Boon LM, Mulliken JB, Vikkula M, Watkins H, Seidman J, Olsen BR, and Warman ML. Assignment of a locus for dominantly inherited venous malformations to chromosome 9p. Hum Mol Gene 1994; 3:1583-1587. PDF

Vikkula M, Mariman EC, Lui VCH, Zhidkova NI, Tiller GE, Goldring M, van Beersum SEC, de Waal Malefijt MC, van den Hoogen FHJ, Ropers HH, Mayne R, Cheah KSE, Olsen BR, Warman ML, Brunner HG. Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus. Cell. Feb 10 1995;80(3):431-7. PDF

Boon L.M., Enjolras O., Mulliken J.B.: Congenital hemangioma: Evidence of accelerated involution. J Pediatr 1996,128 :329-35. PDF

Vikkula M, Boon LM, Carraway III KL, 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. Dec 27 1996;87(7):1181-90. PDF

Boon L.M., Burrows P.E., Paltiel H.J., Lund D., Ezekowitz R.A.B., Mulliken J.B.: Hepatic vascular anomalies in infancy: A twenty-seven year experience. J Pediatr 1996, 129(3): 346-54. PDF

Vikkula, M, Boon, LM, Carraway, K, Calvert, JT, Marchuk, D, Goumnerov, B, Pasyk, KA, Warman, ML, Cantley, L, Mulliken, JB, Olsen, BR. Vascular dysmorphogenesis caused by an activating mutation in the receptor tyrosine kinase tie-2. Cell 1996, 87: 1181-1190. PDF

Vikkula M, Boon LM, Mulliken JB, Olsen BR. Molecular basis of vascular anomalies. Trends Cardiovasc Med. Oct 1998;8(7):281-292. PDF

Jüppner, H, Schipani, E, Bastepe, M, Cole, DEC, 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, 95:11798-11803. PDF

Razon, M. J., Kräling, B. M., Mulliken, J.B., Bischoff, J. Increased apoptosis coincides with onset of involution in infantile hemangioma. Microcirculation 1998, 5:189-195. PDF

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. Jul 1999;65(1):125-133. PDF

Annunen, S, Körkkö, J, Czarny, M, Warman, ML, Brunner, HG, Kääriäinen, H, Mulliken, JB, Tranebjaerg, L, Brooks, DG, Cox, G, Curtis, MA, Davenport, S, Friedrich, C, Kaitila, I, Krawczynski, M, Latos-Bielenska, A, Mukai, S, Olsen, BR, Shinno, N, Somer, M, Vikkula, M, Zlotogora, J, Prockop, DJ, Ala-Kokko, L. Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes. Am J Hum Genet, 1999, 65:974-983. PDF

Boon, LM, Brouillard, P, Irrthum, A, Karttunen, L, Warman, M, 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, 65:125-133. PDF

Eerola I, Plate KH, Spiegel R, Boon LM, Mulliken JB, Vikkula M. KRIT1 is mutated in hyperkeratotic cutaneous capillary-venous malformation associated with cerebral capillary malformation. Hum Mol Genet. 2000 May 22;9(9):1351-5. PDF

Brouillard, P, Olsen, BR, Vikkula, M. High resolution physical and transcript map of the locus for venous
malformations with glomus cells (VMGLOM) on chromosome 1p21-22. Genomics, 2000, 67:96-101 PDF.

Irrthum, A, Brouillard, P, Boon, LM, Warman, ML, Olsen, BR, Mulliken, JB, Enjolras, O, Vikkula, M. Linkage disequilibrium reduces the locus for venous malformations with glomus cells (VMGLOM) to a single YAC of 1.48 Mbp. Eur J. Hum Genet 2001, 9:34-38. PDF

Boye E, Yu Y, Paranya G, Mulliken BJ, Olsen BR, Bischoff J. Clonality and altered behavior of endothelial cells from hemangiomas. J Clin Invest 2001, 107:745-752. PDF

Vikkula M, Boon LM, Mulliken JB. Molecular genetics of vascular malformations. Matrix Biol. Sep 2001;20(5-6):327-335. PDF

Yu, Y., Varughese, J., Brown, L., Mulliken, J. B., and Bischoff, J. Increased Tie2 expression, enhanced response to angiopoietin-1, and dysregulated angiopoietin-2 expression in hemangioma-derived endothelial cells, Am J Pathol 2001, 159, 2271-2280 PDF

Brouillard P, Boon LM, Mulliken JB, 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. Apr 2002;70(4):866-74. PDF

Mulliken JB, Rogers GF, Marler JJ. Circular excision of hemangioma and purse-string closure- the smallest possible scar. Plast. Reconstr. Surg. 2002; 109:1544-1554

Hein KD, Mulliken JB, Kozakewich HPW, Upton J, and Burrows PE. Venous malformations of skeletal muscle. Plast. Reconstr. Surg. 2002; 110: 1625-1635

Marler JJ, Fishman SJ, Upton J, Burrows Pe, Paltiel HJ, Jennings RW, Mulliken JB. Prenatal diagnosis of vascular anomalies. J. Pediatr. Surg. 2002; 37: 318-326. PDF

Eerola I, Boon LM, Watanabe S, Grynberg H, Mulliken JB, Vikkula M. Locus for susceptibility for familial capillary malformation ('port-wine stain') maps to 5q. Eur J Hum Genet. Jun 2002;10(6):375-380. PDF

Eerola I, Boon LM, Mulliken JB, Burrows PE, Vanwijck R, Vikkula M. Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. Am J Hum Genet. Dec 2003;73(6):1240-9. PDF

Konez O, Burrows PE, Mulliken JB, Fishman SJ, Kozakewich HP. Angiographic features of rapidly involuting congenital hemangioma (RICH). Pediatr. Radiol. 2003; 33:15-19. PDF

Berenguer B, Mulliken JB, Enjolras O, et. al. Rapidly involuting congenital hemangioma: Clinical and histopathologic features. Pediatr. Dev. Pathol. 2003; 6: 495-510. ABSTRACT

Li, Q, Yu, Y, Bischoff, J, Mulliken, JB, Olsen, BR. Differential expression of CD146 in tissues and endothelial cells derived from infantile hemangioma and normal human skin. J Pathol. 2003, 201:296-302. PDF

Boon LM, Mulliken JB, Enjolras O, Vikkula M. Glomuvenous malformation (glomangioma) and venous malformation: distinct clinicopathologic and genetic entities. Arch Dermatol. Aug 2004;140(8):971-6. PDF

* Yu Y, Wylie-Sears J, Boscolo E, Mulliken JB, Bischoff J. Genomic imprinting of IGF2 is maintained in infantile hemangioma despite its high level of expression. Mol Med. 2004 Jul-Dec;10(7-12):117-123. PDF

Yu Y, Flint AF, Mulliken JB, Wu JK, Bischoff J.Endothelial progenitor cells in infantile hemangioma. Blood. 2004,103,1373-1375. PDF

* McIntyre BA, Brouillard P, Aerts V, Gutierrez-Roelens I, Vikkula M. Glomulin is predominantly expressed in vascular smooth muscle cells in the embryonic and adult mouse. Gene Expr Patterns 2004;4(3):351-358. PDF

Greene AK, Rogers GF, Mulliken JB. Management of parotid hemangioma in 100 children. Plast. Reconst. Surg. 2004; 113: 53-60. ABSTRACT

Werler MM, Sheehan JF, Hayes C, Mitchell AA, Mulliken JB. Vasoactive exposures, vascular events, and hemifacial microsomia. Birth Defects Res. Part A Clin. Mal. Teratol. 2004; 70 389-395. ABSTRACT

Mulliken JB, Enjolras O. Congenital hemangiomas and infantile hemangioma: Missing Links. J. Amer. Acad. Dermatol. 2004; 50: 875-882. PDF

Eklund, L, Olsen, BR. Tie receptors and their angiopoietin ligands are context dependent regulators of vascular remodeling. Exp. Cell Res., 2005, 312, 630-640. PDF

Marler, JJ, Mulliken JB. Current management of hemangiomas and vascular malformations. Clin. Plast. Surg. 2005; 32:99-116. PDF

Gruman A, Liang MG, Mulliken JB, et al. Kaposiform hemangioendothelioma without Kasabach-Merrit phenomenon. J. Am. Acad. Dermatol. 2005; 52:616-622. PDF

Lawley LP, Cerimele F, Weiss SW, North P, Cohen C, Kozakewich HPW, Mulliken JB, Arbiser JL. Expression of Wilms 1 gene distinguishes vascular malformations from proliferative endothelial lesions. Arch Dermatol. 2005; 1297-3000. PDF

Debelenko LV, Perez-Atayde A, Mulliken JB, et. al. D2-40 immunohistochemical analysis of pediatric vascular tumors reveals positivity in kaposiform hemangiomendothelioma. Mod. Path. 2005; 18: 1454-1460. PDF

Barnes CM, Huang S, Aipainen A, Sanoudou D, Chen EJ, Eichler GS, Guo Y, Yu Y, Ingber DE, Mulliken JB, et al. Evidence by molecular profiling for a placental origin of infantile hemangioma. Proc. Nat. Acad. Sci U.S.A 2005; 102: 19097-19102. PDF

Marler JJ, Fishman SJ, Kilroy SM, Fang J. Upton J, Mulliken JB, Burrows PE, Zurkowski D, Folkman J, Moses MA. Increased expression of urinary metalloproteinases parallels extent and activity of vascular anomalies. Pediatr. 2005; 116: 38-45. PDF

* Brouillard P, Ghassibe M, Penington A, Boon LM, Dompmartin A, Temple K, Cordisco M, Adams D, Piette F, Harper J, Syed S, Boralevi F, Taïeb A, Danda S, Baselga E, Enjolras O, Mulliken JB, Vikkula M. Four common glomulin mutations cause two thirds of glomuvenous malformations ("familial glomangiomas"): evidence for a founder effect. J Med Genet. Feb 2005;42(2):e13. PDF

Boon LM, Mulliken JB, Vikkula M. RASA1: variable phenotype with capillary and arteriovenous malformations. Curr Opin Genet Dev. Jun 2005;15(3):265-9. PDF

Ghalamkarpour A, Morlot S, Raas-Rothschild A, Utkus A, Mulliken JB, Boon LM, Vikkula M. Hereditary lymphedema type I associated with VEGFR3 mutation: the first de novo case and atypical presentations. Clin Genet. Oct 2006;70(4):330-5. PDF

Khan ZA, Melero-Martin JM, Wu X, Paruchuri S, Boscolo E, Mulliken JB, Bischoff J. Endothelial progenitor cells from infantile hemangioma and umbilical cord blood display unique cellular responses to endostatin. Blood. 2006, 108,915-921. PDF

* Vikkula M. Pathogénie et génétique des anomalies vasculaires (Pathogenesis and genetics of vascular anomalies). Ann Chir Plast Esthet 2006 ;51(4-5) :282-6. PDF

* Revencu N, Vikkula M. Cerebral cavernous malformation: new molecular and clinical insights. J Med Genet. Sep 2006;43(9):716-21. PDF

* Yu Y, Fuhr J, Boye E, Gyorffy S, Soker S, Atala A, Mulliken JB, Bischoff J. Mesenchymal stem cells and adipogenesis in hemangioma involution. Stem Cells. 2006, 24,1605-1612. PDF

Casanova, D, Boon, LM, Vikkula, M. Venous malformations: clinical characteristics and differential diagnosis. Ann Chir Plast Esthet 2006; 51:373-387. PDF

Tennant LB, Mulliken JB, Perez-Atayde AR, Kozakewich HPW. Verrucous hemangioma revisited. Pediatr. Dermatol. 2006; 23:208-215. ABSTRACT

* Mallory SB, Enjolras O, Boon LM, Rogers E, Berk DR, Blei F, Baselga E, Ros AM, Vikkula M. Congenital plaque-type glomuvenous malformations presenting in childhood. Arch Dermatol 2006;142(7):892-896. PDF

* Pocock, B, Boon, LM, Vikkula, M. Molecular basis of vascular birthmarks. Sem Plastic Surg 2006, 20 :149-156. PDF

Christison-Lagay ER, Burrows PE, Alomari A, Dubois J, Kozakewich HP, Lane TS, Paltiel JH, Klement G, Mulliken JB, Fishman SJ. Hepatic hemangiomas: Subtype classification and development of a clinical practice algorithm and registry. J. Pediatr. Surg. 2007; 42: 62-67. PDF

*Wu, X, Lensch, MV, Wylie-Sears, J, Daley, GQ, Bischoff, J. Hemogenic Endothelial Progenitor Cells Isolated from Human Umbilical Cord Blood. Stem Cells, 2007; 25:2770-2776. PDF

Vikkula M. Vascular Pathologies: Angiogenomics: towards a genetic nosology and understanding of vascular anomalies. Eur J Hum Genet 2007;15:821-822. PDF

* Brouillard P and Vikkula M. Genetic causes of vascular malformations. (review). Hum Mol Genet 2007, 16 :140-149. PDF

* Khan, ZA, Boscolo, A, Picard, A, Psutka, S, Melero-Martin, JM, Bartch, TC,  Mulliken, JB, and Bischoff, J. Multipotential stem cells recapitulate human infantile hemangioma
in immunodeficient mice. J. Clin. Invest., 2008; 118: 2592-2599. PDF

Picard, A, Boscolo,  A,  Khan, ZA,  Bartch,  TC, Mulliken, JB, Vazquez,  MP,  and Joyce Bischoff. IGF-2 and FLT-1/VEGF-R1 mRNA Levels Reveal Distinctions and Similarities Between Congenital and Common Infantile Hemangioma. Ped. Res., 2008; 63:263-267. PDF

Revencu N, Boon LM, Vikkula M. Arteriovenous malformation in mice and men. In : Tumor angiogenesis. Eds. D. Marmé & N. Fusenig, Springer Verlag, Germany (2008), 363-374.

Wouters V, Boon LM, Vikkula M. TIE2 and cutaneomucosal venous malformation. In : Inborn errors of development. Ed. C.J. Epstein, R.P. Erickson, A. Wynshaw-Boris, Oxford University Press, New York, (2008), III, part E, pp. 491-4.

Revencu N, Boon LM, Mulliken JB, Vikkula M. RASA1 and capillary malformation-arteriovenous malformation. In : Inborn errors of development. Ed. C.J. Epstein, R.P. Erickson, A. Wynshaw-Boris, Oxford University Press, New York, (2008), III, part J, pp. 647-50.

Brouillard P, Enjolras E, Boon LM, Vikkula M. Glomulin and glomuvenous malformation. In : Inborn errors of development. Ed. C.J. Epstein, R.P. Erickson, A. Wynshaw-Boris, Oxford University Press, New York, (2008), IV, pp. 1561-5.

Boon LM, Vikkula M. Vascular Anomalies. In : Fitzpatrick’s Dermatology in General Medicine, 7th edition, McGraw-Hill Professional Publishing (2008), Editors: Klaus Wolff, Lowell A. Goldsmith, Stephen I. Katz, Barbara A. Gilchrest, Amy S. Paller, David J. Leffell. Vol 2: chapter 173: pp. 1651-66.

* Dompmartin A, Acher A, Thibon P, Tourbach S, Hermans C, Deneys V, Pocock B, Lequerrec A, Labbé D, Barrellier M-T, Vanwijck R, Vikkula M, Boon LM. Association of localized intravascular coagulopathy with venous malformations. Arch Dermatol 2008, 144(7):873-7.  PDF

* 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. PDF

*Aerts A, Boon LM, Vikkula M. La génétique des anomalies vasculaires. Journal du Pédiatre Belge 2008, 10(2) :50-5. PDF

* Matsson H, Eason J, Bookwalter CS, Klar J, Gustavsson P, Sunnegårdh J, Enell H, Jonzon A, Vikkula M, Gutierrez I, Granados Riveron J, Pope M, Bu’Lock F, Cox J, Robinson TE, Song F, Brook JD, Marston S, Trybus KM, Dahl N. Alpha-cardiac actin mutations produce atrial septal defects. Hum Mol Genet 2008; 17:256-65. PDF

Revencu N, Boon LM, Mulliken JB, Enjolras O, Cordisco MR, Burrows PE, Clapuyt, Hammer F, Dubois J, Baselga E, Brancati F, Carder R, Ceballos Quintal JM, Dallapiccola B, Fischer G, Frieden IJ, Garzon M, Harper J, Johnson-Patel J, Labrèze C, Martorell L, Paltiel H, 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 and specific neural tumors associated with RASA1 mutations. Hum Mutat 2008;29(7):959-65. PDF


Jinnin M, Medici D, Park L, Liu Y, Boye E, Limaye N, Vikkula M, Olsen BR. Low VEGFR-1 expression in infantile hemangioma caused by missense mutations in VEGFR-2 and anthrax toxin receptor TEM8. Nat Med, in press

Boon LM and Vikkula M. Blue jeans to blue genes. John Mulliken’s Festschrift. J Craniofac Surg, in press

Limaye N, Wouters V, Uebelhoer M, Tuominen M, Wirkkala R, Mulliken JB, Eklund L, Boon LM, Vikkula M. Somatic mutations in the angiopoïetin-receptor TIE2 can cause both solitary and multiple sporadic venous malformations. Nat Genet, in press.

Boye, E, Jinnin, M, Olsen, BR.  Infantile hemangioma – challenges, new insights and therapeutic promise.  J. Craniof. Surg, in press.

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* Study supported by grant from the NIH (P01 AR 048564)