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Unmasking familial CPX by WES and identification of novel clinical signs.

Demeer B, Revencu N, Helaers R, Devauchelle B, François G, Bayet B, Vikkula M.

Am J Med Genet A. 2018 Nov 21:e40630. doi: 10.1002/ajmg.a.40630. [Epub ahead of print]


Prevalence of pathogenic variants and variants of unknown significance in patients at high risk of breast cancer: A systematic review and meta-analysis of gene-panel data.

van Marcke C, Collard A, Vikkula M, Duhoux FP.

Crit Rev Oncol Hematol. 2018 Dec;132:138-144. doi: 10.1016/j.critrevonc.2018.09.009. Epub 2018 Sep 14. Review.


Sirolimus is efficacious in treatment for extensive and/or complex slow-flow vascular malformations: a monocentric prospective phase II study.

Hammer J, Seront E, Duez S, Dupont S, Van Damme A, Schmitz S, Hoyoux C, Chopinet C, Clapuyt P, Hammer F, Vikkula M, Boon LM.

Orphanet J Rare Dis. 2018 Oct 29;13(1):191. doi: 10.1186/s13023-018-0934-z.


Angiosarcoma arising from congenital primary lymphedema.

Janssens P, Dekeuleneer V, Van Damme A, Brouillard P, Revencu N, Clapuyt P, Ferreira I, Ballieux F, Vikkula M, Marot L, Baeck M, Boon LM.

Pediatr Dermatol. 2018 Nov;35(6):e382-e388. doi: 10.1111/pde.13664. Epub 2018 Sep 14.


Genomics of Fibromuscular Dysplasia.

Di Monaco S, Georges A, Lengelé JP, Vikkula M, Persu A.

Int J Mol Sci. 2018 May 21;19(5). pii: E1526. doi: 10.3390/ijms19051526. Review.


Incidence of Cellulitis among Children with Primary Lymphedema.

Quéré I, Nagot N, Vikkula M.

N Engl J Med. 2018 May 24;378(21):2047-2048. doi: 10.1056/NEJMc1802399. No abstract available.


A20 critically controls microglia activation and inhibits inflammasome-dependent neuroinflammation.

Voet S, Mc Guire C, Hagemeyer N, Martens A, Schroeder A, Wieghofer P, Daems C, Staszewski O, Vande Walle L, Jordao MJC, Sze M, Vikkula HK, Demeestere D, Van Imschoot G, Scott CL, Hoste E, Gonçalves A, Guilliams M, Lippens S, Libert C, Vandenbroucke RE, Kim KW, Jung S, Callaerts-Vegh Z, Callaerts P, de Wit J, Lamkanfi M, Prinz M, van Loo G.

Nat Commun. 2018 May 23;9(1):2036. doi: 10.1038/s41467-018-04376-5.


Multiple Cutaneous and Mucosal Venous Malformations.

Boon LM, Vikkula M.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2008 Sep 18 [updated 2018 May 17].


Splice-site mutations in VEGFC cause loss of function and Nonne-Milroy-like primary lymphedema.

Fastré E, Lanteigne LE, Helaers R, Giacalone G, Revencu N, Dionyssiou D, Demiri E, Brouillard P, Vikkula M.

Clin Genet. 2018 Jul;94(1):179-181. doi: 10.1111/cge.13204. Epub 2018 Mar 15. No abstract available.


Improved diagnosis in nonimmune hydrops fetalis using a standardized algorithm.

Laterre M, Bernard P, Vikkula M, Sznajer Y.

Prenat Diagn. 2018 Apr;38(5):337-343. doi: 10.1002/pd.5243. Epub 2018 Mar 23. No abstract available.


Whole exome sequencing identifies mutations in 10% of patients with familial non-syndromic cleft lip and/or palate in genes mutated in well-known syndromes.

Basha M, Demeer B, Revencu N, Helaers R, Theys S, Bou Saba S, Boute O, Devauchelle B, Francois G, Bayet B, Vikkula M.

J Med Genet. 2018 Jul;55(7):449-458. doi: 10.1136/jmedgenet-2017-105110. Epub 2018 Mar 2.


Etiology and Genetics of Congenital Vascular Lesions.

Queisser A, Boon LM, Vikkula M.

Otolaryngol Clin North Am. 2018 Feb;51(1):41-53. doi: 10.1016/j.otc.2017.09.006. Review.


Venous Malformations of the Head and Neck.

Seront E, Vikkula M, Boon LM.

Otolaryngol Clin North Am. 2018 Feb;51(1):173-184. doi: 10.1016/j.otc.2017.09.003. Review.


Loss of ADAMTS3 activity causes Hennekam lymphangiectasia-lymphedema syndrome 3.

Brouillard P, Dupont L, Helaers R, Coulie R, Tiller GE, Peeden J, Colige A, Vikkula M.

Hum Mol Genet. 2017 Nov 1;26(21):4095-4104. doi: 10.1093/hmg/ddx297.


Vascular Anomalies Caused by Abnormal Signaling within Endothelial Cells: Targets for Novel Therapies.

Nguyen HL, Boon LM, Vikkula M.

Semin Intervent Radiol. 2017 Sep;34(3):233-238. doi: 10.1055/s-0037-1604296. Epub 2017 Sep 11. Review.


Expression of Contactin 4 Is Associated With Malignant Behavior in Pheochromocytomas and Paragangliomas.

Evenepoel L, van Nederveen FH, Oudijk L, Papathomas TG, Restuccia DF, Belt EJT, de Herder WW, Feelders RA, Franssen GJH, Hamoir M, Maiter D, Ghayee HK, Shay JW, Perren A, Timmers HJLM, van Eeden S, Vroonen L, Aydin S, Robledo M, Vikkula M, de Krijger RR, Dinjens WNM, Persu A, Korpershoek E.

J Clin Endocrinol Metab. 2018 Jan 1;103(1):46-55. doi: 10.1210/jc.2017-01314.


Efficient activation of the lymphangiogenic growth factor VEGF-C requires the C-terminal domain of VEGF-C and the N-terminal domain of CCBE1.

Jha SK, Rauniyar K, Karpanen T, Leppänen VM, Brouillard P, Vikkula M, Alitalo K, Jeltsch M.

Sci Rep. 2017 Jul 7;7(1):4916. doi: 10.1038/s41598-017-04982-1.


Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling.

Amyere M, Revencu N, Helaers R, Pairet E, Baselga E, Cordisco M, Chung W, Dubois J, Lacour JP, Martorell L, Mazereeuw-Hautier J, Pyeritz RE, Amor DJ, Bisdorff A, Blei F, Bombei H, Dompmartin A, Brooks D, Dupont J, González-Enseñat MA, Frieden I, Gérard M, Kvarnung M, Hanson-Kahn AK, Hudgins L, Léauté-Labrèze C, McCuaig C, Metry D, Parent P, Paul C, Petit F, Phan A, Quere I, Salhi A, Turner A, Vabres P, Vicente A, Wargon O, Watanabe S, Weibel L, Wilson A, Willing M, Mulliken JB, Boon LM, Vikkula M.

Circulation. 2017 Sep 12;136(11):1037-1048. doi: 10.1161/CIRCULATIONAHA.116.026886. Epub 2017 Jul 7.


KIF1B and NF1 are the most frequently mutated genes in paraganglioma and pheochromocytoma tumors.

Evenepoel L, Helaers R, Vroonen L, Aydin S, Hamoir M, Maiter D, Vikkula M, Persu A.

Endocr Relat Cancer. 2017 Aug;24(8):L57-L61. doi: 10.1530/ERC-17-0061. Epub 2017 May 17. No abstract available.


Comment on "Increased Identification of Candidates for High-Risk Breast Cancer Screening Through Expanded Genetic Testing".

van Marcke C, Vikkula M, Duhoux FP.

J Am Coll Radiol. 2017 May;14(5):582. doi: 10.1016/j.jacr.2017.01.017. No abstract available.


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