Publications
Complete publication list (Pubmed search) :
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Representative publications :
Research topic n° 1 :
Limaye N, Wouters V, Uebelhoer M, Tuominen M, Wirkkala R, Mulliken JB, Eklund L, Boon LM, Vikkula M.
Somatic mutations in angiopoietin receptor gene TEK cause solitary and multiple sporadic venous malformations.
Nat Genet. 2009 Jan;41(1):118-24.
Ghalamkarpour A, Debauche Ch, Haan E, Van Regemorter N, Sznajer Y, Thomas D, Revencu N, Gillerot Y, Boon LM, Vikkula M.
Sporadic in utero generalized edema associated with mutations in the lymphangiogenic genes VEGFR3 and FOXC2 (short report).
J Pediatrics 2009
Jinnin M, Medici D, Park L, Liu Y, Boye E, Limaye N, Vikkula M, Olsen BR.
Suppressed NFAT-dependent VEGFR1 expression and constitutive VEGFR2 signaling in infantile hemangioma.
Nat Med. 2008, 14(11) :1236-46.
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, ischer 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.
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations.
Hum Mutat. 2008 Jul;29(7):959-65.
Eerola I, Boon LM, Mulliken JB, Burrows PE, Dompmartin A, Watanabe S, Vanwijck R, Vikkula M.
Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations.
Am J Hum Genet. 2003 Dec;73(6):1240-9.
Irrthum A, Devriendt K, Chitayat D, Matthijs G, Glade C, Steijlen PM, Fryns JP, Van Steensel MA, Vikkula M.
Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia.
Am J Hum Genet. 2003 Jun;72(6):1470-8.
Brouillard P, Boon LM, Mulliken JB, Enjolras O, Ghassibé M, Warman ML, Tan OT, Olsen BR, Vikkula M.
Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations ("glomangiomas").
Am J Hum Genet. 2002 Apr;70(4):866-74.
Irrthum A, Karkkainen MJ, Devriendt K, Alitalo K, Vikkula M.
Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase.
Am J Hum Genet. 2000 Aug;67(2):295-301.
Boon LM, Brouillard P, Irrthum A, Karttunen L, Warman ML, Rudolph R, Mulliken JB, Olsen BR, Vikkula M.
A gene for inherited cutaneous venous anomalies ("glomangiomas") localizes to chromosome 1p21-22.
Am J Hum Genet. 1999 Jul;65(1):125-33.
Vikkula M, Boon LM, Carraway KL 3rd, Calvert JT, Diamonti AJ, Goumnerov B, Pasyk KA, Marchuk DA, Warman ML, Cantley LC, Mulliken JB, Olsen BR.
Vascular dysmorphogenesis caused by an activating mutation in the receptor tyrosine kinase TIE2.
Cell. 1996 Dec 27;87(7):1181-90.
Research topic n° 2
Ferreira de Lima RLL, Hoper SA, Ghassibe M, Cooper M, Rorick NK, Kondo S, Katz L, Marizita M, Compton J, Hehr-Regensburg U, Dixon MJ, Boute O, Bayet B, Revencu N, Verellen-Dumoulin C, Vikkula M, Richieri-Costa A, Moretti-Ferreira D, Murray JC, Schutte BC.
Prevalence and non-random distribution of exonic mutations in Interferon Regulatory Factor 6 (IRF6) in 307 cases of Van der Woude syndrome and 37 cases of popliteal pterygium syndrome.
Genet Med. 2009 Mar 10. [Epub ahead of print]
Couvineau A, Wouters V, Bertrand G, Rouyer C, Gérard B, Boon LM, Grandchamp B, Vikkula M, Silve C.
PTHR1 mutations associated with Ollier disease result in receptor loss of function.
Hum Mol Genet, 2008, 17(18) :2766-75.
Ghassibe M, Bayet B, Revencu N, Desmyter L, Verellen-Dumoulin C, Gillerot Y, Deggouj N, Vanwijck R, Vikkula M.
Orofacial clefting: update on the role of genetics.
B-Ent 2006;2 Suppl 4:20-4.
Ghassibe M, Bernier V, Boon LM, Vikkula M.
A novel mutation in the MSX2 homeobox gene of a family with foramina parietalia permagna, headache and vascular anomaly.
Eur J Pediatr. Oct 2006;165(10):734-735.
Ghassibe M, Bayet B, Revencu N, Verellen-Dumoulin C, Gillerot Y, Vanwijck R, Vikkula M.
Interferon regulatory factor-6: a gene predisposing to isolated cleft lip with or without cleft palate in the Belgian population.
Eur J Hum Genet. Nov 2005;13(11):1239-42.
Ghassibe M, Revencu N, Bayet B, Gillerot Y, Vanwijck R, Veellen-Dumoulin C, Vikkula M.
Six families with van der Woude and/or popliteal pterygium syndrome: all with a mutation in the IRF6 gene.
J Med Genet. Feb 2004;41(2):e15.
Gong Y, Slee RB, Fukai N, Rawadi G, Roman-Roman S, Reginato A, Wang H, Cundy T, Glorieux F, Lev D, Zacharin M, Oexle K, Marcelino J, Suwairi W, Heeger S, Sabatakos G, Apte S, Adkins WN, Allgrove J, Arslan-Kirchner M, Batch JA, Beighton P, Black GCM, Boles RG, Boon LM, Borrone C, Brunner H, Carle GF, Dallapiccola B, De Paepe A, Floege B, Lees Halfhide M, Hall B, Hennekam RC, Hirose T, Jans A, Jüppner H, Kim C, Keppler-Noreuil K, LaCombe D, Lambert M, Lemyre E, Letteboer T, Peltonen L, Ramesar RS, Romanengo M, Somer H, Steichen-Gersdorf E, Steinmann B, Sullivan B, Superti-Furga A, Swoboda W, van den Boogaard M-J, Van Hul W, Vikkula M, Votruba M, Zabel B, Garcia T, Baron R, Olsen BR, Warman ML.
LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development.
Cell. Nov 16 2001;107(4):513-23.
Jüppner H, Schipani E, Bastepe M, Cole DE, Lawson ML, Mannstadt M, Hendy GN, Plotkin H, Koshiyama H, Koh T, Crawford JD, Olsen BR, Vikkula M.
The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3.
Proc Natl Acad Sci U S A. 1998 Sep 29;95(20):11798-803.
Vikkula M, Mariman EC, Lui VC, Zhidkova NI, Tiller GE, Goldring MB, van Beersum SE, de Waal Malefijt MC, van den Hoogen FH, Ropers HH, Mayne R, Cheah KSE, Olsen BR, Warman ML, Brunner HG.
Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus.
Cell. 1995 Feb 10;80(3):431-7.
Palotie A, Vaisanen P, Ott J, Ryhänen L, Elima K, Vikkula M, Cheah K, Vuorio E, Peltonen L.
Predisposition to familial osteoarthrosis linked to type II collagen gene.
Lancet.Apr 29 1989;1(8644):924-7.
