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Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema.
Byrne AB, Brouillard P, Sutton DL, Kazenwadel J, Montazaribarforoushi S, Secker GA, Oszmiana A, Babic M, Betterman KL, Brautigan PJ, White M, Piltz SG, Thomas PQ, Hahn CN, Rath M, Felbor U, Korenke GC, Smith CL, Wood KH, Sheppard SE, Adams DM, Kariminejad A, Helaers R, Boon LM, Revencu N, Moore L, Barnett C, Haan E, Arts P, Vikkula M, Scott HS, Harvey NL. Byrne AB, et al. Among authors: brouillard p. Sci Transl Med. 2022 Mar 2;14(634):eabm4869. doi: 10.1126/scitranslmed.abm4869. Epub 2022 Mar 2. Sci Transl Med. 2022. PMID: 35235341
Four common glomulin mutations cause two thirds of glomuvenous malformations ("familial glomangiomas"): evidence for a founder effect.
Brouillard P, Ghassibé M, Penington A, Boon LM, Dompmartin A, Temple IK, Cordisco M, Adams D, Piette F, Harper JI, Syed S, Boralevi F, Taïeb A, Danda S, Baselga E, Enjolras O, Mulliken JB, Vikkula M. Brouillard P, et al. J Med Genet. 2005 Feb;42(2):e13. doi: 10.1136/jmg.2004.024174. J Med Genet. 2005. PMID: 15689436 Free PMC article.
Genetic causes of vascular malformations.
Brouillard P, Vikkula M. Brouillard P, et al. Hum Mol Genet. 2007 Oct 15;16 Spec No. 2:R140-9. doi: 10.1093/hmg/ddm211. Epub 2007 Jul 31. Hum Mol Genet. 2007. PMID: 17670762 Review.
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. Among authors: brouillard p. 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.
55 results