol Syndromol
, vol.4
, Issue.6
, pp. 257-266
-
-
Mendola, A.1
Schlogel, M.J.2
Ghalamkarpour, A.3
Irrthum, A.4
Nguyen, H.L.5
Fastre, E.6
-
20
-
-
84892757571
-
Diagnosis of Noonan syndrome and related disorders using target next generation sequencing
-
Lepri FR, Scavelli R, Digilio MC, Gnazzo M, Grotta S, Dentici ML, et al. Diagnosis of Noonan syndrome and related disorders using target next generation sequencing. BMC Med Genet. 2014;15:14.
-
(2014)
BMC Med Genet
, vol.15
, pp. 14
-
-
Lepri, F.R.1
Scavelli, R.2
Digilio, M.C.3
Gnazzo, M.4
Grotta, S.5
Dentici, M.L.6
-
22
-
-
84886769145
-
Phosphorylation regulates FOXC2- mediated transcription in lymphatic endothelial cells
-
Ivanov KI, Agalarov Y, Valmu L, Samuilova O, Liebl J, Houhou N, et al. Phosphorylation regulates FOXC2- mediated transcription in lymphatic endothelial cells. Mol Cell Biol. 2013;33(19):3749–61.
-
(2013)
Mol Cell Biol
, vol.33
, Issue.19
, pp. 3749-3761
-
-
Ivanov, K.I.1
Agalarov, Y.2
Valmu, L.3
Samuilova, O.4
Liebl, J.5
Houhou, N.6
-
23
-
-
80052673140
-
The manipulation of miRNA-gene regulatory networks by KSHV induces endothelial cell motility
-
Wu YH, Hu TF, Chen YC, Tsai YN, Tsai YH, Cheng CC, et al. The manipulation of miRNA-gene regulatory networks by KSHV induces endothelial cell motility. Blood. 2011;118(10):2896–905.
-
(2011)
Blood
, vol.118
, Issue.10
, pp. 2896-2905
-
-
Wu, Y.H.1
Hu, T.F.2
Chen, Y.C.3
Tsai, Y.N.4
Tsai, Y.H.5
Cheng, C.C.6
-
24
-
-
84896715993
-
Lymphatic vessel abnormalities arising from disorders of Ras signal transduction
-
Sevick-Muraca EM, King PD. Lymphatic vessel abnormalities arising from disorders of Ras signal transduction. Trends Cardiovasc Med. 2014;24(3): 121–7.
-
(2014)
Trends Cardiovasc Med
, vol.24
, Issue.3
, pp. 121-127
-
-
Sevick-Muraca, E.M.1
King, P.D.2
-
25
-
-
40849111494
-
Dramatic reduction of chronic lymphoedema of the lower limb with sorafenib therapy
-
Moncrieff M, Shannon K, Hong A, Hersey P, Thompson J. Dramatic reduction of chronic lymphoedema of the lower limb with sorafenib therapy. Melanoma Res. 2008;18(2):161–2.
-
(2008)
Melanoma Res
, vol.18
, Issue.2
, pp. 161-162
-
-
Moncrieff, M.1
Shannon, K.2
Hong, A.3
Hersey, P.4
Thompson, J.5
-
26
-
-
84876297899
-
Lymph node transfer and perinodal lymphatic growth factor treatment for lymphedema
-
Honkonen KM, Visuri MT, Tervala TV, Halonen PJ, Koivisto M, Lahteenvuo MT, et al. Lymph node transfer and perinodal lymphatic growth factor treatment for lymphedema. Ann Surg. 2013;257(5):961–7.
-
(2013)
Ann Surg
, vol.257
, Issue.5
, pp. 961-967
-
-
Honkonen, K.M.1
Visuri, M.T.2
Tervala, T.V.3
Halonen, P.J.4
Koivisto, M.5
Lahteenvuo, M.T.6
-
27
-
-
33748670727
-
Transfection of human hepatocyte growth factor gene ameliorates secondary lymphedema via promotion of lymphangiogenesis
-
Saito Y, Nakagami H, Morishita R, Takami Y, Kikuchi Y, Hayashi H, et al. Transfection of human hepatocyte growth factor gene ameliorates secondary lymphedema via promotion of lymphangiogenesis. Circulation. 2006;114(11):1177–84.
-
(2006)
Circulation
, vol.114
, Issue.11
, pp. 1177-1184
-
-
Saito, Y.1
Nakagami, H.2
Morishita, R.3
Takami, Y.4
Kikuchi, Y.5
Hayashi, H.6
-
28
-
-
84859867164
-
Connexin 47 mutations increase risk for secondary lymphedema following breast cancer treatment
-
Finegold DN, Baty CJ, Knickelbein KZ, Perschke S, Noon SE, Campbell D, et al. Connexin 47 mutations increase risk for secondary lymphedema following breast cancer treatment. Clin Cancer Res. 2012;18(8):2382–90.
-
(2012)
Clin Cancer Res
, vol.18
, Issue.8
, pp. 2382-2390
-
-
Finegold, D.N.1
Baty, C.J.2
Knickelbein, K.Z.3
Perschke, S.4
Noon, S.E.5
Campbell, D.6
-
29
-
-
84876180106
-
Lymphatic and angiogenic candidate genes predict the development of secondary lymphedema following breast cancer surgery
-
Miaskowski C, Dodd M, Paul SM, West C, Hamolsky D, Abrams G, et al. Lymphatic and angiogenic candidate genes predict the development of secondary lymphedema following breast cancer surgery. PLoS One. 2013;8(4):e60164.
-
(2013)
Plos One
, vol.8
, Issue.4
-
-
Miaskowski, C.1
Dodd, M.2
Paul, S.M.3
West, C.4
Hamolsky, D.5
Abrams, G.6
|