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Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations.
Revencu N, Boon LM, Mulliken JB, Enjolras O, Cordisco MR, Burrows PE, Clapuyt P, Hammer F, Dubois J, Baselga E, Brancati F, Carder R, Quintal JM, Dallapiccola B, Fischer G, Frieden IJ, Garzon M, Harper J, Johnson-Patel J, Labrèze C, Martorell L, Paltiel HJ, Pohl A, Prendiville J, Quere I, Siegel DH, Valente EM, Van Hagen A, Van Hest L, Vaux KK, Vicente A, Weibel L, Chitayat D, Vikkula M. Revencu N, et al. Among authors: boon lm. Hum Mutat. 2008 Jul;29(7):959-65. doi: 10.1002/humu.20746. Hum Mutat. 2008. PMID: 18446851 Free 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.
Somatic uniparental isodisomy explains multifocality of glomuvenous malformations.
Amyere M, Aerts V, Brouillard P, McIntyre BA, Duhoux FP, Wassef M, Enjolras O, Mulliken JB, Devuyst O, Antoine-Poirel H, Boon LM, Vikkula M. Amyere M, et al. Am J Hum Genet. 2013 Feb 7;92(2):188-96. doi: 10.1016/j.ajhg.2012.12.017. Epub 2013 Jan 31. Am J Hum Genet. 2013. PMID: 23375657 Free PMC article.
603 results