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Hereditary cutaneomucosal venous malformations are caused by TIE2 mutations with widely variable hyper-phosphorylating effects.
Wouters V, Limaye N, Uebelhoer M, Irrthum A, Boon LM, Mulliken JB, Enjolras O, Baselga E, Berg J, Dompmartin A, Ivarsson SA, Kangesu L, Lacassie Y, Murphy J, Teebi AS, Penington A, Rieu P, Vikkula M. Wouters V, et al. Eur J Hum Genet. 2010 Apr;18(4):414-20. doi: 10.1038/ejhg.2009.193. Epub 2009 Nov 4. Eur J Hum Genet. 2010. PMID: 19888299 Free PMC article.
From blue jeans to blue genes.
Boon LM, Vikkula M. Boon LM, et al. J Craniofac Surg. 2009 Mar;20 Suppl 1(Suppl 1):703-6. doi: 10.1097/SCS.0b013e318193d7a0. J Craniofac Surg. 2009. PMID: 19190503 Free PMC article.
Association of localized intravascular coagulopathy with venous malformations.
Dompmartin A, Acher A, Thibon P, Tourbach S, Hermans C, Deneys V, Pocock B, Lequerrec A, Labbé D, Barrellier MT, Vanwijck R, Vikkula M, Boon LM. Dompmartin A, et al. Arch Dermatol. 2008 Jul;144(7):873-7. doi: 10.1001/archderm.144.7.873. Arch Dermatol. 2008. PMID: 18645138 Free PMC article.
Elevated D-dimer level in the differential diagnosis of venous malformations.
Dompmartin A, Ballieux F, Thibon P, Lequerrec A, Hermans C, Clapuyt P, Barrellier MT, Hammer F, Labbé D, Vikkula M, Boon LM. Dompmartin A, et al. Arch Dermatol. 2009 Nov;145(11):1239-44. doi: 10.1001/archdermatol.2009.296. Arch Dermatol. 2009. PMID: 19917952 Free PMC article.