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Page 1
Recessive primary congenital lymphoedema caused by a VEGFR3 mutation.
Ghalamkarpour A, Holnthoner W, Saharinen P, Boon LM, Mulliken JB, Alitalo K, Vikkula M. Ghalamkarpour A, et al. Among authors: vikkula m. J Med Genet. 2009 Jun;46(6):399-404. doi: 10.1136/jmg.2008.064469. Epub 2009 Mar 15. J Med Genet. 2009. PMID: 19289394
Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy.
Ostergaard P, Simpson MA, Mendola A, Vasudevan P, Connell FC, van Impel A, Moore AT, Loeys BL, Ghalamkarpour A, Onoufriadis A, Martinez-Corral I, Devery S, Leroy JG, van Laer L, Singer A, Bialer MG, McEntagart M, Quarrell O, Brice G, Trembath RC, Schulte-Merker S, Makinen T, Vikkula M, Mortimer PS, Mansour S, Jeffery S. Ostergaard P, et al. Among authors: vikkula m. Am J Hum Genet. 2012 Feb 10;90(2):356-62. doi: 10.1016/j.ajhg.2011.12.018. Epub 2012 Jan 26. Am J Hum Genet. 2012. PMID: 22284827 Free PMC article.
Mutations in the VEGFR3 signaling pathway explain 36% of familial lymphedema.
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. Mendola A, et al. Among authors: vikkula m. Mol Syndromol. 2013 Sep;4(6):257-66. doi: 10.1159/000354097. Epub 2013 Aug 21. Mol Syndromol. 2013. PMID: 24167460 Free PMC article.
Antenatal presentation of hereditary lymphedema type I.
Boudon E, Levy Y, Abossolo T, Cartault F, Brouillard P, Vikkula M, Kieffer-Traversier M, Ramful D, Alessandri JL. Boudon E, et al. Among authors: vikkula m. Eur J Med Genet. 2015 Jun-Jul;58(6-7):329-31. doi: 10.1016/j.ejmg.2015.03.006. Epub 2015 Apr 18. Eur J Med Genet. 2015. PMID: 25896638
267 results