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Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy.
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.
Wide clinical spectrum in a family with hereditary lymphedema type I due to a novel missense mutation in VEGFR3.
Spiegel R, Ghalamkarpour A, Daniel-Spiegel E, Vikkula M, A Shalev S.
Spiegel R, et al. Among authors: ghalamkarpour a.
J Hum Genet. 2006;51(10):846-850. doi: 10.1007/s10038-006-0031-3. Epub 2006 Aug 19.
J Hum Genet. 2006.
PMID: 16924388
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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 JB, Boon LM, Vikkula M.
Ghalamkarpour A, et al.
Clin Genet. 2006 Oct;70(4):330-5. doi: 10.1111/j.1399-0004.2006.00687.x.
Clin Genet. 2006.
PMID: 16965327
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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.
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
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Hydrops fetalis: an unusual prenatal presentation of hereditary congenital lymphedema.
Daniel-Spiegel E, Ghalamkarpour A, Spiegel R, Weiner E, Vikkula M, Shalev E, Shalev SA.
Daniel-Spiegel E, et al. Among authors: ghalamkarpour a.
Prenat Diagn. 2005 Nov;25(11):1015-8. doi: 10.1002/pd.1237.
Prenat Diagn. 2005.
PMID: 16231305
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Severe congenital lymphoedema not caused by mutations in known lymphoedema genes.
Greenberger S, Reznik-Wolf H, Ghalamkarpour A, Marek-Yagel D, Vikkula M, Pras E.
Greenberger S, et al. Among authors: ghalamkarpour a.
Br J Dermatol. 2010 Dec;163(6):1358-60. doi: 10.1111/j.1365-2133.2010.10012.x. Epub 2010 Nov 4.
Br J Dermatol. 2010.
PMID: 20804492
No abstract available.
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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: ghalamkarpour a.
Mol Syndromol. 2013 Sep;4(6):257-66. doi: 10.1159/000354097. Epub 2013 Aug 21.
Mol Syndromol. 2013.
PMID: 24167460
Free PMC article.
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Sporadic in utero generalized edema caused by mutations in the lymphangiogenic genes VEGFR3 and FOXC2.
Ghalamkarpour A, Debauche C, Haan E, Van Regemorter N, Sznajer Y, Thomas D, Revencu N, Gillerot Y, Boon LM, Vikkula M.
Ghalamkarpour A, et al.
J Pediatr. 2009 Jul;155(1):90-3. doi: 10.1016/j.jpeds.2009.02.023. Epub 2009 Apr 25.
J Pediatr. 2009.
PMID: 19394045
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