| 1 | FLT4, HLMN1
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| A novel FLT4 mutation identified in a patient with Milroy disease.
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| DiGiovanni RM, Erickson RP, Ohlson EC, Bernas M, Witte MH.
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| Lymphology 47(1):44-7.
2014
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| 2 | FLT4, HLMN1
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| FLT4/VEGFR3 and Milroy disease: novel mutations, a review of published variants and database update.
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| Gordon K, Spiden SL, Connell FC, Brice G, Cottrell S, Short J, Taylor R, Jeffery S, Mortimer PS, Mansour S, Ostergaard P.
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| Hum Mutat 34(1):23-31. doi: 10.1002/humu.22223. Epub 2012 Oct 16. Review.
2013
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| 3 | FLT4, HLMN1, PCLD
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| Mutations in the VEGFR3 signaling pathway explain 36% of familial lymphedema.
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| Mendola A, Schlögel MJ, Ghalamkarpour A, Irrthum A, Nguyen HL, Fastré E, Bygum A, van der Vleuten C, Fagerberg C, Baselga E, Quere I, Mulliken JB, Boon LM, Brouillard P, Vikkula M; Lymphedema Research Group.
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| Mol Syndromol 4(6):257-66. doi: 10.1159/000354097. Epub 2013 Aug 21.
2013
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| 4 | FLT4, HLMN1
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| Three children with Milroy disease and de novo mutations in VEGFR3.
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| Carver C, Brice G, Mansour S, Ostergaard P, Mortimer P, Jeffery S.
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| Clin Genet 71(2):187-9. No abstract available. 2007
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| 5 | HLMN1, FLT4
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| Hereditary lymphedema type I associated with VEGFR3 mutation: the first de novo case and atypical presentations.
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| Ghalamkarpour A, Morlot S, Raas-Rothschild A, Utkus A, Mulliken JB, Boon LM, Vikkula M.
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| Clin Genet 70(4):330-5. 2006
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| 6 | HLMN1, FLT4
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| Milroy disease and the VEGFR-3 mutation phenotype.
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| Brice G, Child AH, Evans A, Bell R, Mansour S, Burnand K, Sarfarazi M, Jeffery S, Mortimer P.
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| J Med Genet 42(2):98-102. 2005
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| 7 | HLMN1, FLT4
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| Identification of eight novel VEGFR-3 mutations in families with primary congenital lymphoedema.
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| Evans AL, Bell R, Brice G, Comeglio P, Lipede C, Jeffery S, Mortimer P, Sarfarazi M, Child AH.
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| J Med Genet 40(9):697-703. No abstract available. 2003
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| 8 | FLT4, HLMN1
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| Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema.
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| Karkkainen MJ, Ferrell RE, Lawrence EC, Kimak MA, Levinson KL, McTigue MA, Alitalo K, Finegold DN.
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| Nat Genet 25(2):153-9. 2000
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| 9 | FLT4, HLMN1
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| Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase.
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| Irrthum A, Karkkainen MJ, Devriendt K, Alitalo K, Vikkula M.
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| Am J Hum Genet 67(2):295-301. 2000
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| 10 | HLMN1, HNRNPH1
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| Mapping of primary congenital lymphedema to the 5q35.3 region.
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| Evans AL, Brice G, Sotirova V, Mortimer P, Beninson J, Burnand K, Rosbotham J, Child A, Sarfarazi M.
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| Am J Hum Genet 64(2):547-55. 1999
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| 11 | FLT4, HLMN1
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| Hereditary lymphedema : evidence for linkage and genetic heterogeneity.
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| Ferrell RE, Levinson KL, Esman JH, Kimak MA, Lawrence EC, Barmada MM, Finegold DN.
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| Hum Mol Genet 7 : 2073-2078. 1998
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